Incidental Mutation 'R5047:Zfp976'
| ID |
394413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp976
|
| Ensembl Gene |
ENSMUSG00000074158 |
| Gene Name |
zinc finger protein 976 |
| Synonyms |
9830147E19Rik |
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42258950-42292012 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 42262843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 331
(C331*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098503]
[ENSMUST00000187616]
|
| AlphaFold |
E9Q981 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000098503
AA Change: C332*
|
| SMART Domains |
Protein: ENSMUSP00000096105
Gene: ENSMUSG00000074158
AA Change: C332*
| 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 null
Transcript: ENSMUST00000187616
AA Change: C331*
|
| SMART Domains |
Protein: ENSMUSP00000141023
Gene: ENSMUSG00000074158
AA Change: C331*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fcgr1 |
A |
T |
3: 96,193,200 (GRCm39) |
F266I |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
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 |
|
|
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'- CTGGGATGTAAGAAGGCTTTATCA -3'
(R):5'- TTCACACCAGAGTAATCTCCGAA -3'
Sequencing Primer
(F):5'- TCATGCATTCGAAGATAGCTGG -3'
(R):5'- ACCAGAGTAATCTCCGAATACATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation