Incidental Mutation 'R6233:Zfp831'
| ID |
504734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp831
|
| Ensembl Gene |
ENSMUSG00000050600 |
| Gene Name |
zinc finger protein 831 |
| Synonyms |
ENSMUSG00000050600, OTTMUSG00000017459 |
| MMRRC Submission |
044361-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174485327-174552625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 174488490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1055
(D1055G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059452]
|
| AlphaFold |
A2ADM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059452
AA Change: D1055G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: D1055G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
T |
A |
2: 58,338,411 (GRCm39) |
N437I |
probably benign |
Het |
| Adam34l |
T |
G |
8: 44,078,949 (GRCm39) |
N425T |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,599,005 (GRCm39) |
T57S |
possibly damaging |
Het |
| Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
| Ankrd9 |
A |
T |
12: 110,943,554 (GRCm39) |
I160N |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,907,899 (GRCm39) |
T300A |
probably benign |
Het |
| Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
| Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
| Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
| Clmn |
A |
C |
12: 104,751,714 (GRCm39) |
L247R |
probably damaging |
Het |
| Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
| Dhrs7l |
T |
C |
12: 72,666,341 (GRCm39) |
Y110C |
probably damaging |
Het |
| Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
| Dmkn |
C |
A |
7: 30,479,104 (GRCm39) |
A280E |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsc3 |
C |
T |
18: 20,098,852 (GRCm39) |
G776R |
possibly damaging |
Het |
| Eefsec |
A |
G |
6: 88,335,526 (GRCm39) |
|
probably null |
Het |
| Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
| Eny2 |
A |
G |
15: 44,297,056 (GRCm39) |
|
probably null |
Het |
| F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
| Fbxo28 |
A |
G |
1: 182,169,073 (GRCm39) |
S22P |
unknown |
Het |
| Fcgbpl1 |
T |
C |
7: 27,830,885 (GRCm39) |
C33R |
probably damaging |
Het |
| Fcrlb |
A |
G |
1: 170,736,458 (GRCm39) |
I106T |
probably damaging |
Het |
| Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
| Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
| Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
| Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
| Gna12 |
A |
G |
5: 140,746,447 (GRCm39) |
F333L |
possibly damaging |
Het |
| Gria2 |
A |
G |
3: 80,614,510 (GRCm39) |
I510T |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
| Il1rap |
A |
G |
16: 26,529,256 (GRCm39) |
T310A |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
| Kcnk4 |
T |
C |
19: 6,905,697 (GRCm39) |
N90S |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,433,920 (GRCm39) |
A22V |
possibly damaging |
Het |
| Lamc1 |
A |
T |
1: 153,099,412 (GRCm39) |
D1520E |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,504,214 (GRCm39) |
L2585I |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
| Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
| Myh7b |
C |
T |
2: 155,473,719 (GRCm39) |
A1584V |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
| Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
| Or5b118 |
T |
C |
19: 13,449,104 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
| Or6c209 |
T |
C |
10: 129,483,165 (GRCm39) |
M56T |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
| Pilra |
T |
C |
5: 137,821,763 (GRCm39) |
T291A |
possibly damaging |
Het |
| Ppp1r9a |
G |
T |
6: 5,077,610 (GRCm39) |
D630Y |
probably damaging |
Het |
| Pros1 |
A |
C |
16: 62,719,284 (GRCm39) |
Q102P |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,495,462 (GRCm39) |
D407G |
probably benign |
Het |
| Rapgef5 |
G |
A |
12: 117,703,453 (GRCm39) |
|
probably null |
Het |
| Rbm25 |
G |
A |
12: 83,706,200 (GRCm39) |
A182T |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,740,391 (GRCm39) |
E236G |
possibly damaging |
Het |
| Robo3 |
T |
G |
9: 37,332,225 (GRCm39) |
Y891S |
probably damaging |
Het |
| Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
| Sdr16c6 |
T |
A |
4: 4,069,984 (GRCm39) |
I119F |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,076,245 (GRCm39) |
D566V |
possibly damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,953,590 (GRCm39) |
S767P |
possibly damaging |
Het |
| Slc23a1 |
A |
G |
18: 35,757,497 (GRCm39) |
I258T |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,929,456 (GRCm39) |
R338H |
probably benign |
Het |
| Sufu |
G |
A |
19: 46,464,071 (GRCm39) |
G428R |
probably damaging |
Het |
| Sult2a1 |
T |
C |
7: 13,566,600 (GRCm39) |
D125G |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
| Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,870,094 (GRCm39) |
V233G |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
T |
C |
6: 127,915,227 (GRCm39) |
Y114H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
| Usp44 |
G |
A |
10: 93,686,202 (GRCm39) |
C539Y |
probably damaging |
Het |
| Vmn2r73 |
G |
A |
7: 85,519,099 (GRCm39) |
P508S |
probably benign |
Het |
| Zfp871 |
CCACAC |
CC |
17: 32,994,494 (GRCm39) |
|
probably null |
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 |
|
R5152:Zfp831
|
UTSW |
2 |
174,486,357 (GRCm39) |
missense |
probably benign |
0.33 |
|
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 |
|
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'- CTAGCTGGTCCAGGTTAAGG -3'
(R):5'- CCGGTTTCTGCTGGTTCAAG -3'
Sequencing Primer
(F):5'- CTGGTCCAGGTTAAGGGATGG -3'
(R):5'- CTGCTGGTTCAAGGAAATATCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation