Incidental Mutation 'R1243:Zfp956'
| ID |
152064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp956
|
| Ensembl Gene |
ENSMUSG00000045466 |
| Gene Name |
zinc finger protein 956 |
| Synonyms |
AI894139 |
| MMRRC Submission |
039310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R1243 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
47930324-47942234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47932985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 87
(T87A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101445]
[ENSMUST00000140719]
|
| AlphaFold |
Q3UZY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101445
AA Change: T87A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098989
Gene: ENSMUSG00000045466
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3669
|
39 |
99 |
2.1e-9 |
PFAM |
|
KRAB
|
129 |
191 |
2.4e-1 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
3.58e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130490
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135828
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000140719
AA Change: T87A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114227
Gene: ENSMUSG00000045466
AA Change: T87A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3669
|
22 |
101 |
2.4e-16 |
PFAM |
|
Blast:KRAB
|
129 |
179 |
2e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174790
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
C |
T |
2: 25,468,570 (GRCm39) |
R447Q |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,687 (GRCm39) |
S1587G |
probably benign |
Het |
| Cyp24a1 |
T |
C |
2: 170,337,326 (GRCm39) |
E154G |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,622,303 (GRCm39) |
R1012C |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,120,882 (GRCm39) |
L2135P |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,364,941 (GRCm39) |
R578G |
possibly damaging |
Het |
| Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
| Myh3 |
T |
C |
11: 66,981,279 (GRCm39) |
I714T |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,924,540 (GRCm39) |
L1251P |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,537 (GRCm39) |
Y604C |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,617 (GRCm39) |
S87G |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,672,670 (GRCm39) |
Q1091L |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,784,054 (GRCm39) |
D117N |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,678,089 (GRCm39) |
L1114P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,559,944 (GRCm39) |
A304T |
possibly damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,210 (GRCm39) |
E236V |
possibly damaging |
Het |
|
| Other mutations in Zfp956 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Zfp956
|
APN |
6 |
47,940,346 (GRCm39) |
missense |
probably benign |
0.28 |
|
ANU74:Zfp956
|
UTSW |
6 |
47,940,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0603:Zfp956
|
UTSW |
6 |
47,932,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Zfp956
|
UTSW |
6 |
47,940,678 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1999:Zfp956
|
UTSW |
6 |
47,940,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Zfp956
|
UTSW |
6 |
47,941,359 (GRCm39) |
makesense |
probably null |
|
|
R2150:Zfp956
|
UTSW |
6 |
47,940,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Zfp956
|
UTSW |
6 |
47,939,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Zfp956
|
UTSW |
6 |
47,939,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4751:Zfp956
|
UTSW |
6 |
47,940,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4832:Zfp956
|
UTSW |
6 |
47,928,987 (GRCm39) |
unclassified |
probably benign |
|
|
R5325:Zfp956
|
UTSW |
6 |
47,928,012 (GRCm39) |
unclassified |
probably benign |
|
|
R5523:Zfp956
|
UTSW |
6 |
47,930,455 (GRCm39) |
start gained |
probably benign |
|
|
R6842:Zfp956
|
UTSW |
6 |
47,940,763 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7131:Zfp956
|
UTSW |
6 |
47,932,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7367:Zfp956
|
UTSW |
6 |
47,940,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Zfp956
|
UTSW |
6 |
47,933,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9074:Zfp956
|
UTSW |
6 |
47,939,462 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9248:Zfp956
|
UTSW |
6 |
47,934,437 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9452:Zfp956
|
UTSW |
6 |
47,940,370 (GRCm39) |
missense |
probably benign |
|
|
R9464:Zfp956
|
UTSW |
6 |
47,941,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGTTCCAGGACTGGCATATGG -3'
(R):5'- GACAACTGTTGCTGCCCAAACATAC -3'
Sequencing Primer
(F):5'- TATGGGGACTGACCTCCAAC -3'
(R):5'- GCTCCTTAAAGTCCATAGTGACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation