Incidental Mutation 'R3195:Zfp957'
| ID |
267613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp957
|
| Ensembl Gene |
ENSMUSG00000071262 |
| Gene Name |
zinc finger protein 957 |
| Synonyms |
AU017455 |
| MMRRC Submission |
040616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R3195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79449795-79484807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79450332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 489
(V489A)
|
| 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: V489A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039470
Gene: ENSMUSG00000071262
AA Change: V489A
| 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: V489A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124930
Gene: ENSMUSG00000071262
AA Change: V489A
| 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 |
|
| Meta Mutation Damage Score |
0.4227 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
| Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
| Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
| Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
| Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
| Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
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 |
|
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 |
|
R5968:Zfp957
|
UTSW |
14 |
79,451,496 (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'- ACCTCACTGAGAAATTCTCCTC -3'
(R):5'- AAAGACTCTGCTGGAGGTCC -3'
Sequencing Primer
(F):5'- ACTGAGAAATTCTCCTCATTCAGC -3'
(R):5'- GGTCGCCCTCGTAAAAATGTAGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation