Incidental Mutation 'R0319:Zfp595'
| ID |
25581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp595
|
| Ensembl Gene |
ENSMUSG00000057842 |
| Gene Name |
zinc finger protein 595 |
| Synonyms |
A230042K10Rik |
| MMRRC Submission |
038529-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67464577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 562
(A562V)
|
| 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: A565V
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: A565V
| 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: A565V
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: A565V
| 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: A565V
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: A565V
| 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: A562V
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: A562V
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (58/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
C |
7: 127,836,362 (GRCm39) |
V77G |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,877,428 (GRCm39) |
R663G |
probably benign |
Het |
| Acly |
A |
G |
11: 100,395,808 (GRCm39) |
V404A |
probably damaging |
Het |
| Actg2 |
T |
A |
6: 83,497,725 (GRCm39) |
I103F |
probably damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,919 (GRCm39) |
V120A |
probably damaging |
Het |
| Ankk1 |
T |
G |
9: 49,327,371 (GRCm39) |
T603P |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,215,898 (GRCm39) |
S33P |
possibly damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,983,710 (GRCm39) |
T748S |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,011,616 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,249,483 (GRCm39) |
L105P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,998,455 (GRCm39) |
V161A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,735,426 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cpne9 |
G |
A |
6: 113,271,654 (GRCm39) |
G338E |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,897,124 (GRCm39) |
P397S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Draxin |
A |
G |
4: 148,200,429 (GRCm39) |
L7P |
probably benign |
Het |
| Exosc7 |
T |
A |
9: 122,960,025 (GRCm39) |
|
probably benign |
Het |
| Far2 |
A |
G |
6: 148,058,968 (GRCm39) |
E218G |
probably damaging |
Het |
| Ggps1 |
A |
C |
13: 14,228,462 (GRCm39) |
N240K |
possibly damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,601,529 (GRCm39) |
|
probably benign |
Het |
| Kcnv2 |
A |
T |
19: 27,301,424 (GRCm39) |
Y425F |
probably benign |
Het |
| Kdelr2 |
T |
A |
5: 143,398,272 (GRCm39) |
F40I |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,207,195 (GRCm39) |
P173L |
probably benign |
Het |
| Kif20b |
G |
A |
19: 34,925,132 (GRCm39) |
|
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,638,691 (GRCm39) |
Y517N |
possibly damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,347 (GRCm39) |
S411P |
probably damaging |
Het |
| Lmo3 |
G |
A |
6: 138,354,309 (GRCm39) |
T85M |
probably damaging |
Het |
| Lvrn |
C |
A |
18: 46,997,820 (GRCm39) |
T256N |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,986 (GRCm39) |
|
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,133,155 (GRCm39) |
I157V |
possibly damaging |
Het |
| Mob3a |
A |
T |
10: 80,525,819 (GRCm39) |
V164E |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,587,864 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,712 (GRCm39) |
N276S |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,680 (GRCm39) |
C170* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,789,681 (GRCm39) |
I529F |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,490 (GRCm39) |
S865T |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,415,909 (GRCm39) |
R474Q |
probably benign |
Het |
| Rpl27 |
G |
A |
11: 101,334,321 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
G |
A |
16: 23,250,210 (GRCm39) |
E192K |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,837,592 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,570,884 (GRCm39) |
D140G |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,714,347 (GRCm39) |
N114S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,936 (GRCm39) |
R5756W |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,882,927 (GRCm39) |
E307G |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,018,749 (GRCm39) |
T44A |
probably benign |
Het |
| Trim67 |
A |
T |
8: 125,549,966 (GRCm39) |
Y532F |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,842,018 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,680,571 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,909,709 (GRCm39) |
I539M |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,600 (GRCm39) |
M51K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,941 (GRCm39) |
M787K |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,213,096 (GRCm39) |
|
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,895 (GRCm39) |
V8E |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,356 (GRCm39) |
T636A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-04-16 |
Incidental Mutation