Incidental Mutation 'R5968:Zfp957'
ID |
470711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp957
|
Ensembl Gene |
ENSMUSG00000071262 |
Gene Name |
zinc finger protein 957 |
Synonyms |
AU017455 |
MMRRC Submission |
043249-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.365)
|
Stock # |
R5968 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
79449795-79484807 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79451496 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 101
(C101Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040802]
[ENSMUST00000161649]
|
AlphaFold |
Q3UT76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040802
AA Change: C101Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039470 Gene: ENSMUSG00000071262 AA Change: C101Y
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
low complexity region
|
29 |
53 |
N/A |
INTRINSIC |
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
AT_hook
|
255 |
267 |
4.76e0 |
SMART |
AT_hook
|
298 |
310 |
4.76e0 |
SMART |
AT_hook
|
348 |
360 |
2.48e0 |
SMART |
low complexity region
|
390 |
398 |
N/A |
INTRINSIC |
AT_hook
|
422 |
434 |
5.38e0 |
SMART |
PHD
|
507 |
554 |
1.18e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161649
AA Change: C101Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124930 Gene: ENSMUSG00000071262 AA Change: C101Y
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
low complexity region
|
29 |
53 |
N/A |
INTRINSIC |
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
low complexity region
|
220 |
231 |
N/A |
INTRINSIC |
AT_hook
|
255 |
267 |
4.76e0 |
SMART |
AT_hook
|
298 |
310 |
4.76e0 |
SMART |
AT_hook
|
348 |
360 |
2.48e0 |
SMART |
low complexity region
|
390 |
398 |
N/A |
INTRINSIC |
AT_hook
|
422 |
434 |
5.38e0 |
SMART |
PHD
|
507 |
554 |
1.18e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
Flii |
T |
G |
11: 60,611,038 (GRCm39) |
I464L |
probably benign |
Het |
Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
|
Other mutations in Zfp957 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00672:Zfp957
|
APN |
14 |
79,450,838 (GRCm39) |
missense |
unknown |
|
IGL01646:Zfp957
|
APN |
14 |
79,451,331 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02692:Zfp957
|
APN |
14 |
79,450,825 (GRCm39) |
missense |
unknown |
|
R0632:Zfp957
|
UTSW |
14 |
79,450,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R1018:Zfp957
|
UTSW |
14 |
79,450,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Zfp957
|
UTSW |
14 |
79,451,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R2165:Zfp957
|
UTSW |
14 |
79,451,053 (GRCm39) |
missense |
probably benign |
0.06 |
R2411:Zfp957
|
UTSW |
14 |
79,451,782 (GRCm39) |
missense |
unknown |
|
R2517:Zfp957
|
UTSW |
14 |
79,451,494 (GRCm39) |
missense |
probably damaging |
0.99 |
R3195:Zfp957
|
UTSW |
14 |
79,450,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R4825:Zfp957
|
UTSW |
14 |
79,451,796 (GRCm39) |
start codon destroyed |
probably null |
|
R4881:Zfp957
|
UTSW |
14 |
79,450,849 (GRCm39) |
missense |
unknown |
|
R5138:Zfp957
|
UTSW |
14 |
79,450,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R5174:Zfp957
|
UTSW |
14 |
79,450,828 (GRCm39) |
missense |
unknown |
|
R5531:Zfp957
|
UTSW |
14 |
79,450,622 (GRCm39) |
missense |
unknown |
|
R5547:Zfp957
|
UTSW |
14 |
79,451,406 (GRCm39) |
missense |
probably benign |
0.03 |
R5677:Zfp957
|
UTSW |
14 |
79,450,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6897:Zfp957
|
UTSW |
14 |
79,451,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R6994:Zfp957
|
UTSW |
14 |
79,451,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R7105:Zfp957
|
UTSW |
14 |
79,450,402 (GRCm39) |
missense |
probably benign |
0.09 |
R7214:Zfp957
|
UTSW |
14 |
79,450,750 (GRCm39) |
missense |
unknown |
|
R7264:Zfp957
|
UTSW |
14 |
79,451,080 (GRCm39) |
missense |
probably damaging |
0.98 |
R8407:Zfp957
|
UTSW |
14 |
79,451,352 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8549:Zfp957
|
UTSW |
14 |
79,451,346 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Zfp957
|
UTSW |
14 |
79,451,578 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCTCCACTACAGAAGATTC -3'
(R):5'- TTCTGCAGATGAAGAGCCAAAG -3'
Sequencing Primer
(F):5'- CTGTTACCACAGGTCCCTGCAG -3'
(R):5'- AGAGAAGGAAGCCTGGGG -3'
|
Posted On |
2017-03-31 |