Incidental Mutation 'R3121:Zfp976'
| ID |
263228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp976
|
| Ensembl Gene |
ENSMUSG00000074158 |
| Gene Name |
zinc finger protein 976 |
| Synonyms |
9830147E19Rik |
| MMRRC Submission |
040594-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R3121 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42262938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 300
(C300R)
|
| 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: C301R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: C301R
| 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: C300R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: C300R
| 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 |
|
| Meta Mutation Damage Score |
0.6257 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,966,091 (GRCm39) |
M423K |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,255,246 (GRCm39) |
W780R |
probably damaging |
Het |
| Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
| Amph |
T |
A |
13: 19,297,316 (GRCm39) |
L354* |
probably null |
Het |
| Ankk1 |
G |
A |
9: 49,338,267 (GRCm39) |
L9F |
probably benign |
Het |
| Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
| Bzw2 |
A |
C |
12: 36,170,788 (GRCm39) |
|
probably null |
Het |
| Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
| Ccdc50 |
G |
T |
16: 27,228,139 (GRCm39) |
R102L |
possibly damaging |
Het |
| Cep83 |
T |
C |
10: 94,622,700 (GRCm39) |
V592A |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,685,792 (GRCm39) |
|
probably benign |
Het |
| Cidec |
C |
A |
6: 113,405,086 (GRCm39) |
V195L |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,923,289 (GRCm39) |
|
probably benign |
Het |
| Cntrob |
A |
T |
11: 69,213,526 (GRCm39) |
L88* |
probably null |
Het |
| Dnah17 |
C |
T |
11: 117,931,912 (GRCm39) |
V3687M |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,328,729 (GRCm39) |
I4599T |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
| Fam98b |
A |
G |
2: 117,098,408 (GRCm39) |
T293A |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,460,138 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
T |
11: 55,202,622 (GRCm39) |
P151T |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,778,419 (GRCm39) |
M497K |
probably damaging |
Het |
| Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
| Gm525 |
C |
T |
11: 88,979,374 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,386,448 (GRCm39) |
T1190K |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
| Homez |
T |
C |
14: 55,094,778 (GRCm39) |
E310G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,138 (GRCm39) |
I1746V |
probably benign |
Het |
| Igkv1-35 |
T |
A |
6: 69,988,641 (GRCm39) |
H6L |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,356,622 (GRCm39) |
S354P |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,596,599 (GRCm39) |
T127A |
probably damaging |
Het |
| Klra4 |
G |
T |
6: 130,040,141 (GRCm39) |
Q44K |
probably benign |
Het |
| L3mbtl3 |
A |
G |
10: 26,220,119 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
| Magea14 |
A |
T |
X: 51,057,968 (GRCm39) |
Y239* |
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,790,698 (GRCm39) |
I285T |
probably damaging |
Het |
| Or4a47 |
T |
A |
2: 89,665,858 (GRCm39) |
I144L |
probably benign |
Het |
| Or6c6 |
A |
G |
10: 129,186,552 (GRCm39) |
N40S |
possibly damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,271 (GRCm39) |
Q77L |
possibly damaging |
Het |
| Pramel20 |
T |
A |
4: 143,297,583 (GRCm39) |
M1K |
probably null |
Het |
| Proser3 |
A |
G |
7: 30,239,796 (GRCm39) |
V436A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,653,524 (GRCm39) |
N834S |
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,230,741 (GRCm39) |
C1262* |
probably null |
Het |
| Sec24b |
C |
T |
3: 129,795,953 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
G |
3: 28,775,898 (GRCm39) |
Q336R |
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,958,724 (GRCm39) |
K13E |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,489,977 (GRCm39) |
M786K |
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,964,808 (GRCm39) |
V122E |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
| Zbbx |
T |
C |
3: 74,989,153 (GRCm39) |
T317A |
possibly 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 |
|
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'- CTCGAAGATAGGTGAGCTGTGC -3'
(R):5'- TGCTATCTTCGAATTCATGAAAGAACA -3'
Sequencing Primer
(F):5'- AGCTGTGCAAAGGCTTTACC -3'
(R):5'- CATACTGGAGTGAGACCCTACATATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation