Incidental Mutation 'R5152:Zfp831'
| ID |
395422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp831
|
| Ensembl Gene |
ENSMUSG00000050600 |
| Gene Name |
zinc finger protein 831 |
| Synonyms |
ENSMUSG00000050600, OTTMUSG00000017459 |
| MMRRC Submission |
042734-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174485327-174552625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 174486357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059452]
|
| AlphaFold |
A2ADM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059452
AA Change: V344A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: V344A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
135 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
143 |
165 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
171 |
195 |
7.78e-3 |
SMART |
|
low complexity region
|
201 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
1520 |
1529 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
99% (83/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
| Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
| Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
| Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
| Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
| Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,546,074 (GRCm39) |
|
probably benign |
Het |
| Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
| Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
| Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
| Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
| Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
| Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
| Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
| Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,991,481 (GRCm39) |
D586Y |
probably damaging |
Het |
| Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,400,725 (GRCm39) |
N535I |
probably damaging |
Het |
| Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
| Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,781,507 (GRCm39) |
E312G |
probably benign |
Het |
| Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
| Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,552,154 (GRCm39) |
C787S |
probably damaging |
Het |
| Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
| Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
| Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
| Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
| Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
| Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
| Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
| Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
| Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
| Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
| Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
| Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
| Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
|
| Other mutations in Zfp831 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Zfp831
|
APN |
2 |
174,488,078 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL00091:Zfp831
|
APN |
2 |
174,487,451 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00764:Zfp831
|
APN |
2 |
174,487,701 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01538:Zfp831
|
APN |
2 |
174,486,399 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01700:Zfp831
|
APN |
2 |
174,486,711 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01718:Zfp831
|
APN |
2 |
174,485,631 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02221:Zfp831
|
APN |
2 |
174,485,519 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02250:Zfp831
|
APN |
2 |
174,489,994 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03209:Zfp831
|
APN |
2 |
174,487,059 (GRCm39) |
missense |
probably benign |
0.40 |
|
D4043:Zfp831
|
UTSW |
2 |
174,487,059 (GRCm39) |
missense |
probably benign |
0.40 |
|
FR4304:Zfp831
|
UTSW |
2 |
174,487,274 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Zfp831
|
UTSW |
2 |
174,487,273 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp831
|
UTSW |
2 |
174,487,275 (GRCm39) |
small insertion |
probably benign |
|
|
FR4449:Zfp831
|
UTSW |
2 |
174,487,264 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Zfp831
|
UTSW |
2 |
174,487,261 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp831
|
UTSW |
2 |
174,487,276 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp831
|
UTSW |
2 |
174,487,269 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Zfp831
|
UTSW |
2 |
174,487,264 (GRCm39) |
small insertion |
probably benign |
|
|
IGL02802:Zfp831
|
UTSW |
2 |
174,486,945 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
P0028:Zfp831
|
UTSW |
2 |
174,487,139 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
PIT4531001:Zfp831
|
UTSW |
2 |
174,488,516 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0631:Zfp831
|
UTSW |
2 |
174,487,083 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0644:Zfp831
|
UTSW |
2 |
174,487,656 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0782:Zfp831
|
UTSW |
2 |
174,488,423 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1156:Zfp831
|
UTSW |
2 |
174,488,710 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1280:Zfp831
|
UTSW |
2 |
174,545,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1709:Zfp831
|
UTSW |
2 |
174,487,683 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1883:Zfp831
|
UTSW |
2 |
174,545,870 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1884:Zfp831
|
UTSW |
2 |
174,545,870 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2127:Zfp831
|
UTSW |
2 |
174,489,917 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2137:Zfp831
|
UTSW |
2 |
174,547,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2268:Zfp831
|
UTSW |
2 |
174,486,034 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2330:Zfp831
|
UTSW |
2 |
174,489,882 (GRCm39) |
nonsense |
probably null |
|
|
R3547:Zfp831
|
UTSW |
2 |
174,499,476 (GRCm39) |
missense |
probably benign |
|
|
R3821:Zfp831
|
UTSW |
2 |
174,485,816 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4163:Zfp831
|
UTSW |
2 |
174,485,822 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4232:Zfp831
|
UTSW |
2 |
174,547,447 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4778:Zfp831
|
UTSW |
2 |
174,488,600 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4820:Zfp831
|
UTSW |
2 |
174,547,097 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4912:Zfp831
|
UTSW |
2 |
174,486,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Zfp831
|
UTSW |
2 |
174,547,103 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5723:Zfp831
|
UTSW |
2 |
174,487,200 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5741:Zfp831
|
UTSW |
2 |
174,486,945 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5888:Zfp831
|
UTSW |
2 |
174,485,420 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5975:Zfp831
|
UTSW |
2 |
174,485,885 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6092:Zfp831
|
UTSW |
2 |
174,547,299 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6158:Zfp831
|
UTSW |
2 |
174,485,651 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6212:Zfp831
|
UTSW |
2 |
174,487,661 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6233:Zfp831
|
UTSW |
2 |
174,488,490 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6248:Zfp831
|
UTSW |
2 |
174,486,308 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6255:Zfp831
|
UTSW |
2 |
174,488,214 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6460:Zfp831
|
UTSW |
2 |
174,488,360 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6477:Zfp831
|
UTSW |
2 |
174,545,960 (GRCm39) |
missense |
probably benign |
|
|
R6864:Zfp831
|
UTSW |
2 |
174,488,533 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7396:Zfp831
|
UTSW |
2 |
174,487,002 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7447:Zfp831
|
UTSW |
2 |
174,487,896 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7499:Zfp831
|
UTSW |
2 |
174,485,816 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7662:Zfp831
|
UTSW |
2 |
174,487,934 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7857:Zfp831
|
UTSW |
2 |
174,547,035 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7889:Zfp831
|
UTSW |
2 |
174,487,097 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7896:Zfp831
|
UTSW |
2 |
174,488,921 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8074:Zfp831
|
UTSW |
2 |
174,486,528 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8089:Zfp831
|
UTSW |
2 |
174,486,717 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8438:Zfp831
|
UTSW |
2 |
174,486,796 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8716:Zfp831
|
UTSW |
2 |
174,547,049 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8757:Zfp831
|
UTSW |
2 |
174,487,874 (GRCm39) |
missense |
probably benign |
|
|
R8759:Zfp831
|
UTSW |
2 |
174,487,874 (GRCm39) |
missense |
probably benign |
|
|
R8899:Zfp831
|
UTSW |
2 |
174,485,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8976:Zfp831
|
UTSW |
2 |
174,487,079 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9146:Zfp831
|
UTSW |
2 |
174,487,461 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9257:Zfp831
|
UTSW |
2 |
174,488,156 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9324:Zfp831
|
UTSW |
2 |
174,547,113 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9467:Zfp831
|
UTSW |
2 |
174,486,789 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9729:Zfp831
|
UTSW |
2 |
174,487,938 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0021:Zfp831
|
UTSW |
2 |
174,547,662 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Zfp831
|
UTSW |
2 |
174,485,981 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGAGTTTTCACTAGCCAGC -3'
(R):5'- CATGGTCCAACTGTGGGTCATC -3'
Sequencing Primer
(F):5'- TTTCACTAGCCAGCCCGCAG -3'
(R):5'- GTCATCTACCACCGCCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation