Incidental Mutation 'R5332:Zfp974'
| ID |
423305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp974
|
| Ensembl Gene |
ENSMUSG00000070709 |
| Gene Name |
zinc finger protein 974 |
| Synonyms |
1700049G17Rik |
| MMRRC Submission |
042914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5332 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27606817-27628885 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 27625715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 52
(S52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098639]
[ENSMUST00000129341]
|
| AlphaFold |
Q3UVF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098639
|
| SMART Domains |
Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
99 |
121 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
127 |
149 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
155 |
177 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
201 |
223 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
229 |
251 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
257 |
279 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
285 |
307 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
313 |
335 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
341 |
363 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
369 |
391 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
397 |
419 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
425 |
447 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
453 |
475 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
481 |
503 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
509 |
531 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
537 |
559 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
565 |
587 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
593 |
615 |
4.61e-5 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
705 |
727 |
2.37e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129341
AA Change: S52A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000115940
Gene: ENSMUSG00000070709
AA Change: S52A
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
75 |
7.5e-37 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181644
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,251,459 (GRCm39) |
|
probably null |
Het |
| Ace |
T |
A |
11: 105,864,705 (GRCm39) |
|
probably null |
Het |
| Bax |
T |
C |
7: 45,116,195 (GRCm39) |
D2G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,703 (GRCm39) |
Y795F |
probably damaging |
Het |
| Coro2b |
T |
C |
9: 62,336,512 (GRCm39) |
D254G |
probably damaging |
Het |
| Crhbp |
G |
T |
13: 95,572,963 (GRCm39) |
P261H |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,125,065 (GRCm39) |
D452G |
probably benign |
Het |
| Gm8444 |
T |
C |
15: 81,727,902 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
T |
A |
11: 57,218,447 (GRCm39) |
M900K |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,559 (GRCm39) |
H116R |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k2 |
A |
G |
18: 32,340,509 (GRCm39) |
D172G |
probably damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Mpdz |
A |
C |
4: 81,210,817 (GRCm39) |
H1689Q |
probably damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,953,283 (GRCm39) |
A176V |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,729 (GRCm39) |
T85S |
possibly damaging |
Het |
| Otud7a |
T |
A |
7: 63,385,574 (GRCm39) |
I352N |
probably damaging |
Het |
| Ptrh1 |
T |
C |
2: 32,666,758 (GRCm39) |
V109A |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,682,428 (GRCm39) |
T14A |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,683,645 (GRCm39) |
L173Q |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,733,038 (GRCm39) |
S603P |
probably damaging |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scgb2b19 |
T |
C |
7: 32,978,006 (GRCm39) |
N97S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,965,029 (GRCm39) |
I872N |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,125,984 (GRCm39) |
E421G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,083,276 (GRCm39) |
Y273C |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,903,052 (GRCm39) |
I459L |
probably benign |
Het |
|
| Other mutations in Zfp974 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00836:Zfp974
|
APN |
7 |
27,610,315 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01805:Zfp974
|
APN |
7 |
27,611,689 (GRCm39) |
splice site |
probably benign |
|
|
IGL02313:Zfp974
|
APN |
7 |
27,611,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02449:Zfp974
|
APN |
7 |
27,611,152 (GRCm39) |
missense |
probably benign |
|
|
R0362:Zfp974
|
UTSW |
7 |
27,626,819 (GRCm39) |
splice site |
probably benign |
|
|
R0372:Zfp974
|
UTSW |
7 |
27,620,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0379:Zfp974
|
UTSW |
7 |
27,610,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0699:Zfp974
|
UTSW |
7 |
27,611,416 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0791:Zfp974
|
UTSW |
7 |
27,609,510 (GRCm39) |
nonsense |
probably null |
|
|
R1411:Zfp974
|
UTSW |
7 |
27,610,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1567:Zfp974
|
UTSW |
7 |
27,610,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1747:Zfp974
|
UTSW |
7 |
27,610,506 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1837:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1838:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1839:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2311:Zfp974
|
UTSW |
7 |
27,609,866 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4006:Zfp974
|
UTSW |
7 |
27,611,677 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4303:Zfp974
|
UTSW |
7 |
27,609,657 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4541:Zfp974
|
UTSW |
7 |
27,625,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4771:Zfp974
|
UTSW |
7 |
27,625,733 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4889:Zfp974
|
UTSW |
7 |
27,610,244 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5537:Zfp974
|
UTSW |
7 |
27,611,671 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R5906:Zfp974
|
UTSW |
7 |
27,610,230 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5908:Zfp974
|
UTSW |
7 |
27,610,382 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6419:Zfp974
|
UTSW |
7 |
27,610,940 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6654:Zfp974
|
UTSW |
7 |
27,625,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6731:Zfp974
|
UTSW |
7 |
27,611,074 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7162:Zfp974
|
UTSW |
7 |
27,610,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7316:Zfp974
|
UTSW |
7 |
27,609,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7484:Zfp974
|
UTSW |
7 |
27,611,559 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7663:Zfp974
|
UTSW |
7 |
27,611,110 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7664:Zfp974
|
UTSW |
7 |
27,610,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8052:Zfp974
|
UTSW |
7 |
27,610,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Zfp974
|
UTSW |
7 |
27,610,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8700:Zfp974
|
UTSW |
7 |
27,609,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8938:Zfp974
|
UTSW |
7 |
27,610,311 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8972:Zfp974
|
UTSW |
7 |
27,610,589 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9212:Zfp974
|
UTSW |
7 |
27,610,052 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9236:Zfp974
|
UTSW |
7 |
27,610,342 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9335:Zfp974
|
UTSW |
7 |
27,611,476 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9436:Zfp974
|
UTSW |
7 |
27,611,094 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9740:Zfp974
|
UTSW |
7 |
27,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAAAACGAAGGAACTCAGCTC -3'
(R):5'- TCCATCTTGAAAGCTTCCCCAG -3'
Sequencing Primer
(F):5'- TGTAGACTAGGCTAGCCTGGAACTC -3'
(R):5'- TGAAAGCTTCCCCAGTTTCAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation