Incidental Mutation 'R3442:Zfp950'
| ID |
267435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp950
|
| Ensembl Gene |
ENSMUSG00000074733 |
| Gene Name |
zinc finger protein 950 |
| Synonyms |
Gm34518, Zfp826, BC029127 |
| MMRRC Submission |
040660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R3442 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
61042692-61129297 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 61107170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 149
(C149*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122927]
[ENSMUST00000127117]
[ENSMUST00000127290]
[ENSMUST00000143264]
[ENSMUST00000178819]
[ENSMUST00000180544]
[ENSMUST00000205712]
[ENSMUST00000205854]
|
| AlphaFold |
A0A0U1RQ46 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099260
AA Change: C149*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122927
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143264
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205854
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit some postnatal lethality, altered craniofacial structures, kidney defects, embryonic hemorrhaging and cell migration defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,246,583 (GRCm39) |
Y26* |
probably null |
Het |
| Adam30 |
T |
C |
3: 98,069,886 (GRCm39) |
I573T |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,341,840 (GRCm39) |
D480E |
probably benign |
Het |
| Dmbt1 |
G |
A |
7: 130,707,979 (GRCm39) |
C1407Y |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,339,669 (GRCm39) |
P654L |
probably damaging |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpx1 |
C |
G |
9: 108,216,549 (GRCm39) |
T13S |
probably benign |
Het |
| Grik3 |
C |
A |
4: 125,587,763 (GRCm39) |
L628M |
probably damaging |
Het |
| Grik3 |
T |
A |
4: 125,587,764 (GRCm39) |
L628Q |
probably damaging |
Het |
| Gsap |
A |
G |
5: 21,483,125 (GRCm39) |
Y610C |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Msmb |
A |
G |
14: 31,872,173 (GRCm39) |
N55D |
probably benign |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,667,712 (GRCm39) |
F471L |
probably damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,370 (GRCm39) |
T56A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,529,033 (GRCm39) |
R1792G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,458,449 (GRCm39) |
L182H |
probably damaging |
Het |
| Sla |
C |
T |
15: 66,655,509 (GRCm39) |
G210D |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,565,511 (GRCm39) |
V191M |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,729,062 (GRCm39) |
M659V |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,376,049 (GRCm39) |
Q371K |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,956,402 (GRCm39) |
D1143E |
probably benign |
Het |
| Zfat |
C |
T |
15: 67,973,430 (GRCm39) |
A1122T |
probably damaging |
Het |
|
| Other mutations in Zfp950 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB005:Zfp950
|
UTSW |
19 |
61,107,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Zfp950
|
UTSW |
19 |
61,107,549 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6062:Zfp950
|
UTSW |
19 |
61,108,863 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7231:Zfp950
|
UTSW |
19 |
61,107,650 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7285:Zfp950
|
UTSW |
19 |
61,107,550 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7399:Zfp950
|
UTSW |
19 |
61,107,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Zfp950
|
UTSW |
19 |
61,108,379 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7744:Zfp950
|
UTSW |
19 |
61,116,010 (GRCm39) |
splice site |
probably null |
|
|
R7811:Zfp950
|
UTSW |
19 |
61,108,353 (GRCm39) |
nonsense |
probably null |
|
|
R7928:Zfp950
|
UTSW |
19 |
61,107,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Zfp950
|
UTSW |
19 |
61,116,001 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9143:Zfp950
|
UTSW |
19 |
61,108,778 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9711:Zfp950
|
UTSW |
19 |
61,116,000 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTGGATCTCAGTAAACCC -3'
(R):5'- ACATACTGGAGAGAAACCCTATG -3'
Sequencing Primer
(F):5'- GTTGGATCTCAGTAAACCCAATAAC -3'
(R):5'- GGAGAGAAACCCTATGAATTTAACC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation