Incidental Mutation 'R1162:Zfp595'
| ID |
100501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp595
|
| Ensembl Gene |
ENSMUSG00000057842 |
| Gene Name |
zinc finger protein 595 |
| Synonyms |
A230042K10Rik |
| MMRRC Submission |
039235-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67465259 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 335
(C335S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044819]
[ENSMUST00000109735]
[ENSMUST00000168892]
[ENSMUST00000169142]
[ENSMUST00000171466]
|
| AlphaFold |
Q8BIN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044819
|
| SMART Domains |
Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.15e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109735
AA Change: C338S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: C338S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.57e-30 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
2.79e-4 |
SMART |
|
PHD
|
222 |
283 |
4.64e0 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
8.94e-3 |
SMART |
|
PHD
|
334 |
395 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.04e-3 |
SMART |
|
PHD
|
446 |
507 |
1.12e0 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
2.95e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133177
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168892
AA Change: C338S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: C338S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.57e-30 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
2.79e-4 |
SMART |
|
PHD
|
222 |
283 |
4.64e0 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
8.94e-3 |
SMART |
|
PHD
|
334 |
395 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.04e-3 |
SMART |
|
PHD
|
446 |
507 |
1.12e0 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
2.95e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169142
AA Change: C338S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: C338S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.57e-30 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
2.79e-4 |
SMART |
|
PHD
|
222 |
283 |
4.64e0 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
8.94e-3 |
SMART |
|
PHD
|
334 |
395 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.04e-3 |
SMART |
|
PHD
|
446 |
507 |
1.12e0 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
2.95e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170543
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171466
AA Change: C335S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: C335S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
2 |
62 |
1.57e-30 |
SMART |
|
ZnF_C2H2
|
78 |
100 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
106 |
128 |
6.57e-1 |
SMART |
|
ZnF_C2H2
|
134 |
156 |
4.38e1 |
SMART |
|
ZnF_C2H2
|
162 |
184 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
190 |
212 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
2.79e-4 |
SMART |
|
PHD
|
219 |
280 |
4.64e0 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
8.94e-3 |
SMART |
|
PHD
|
331 |
392 |
1.2e1 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
1.04e-3 |
SMART |
|
PHD
|
443 |
504 |
1.12e0 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
582 |
604 |
2.95e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.7908 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
C |
4: 156,206,875 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
T |
A |
15: 11,277,544 (GRCm39) |
|
probably null |
Het |
| Ccn3 |
T |
A |
15: 54,611,178 (GRCm39) |
C104* |
probably null |
Het |
| Cops4 |
T |
C |
5: 100,678,023 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,861,891 (GRCm39) |
C125R |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,774,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,546,559 (GRCm39) |
H743L |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,647 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,178,738 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,395 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch1 |
A |
G |
7: 35,002,905 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
G |
14: 45,481,615 (GRCm39) |
I144V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,238,185 (GRCm39) |
S563P |
probably benign |
Het |
| Insl5 |
C |
T |
4: 102,875,438 (GRCm39) |
R104Q |
probably benign |
Het |
| Kcnj2 |
T |
A |
11: 110,963,793 (GRCm39) |
V395D |
probably benign |
Het |
| Ksr2 |
A |
G |
5: 117,693,020 (GRCm39) |
|
probably benign |
Het |
| Lrrc4 |
C |
A |
6: 28,831,083 (GRCm39) |
L177F |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,855,799 (GRCm39) |
E1506G |
possibly damaging |
Het |
| Morc3 |
A |
C |
16: 93,649,996 (GRCm39) |
Y259S |
probably damaging |
Het |
| Mrpl43 |
T |
G |
19: 44,994,797 (GRCm39) |
S13R |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,439 (GRCm39) |
N1724D |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,186 (GRCm39) |
M237T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,185,788 (GRCm39) |
|
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2h15 |
A |
T |
17: 38,441,984 (GRCm39) |
V33D |
possibly damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,735 (GRCm39) |
R233G |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,230,120 (GRCm39) |
N307S |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,973,117 (GRCm39) |
|
probably benign |
Het |
| Ppef2 |
A |
C |
5: 92,400,980 (GRCm39) |
F13L |
probably benign |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Sap130 |
C |
T |
18: 31,781,226 (GRCm39) |
P130S |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,634,710 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,506,087 (GRCm39) |
E940* |
probably null |
Het |
| Sgce |
A |
G |
6: 4,691,419 (GRCm39) |
|
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,600 (GRCm39) |
I155N |
probably damaging |
Het |
| Sirt2 |
A |
T |
7: 28,485,247 (GRCm39) |
D218V |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,952,549 (GRCm39) |
H315R |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,906,538 (GRCm39) |
Y306H |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,483 (GRCm39) |
V23A |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,282,407 (GRCm39) |
V429F |
possibly damaging |
Het |
| Trat1 |
T |
C |
16: 48,560,572 (GRCm39) |
S102G |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,461,191 (GRCm39) |
V156I |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,100,561 (GRCm39) |
T1076S |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,832,414 (GRCm39) |
Y481H |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,845,195 (GRCm39) |
I853F |
probably benign |
Het |
| Yrdc |
T |
C |
4: 124,748,254 (GRCm39) |
|
probably benign |
Het |
| Zfp872 |
A |
G |
9: 22,110,910 (GRCm39) |
S149G |
possibly damaging |
Het |
|
| Other mutations in Zfp595 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Zfp595
|
APN |
13 |
67,464,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL01572:Zfp595
|
APN |
13 |
67,465,465 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01836:Zfp595
|
APN |
13 |
67,480,525 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01924:Zfp595
|
APN |
13 |
67,465,847 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02171:Zfp595
|
APN |
13 |
67,464,719 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02376:Zfp595
|
APN |
13 |
67,464,514 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02651:Zfp595
|
APN |
13 |
67,469,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4581001:Zfp595
|
UTSW |
13 |
67,465,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0071:Zfp595
|
UTSW |
13 |
67,464,917 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0111:Zfp595
|
UTSW |
13 |
67,468,984 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0319:Zfp595
|
UTSW |
13 |
67,464,577 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0491:Zfp595
|
UTSW |
13 |
67,465,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1559:Zfp595
|
UTSW |
13 |
67,465,127 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3118:Zfp595
|
UTSW |
13 |
67,468,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3901:Zfp595
|
UTSW |
13 |
67,465,379 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4738:Zfp595
|
UTSW |
13 |
67,465,229 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4866:Zfp595
|
UTSW |
13 |
67,465,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4993:Zfp595
|
UTSW |
13 |
67,464,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5987:Zfp595
|
UTSW |
13 |
67,465,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6684:Zfp595
|
UTSW |
13 |
67,468,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Zfp595
|
UTSW |
13 |
67,465,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Zfp595
|
UTSW |
13 |
67,464,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7657:Zfp595
|
UTSW |
13 |
67,465,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Zfp595
|
UTSW |
13 |
67,465,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Zfp595
|
UTSW |
13 |
67,464,764 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8544:Zfp595
|
UTSW |
13 |
67,465,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Zfp595
|
UTSW |
13 |
67,468,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Zfp595
|
UTSW |
13 |
67,464,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9332:Zfp595
|
UTSW |
13 |
67,465,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9432:Zfp595
|
UTSW |
13 |
67,465,407 (GRCm39) |
nonsense |
probably null |
|
|
R9499:Zfp595
|
UTSW |
13 |
67,465,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9551:Zfp595
|
UTSW |
13 |
67,465,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation