Incidental Mutation 'R7396:Zfp831'
| ID |
573795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp831
|
| Ensembl Gene |
ENSMUSG00000050600 |
| Gene Name |
zinc finger protein 831 |
| Synonyms |
ENSMUSG00000050600, OTTMUSG00000017459 |
| MMRRC Submission |
045478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
174485327-174552625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 174487002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 559
(C559F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059452]
|
| AlphaFold |
A2ADM8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059452
AA Change: C559F
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: C559F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830403N18Rik |
G |
T |
X: 55,184,140 (GRCm39) |
|
probably null |
Het |
| Abcb5 |
A |
G |
12: 118,831,609 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,351,722 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,373,052 (GRCm39) |
L185H |
probably damaging |
Het |
| Actr1a |
G |
A |
19: 46,368,068 (GRCm39) |
T293I |
probably benign |
Het |
| Adig |
T |
C |
2: 158,347,836 (GRCm39) |
L50P |
unknown |
Het |
| Ankrd28 |
A |
G |
14: 31,424,159 (GRCm39) |
S994P |
probably benign |
Het |
| Ankrd35 |
T |
A |
3: 96,590,813 (GRCm39) |
D366E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,950,427 (GRCm39) |
Y927* |
probably null |
Het |
| Asxl2 |
T |
A |
12: 3,492,529 (GRCm39) |
I38N |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,780,057 (GRCm39) |
I1092V |
|
Het |
| B4galnt1 |
A |
G |
10: 127,007,485 (GRCm39) |
E462G |
possibly damaging |
Het |
| BC048671 |
T |
A |
6: 90,280,273 (GRCm39) |
V63E |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,988,889 (GRCm39) |
V406A |
probably damaging |
Het |
| Btn1a1 |
T |
G |
13: 23,645,668 (GRCm39) |
I234L |
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,928,432 (GRCm39) |
S436A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,870,374 (GRCm39) |
|
probably null |
Het |
| Ces1b |
G |
T |
8: 93,789,757 (GRCm39) |
N390K |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,451,927 (GRCm39) |
Q671R |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,455,524 (GRCm39) |
S523R |
|
Het |
| Dbr1 |
C |
A |
9: 99,465,443 (GRCm39) |
N340K |
probably damaging |
Het |
| Dram1 |
T |
A |
10: 88,176,507 (GRCm39) |
T73S |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,817,501 (GRCm39) |
R39S |
possibly damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,324,887 (GRCm39) |
I515S |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,094,111 (GRCm39) |
N434I |
probably benign |
Het |
| Ercc6 |
C |
T |
14: 32,291,762 (GRCm39) |
T1042I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,803,449 (GRCm39) |
P1057L |
possibly damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,278,091 (GRCm39) |
N29I |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,517,954 (GRCm39) |
D344G |
probably benign |
Het |
| Fgf15 |
G |
T |
7: 144,453,542 (GRCm39) |
V172L |
probably benign |
Het |
| Fmod |
T |
C |
1: 133,967,978 (GRCm39) |
V6A |
probably benign |
Het |
| Furin |
C |
A |
7: 80,047,862 (GRCm39) |
R86L |
probably benign |
Het |
| Gabrr1 |
T |
C |
4: 33,160,207 (GRCm39) |
V297A |
probably damaging |
Het |
| Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
| Helb |
T |
C |
10: 119,925,476 (GRCm39) |
D967G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,439,382 (GRCm39) |
T5601A |
possibly damaging |
Het |
| Hsbp1l1 |
G |
T |
18: 80,276,634 (GRCm39) |
P70Q |
not run |
Het |
| Hsd17b1 |
T |
C |
11: 100,970,033 (GRCm39) |
V155A |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,617 (GRCm39) |
M97K |
possibly damaging |
Het |
| Kcnj6 |
C |
A |
16: 94,563,306 (GRCm39) |
L397F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 46,014,801 (GRCm39) |
|
probably null |
Het |
| Lgi2 |
A |
T |
5: 52,695,753 (GRCm39) |
I402N |
probably damaging |
Het |
| Lrat |
T |
A |
3: 82,810,590 (GRCm39) |
R144* |
probably null |
Het |
| Mfhas1 |
G |
T |
8: 36,057,353 (GRCm39) |
L609F |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,495,994 (GRCm39) |
I398K |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,362,152 (GRCm39) |
D1821V |
unknown |
Het |
| Myh2 |
T |
C |
11: 67,085,554 (GRCm39) |
|
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,234,044 (GRCm39) |
E386G |
probably damaging |
Het |
| Ndufaf3 |
C |
T |
9: 108,443,802 (GRCm39) |
V76M |
probably damaging |
Het |
| Neurod4 |
T |
C |
10: 130,106,891 (GRCm39) |
T128A |
probably damaging |
Het |
| Ogfod1 |
T |
A |
8: 94,765,615 (GRCm39) |
D59E |
probably benign |
Het |
| Or2j6 |
C |
T |
7: 139,980,476 (GRCm39) |
R161H |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,477 (GRCm39) |
V205A |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,558 (GRCm39) |
S315N |
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,466,522 (GRCm39) |
V1513D |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,589,902 (GRCm39) |
T734K |
unknown |
Het |
| Phc2 |
A |
G |
4: 128,641,954 (GRCm39) |
R759G |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,375 (GRCm39) |
N1176K |
probably benign |
Het |
| Plec |
T |
A |
15: 76,059,089 (GRCm39) |
Y3616F |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,282,707 (GRCm39) |
T426N |
probably benign |
Het |
| Rictor |
A |
G |
15: 6,816,462 (GRCm39) |
T1245A |
not run |
Het |
| Rilp |
T |
C |
11: 75,401,712 (GRCm39) |
V164A |
probably damaging |
Het |
| Rnf39 |
A |
T |
17: 37,257,971 (GRCm39) |
T168S |
probably damaging |
Het |
| Rptor |
C |
G |
11: 119,763,181 (GRCm39) |
Q922E |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,396 (GRCm39) |
L236Q |
probably damaging |
Het |
| Skint7 |
A |
G |
4: 111,845,324 (GRCm39) |
T379A |
probably benign |
Het |
| Spata22 |
C |
A |
11: 73,236,702 (GRCm39) |
T336N |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,547 (GRCm39) |
S232P |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,110,722 (GRCm39) |
C98S |
possibly damaging |
Het |
| Stard6 |
T |
C |
18: 70,633,506 (GRCm39) |
V171A |
possibly damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,072 (GRCm39) |
|
probably null |
Het |
| Traf7 |
T |
C |
17: 24,728,519 (GRCm39) |
D621G |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,277,973 (GRCm39) |
T353M |
possibly damaging |
Het |
| Trim68 |
A |
T |
7: 102,327,569 (GRCm39) |
Y461* |
probably null |
Het |
| Usp1 |
A |
G |
4: 98,814,688 (GRCm39) |
|
probably benign |
Het |
| Vmn2r42 |
T |
A |
7: 8,195,641 (GRCm39) |
I502F |
probably benign |
Het |
| Wbp4 |
C |
A |
14: 79,714,261 (GRCm39) |
G84C |
probably damaging |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp787 |
A |
G |
7: 6,135,106 (GRCm39) |
*382Q |
probably null |
Het |
| Zgpat |
G |
C |
2: 181,007,882 (GRCm39) |
A140P |
probably benign |
Het |
| Zscan4e |
T |
A |
7: 11,041,002 (GRCm39) |
Y290F |
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 |
|
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 |
|
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'- GTTCTAAGTTGTGGCCAGAGC -3'
(R):5'- AAGTCCAGTTCTGTCCCCTG -3'
Sequencing Primer
(F):5'- CAACGGGACCCACAGGATG -3'
(R):5'- CCTCCCTGGTGGTTGGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation