Incidental Mutation 'IGL02651:Zfp595'
ID |
302132 |
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 # |
IGL02651
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67469017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044819]
[ENSMUST00000109735]
[ENSMUST00000168892]
[ENSMUST00000169142]
[ENSMUST00000171466]
|
AlphaFold |
Q8BIN6 |
Predicted Effect |
silent
Transcript: ENSMUST00000044819
|
SMART Domains |
Protein: ENSMUSP00000049225 Gene: ENSMUSG00000098781
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
1.15e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109735
AA Change: D3G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105357 Gene: ENSMUSG00000057842 AA Change: D3G
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 benign
Transcript: ENSMUST00000168892
AA Change: D3G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000126862 Gene: ENSMUSG00000057842 AA Change: D3G
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 benign
Transcript: ENSMUST00000169142
AA Change: D3G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129905 Gene: ENSMUSG00000057842 AA Change: D3G
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
|
SMART Domains |
Protein: ENSMUSP00000127010 Gene: ENSMUSG00000057842
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
Cpsf3 |
T |
A |
12: 21,343,298 (GRCm39) |
M121K |
probably damaging |
Het |
Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
Glg1 |
C |
T |
8: 111,887,359 (GRCm39) |
M465I |
possibly damaging |
Het |
H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,012,114 (GRCm39) |
Y556C |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,828,631 (GRCm39) |
L425P |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
Tacr1 |
T |
C |
6: 82,469,622 (GRCm39) |
S169P |
probably damaging |
Het |
Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
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 |
|
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 |
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 |