Incidental Mutation 'R2160:Zfp976'
| ID |
235107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp976
|
| Ensembl Gene |
ENSMUSG00000074158 |
| Gene Name |
zinc finger protein 976 |
| Synonyms |
9830147E19Rik |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42263354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 161
(S161N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098503]
[ENSMUST00000187616]
|
| AlphaFold |
E9Q981 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098503
AA Change: S162N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: S162N
| 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 |
probably benign
Transcript: ENSMUST00000187616
AA Change: S161N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: S161N
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
| Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Nup58 |
A |
G |
14: 60,476,957 (GRCm39) |
V238A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
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 |
|
R1353:Zfp976
|
UTSW |
7 |
42,265,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
PCR Primer
(F):5'- ATAAGGTTTCCCTCCAGTATGTG -3'
(R):5'- GACACTCTGAAGTCTTTCAACATAG -3'
Sequencing Primer
(F):5'- CATGTTTTCGGAGATAACTCTGC -3'
(R):5'- GTAAAGTGCATGCATGTCAAAGTAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation