Incidental Mutation 'R8295:Zfp595'
ID |
638898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp595
|
Ensembl Gene |
ENSMUSG00000057842 |
Gene Name |
zinc finger protein 595 |
Synonyms |
A230042K10Rik |
MMRRC Submission |
067714-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8295 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67461062-67480634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67464764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 503
(C503R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105357
(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: C503R
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105357 Gene: ENSMUSG00000057842 AA Change: C503R
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: ENSMUST00000168892
AA Change: C503R
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126862 Gene: ENSMUSG00000057842 AA Change: C503R
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: C503R
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129905 Gene: ENSMUSG00000057842 AA Change: C503R
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 |
unknown
Transcript: ENSMUST00000171466
AA Change: C500R
|
SMART Domains |
Protein: ENSMUSP00000127010 Gene: ENSMUSG00000057842 AA Change: C500R
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
G |
7: 119,974,188 (GRCm39) |
I915S |
probably benign |
Het |
Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
Ahdc1 |
T |
A |
4: 132,788,762 (GRCm39) |
M1K |
probably null |
Het |
Akr1c12 |
T |
G |
13: 4,322,355 (GRCm39) |
D229A |
probably benign |
Het |
Ankfn1 |
C |
T |
11: 89,302,923 (GRCm39) |
V32M |
probably benign |
Het |
C7 |
A |
T |
15: 5,018,327 (GRCm39) |
C839S |
probably damaging |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,416 (GRCm39) |
D769G |
probably damaging |
Het |
Clk2 |
G |
T |
3: 89,080,766 (GRCm39) |
D251Y |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,362,726 (GRCm39) |
P211Q |
probably benign |
Het |
Dock8 |
G |
A |
19: 25,100,600 (GRCm39) |
A703T |
probably benign |
Het |
Eif2d |
T |
A |
1: 131,085,988 (GRCm39) |
L161Q |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,789,959 (GRCm39) |
I1079V |
probably benign |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,262,234 (GRCm39) |
V1104A |
probably benign |
Het |
H2-Ab1 |
A |
T |
17: 34,483,816 (GRCm39) |
Y59F |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,115,914 (GRCm39) |
T772A |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,640,523 (GRCm39) |
V501A |
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,486,184 (GRCm39) |
T70S |
probably benign |
Het |
Obox2 |
A |
G |
7: 15,131,247 (GRCm39) |
T118A |
probably benign |
Het |
Or52ab4 |
C |
T |
7: 102,987,474 (GRCm39) |
T71I |
probably benign |
Het |
Or8k17 |
T |
C |
2: 86,066,916 (GRCm39) |
M88V |
probably benign |
Het |
Pih1d2 |
C |
T |
9: 50,532,379 (GRCm39) |
H146Y |
probably damaging |
Het |
Pou2af1 |
C |
T |
9: 51,144,305 (GRCm39) |
S73F |
possibly damaging |
Het |
Rnase2a |
T |
A |
14: 51,493,096 (GRCm39) |
I90L |
probably benign |
Het |
S100a16 |
T |
A |
3: 90,449,336 (GRCm39) |
C4S |
probably benign |
Het |
Sprr1a |
T |
C |
3: 92,391,849 (GRCm39) |
K51E |
possibly damaging |
Het |
Tmem168 |
A |
T |
6: 13,602,850 (GRCm39) |
M172K |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,797,565 (GRCm39) |
S1371P |
probably damaging |
Het |
Trav21-dv12 |
T |
A |
14: 54,113,510 (GRCm39) |
L13* |
probably null |
Het |
Vmn1r234 |
T |
A |
17: 21,449,101 (GRCm39) |
V5D |
probably benign |
Het |
Vmn2r18 |
A |
G |
5: 151,508,621 (GRCm39) |
C168R |
probably damaging |
Het |
Vmn2r90 |
C |
T |
17: 17,948,358 (GRCm39) |
P535S |
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 |
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 |
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 |
PCR Primer
(F):5'- GGACTTGACTGATACATCCCAAG -3'
(R):5'- ACAAGTGTGAAGTATGTGGCA -3'
Sequencing Primer
(F):5'- GCCACATACTTCACACTTGTAGGG -3'
(R):5'- GTGGCAAAGCATTTGATTATCCATC -3'
|
Posted On |
2020-07-28 |