Incidental Mutation 'R9575:Zfp976'
| ID |
722239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp976
|
| Ensembl Gene |
ENSMUSG00000074158 |
| Gene Name |
zinc finger protein 976 |
| Synonyms |
9830147E19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R9575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42262041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 600
(T600A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098503]
[ENSMUST00000187616]
|
| AlphaFold |
E9Q981 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098503
AA Change: T600A
|
| SMART Domains |
Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: T600A
| 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 |
probably benign
Transcript: ENSMUST00000187616
AA Change: T599A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: T599A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,935,231 (GRCm39) |
R15G |
unknown |
Het |
| Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
| Fastk |
A |
G |
5: 24,650,067 (GRCm39) |
S27P |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
| Igsf3 |
A |
G |
3: 101,338,625 (GRCm39) |
Y313C |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
| Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,303 (GRCm39) |
C301S |
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 |
|
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 |
|
|
Z1088:Zfp976
|
UTSW |
7 |
42,262,184 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCGGTGTGAATAGGCTTCA -3'
(R):5'- TTGCAATCCCACTATCTTCGAATG -3'
Sequencing Primer
(F):5'- CGGTGTGAATAGGCTTCATCACAC -3'
(R):5'- CCAGCTATCTTCGAATGCATGAAAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation