Incidental Mutation 'R6864:Zfp831'
ID |
535790 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp831
|
Ensembl Gene |
ENSMUSG00000050600 |
Gene Name |
zinc finger protein 831 |
Synonyms |
ENSMUSG00000050600, OTTMUSG00000017459 |
MMRRC Submission |
044964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6864 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
174485327-174552625 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 174488533 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1069
(N1069K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059452]
|
AlphaFold |
A2ADM8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059452
AA Change: N1069K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000060255 Gene: ENSMUSG00000050600 AA Change: N1069K
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 |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
AU040320 |
T |
A |
4: 126,741,612 (GRCm39) |
V940D |
probably damaging |
Het |
Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
Lcorl |
T |
A |
5: 45,904,546 (GRCm39) |
K177N |
probably damaging |
Het |
Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
Oxr1 |
T |
G |
15: 41,686,783 (GRCm39) |
V555G |
probably damaging |
Het |
Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
Rai14 |
G |
T |
15: 10,633,254 (GRCm39) |
S45R |
possibly damaging |
Het |
Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
Zfp536 |
A |
G |
7: 37,267,940 (GRCm39) |
L492P |
probably damaging |
Het |
Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
probably damaging |
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 |
|
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'- CTGGTCCAGGTTAAGGGATG -3'
(R):5'- CCGGTTTCTGCTGGTTCAAG -3'
Sequencing Primer
(F):5'- AACATCCTAGTGGTTGGGCACTC -3'
(R):5'- CTGCTGGTTCAAGGAAATATCC -3'
|
Posted On |
2018-10-18 |