Incidental Mutation 'R1968:Hivep3'
| ID |
219200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hivep3
|
| Ensembl Gene |
ENSMUSG00000028634 |
| Gene Name |
human immunodeficiency virus type I enhancer binding protein 3 |
| Synonyms |
Krc, E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik |
| MMRRC Submission |
039981-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1968 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119590982-119992608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119953435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 584
(P584S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130249
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106307]
[ENSMUST00000166542]
[ENSMUST00000226560]
|
| AlphaFold |
A2A884 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106307
AA Change: P584S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: P584S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
185 |
207 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
8.34e-3 |
SMART |
|
low complexity region
|
257 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
636 |
656 |
2.06e1 |
SMART |
|
low complexity region
|
736 |
749 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
931 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1167 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1284 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1390 |
N/A |
INTRINSIC |
|
low complexity region
|
1529 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1720 |
1742 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
1748 |
1772 |
1.69e-3 |
SMART |
|
low complexity region
|
1778 |
1791 |
N/A |
INTRINSIC |
|
low complexity region
|
1814 |
1843 |
N/A |
INTRINSIC |
|
low complexity region
|
2203 |
2216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166542
AA Change: P584S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: P584S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
185 |
207 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
213 |
235 |
8.34e-3 |
SMART |
|
low complexity region
|
257 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
527 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
636 |
656 |
2.06e1 |
SMART |
|
low complexity region
|
736 |
749 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
878 |
894 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
931 |
N/A |
INTRINSIC |
|
low complexity region
|
1010 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1136 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1167 |
N/A |
INTRINSIC |
|
low complexity region
|
1170 |
1183 |
N/A |
INTRINSIC |
|
low complexity region
|
1259 |
1284 |
N/A |
INTRINSIC |
|
low complexity region
|
1376 |
1390 |
N/A |
INTRINSIC |
|
low complexity region
|
1529 |
1547 |
N/A |
INTRINSIC |
|
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1720 |
1742 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
1748 |
1772 |
1.69e-3 |
SMART |
|
low complexity region
|
1778 |
1791 |
N/A |
INTRINSIC |
|
low complexity region
|
1814 |
1843 |
N/A |
INTRINSIC |
|
low complexity region
|
2203 |
2216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226560
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,397,193 (GRCm39) |
Y180H |
possibly damaging |
Het |
| Abcc10 |
A |
T |
17: 46,633,125 (GRCm39) |
L528Q |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,136,463 (GRCm39) |
T353S |
probably benign |
Het |
| Aldh1a3 |
A |
G |
7: 66,061,248 (GRCm39) |
|
probably null |
Het |
| Aldh3b2 |
T |
A |
19: 4,030,705 (GRCm39) |
M390K |
probably benign |
Het |
| Arhgap45 |
T |
C |
10: 79,863,536 (GRCm39) |
I793T |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,944,067 (GRCm39) |
M253V |
probably benign |
Het |
| Atcay |
T |
C |
10: 81,048,312 (GRCm39) |
D258G |
possibly damaging |
Het |
| Atf1 |
G |
T |
15: 100,152,395 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
C |
T |
1: 172,067,731 (GRCm39) |
E511K |
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,825,000 (GRCm39) |
V777A |
probably benign |
Het |
| Baz1a |
T |
C |
12: 54,947,122 (GRCm39) |
T1173A |
possibly damaging |
Het |
| Bdh2 |
A |
T |
3: 134,991,370 (GRCm39) |
D15V |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,576,240 (GRCm39) |
Y69C |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,440 (GRCm39) |
L387P |
probably benign |
Het |
| Cat |
T |
C |
2: 103,315,334 (GRCm39) |
E17G |
probably benign |
Het |
| Ccdc15 |
T |
C |
9: 37,259,091 (GRCm39) |
I54M |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,353,965 (GRCm39) |
Y275C |
probably damaging |
Het |
| Cdhr1 |
T |
G |
14: 36,801,682 (GRCm39) |
I754L |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,856,313 (GRCm39) |
T368I |
probably benign |
Het |
| Cep126 |
C |
A |
9: 8,100,909 (GRCm39) |
D542Y |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,772,594 (GRCm39) |
S660P |
possibly damaging |
Het |
| Cfap70 |
A |
T |
14: 20,470,879 (GRCm39) |
S455R |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,458,450 (GRCm39) |
M886T |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,416,688 (GRCm39) |
S1098P |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,260,533 (GRCm39) |
I204N |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,666,291 (GRCm39) |
R1107H |
probably damaging |
Het |
| Cramp1 |
T |
C |
17: 25,183,913 (GRCm39) |
D1234G |
probably damaging |
Het |
| Csf1r |
A |
T |
18: 61,245,867 (GRCm39) |
I275L |
probably benign |
Het |
| Cyp27a1 |
A |
G |
1: 74,776,435 (GRCm39) |
E457G |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,273,749 (GRCm39) |
T410A |
probably benign |
Het |
| Cyp2d22 |
G |
C |
15: 82,257,373 (GRCm39) |
T264S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,790,088 (GRCm39) |
R390W |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,053 (GRCm39) |
S226G |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,074,544 (GRCm39) |
D91G |
possibly damaging |
Het |
| Dglucy |
T |
C |
12: 100,825,903 (GRCm39) |
V515A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,214,187 (GRCm39) |
L734* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,579,307 (GRCm39) |
N1690D |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,347 (GRCm39) |
Y356H |
probably benign |
Het |
| Fut7 |
T |
A |
2: 25,315,738 (GRCm39) |
V332D |
probably benign |
Het |
| Gnas |
T |
C |
2: 174,140,526 (GRCm39) |
S232P |
probably damaging |
Het |
| Gramd4 |
A |
G |
15: 86,017,106 (GRCm39) |
E522G |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,092,970 (GRCm39) |
T297A |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,109,304 (GRCm39) |
S180P |
probably benign |
Het |
| Irag2 |
T |
A |
6: 145,115,499 (GRCm39) |
S310T |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,641,729 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
T |
10: 67,061,219 (GRCm39) |
S1191C |
probably damaging |
Het |
| Lima1 |
T |
C |
15: 99,717,565 (GRCm39) |
N147S |
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,266 (GRCm39) |
T506I |
probably damaging |
Het |
| Mat1a |
A |
T |
14: 40,832,991 (GRCm39) |
E58V |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,492 (GRCm39) |
L348P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,845,470 (GRCm39) |
Y1413H |
probably damaging |
Het |
| Mpp3 |
C |
A |
11: 101,909,378 (GRCm39) |
|
probably benign |
Het |
| Mpp4 |
T |
A |
1: 59,183,961 (GRCm39) |
I260F |
probably damaging |
Het |
| Myocd |
C |
A |
11: 65,091,733 (GRCm39) |
G70C |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Nckap5 |
T |
A |
1: 125,942,367 (GRCm39) |
D209V |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,264,366 (GRCm39) |
K707R |
probably benign |
Het |
| Npr3 |
A |
G |
15: 11,905,055 (GRCm39) |
L224S |
probably benign |
Het |
| Or5m9b |
T |
A |
2: 85,905,549 (GRCm39) |
L155Q |
probably damaging |
Het |
| Or5w20 |
T |
A |
2: 87,727,383 (GRCm39) |
V280E |
probably damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,602 (GRCm39) |
S36G |
probably damaging |
Het |
| Otof |
C |
T |
5: 30,545,998 (GRCm39) |
D467N |
probably damaging |
Het |
| Paxx |
T |
C |
2: 25,350,640 (GRCm39) |
|
probably benign |
Het |
| Pcmt1 |
G |
A |
10: 7,516,474 (GRCm39) |
R179* |
probably null |
Het |
| Phkb |
T |
A |
8: 86,697,580 (GRCm39) |
V463D |
probably benign |
Het |
| Prkcq |
T |
C |
2: 11,250,208 (GRCm39) |
V175A |
probably damaging |
Het |
| Rasl11b |
T |
G |
5: 74,356,797 (GRCm39) |
I58S |
probably damaging |
Het |
| Rb1cc1 |
A |
T |
1: 6,318,419 (GRCm39) |
|
probably null |
Het |
| Reck |
T |
A |
4: 43,913,771 (GRCm39) |
|
probably null |
Het |
| Riox1 |
G |
T |
12: 83,998,156 (GRCm39) |
D231Y |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,005,617 (GRCm39) |
N1231I |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,530 (GRCm39) |
D291G |
possibly damaging |
Het |
| Samsn1 |
C |
T |
16: 75,742,461 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
C |
14: 65,927,249 (GRCm39) |
C49R |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,521,785 (GRCm39) |
D92G |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,656,858 (GRCm39) |
L153Q |
probably damaging |
Het |
| Sh3rf3 |
C |
T |
10: 58,649,809 (GRCm39) |
T138M |
probably benign |
Het |
| Shkbp1 |
C |
T |
7: 27,054,825 (GRCm39) |
|
probably null |
Het |
| Slc22a29 |
G |
A |
19: 8,195,707 (GRCm39) |
P111S |
probably benign |
Het |
| Smarca1 |
A |
G |
X: 46,941,564 (GRCm39) |
V618A |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,609,602 (GRCm39) |
M1308L |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,123,775 (GRCm39) |
N354S |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,040,465 (GRCm39) |
S2370P |
probably damaging |
Het |
| Ssxb3 |
A |
T |
X: 8,454,905 (GRCm39) |
I28N |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,831,119 (GRCm39) |
T411A |
probably damaging |
Het |
| Tex38 |
A |
C |
4: 115,637,537 (GRCm39) |
S89A |
probably benign |
Het |
| Tjp2 |
A |
T |
19: 24,088,437 (GRCm39) |
D723E |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,183 (GRCm39) |
N1121K |
probably damaging |
Het |
| Tti1 |
T |
C |
2: 157,850,966 (GRCm39) |
E91G |
possibly damaging |
Het |
| Wbp2 |
A |
T |
11: 115,973,191 (GRCm39) |
M72K |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,828,001 (GRCm39) |
C1062F |
possibly damaging |
Het |
| Wiz |
A |
G |
17: 32,578,346 (GRCm39) |
Y389H |
probably damaging |
Het |
| Zcchc3 |
T |
C |
2: 152,256,012 (GRCm39) |
K229R |
probably damaging |
Het |
| Zmat3 |
C |
A |
3: 32,415,131 (GRCm39) |
D60Y |
probably damaging |
Het |
|
| Other mutations in Hivep3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Hivep3
|
APN |
4 |
119,955,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01017:Hivep3
|
APN |
4 |
119,956,443 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01837:Hivep3
|
APN |
4 |
119,951,759 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01878:Hivep3
|
APN |
4 |
119,952,424 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02134:Hivep3
|
APN |
4 |
119,990,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL02183:Hivep3
|
APN |
4 |
119,989,221 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02350:Hivep3
|
APN |
4 |
119,980,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02451:Hivep3
|
APN |
4 |
119,991,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Hivep3
|
APN |
4 |
119,991,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02617:Hivep3
|
APN |
4 |
119,952,641 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02725:Hivep3
|
APN |
4 |
119,953,019 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02828:Hivep3
|
APN |
4 |
119,954,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL02954:Hivep3
|
APN |
4 |
119,990,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02966:Hivep3
|
APN |
4 |
119,989,383 (GRCm39) |
missense |
probably benign |
0.04 |
|
Branchial
|
UTSW |
4 |
119,953,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Deceit
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
Mandible
|
UTSW |
4 |
119,954,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Sclerotic
|
UTSW |
4 |
119,952,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Stealth
|
UTSW |
4 |
119,980,073 (GRCm39) |
nonsense |
probably null |
|
|
Yellowjacket
|
UTSW |
4 |
119,989,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4260001:Hivep3
|
UTSW |
4 |
119,956,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0321:Hivep3
|
UTSW |
4 |
119,952,788 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0336:Hivep3
|
UTSW |
4 |
119,961,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Hivep3
|
UTSW |
4 |
119,953,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0562:Hivep3
|
UTSW |
4 |
119,953,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0637:Hivep3
|
UTSW |
4 |
119,989,738 (GRCm39) |
nonsense |
probably null |
|
|
R0645:Hivep3
|
UTSW |
4 |
119,954,531 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1186:Hivep3
|
UTSW |
4 |
119,671,920 (GRCm39) |
start gained |
probably benign |
|
|
R1254:Hivep3
|
UTSW |
4 |
119,956,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Hivep3
|
UTSW |
4 |
119,953,772 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1623:Hivep3
|
UTSW |
4 |
119,952,901 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1739:Hivep3
|
UTSW |
4 |
119,952,371 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1766:Hivep3
|
UTSW |
4 |
119,953,868 (GRCm39) |
missense |
probably benign |
|
|
R1769:Hivep3
|
UTSW |
4 |
119,954,768 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1773:Hivep3
|
UTSW |
4 |
119,956,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2220:Hivep3
|
UTSW |
4 |
119,591,235 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2428:Hivep3
|
UTSW |
4 |
119,955,705 (GRCm39) |
nonsense |
probably null |
|
|
R3789:Hivep3
|
UTSW |
4 |
119,955,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3917:Hivep3
|
UTSW |
4 |
119,956,624 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4366:Hivep3
|
UTSW |
4 |
119,953,286 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4436:Hivep3
|
UTSW |
4 |
119,953,120 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4504:Hivep3
|
UTSW |
4 |
119,590,990 (GRCm39) |
unclassified |
probably benign |
|
|
R4705:Hivep3
|
UTSW |
4 |
119,729,247 (GRCm39) |
intron |
probably benign |
|
|
R4713:Hivep3
|
UTSW |
4 |
119,989,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Hivep3
|
UTSW |
4 |
119,955,020 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4887:Hivep3
|
UTSW |
4 |
119,980,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Hivep3
|
UTSW |
4 |
119,980,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Hivep3
|
UTSW |
4 |
119,956,114 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5204:Hivep3
|
UTSW |
4 |
119,961,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5594:Hivep3
|
UTSW |
4 |
119,980,245 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5697:Hivep3
|
UTSW |
4 |
119,954,152 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5715:Hivep3
|
UTSW |
4 |
119,953,570 (GRCm39) |
missense |
probably benign |
|
|
R5740:Hivep3
|
UTSW |
4 |
119,953,220 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5760:Hivep3
|
UTSW |
4 |
119,952,208 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5923:Hivep3
|
UTSW |
4 |
119,953,490 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5927:Hivep3
|
UTSW |
4 |
119,954,305 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6042:Hivep3
|
UTSW |
4 |
119,955,061 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6074:Hivep3
|
UTSW |
4 |
119,954,891 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6150:Hivep3
|
UTSW |
4 |
119,591,274 (GRCm39) |
nonsense |
probably null |
|
|
R6211:Hivep3
|
UTSW |
4 |
119,955,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6251:Hivep3
|
UTSW |
4 |
119,952,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6451:Hivep3
|
UTSW |
4 |
119,956,105 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6531:Hivep3
|
UTSW |
4 |
119,980,073 (GRCm39) |
nonsense |
probably null |
|
|
R6651:Hivep3
|
UTSW |
4 |
119,980,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Hivep3
|
UTSW |
4 |
119,951,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6721:Hivep3
|
UTSW |
4 |
119,952,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6796:Hivep3
|
UTSW |
4 |
119,953,558 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6864:Hivep3
|
UTSW |
4 |
119,952,085 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6902:Hivep3
|
UTSW |
4 |
119,953,192 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7111:Hivep3
|
UTSW |
4 |
119,952,431 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7113:Hivep3
|
UTSW |
4 |
119,955,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Hivep3
|
UTSW |
4 |
119,954,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7189:Hivep3
|
UTSW |
4 |
119,989,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7218:Hivep3
|
UTSW |
4 |
119,952,649 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7366:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7368:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7491:Hivep3
|
UTSW |
4 |
119,956,027 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7496:Hivep3
|
UTSW |
4 |
119,989,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Hivep3
|
UTSW |
4 |
119,954,052 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7604:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7605:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7607:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7610:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7611:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7613:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7626:Hivep3
|
UTSW |
4 |
119,955,108 (GRCm39) |
frame shift |
probably null |
|
|
R7707:Hivep3
|
UTSW |
4 |
119,591,156 (GRCm39) |
missense |
|
|
|
R7736:Hivep3
|
UTSW |
4 |
119,952,740 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7915:Hivep3
|
UTSW |
4 |
119,954,962 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7943:Hivep3
|
UTSW |
4 |
119,989,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7972:Hivep3
|
UTSW |
4 |
119,954,711 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8093:Hivep3
|
UTSW |
4 |
119,952,632 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8111:Hivep3
|
UTSW |
4 |
119,955,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8215:Hivep3
|
UTSW |
4 |
119,980,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Hivep3
|
UTSW |
4 |
119,956,639 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8467:Hivep3
|
UTSW |
4 |
119,952,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8768:Hivep3
|
UTSW |
4 |
119,989,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8890:Hivep3
|
UTSW |
4 |
119,953,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8902:Hivep3
|
UTSW |
4 |
119,953,937 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9022:Hivep3
|
UTSW |
4 |
119,955,304 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9336:Hivep3
|
UTSW |
4 |
119,952,400 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9606:Hivep3
|
UTSW |
4 |
119,989,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF019:Hivep3
|
UTSW |
4 |
119,955,467 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0062:Hivep3
|
UTSW |
4 |
119,955,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Hivep3
|
UTSW |
4 |
119,988,984 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Hivep3
|
UTSW |
4 |
119,990,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hivep3
|
UTSW |
4 |
119,988,975 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Hivep3
|
UTSW |
4 |
119,953,143 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCCTCTCCTGAGAAGTC -3'
(R):5'- TCAGAGCAGTAGTACTTCTTATGAGC -3'
Sequencing Primer
(F):5'- GAGAAGTCACTCAATGCCTTCTG -3'
(R):5'- TTTTGTACCGAGCACCGCAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation