Incidental Mutation 'IGL02171:Zfp595'
| ID |
283563 |
| 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 # |
IGL02171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67464719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 518
(N518Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129905
(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: N518Y
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: N518Y
| 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: N518Y
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: N518Y
| 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: N518Y
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: N518Y
| 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 benign
Transcript: ENSMUST00000171466
AA Change: N515Y
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: N515Y
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,921,237 (GRCm39) |
I772M |
probably benign |
Het |
| Abcg4 |
C |
A |
9: 44,186,306 (GRCm39) |
|
probably benign |
Het |
| Abo |
A |
G |
2: 26,738,969 (GRCm39) |
I18T |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,777,921 (GRCm39) |
|
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,208,333 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
G |
A |
5: 67,895,808 (GRCm39) |
S557L |
probably damaging |
Het |
| Bora |
G |
T |
14: 99,284,758 (GRCm39) |
D3Y |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,246,972 (GRCm39) |
D323G |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,498 (GRCm39) |
R441L |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,370,895 (GRCm39) |
Y608F |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,037,555 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,883,040 (GRCm39) |
E2524G |
probably benign |
Het |
| Garem1 |
C |
T |
18: 21,262,298 (GRCm39) |
D839N |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,470 (GRCm39) |
V145E |
possibly damaging |
Het |
| Gvin3 |
G |
T |
7: 106,200,548 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,178,590 (GRCm39) |
K1062* |
probably null |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,573 (GRCm39) |
D2G |
probably benign |
Het |
| Lemd3 |
T |
A |
10: 120,769,527 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
C |
T |
14: 40,876,455 (GRCm39) |
|
probably benign |
Het |
| Mdh1 |
T |
C |
11: 21,507,438 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,945,578 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
C |
A |
12: 89,159,933 (GRCm39) |
P20T |
probably damaging |
Het |
| Nudt1 |
A |
G |
5: 140,323,348 (GRCm39) |
E100G |
probably damaging |
Het |
| Or2y1e |
T |
A |
11: 49,218,862 (GRCm39) |
F208Y |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,285 (GRCm39) |
D70V |
probably damaging |
Het |
| Palb2 |
A |
C |
7: 121,706,809 (GRCm39) |
S1083A |
probably damaging |
Het |
| Phc2 |
T |
G |
4: 128,604,858 (GRCm39) |
F198C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,379,542 (GRCm39) |
D1056G |
possibly damaging |
Het |
| Psg17 |
A |
G |
7: 18,552,712 (GRCm39) |
Y188H |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,543 (GRCm39) |
I1906F |
probably damaging |
Het |
| Sidt2 |
C |
A |
9: 45,864,068 (GRCm39) |
R150L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,314,043 (GRCm39) |
I144T |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,332 (GRCm39) |
S38P |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,816 (GRCm39) |
M843L |
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 |
|
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 |
2015-04-16 |
Incidental Mutation