Incidental Mutation 'R7928:Zfp950'
| ID |
643443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp950
|
| Ensembl Gene |
ENSMUSG00000074733 |
| Gene Name |
zinc finger protein 950 |
| Synonyms |
Gm34518, Zfp826, BC029127 |
| MMRRC Submission |
045975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7928 (G1)
|
| Quality Score |
999 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
61042692-61129297 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 61107938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 382
(P382T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122927]
[ENSMUST00000127117]
[ENSMUST00000127290]
[ENSMUST00000143264]
[ENSMUST00000178819]
[ENSMUST00000180544]
[ENSMUST00000205712]
[ENSMUST00000205854]
|
| AlphaFold |
A0A0U1RQ46 |
| 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 damaging
Transcript: ENSMUST00000178819
AA Change: P31T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180544
AA Change: P382T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205854
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
97% (30/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
A |
15: 74,410,170 (GRCm39) |
W270R |
probably damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| App |
A |
T |
16: 84,775,134 (GRCm39) |
V501D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,278,927 (GRCm39) |
V97A |
possibly damaging |
Het |
| Cntrob |
A |
G |
11: 69,191,121 (GRCm39) |
L831P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,639,620 (GRCm39) |
S53P |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,321,661 (GRCm39) |
D3833G |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,838,302 (GRCm39) |
L1081P |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,889,335 (GRCm39) |
N185D |
|
Het |
| Dsn1 |
T |
C |
2: 156,847,932 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,359 (GRCm39) |
T1444A |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,094,459 (GRCm39) |
L1130P |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,898 (GRCm39) |
D1118G |
unknown |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gm11596 |
A |
G |
11: 99,683,622 (GRCm39) |
V166A |
unknown |
Het |
| Gm2696 |
A |
T |
10: 77,650,723 (GRCm39) |
T70S |
unknown |
Het |
| Gm5773 |
A |
G |
3: 93,680,997 (GRCm39) |
E223G |
probably damaging |
Het |
| Madd |
T |
A |
2: 91,007,233 (GRCm39) |
D293V |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,035,269 (GRCm39) |
T78A |
possibly damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,397 (GRCm39) |
I17F |
probably damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,984 (GRCm39) |
|
probably null |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,159,898 (GRCm39) |
Y826C |
possibly damaging |
Het |
| Rnf13 |
C |
A |
3: 57,671,729 (GRCm39) |
Q14K |
probably benign |
Het |
| Sec13 |
A |
G |
6: 113,706,601 (GRCm39) |
S271P |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,079,620 (GRCm39) |
L638P |
probably damaging |
Het |
| Sgsh |
T |
G |
11: 119,238,561 (GRCm39) |
H301P |
probably benign |
Het |
| Shh |
T |
C |
5: 28,666,404 (GRCm39) |
M161V |
possibly damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
| Stil |
C |
T |
4: 114,887,198 (GRCm39) |
H764Y |
probably damaging |
Het |
| Vmn1r203 |
C |
T |
13: 22,708,705 (GRCm39) |
T162I |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,712,722 (GRCm39) |
M214T |
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 |
|
R3442:Zfp950
|
UTSW |
19 |
61,107,170 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
|
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'- CGTGCAAAGGCTTTACCACAT -3'
(R):5'- AGCCTTTCCATGTTACAATCTTC -3'
Sequencing Primer
(F):5'- GACTGTTACGTGCAAAGGCTTTACC -3'
(R):5'- ACCCTATGAGTGTAATCAATGTGG -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation