Incidental Mutation 'R6694:Zfp976'
ID |
528496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp976
|
Ensembl Gene |
ENSMUSG00000074158 |
Gene Name |
zinc finger protein 976 |
Synonyms |
9830147E19Rik |
MMRRC Submission |
044812-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6694 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42263610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 76
(Y76N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098503]
[ENSMUST00000187616]
|
AlphaFold |
E9Q981 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098503
AA Change: Y77N
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096105 Gene: ENSMUSG00000074158 AA Change: Y77N
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 damaging
Transcript: ENSMUST00000187616
AA Change: Y76N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141023 Gene: ENSMUSG00000074158 AA Change: Y76N
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
Arhgap10 |
A |
G |
8: 78,137,692 (GRCm39) |
F300L |
probably benign |
Het |
Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
Mrps30 |
C |
T |
13: 118,523,497 (GRCm39) |
V92M |
possibly damaging |
Het |
Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
Nuak2 |
T |
G |
1: 132,260,048 (GRCm39) |
S609A |
probably damaging |
Het |
Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
Rapgef3 |
A |
G |
15: 97,657,865 (GRCm39) |
V246A |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Sae1 |
G |
T |
7: 16,102,461 (GRCm39) |
A171E |
probably damaging |
Het |
Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
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 |
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 |
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 |
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'- TTACATATGTAGGGTCTCACTCCA -3'
(R):5'- TCTAGTCCCGTGATAAAGCCC -3'
Sequencing Primer
(F):5'- CATGTGCTCGAAGATACTTGAGC -3'
(R):5'- TAGTCCCGTGATAAAGCCCTAAGATC -3'
|
Posted On |
2018-07-24 |