Incidental Mutation 'R2061:Hivep1'
| ID |
316290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hivep1
|
| Ensembl Gene |
ENSMUSG00000021366 |
| Gene Name |
human immunodeficiency virus type I enhancer binding protein 1 |
| Synonyms |
Cryabp1, alphaA-CRYBP1 |
| MMRRC Submission |
040066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.511)
|
| Stock # |
R2061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
42205304-42338504 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42313600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1947
(K1947E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060148]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060148
AA Change: K1947E
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056147
Gene: ENSMUSG00000021366
AA Change: K1947E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
388 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
407 |
429 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
435 |
457 |
1.95e-3 |
SMART |
|
low complexity region
|
488 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
854 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
953 |
980 |
1.53e2 |
SMART |
|
low complexity region
|
1253 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1275 |
1307 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1608 |
N/A |
INTRINSIC |
|
low complexity region
|
1902 |
1912 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
2074 |
2096 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
2102 |
2126 |
1.5e-4 |
SMART |
|
low complexity region
|
2164 |
2183 |
N/A |
INTRINSIC |
|
low complexity region
|
2299 |
2313 |
N/A |
INTRINSIC |
|
low complexity region
|
2345 |
2365 |
N/A |
INTRINSIC |
|
low complexity region
|
2517 |
2527 |
N/A |
INTRINSIC |
|
low complexity region
|
2580 |
2594 |
N/A |
INTRINSIC |
|
low complexity region
|
2629 |
2642 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222854
|
| Meta Mutation Damage Score |
0.3114 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (124/125) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,502,412 (GRCm39) |
S191P |
probably damaging |
Het |
| Ak2 |
C |
T |
4: 128,901,990 (GRCm39) |
A221V |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,010 (GRCm39) |
V571E |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,309,205 (GRCm39) |
E428* |
probably null |
Het |
| Armh3 |
C |
T |
19: 45,967,106 (GRCm39) |
R12Q |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,993,078 (GRCm39) |
D154V |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,364 (GRCm39) |
Q202* |
probably null |
Het |
| Ate1 |
A |
G |
7: 130,112,643 (GRCm39) |
C72R |
probably damaging |
Het |
| Atox1 |
A |
G |
11: 55,345,724 (GRCm39) |
V22A |
possibly damaging |
Het |
| Bbs12 |
A |
T |
3: 37,373,215 (GRCm39) |
M3L |
probably damaging |
Het |
| Bfsp1 |
A |
G |
2: 143,704,598 (GRCm39) |
V85A |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,159,575 (GRCm39) |
C541* |
probably null |
Het |
| Caskin2 |
C |
A |
11: 115,694,456 (GRCm39) |
V382F |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,874,045 (GRCm39) |
M596L |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,569,530 (GRCm39) |
V529M |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,575,581 (GRCm39) |
Y154D |
probably benign |
Het |
| Cdadc1 |
T |
A |
14: 59,818,783 (GRCm39) |
E348D |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,868,631 (GRCm39) |
V531A |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,726,061 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
G |
T |
7: 34,818,947 (GRCm39) |
R35L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,168,830 (GRCm39) |
N235S |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,524,987 (GRCm39) |
I2725F |
possibly damaging |
Het |
| Cracr2b |
A |
G |
7: 141,045,193 (GRCm39) |
E231G |
probably damaging |
Het |
| Cryaa |
G |
T |
17: 31,900,029 (GRCm39) |
A151S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,628 (GRCm39) |
W225R |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,938 (GRCm39) |
I116F |
probably damaging |
Het |
| Ddx43 |
C |
A |
9: 78,303,386 (GRCm39) |
N75K |
probably benign |
Het |
| Dmbt1 |
T |
G |
7: 130,700,863 (GRCm39) |
C1014G |
possibly damaging |
Het |
| Dner |
C |
A |
1: 84,383,710 (GRCm39) |
C558F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,456 (GRCm39) |
V839A |
possibly damaging |
Het |
| Dsg3 |
C |
T |
18: 20,660,794 (GRCm39) |
R378* |
probably null |
Het |
| Ecpas |
G |
T |
4: 58,824,270 (GRCm39) |
P1116T |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 59,476,160 (GRCm39) |
M1069V |
probably damaging |
Het |
| F930017D23Rik |
A |
C |
10: 43,480,416 (GRCm39) |
|
noncoding transcript |
Het |
| Faf1 |
A |
T |
4: 109,568,005 (GRCm39) |
N22Y |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,503,373 (GRCm39) |
V85E |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,770,448 (GRCm39) |
I87N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,148 (GRCm39) |
F314S |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,574,029 (GRCm39) |
Y141* |
probably null |
Het |
| Gdap1 |
A |
T |
1: 17,215,689 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
A |
T |
13: 43,456,719 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,502,474 (GRCm39) |
R655* |
probably null |
Het |
| Gm4353 |
A |
G |
7: 115,682,934 (GRCm39) |
S216P |
probably damaging |
Het |
| Gm6605 |
T |
A |
7: 38,147,706 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,841,227 (GRCm39) |
D634E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,337 (GRCm39) |
I152T |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,263,244 (GRCm39) |
F144L |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,145,513 (GRCm39) |
M395V |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,009,448 (GRCm39) |
Q544L |
probably benign |
Het |
| Jmjd1c |
A |
T |
10: 67,054,205 (GRCm39) |
E323D |
probably damaging |
Het |
| Kdm5a |
G |
T |
6: 120,358,578 (GRCm39) |
R207L |
probably benign |
Het |
| Kif5b |
C |
T |
18: 6,226,377 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
C |
2: 158,166,499 (GRCm39) |
V351A |
probably benign |
Het |
| Lss |
A |
T |
10: 76,381,932 (GRCm39) |
|
probably null |
Het |
| Madd |
A |
C |
2: 90,991,831 (GRCm39) |
|
probably benign |
Het |
| Map6 |
G |
A |
7: 98,966,679 (GRCm39) |
V503I |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,660,260 (GRCm39) |
L22P |
probably damaging |
Het |
| Mcfd2 |
T |
C |
17: 87,563,404 (GRCm39) |
N130D |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,305,902 (GRCm39) |
N5S |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,940,389 (GRCm39) |
F48I |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,461 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,507,391 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
T |
C |
8: 96,097,407 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,053,288 (GRCm39) |
K879R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,524,696 (GRCm39) |
K655E |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,468,323 (GRCm39) |
N221D |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,821,213 (GRCm39) |
E245G |
probably benign |
Het |
| Nmral1 |
C |
T |
16: 4,534,193 (GRCm39) |
E83K |
probably damaging |
Het |
| Noa1 |
T |
A |
5: 77,452,034 (GRCm39) |
Q550L |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,086,097 (GRCm39) |
Y211* |
probably null |
Het |
| Or10n1 |
G |
T |
9: 39,525,071 (GRCm39) |
M69I |
probably benign |
Het |
| Or10v1 |
T |
A |
19: 11,873,921 (GRCm39) |
Y179N |
probably damaging |
Het |
| Or2ag18 |
A |
C |
7: 106,404,975 (GRCm39) |
H231Q |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,478 (GRCm39) |
I174M |
possibly damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,605 (GRCm39) |
I90M |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,730,551 (GRCm39) |
F584L |
probably damaging |
Het |
| Palb2 |
G |
A |
7: 121,723,748 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,229 (GRCm39) |
M121L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,236 (GRCm39) |
T1460A |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,041 (GRCm39) |
D731V |
probably damaging |
Het |
| Pex11b |
C |
A |
3: 96,543,037 (GRCm39) |
Q12K |
possibly damaging |
Het |
| Pigw |
G |
C |
11: 84,768,136 (GRCm39) |
Q398E |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,788,888 (GRCm39) |
E882G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,683,036 (GRCm39) |
N55K |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,127,298 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,790,504 (GRCm39) |
L1058Q |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,673,190 (GRCm39) |
S511P |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,338,437 (GRCm39) |
L676P |
probably damaging |
Het |
| Ppp6c |
T |
G |
2: 39,116,186 (GRCm39) |
D23A |
probably damaging |
Het |
| Prss30 |
G |
A |
17: 24,193,642 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,049,674 (GRCm39) |
|
probably null |
Het |
| Rec114 |
T |
A |
9: 58,560,188 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,764 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,349 (GRCm39) |
I3715N |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,130,947 (GRCm39) |
Y322C |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,652 (GRCm39) |
V1698A |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,314,717 (GRCm39) |
S1996L |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,525 (GRCm39) |
K174R |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,208,027 (GRCm39) |
I179T |
probably benign |
Het |
| Slc35b1 |
T |
G |
11: 95,276,718 (GRCm39) |
F102V |
possibly damaging |
Het |
| Slc66a2 |
G |
T |
18: 80,334,930 (GRCm39) |
A232S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,595 (GRCm39) |
D526G |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,978,519 (GRCm39) |
D495G |
probably damaging |
Het |
| Stk11ip |
G |
A |
1: 75,506,228 (GRCm39) |
E583K |
possibly damaging |
Het |
| Stk-ps1 |
T |
G |
17: 36,709,044 (GRCm39) |
|
noncoding transcript |
Het |
| Sufu |
T |
A |
19: 46,385,651 (GRCm39) |
I37N |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,469,535 (GRCm39) |
P140S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,291 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,196,952 (GRCm39) |
I55N |
probably damaging |
Het |
| Tmem150c |
T |
C |
5: 100,227,887 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tmem237 |
A |
G |
1: 59,159,445 (GRCm39) |
|
probably benign |
Het |
| Trim11 |
A |
G |
11: 58,872,889 (GRCm39) |
E191G |
probably damaging |
Het |
| Ttll3 |
C |
T |
6: 113,386,003 (GRCm39) |
A612V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,807,466 (GRCm39) |
A89V |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,507,431 (GRCm39) |
F529L |
probably damaging |
Het |
| Vmn1r217 |
A |
C |
13: 23,298,698 (GRCm39) |
V68G |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,568,151 (GRCm39) |
S349P |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 104,961,502 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,895,838 (GRCm39) |
L262H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,895,991 (GRCm39) |
S241G |
probably benign |
Het |
|
| Other mutations in Hivep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00530:Hivep1
|
APN |
13 |
42,308,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00572:Hivep1
|
APN |
13 |
42,312,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00820:Hivep1
|
APN |
13 |
42,337,294 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL00846:Hivep1
|
APN |
13 |
42,321,092 (GRCm39) |
nonsense |
probably null |
|
|
IGL01068:Hivep1
|
APN |
13 |
42,313,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01431:Hivep1
|
APN |
13 |
42,311,493 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01664:Hivep1
|
APN |
13 |
42,312,755 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01833:Hivep1
|
APN |
13 |
42,308,464 (GRCm39) |
nonsense |
probably null |
|
|
IGL02037:Hivep1
|
APN |
13 |
42,309,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02375:Hivep1
|
APN |
13 |
42,309,925 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02414:Hivep1
|
APN |
13 |
42,308,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02609:Hivep1
|
APN |
13 |
42,309,130 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02649:Hivep1
|
APN |
13 |
42,310,787 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02654:Hivep1
|
APN |
13 |
42,311,161 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02977:Hivep1
|
APN |
13 |
42,309,412 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03124:Hivep1
|
APN |
13 |
42,312,380 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03050:Hivep1
|
UTSW |
13 |
42,309,604 (GRCm39) |
missense |
probably benign |
0.12 |
|
PIT4305001:Hivep1
|
UTSW |
13 |
42,335,147 (GRCm39) |
missense |
|
|
|
R0067:Hivep1
|
UTSW |
13 |
42,312,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0067:Hivep1
|
UTSW |
13 |
42,312,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0078:Hivep1
|
UTSW |
13 |
42,309,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Hivep1
|
UTSW |
13 |
42,308,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Hivep1
|
UTSW |
13 |
42,309,629 (GRCm39) |
missense |
probably benign |
|
|
R0245:Hivep1
|
UTSW |
13 |
42,317,766 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0348:Hivep1
|
UTSW |
13 |
42,311,855 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0654:Hivep1
|
UTSW |
13 |
42,313,232 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0655:Hivep1
|
UTSW |
13 |
42,321,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Hivep1
|
UTSW |
13 |
42,308,422 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1013:Hivep1
|
UTSW |
13 |
42,310,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Hivep1
|
UTSW |
13 |
42,310,997 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1256:Hivep1
|
UTSW |
13 |
42,335,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Hivep1
|
UTSW |
13 |
42,311,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Hivep1
|
UTSW |
13 |
42,310,616 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1438:Hivep1
|
UTSW |
13 |
42,311,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1672:Hivep1
|
UTSW |
13 |
42,313,760 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1733:Hivep1
|
UTSW |
13 |
42,311,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Hivep1
|
UTSW |
13 |
42,337,262 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1786:Hivep1
|
UTSW |
13 |
42,337,262 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1909:Hivep1
|
UTSW |
13 |
42,309,122 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1993:Hivep1
|
UTSW |
13 |
42,310,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2004:Hivep1
|
UTSW |
13 |
42,313,625 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2069:Hivep1
|
UTSW |
13 |
42,337,262 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2075:Hivep1
|
UTSW |
13 |
42,309,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2076:Hivep1
|
UTSW |
13 |
42,317,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2085:Hivep1
|
UTSW |
13 |
42,337,226 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3701:Hivep1
|
UTSW |
13 |
42,311,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3702:Hivep1
|
UTSW |
13 |
42,311,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3716:Hivep1
|
UTSW |
13 |
42,311,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3718:Hivep1
|
UTSW |
13 |
42,311,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3719:Hivep1
|
UTSW |
13 |
42,311,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3720:Hivep1
|
UTSW |
13 |
42,312,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3820:Hivep1
|
UTSW |
13 |
42,337,787 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3822:Hivep1
|
UTSW |
13 |
42,337,787 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3842:Hivep1
|
UTSW |
13 |
42,311,203 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4379:Hivep1
|
UTSW |
13 |
42,308,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Hivep1
|
UTSW |
13 |
42,309,289 (GRCm39) |
missense |
probably benign |
|
|
R4587:Hivep1
|
UTSW |
13 |
42,309,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4604:Hivep1
|
UTSW |
13 |
42,313,225 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4686:Hivep1
|
UTSW |
13 |
42,309,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4725:Hivep1
|
UTSW |
13 |
42,316,887 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4924:Hivep1
|
UTSW |
13 |
42,311,792 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5009:Hivep1
|
UTSW |
13 |
42,312,229 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5320:Hivep1
|
UTSW |
13 |
42,313,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Hivep1
|
UTSW |
13 |
42,317,871 (GRCm39) |
splice site |
probably null |
|
|
R5498:Hivep1
|
UTSW |
13 |
42,276,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5521:Hivep1
|
UTSW |
13 |
42,311,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Hivep1
|
UTSW |
13 |
42,310,126 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5584:Hivep1
|
UTSW |
13 |
42,313,593 (GRCm39) |
missense |
probably benign |
|
|
R5635:Hivep1
|
UTSW |
13 |
42,313,603 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5636:Hivep1
|
UTSW |
13 |
42,316,932 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5886:Hivep1
|
UTSW |
13 |
42,310,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5895:Hivep1
|
UTSW |
13 |
42,310,694 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5981:Hivep1
|
UTSW |
13 |
42,313,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Hivep1
|
UTSW |
13 |
42,337,934 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6033:Hivep1
|
UTSW |
13 |
42,310,583 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6033:Hivep1
|
UTSW |
13 |
42,310,583 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6037:Hivep1
|
UTSW |
13 |
42,311,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6037:Hivep1
|
UTSW |
13 |
42,311,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Hivep1
|
UTSW |
13 |
42,311,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6247:Hivep1
|
UTSW |
13 |
42,310,966 (GRCm39) |
missense |
probably benign |
|
|
R6343:Hivep1
|
UTSW |
13 |
42,313,147 (GRCm39) |
nonsense |
probably null |
|
|
R6631:Hivep1
|
UTSW |
13 |
42,309,956 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6720:Hivep1
|
UTSW |
13 |
42,317,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Hivep1
|
UTSW |
13 |
42,308,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6797:Hivep1
|
UTSW |
13 |
42,310,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6800:Hivep1
|
UTSW |
13 |
42,310,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Hivep1
|
UTSW |
13 |
42,309,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Hivep1
|
UTSW |
13 |
42,336,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6993:Hivep1
|
UTSW |
13 |
42,312,190 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7104:Hivep1
|
UTSW |
13 |
42,310,814 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7139:Hivep1
|
UTSW |
13 |
42,313,430 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7186:Hivep1
|
UTSW |
13 |
42,309,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7227:Hivep1
|
UTSW |
13 |
42,310,387 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7263:Hivep1
|
UTSW |
13 |
42,311,668 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7438:Hivep1
|
UTSW |
13 |
42,308,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7490:Hivep1
|
UTSW |
13 |
42,311,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Hivep1
|
UTSW |
13 |
42,317,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7708:Hivep1
|
UTSW |
13 |
42,317,753 (GRCm39) |
nonsense |
probably null |
|
|
R7763:Hivep1
|
UTSW |
13 |
42,312,937 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7840:Hivep1
|
UTSW |
13 |
42,308,828 (GRCm39) |
missense |
probably benign |
|
|
R7864:Hivep1
|
UTSW |
13 |
42,312,290 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7913:Hivep1
|
UTSW |
13 |
42,309,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Hivep1
|
UTSW |
13 |
42,308,174 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8017:Hivep1
|
UTSW |
13 |
42,321,098 (GRCm39) |
missense |
|
|
|
R8019:Hivep1
|
UTSW |
13 |
42,321,098 (GRCm39) |
missense |
|
|
|
R8312:Hivep1
|
UTSW |
13 |
42,308,653 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8336:Hivep1
|
UTSW |
13 |
42,309,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8415:Hivep1
|
UTSW |
13 |
42,308,905 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8477:Hivep1
|
UTSW |
13 |
42,337,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8868:Hivep1
|
UTSW |
13 |
42,312,407 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9015:Hivep1
|
UTSW |
13 |
42,311,849 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9185:Hivep1
|
UTSW |
13 |
42,337,975 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9225:Hivep1
|
UTSW |
13 |
42,337,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Hivep1
|
UTSW |
13 |
42,317,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Hivep1
|
UTSW |
13 |
42,308,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9377:Hivep1
|
UTSW |
13 |
42,335,403 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9422:Hivep1
|
UTSW |
13 |
42,313,213 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9451:Hivep1
|
UTSW |
13 |
42,337,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Hivep1
|
UTSW |
13 |
42,337,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9490:Hivep1
|
UTSW |
13 |
42,311,518 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9502:Hivep1
|
UTSW |
13 |
42,322,779 (GRCm39) |
missense |
|
|
|
R9554:Hivep1
|
UTSW |
13 |
42,308,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
X0060:Hivep1
|
UTSW |
13 |
42,308,461 (GRCm39) |
missense |
probably benign |
0.07 |
|
X0067:Hivep1
|
UTSW |
13 |
42,310,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Hivep1
|
UTSW |
13 |
42,313,457 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGTGCCTGTGTTTTGCC -3'
(R):5'- TCCACTTGCTTGAATAGACCAC -3'
Sequencing Primer
(F):5'- TCGCCAGGGGTTAGACATG -3'
(R):5'- CCACTAAATCTGATTTTGAATGGGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation