Incidental Mutation 'R9336:Hivep3'
| ID |
707133 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119590982-119992608 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119952400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 239
(I239F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106307]
[ENSMUST00000166542]
[ENSMUST00000226560]
|
| AlphaFold |
A2A884 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106307
AA Change: I239F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101914
Gene: ENSMUSG00000028634
AA Change: I239F
| 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: I239F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130249
Gene: ENSMUSG00000028634
AA Change: I239F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
C |
T |
4: 148,029,490 (GRCm39) |
R487C |
probably benign |
Het |
| 2900026A02Rik |
A |
T |
5: 113,240,966 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
T |
A |
9: 30,816,085 (GRCm39) |
T625S |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,264 (GRCm39) |
V675A |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,809,578 (GRCm39) |
T1120S |
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,945,120 (GRCm39) |
M277K |
probably damaging |
Het |
| Babam2 |
A |
T |
5: 31,859,194 (GRCm39) |
M1L |
possibly damaging |
Het |
| Cadm3 |
G |
A |
1: 173,168,786 (GRCm39) |
Q261* |
probably null |
Het |
| Cdc27 |
A |
T |
11: 104,396,496 (GRCm39) |
D802E |
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,716,494 (GRCm39) |
V324I |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,242,807 (GRCm39) |
I737T |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,928,652 (GRCm39) |
I128N |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,554,189 (GRCm39) |
S743T |
probably benign |
Het |
| Ddias |
A |
G |
7: 92,507,314 (GRCm39) |
V867A |
possibly damaging |
Het |
| Ddx20 |
G |
C |
3: 105,585,903 (GRCm39) |
T814R |
possibly damaging |
Het |
| Dgka |
A |
T |
10: 128,566,935 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,761,775 (GRCm39) |
V3905E |
probably damaging |
Het |
| Dsg3 |
C |
A |
18: 20,657,742 (GRCm39) |
Q271K |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,095,239 (GRCm39) |
H350Y |
possibly damaging |
Het |
| Eif2b5 |
G |
A |
16: 20,324,027 (GRCm39) |
D457N |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,420,929 (GRCm39) |
T125A |
probably benign |
Het |
| Etv5 |
A |
C |
16: 22,254,627 (GRCm39) |
C78G |
probably benign |
Het |
| Frrs1 |
G |
A |
3: 116,684,582 (GRCm39) |
R263H |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,394 (GRCm39) |
T183I |
probably damaging |
Het |
| Ifitm2 |
AG |
A |
7: 140,535,814 (GRCm39) |
|
probably null |
Het |
| Igkv1-88 |
T |
A |
6: 68,839,313 (GRCm39) |
I100F |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,165 (GRCm39) |
N185S |
probably benign |
Het |
| Kmt2d |
A |
C |
15: 98,743,697 (GRCm39) |
L3821R |
unknown |
Het |
| Krtap22-2 |
T |
G |
16: 88,807,478 (GRCm39) |
Y40S |
unknown |
Het |
| Lrrc1 |
A |
G |
9: 77,349,480 (GRCm39) |
V362A |
probably damaging |
Het |
| Malsu1 |
T |
A |
6: 49,061,449 (GRCm39) |
I171N |
probably damaging |
Het |
| Mark1 |
C |
T |
1: 184,648,345 (GRCm39) |
G314S |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,743,394 (GRCm39) |
N135S |
probably benign |
Het |
| Mos |
A |
T |
4: 3,870,886 (GRCm39) |
L310Q |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,756 (GRCm39) |
T272I |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,771,064 (GRCm39) |
T1654A |
|
Het |
| Napsa |
G |
T |
7: 44,231,769 (GRCm39) |
G153W |
probably damaging |
Het |
| Nos3 |
A |
C |
5: 24,584,761 (GRCm39) |
I722L |
probably benign |
Het |
| Or10z1 |
A |
T |
1: 174,077,679 (GRCm39) |
D271E |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,743 (GRCm39) |
D176V |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,199 (GRCm39) |
H57L |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,072,513 (GRCm39) |
S166R |
probably benign |
Het |
| P4ha2 |
T |
A |
11: 54,002,390 (GRCm39) |
D109E |
possibly damaging |
Het |
| Pappa |
G |
T |
4: 65,042,918 (GRCm39) |
C47F |
unknown |
Het |
| Pbx3 |
T |
A |
2: 34,261,832 (GRCm39) |
H34L |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,887,738 (GRCm39) |
T234A |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,144,514 (GRCm39) |
R202W |
probably damaging |
Het |
| Pcdhga1 |
T |
G |
18: 37,795,251 (GRCm39) |
V85G |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,726,562 (GRCm39) |
I1807V |
unknown |
Het |
| Pgm3 |
A |
T |
9: 86,437,413 (GRCm39) |
F528Y |
probably benign |
Het |
| Pigz |
T |
C |
16: 31,763,694 (GRCm39) |
Y251H |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,821,161 (GRCm39) |
Q687H |
|
Het |
| Pja2 |
A |
T |
17: 64,590,432 (GRCm39) |
N700K |
unknown |
Het |
| Pkd2l2 |
T |
C |
18: 34,561,158 (GRCm39) |
F389L |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,446 (GRCm39) |
T32S |
possibly damaging |
Het |
| Pola2 |
A |
G |
19: 5,991,029 (GRCm39) |
V555A |
possibly damaging |
Het |
| Ppp4r3a |
A |
C |
12: 101,015,919 (GRCm39) |
C541G |
probably benign |
Het |
| Prr15l |
A |
T |
11: 96,825,599 (GRCm39) |
K76N |
probably damaging |
Het |
| Psg28 |
C |
A |
7: 18,156,905 (GRCm39) |
K443N |
possibly damaging |
Het |
| Ptch2 |
G |
T |
4: 116,954,197 (GRCm39) |
A76S |
probably damaging |
Het |
| Ptch2 |
A |
G |
4: 116,966,776 (GRCm39) |
D553G |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,000,855 (GRCm39) |
S982P |
probably benign |
Het |
| Rnd3 |
T |
C |
2: 51,038,844 (GRCm39) |
I15V |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,460,328 (GRCm39) |
K41E |
unknown |
Het |
| Sap25 |
T |
C |
5: 137,639,985 (GRCm39) |
S30P |
probably benign |
Het |
| Scfd2 |
A |
T |
5: 74,692,006 (GRCm39) |
I92N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,108 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sell |
T |
C |
1: 163,893,177 (GRCm39) |
I131T |
probably damaging |
Het |
| Sesn3 |
T |
A |
9: 14,225,850 (GRCm39) |
V195D |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,660,816 (GRCm39) |
V109A |
unknown |
Het |
| Skint2 |
T |
C |
4: 112,483,054 (GRCm39) |
I153T |
probably benign |
Het |
| Slc22a1 |
A |
G |
17: 12,886,142 (GRCm39) |
S164P |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,058,305 (GRCm39) |
G147D |
probably benign |
Het |
| Strip2 |
G |
C |
6: 29,931,824 (GRCm39) |
G456R |
probably benign |
Het |
| Synpo |
G |
T |
18: 60,735,472 (GRCm39) |
R825S |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,701 (GRCm39) |
D174G |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,389,316 (GRCm39) |
F433S |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,411,877 (GRCm39) |
S137P |
probably benign |
Het |
| Tbc1d15 |
A |
G |
10: 115,044,866 (GRCm39) |
F512S |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,870,115 (GRCm39) |
L226Q |
probably damaging |
Het |
| Tmod1 |
A |
G |
4: 46,078,368 (GRCm39) |
T59A |
probably damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,730,787 (GRCm39) |
M771K |
probably benign |
Het |
| Trim29 |
T |
C |
9: 43,238,350 (GRCm39) |
Y485H |
possibly damaging |
Het |
| Ttc17 |
T |
C |
2: 94,189,198 (GRCm39) |
K144E |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,287 (GRCm39) |
Y562H |
probably benign |
Het |
| Ugt2b5 |
T |
C |
5: 87,285,130 (GRCm39) |
H269R |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,798 (GRCm39) |
F471L |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,201 (GRCm39) |
D196V |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,117,292 (GRCm39) |
V680A |
probably damaging |
Het |
| Wee1 |
G |
A |
7: 109,721,689 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp1006 |
A |
T |
8: 129,944,149 (GRCm39) |
D91E |
unknown |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
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 |
|
R1968:Hivep3
|
UTSW |
4 |
119,953,435 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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'- CCTGAAACCTGCAGAAGAGG -3'
(R):5'- CCGGAGCTGTACAAACTACTTG -3'
Sequencing Primer
(F):5'- CCTGCAGAAGAGGCACACAAG -3'
(R):5'- GCTGTACAAACTACTTGAGAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation