Incidental Mutation 'IGL01346:Zfp595'
ID |
75064 |
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 # |
IGL01346
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 67464749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 505
(K505*)
|
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 null
Transcript: ENSMUST00000109735
AA Change: K508*
|
SMART Domains |
Protein: ENSMUSP00000105357 Gene: ENSMUSG00000057842 AA Change: K508*
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 null
Transcript: ENSMUST00000168892
AA Change: K508*
|
SMART Domains |
Protein: ENSMUSP00000126862 Gene: ENSMUSG00000057842 AA Change: K508*
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 null
Transcript: ENSMUST00000169142
AA Change: K508*
|
SMART Domains |
Protein: ENSMUSP00000129905 Gene: ENSMUSG00000057842 AA Change: K508*
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 null
Transcript: ENSMUST00000171466
AA Change: K505*
|
SMART Domains |
Protein: ENSMUSP00000127010 Gene: ENSMUSG00000057842 AA Change: K505*
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zfp595 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |