Incidental Mutation 'R1353:Zfp976'
ID |
157095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp976
|
Ensembl Gene |
ENSMUSG00000074158 |
Gene Name |
zinc finger protein 976 |
Synonyms |
9830147E19Rik |
MMRRC Submission |
039418-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R1353 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42265442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 49
(D49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096105
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098503]
[ENSMUST00000187616]
|
AlphaFold |
E9Q981 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098503
AA Change: D49G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096105 Gene: ENSMUSG00000074158 AA Change: D49G
Domain | Start | End | E-Value | Type |
KRAB
|
4 |
66 |
1.73e-18 |
SMART |
ZnF_C2H2
|
131 |
153 |
7.78e-3 |
SMART |
ZnF_C2H2
|
159 |
181 |
1.67e-2 |
SMART |
ZnF_C2H2
|
187 |
209 |
5.9e-3 |
SMART |
ZnF_C2H2
|
215 |
237 |
1.38e-3 |
SMART |
ZnF_C2H2
|
243 |
265 |
8.94e-3 |
SMART |
ZnF_C2H2
|
271 |
293 |
2.24e-3 |
SMART |
ZnF_C2H2
|
299 |
321 |
1.03e-2 |
SMART |
ZnF_C2H2
|
327 |
349 |
1.58e-3 |
SMART |
ZnF_C2H2
|
355 |
377 |
7.9e-4 |
SMART |
ZnF_C2H2
|
383 |
405 |
5.9e-3 |
SMART |
ZnF_C2H2
|
411 |
433 |
2.57e-3 |
SMART |
ZnF_C2H2
|
439 |
461 |
3.16e-3 |
SMART |
ZnF_C2H2
|
467 |
489 |
1.26e-2 |
SMART |
ZnF_C2H2
|
495 |
517 |
8.34e-3 |
SMART |
ZnF_C2H2
|
523 |
545 |
3.63e-3 |
SMART |
ZnF_C2H2
|
551 |
573 |
4.79e-3 |
SMART |
ZnF_C2H2
|
579 |
601 |
9.73e-4 |
SMART |
ZnF_C2H2
|
607 |
629 |
3.63e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107994
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187616
AA Change: D48G
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141023 Gene: ENSMUSG00000074158 AA Change: D48G
Domain | Start | End | E-Value | Type |
KRAB
|
3 |
65 |
7.4e-21 |
SMART |
ZnF_C2H2
|
130 |
152 |
3.2e-5 |
SMART |
ZnF_C2H2
|
158 |
180 |
7.1e-5 |
SMART |
ZnF_C2H2
|
186 |
208 |
2.4e-5 |
SMART |
ZnF_C2H2
|
214 |
236 |
5.7e-6 |
SMART |
ZnF_C2H2
|
242 |
264 |
3.8e-5 |
SMART |
ZnF_C2H2
|
270 |
292 |
9.7e-6 |
SMART |
ZnF_C2H2
|
298 |
320 |
4.2e-5 |
SMART |
ZnF_C2H2
|
326 |
348 |
6.6e-6 |
SMART |
ZnF_C2H2
|
354 |
376 |
3.3e-6 |
SMART |
ZnF_C2H2
|
382 |
404 |
2.5e-5 |
SMART |
ZnF_C2H2
|
410 |
432 |
1e-5 |
SMART |
ZnF_C2H2
|
438 |
460 |
1.3e-5 |
SMART |
ZnF_C2H2
|
466 |
488 |
5.2e-5 |
SMART |
ZnF_C2H2
|
494 |
516 |
3.6e-5 |
SMART |
ZnF_C2H2
|
522 |
544 |
1.6e-5 |
SMART |
ZnF_C2H2
|
550 |
572 |
2e-5 |
SMART |
ZnF_C2H2
|
578 |
600 |
4e-6 |
SMART |
ZnF_C2H2
|
606 |
628 |
1.5e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Astn2 |
T |
C |
4: 66,184,572 (GRCm39) |
Q175R |
unknown |
Het |
Capn9 |
A |
C |
8: 125,332,305 (GRCm39) |
|
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Chd7 |
A |
G |
4: 8,839,556 (GRCm39) |
N1364S |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,178,033 (GRCm39) |
V3607E |
probably damaging |
Het |
Crb2 |
T |
C |
2: 37,677,293 (GRCm39) |
C262R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,856,055 (GRCm39) |
N204S |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,338,771 (GRCm39) |
T676A |
probably damaging |
Het |
Fancm |
G |
A |
12: 65,134,944 (GRCm39) |
V246M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,355,669 (GRCm39) |
S461P |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,293,220 (GRCm39) |
L394Q |
probably benign |
Het |
Hsdl2 |
G |
T |
4: 59,596,971 (GRCm39) |
|
probably null |
Het |
Klri2 |
C |
T |
6: 129,716,049 (GRCm39) |
G97S |
probably damaging |
Het |
Lypla2 |
T |
C |
4: 135,697,778 (GRCm39) |
I55V |
probably null |
Het |
Malrd1 |
A |
G |
2: 16,132,779 (GRCm39) |
D1900G |
unknown |
Het |
Map1b |
A |
G |
13: 99,563,834 (GRCm39) |
S2378P |
unknown |
Het |
Marchf3 |
A |
T |
18: 56,909,177 (GRCm39) |
|
probably null |
Het |
Myom2 |
G |
T |
8: 15,156,424 (GRCm39) |
W757L |
probably damaging |
Het |
Nat10 |
T |
A |
2: 103,584,418 (GRCm39) |
M120L |
possibly damaging |
Het |
Ncam2 |
T |
G |
16: 80,997,803 (GRCm39) |
M1R |
probably null |
Het |
Ncoa4 |
G |
T |
14: 31,892,815 (GRCm39) |
G33* |
probably null |
Het |
Or1j1 |
C |
A |
2: 36,702,926 (GRCm39) |
M59I |
possibly damaging |
Het |
Or1x2 |
G |
A |
11: 50,917,833 (GRCm39) |
M1I |
probably null |
Het |
Or2a20 |
T |
A |
6: 43,194,624 (GRCm39) |
M259K |
probably benign |
Het |
Or4p21 |
T |
C |
2: 88,276,895 (GRCm39) |
H129R |
probably benign |
Het |
Or6c38 |
C |
T |
10: 128,929,733 (GRCm39) |
V37I |
probably benign |
Het |
Or8b41 |
A |
C |
9: 38,055,024 (GRCm39) |
I198L |
probably benign |
Het |
Osbpl8 |
A |
G |
10: 111,112,340 (GRCm39) |
N485S |
probably damaging |
Het |
Pkdrej |
A |
T |
15: 85,703,119 (GRCm39) |
V939E |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,459,926 (GRCm39) |
E607G |
possibly damaging |
Het |
Rtel1 |
T |
A |
2: 180,991,024 (GRCm39) |
C285S |
probably benign |
Het |
Rtl1 |
A |
C |
12: 109,558,633 (GRCm39) |
C1069G |
probably benign |
Het |
Rtn4 |
C |
A |
11: 29,657,595 (GRCm39) |
A583E |
probably damaging |
Het |
Runx1 |
T |
A |
16: 92,485,939 (GRCm39) |
R32* |
probably null |
Het |
Sdcbp |
A |
G |
4: 6,381,057 (GRCm39) |
I67M |
probably damaging |
Het |
Slc22a12 |
G |
C |
19: 6,587,812 (GRCm39) |
L259V |
possibly damaging |
Het |
Sptlc2 |
A |
G |
12: 87,388,520 (GRCm39) |
S321P |
probably damaging |
Het |
Tmem30c |
C |
T |
16: 57,098,028 (GRCm39) |
G131D |
probably damaging |
Het |
Tnfaip2 |
A |
T |
12: 111,411,403 (GRCm39) |
Q9L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,910 (GRCm39) |
Y24661C |
probably damaging |
Het |
Vmn2r77 |
T |
G |
7: 86,451,394 (GRCm39) |
F427V |
probably benign |
Het |
Zcchc4 |
A |
G |
5: 52,964,419 (GRCm39) |
I292V |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,240 (GRCm39) |
H228Q |
probably damaging |
Het |
Zfp84 |
T |
A |
7: 29,475,600 (GRCm39) |
N97K |
probably benign |
Het |
Zgrf1 |
C |
T |
3: 127,405,452 (GRCm39) |
T1550I |
probably damaging |
Het |
|
Other mutations in Zfp976 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Zfp976
|
APN |
7 |
42,263,109 (GRCm39) |
missense |
unknown |
|
IGL01102:Zfp976
|
APN |
7 |
42,263,333 (GRCm39) |
nonsense |
probably null |
|
IGL01111:Zfp976
|
APN |
7 |
42,265,711 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01628:Zfp976
|
APN |
7 |
42,261,935 (GRCm39) |
missense |
unknown |
|
IGL02008:Zfp976
|
APN |
7 |
42,263,656 (GRCm39) |
splice site |
probably benign |
|
IGL02548:Zfp976
|
APN |
7 |
42,261,953 (GRCm39) |
missense |
unknown |
|
R0190:Zfp976
|
UTSW |
7 |
42,291,948 (GRCm39) |
start gained |
probably benign |
|
R0685:Zfp976
|
UTSW |
7 |
42,263,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R1310:Zfp976
|
UTSW |
7 |
42,262,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Zfp976
|
UTSW |
7 |
42,262,023 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1569:Zfp976
|
UTSW |
7 |
42,262,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Zfp976
|
UTSW |
7 |
42,265,424 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1829:Zfp976
|
UTSW |
7 |
42,265,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R1939:Zfp976
|
UTSW |
7 |
42,263,105 (GRCm39) |
missense |
unknown |
|
R1978:Zfp976
|
UTSW |
7 |
42,263,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R1981:Zfp976
|
UTSW |
7 |
42,263,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R2160:Zfp976
|
UTSW |
7 |
42,263,354 (GRCm39) |
missense |
probably benign |
|
R2192:Zfp976
|
UTSW |
7 |
42,262,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Zfp976
|
UTSW |
7 |
42,262,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Zfp976
|
UTSW |
7 |
42,265,749 (GRCm39) |
missense |
probably damaging |
0.99 |
R4724:Zfp976
|
UTSW |
7 |
42,262,457 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4943:Zfp976
|
UTSW |
7 |
42,261,846 (GRCm39) |
unclassified |
probably benign |
|
R5047:Zfp976
|
UTSW |
7 |
42,262,843 (GRCm39) |
nonsense |
probably null |
|
R5071:Zfp976
|
UTSW |
7 |
42,262,354 (GRCm39) |
nonsense |
probably null |
|
R5125:Zfp976
|
UTSW |
7 |
42,261,925 (GRCm39) |
splice site |
probably null |
|
R5178:Zfp976
|
UTSW |
7 |
42,261,925 (GRCm39) |
splice site |
probably null |
|
R5305:Zfp976
|
UTSW |
7 |
42,262,902 (GRCm39) |
missense |
probably benign |
0.00 |
R5777:Zfp976
|
UTSW |
7 |
42,263,504 (GRCm39) |
missense |
probably benign |
0.00 |
R6153:Zfp976
|
UTSW |
7 |
42,263,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R6694:Zfp976
|
UTSW |
7 |
42,263,610 (GRCm39) |
missense |
probably damaging |
0.99 |
R7226:Zfp976
|
UTSW |
7 |
42,262,684 (GRCm39) |
nonsense |
probably null |
|
R7479:Zfp976
|
UTSW |
7 |
42,262,603 (GRCm39) |
missense |
probably benign |
0.01 |
R7561:Zfp976
|
UTSW |
7 |
42,265,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Zfp976
|
UTSW |
7 |
42,262,959 (GRCm39) |
missense |
probably benign |
0.03 |
R8261:Zfp976
|
UTSW |
7 |
42,262,125 (GRCm39) |
missense |
unknown |
|
R8715:Zfp976
|
UTSW |
7 |
42,262,869 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8921:Zfp976
|
UTSW |
7 |
42,262,575 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9168:Zfp976
|
UTSW |
7 |
42,263,011 (GRCm39) |
nonsense |
probably null |
|
R9575:Zfp976
|
UTSW |
7 |
42,262,041 (GRCm39) |
missense |
unknown |
|
Z1088:Zfp976
|
UTSW |
7 |
42,262,184 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
|
Posted On |
2014-02-11 |