Incidental Mutation 'IGL01572:Zfp595'
| ID |
91147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp595
|
| Ensembl Gene |
ENSMUSG00000057842 |
| Gene Name |
zinc finger protein 595 |
| Synonyms |
A230042K10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67465465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 266
(I266K)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000109735
AA Change: I269K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: I269K
| 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 |
possibly damaging
Transcript: ENSMUST00000168892
AA Change: I269K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: I269K
| 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 |
possibly damaging
Transcript: ENSMUST00000169142
AA Change: I269K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: I269K
| 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 |
possibly damaging
Transcript: ENSMUST00000171466
AA Change: I266K
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: I266K
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8a1 |
A |
G |
5: 67,824,994 (GRCm39) |
V779A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,715 (GRCm39) |
S1199P |
probably damaging |
Het |
| BC051076 |
C |
A |
5: 88,112,549 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,784,621 (GRCm39) |
|
probably benign |
Het |
| Ceacam20 |
T |
C |
7: 19,708,199 (GRCm39) |
V268A |
probably damaging |
Het |
| Cntn2 |
T |
G |
1: 132,455,909 (GRCm39) |
D203A |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,051,300 (GRCm39) |
N148D |
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,861,010 (GRCm39) |
V2131E |
probably damaging |
Het |
| Dsn1 |
A |
G |
2: 156,841,054 (GRCm39) |
|
probably null |
Het |
| Eif5b |
A |
T |
1: 38,061,335 (GRCm39) |
K409* |
probably null |
Het |
| Fam237b |
T |
A |
5: 5,625,475 (GRCm39) |
I57K |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,175,003 (GRCm39) |
V868A |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,843,189 (GRCm39) |
T767A |
probably benign |
Het |
| Ints7 |
T |
A |
1: 191,347,905 (GRCm39) |
V759E |
possibly damaging |
Het |
| Jarid2 |
A |
G |
13: 45,038,311 (GRCm39) |
T171A |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,917,378 (GRCm39) |
D158G |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,334,414 (GRCm39) |
R198G |
probably benign |
Het |
| Mst1r |
C |
A |
9: 107,788,791 (GRCm39) |
R437S |
probably damaging |
Het |
| Myh15 |
T |
A |
16: 48,920,585 (GRCm39) |
I458K |
possibly damaging |
Het |
| Or8k37 |
T |
C |
2: 86,469,283 (GRCm39) |
I256M |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,324,230 (GRCm39) |
N1418K |
probably benign |
Het |
| Sppl2a |
A |
G |
2: 126,762,232 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
G |
T |
1: 165,927,941 (GRCm39) |
A557E |
probably benign |
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 |
|
|
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 |
|
R1162:Zfp595
|
UTSW |
13 |
67,465,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation