Incidental Mutation 'R3925:Zfp953'
| ID |
308253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp953
|
| Ensembl Gene |
ENSMUSG00000098905 |
| Gene Name |
zinc finger protein 953 |
| Synonyms |
E130120F12Rik |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67487373-67508691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67496002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 13
(Y13F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044819]
[ENSMUST00000081582]
[ENSMUST00000166080]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044819
AA Change: Y13F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781
AA Change: Y13F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.15e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081582
AA Change: Y13F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076700
Gene: ENSMUSG00000098905
AA Change: Y13F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.15e-23 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
8.94e-3 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
1.06e-4 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
6.88e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166080
|
| SMART Domains |
Protein: ENSMUSP00000126669
Gene: ENSMUSG00000098692
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
3.07e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170543
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,324,025 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
|
| Other mutations in Zfp953 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03034:Zfp953
|
APN |
13 |
67,491,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03347:Zfp953
|
APN |
13 |
67,491,490 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0111:Zfp953
|
UTSW |
13 |
67,491,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Zfp953
|
UTSW |
13 |
67,493,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2518:Zfp953
|
UTSW |
13 |
67,496,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4777:Zfp953
|
UTSW |
13 |
67,491,193 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5647:Zfp953
|
UTSW |
13 |
67,491,536 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6232:Zfp953
|
UTSW |
13 |
67,491,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6481:Zfp953
|
UTSW |
13 |
67,496,001 (GRCm39) |
nonsense |
probably null |
|
|
R7202:Zfp953
|
UTSW |
13 |
67,491,706 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7543:Zfp953
|
UTSW |
13 |
67,495,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8155:Zfp953
|
UTSW |
13 |
67,491,535 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8516:Zfp953
|
UTSW |
13 |
67,493,419 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9317:Zfp953
|
UTSW |
13 |
67,491,457 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9765:Zfp953
|
UTSW |
13 |
67,491,478 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Z1177:Zfp953
|
UTSW |
13 |
67,491,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCGAGATACTGTACAAAGG -3'
(R):5'- CGTGAAGAATATACATGGTGTGTG -3'
Sequencing Primer
(F):5'- CAAAGGGAGAAACTTTCGTGGTTATC -3'
(R):5'- TCCTAGTCACTGATGGAGCATGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation