Incidental Mutation 'R2137:Zfp831'
| ID |
235863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp831
|
| Ensembl Gene |
ENSMUSG00000050600 |
| Gene Name |
zinc finger protein 831 |
| Synonyms |
ENSMUSG00000050600, OTTMUSG00000017459 |
| MMRRC Submission |
040140-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2137 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174485327-174552625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 174547539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 1574
(K1574R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059452]
|
| AlphaFold |
A2ADM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059452
AA Change: K1574R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: K1574R
| 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 |
0.0999 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (60/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd24 |
C |
T |
10: 81,482,143 (GRCm39) |
T88I |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,364,675 (GRCm39) |
V49D |
probably damaging |
Het |
| Bub1b |
G |
T |
2: 118,467,199 (GRCm39) |
E841* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,027,836 (GRCm39) |
N527I |
probably damaging |
Het |
| Cdh22 |
G |
A |
2: 164,958,314 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,550,127 (GRCm39) |
L262P |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,797 (GRCm39) |
H120R |
possibly damaging |
Het |
| Col4a2 |
T |
C |
8: 11,483,749 (GRCm39) |
S890P |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,340,978 (GRCm39) |
I2248V |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,112,665 (GRCm39) |
E1675G |
probably damaging |
Het |
| Faiml |
G |
A |
9: 99,114,545 (GRCm39) |
P115S |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,915,745 (GRCm39) |
D62V |
possibly damaging |
Het |
| Gak |
C |
T |
5: 108,754,743 (GRCm39) |
|
probably null |
Het |
| Galntl6 |
C |
T |
8: 58,988,939 (GRCm39) |
|
probably null |
Het |
| Glyr1 |
T |
C |
16: 4,836,346 (GRCm39) |
Y501C |
probably benign |
Het |
| Gm9847 |
G |
T |
12: 14,545,082 (GRCm39) |
|
noncoding transcript |
Het |
| Gria4 |
T |
G |
9: 4,427,026 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
G |
2: 24,044,672 (GRCm39) |
N24S |
probably benign |
Het |
| Il6st |
C |
A |
13: 112,639,392 (GRCm39) |
H606N |
possibly damaging |
Het |
| Itprid1 |
A |
G |
6: 55,866,174 (GRCm39) |
Q189R |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,389 (GRCm39) |
F202L |
probably damaging |
Het |
| Kif17 |
T |
A |
4: 137,989,978 (GRCm39) |
D55E |
probably damaging |
Het |
| Klf1 |
C |
T |
8: 85,629,775 (GRCm39) |
A200V |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,629,275 (GRCm39) |
Y497* |
probably null |
Het |
| Kng2 |
G |
T |
16: 22,816,076 (GRCm39) |
|
probably benign |
Het |
| Lats1 |
T |
C |
10: 7,577,611 (GRCm39) |
V245A |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,254 (GRCm39) |
D193V |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,974,695 (GRCm39) |
V332D |
possibly damaging |
Het |
| Mss51 |
T |
C |
14: 20,537,591 (GRCm39) |
I47V |
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,827,861 (GRCm39) |
T19M |
probably benign |
Het |
| Nampt |
T |
A |
12: 32,880,309 (GRCm39) |
N67K |
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,107,776 (GRCm39) |
I1607K |
probably damaging |
Het |
| Nudt4 |
T |
C |
10: 95,399,600 (GRCm39) |
Q7R |
probably damaging |
Het |
| Or5b119 |
A |
G |
19: 13,457,173 (GRCm39) |
Y130H |
probably damaging |
Het |
| Or5b121 |
T |
A |
19: 13,507,802 (GRCm39) |
I255N |
probably damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,273,709 (GRCm39) |
M565L |
probably benign |
Het |
| Phactr1 |
T |
G |
13: 43,288,651 (GRCm39) |
F639V |
possibly damaging |
Het |
| Plod3 |
C |
A |
5: 137,017,571 (GRCm39) |
R165S |
probably damaging |
Het |
| Polr2b |
T |
A |
5: 77,468,193 (GRCm39) |
N164K |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,491 (GRCm39) |
G52S |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,468,382 (GRCm39) |
|
probably null |
Het |
| Rheb |
A |
G |
5: 25,012,601 (GRCm39) |
|
probably null |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,905,817 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
T |
9: 75,584,092 (GRCm39) |
D136E |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,923 (GRCm39) |
L172F |
probably damaging |
Het |
| Slc35c2 |
A |
G |
2: 165,123,299 (GRCm39) |
Y113H |
probably damaging |
Het |
| Slc47a1 |
T |
A |
11: 61,235,318 (GRCm39) |
D505V |
probably benign |
Het |
| Snap29 |
C |
A |
16: 17,246,113 (GRCm39) |
D244E |
possibly damaging |
Het |
| Taar1 |
T |
C |
10: 23,797,168 (GRCm39) |
F289L |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,893,568 (GRCm39) |
N871Y |
probably damaging |
Het |
| Tmem108 |
T |
A |
9: 103,377,162 (GRCm39) |
T96S |
possibly damaging |
Het |
| Tnk2 |
G |
T |
16: 32,489,620 (GRCm39) |
|
probably null |
Het |
| Trak1 |
T |
A |
9: 121,302,028 (GRCm39) |
M928K |
possibly damaging |
Het |
| Tuba3b |
A |
G |
6: 145,564,559 (GRCm39) |
I110V |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,022,281 (GRCm39) |
|
probably benign |
Het |
| Ugt1a9 |
T |
A |
1: 87,998,759 (GRCm39) |
C70S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,151,410 (GRCm39) |
I68K |
possibly damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,845 (GRCm39) |
E682G |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,778,481 (GRCm39) |
|
probably null |
Het |
| Zfp809 |
T |
C |
9: 22,146,434 (GRCm39) |
V41A |
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 |
|
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 |
|
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'- GAGGCCTTCACCTGGTAAAC -3'
(R):5'- GTTTATCCCAAAAGAGCCCTAGG -3'
Sequencing Primer
(F):5'- GGCCTTCACCTGGTAAACAATCAC -3'
(R):5'- TTCTCTGGGATGACATCAGATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation