Incidental Mutation 'PIT4581001:Zfp595'
| ID |
556527 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4581001 (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 67465949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 108
(S108P)
|
| 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 |
probably benign
Transcript: ENSMUST00000109735
AA Change: S108P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: S108P
| 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: ENSMUST00000168892
AA Change: S108P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: S108P
| 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: S108P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: S108P
| 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: ENSMUST00000171466
AA Change: S105P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: S105P
| 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: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam15 |
T |
C |
3: 89,251,139 (GRCm39) |
H522R |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,626,666 (GRCm39) |
I724N |
probably damaging |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,971 (GRCm39) |
I69T |
possibly damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,143,294 (GRCm39) |
I52V |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,370 (GRCm39) |
C210S |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,442,652 (GRCm39) |
E365G |
probably damaging |
Het |
| Dbi |
A |
T |
1: 120,047,642 (GRCm39) |
V85E |
probably damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,723 (GRCm39) |
I153M |
possibly damaging |
Het |
| Dock10 |
C |
A |
1: 80,483,163 (GRCm39) |
C2096F |
probably damaging |
Het |
| Eid3 |
T |
A |
10: 82,703,589 (GRCm39) |
I350K |
probably damaging |
Het |
| Fam83b |
A |
T |
9: 76,398,434 (GRCm39) |
F890I |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,703,160 (GRCm39) |
D308N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,140,302 (GRCm39) |
D822G |
unknown |
Het |
| Gabra5 |
T |
C |
7: 57,138,605 (GRCm39) |
T148A |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,430,011 (GRCm39) |
D526G |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,350 (GRCm39) |
T79S |
probably benign |
Het |
| Gon4l |
T |
G |
3: 88,802,821 (GRCm39) |
V1144G |
probably damaging |
Het |
| Ighv1-24 |
A |
T |
12: 114,736,803 (GRCm39) |
N32K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,484 (GRCm39) |
N341S |
possibly damaging |
Het |
| Mybph |
A |
G |
1: 134,122,479 (GRCm39) |
T175A |
probably benign |
Het |
| Mycn |
T |
C |
12: 12,990,244 (GRCm39) |
K51E |
possibly damaging |
Het |
| Myh14 |
T |
C |
7: 44,262,906 (GRCm39) |
N1763D |
probably benign |
Het |
| Myrip |
T |
C |
9: 120,296,583 (GRCm39) |
S831P |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,178,814 (GRCm39) |
A1314E |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,011,778 (GRCm39) |
Y599H |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,369,564 (GRCm39) |
G387V |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,995 (GRCm39) |
D119V |
probably damaging |
Het |
| Orai2 |
G |
A |
5: 136,179,364 (GRCm39) |
T223M |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,910 (GRCm39) |
E786G |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,576,374 (GRCm39) |
T749A |
probably benign |
Het |
| Pdzrn3 |
A |
G |
6: 101,128,464 (GRCm39) |
V734A |
probably benign |
Het |
| Pkd1l1 |
GCC |
GCCC |
11: 8,866,298 (GRCm39) |
|
probably null |
Het |
| Recql5 |
C |
A |
11: 115,823,682 (GRCm39) |
K21N |
possibly damaging |
Het |
| Rimbp3 |
G |
A |
16: 17,028,580 (GRCm39) |
S668N |
possibly damaging |
Het |
| Sdr42e1 |
A |
T |
8: 118,390,257 (GRCm39) |
I128N |
probably damaging |
Het |
| Shprh |
TAAAA |
T |
10: 11,068,238 (GRCm39) |
|
probably null |
Het |
| Slc15a2 |
A |
T |
16: 36,592,405 (GRCm39) |
C251S |
probably benign |
Het |
| Slc17a4 |
A |
T |
13: 24,086,001 (GRCm39) |
S329T |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,669,501 (GRCm39) |
V246A |
possibly damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,148,701 (GRCm39) |
S260R |
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,351,050 (GRCm39) |
I177L |
possibly damaging |
Het |
| Tmcc1 |
A |
G |
6: 116,020,417 (GRCm39) |
V345A |
|
Het |
| Tmod2 |
T |
C |
9: 75,504,583 (GRCm39) |
Y12C |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,790 (GRCm39) |
W1035R |
probably damaging |
Het |
| Trpc1 |
A |
G |
9: 95,618,974 (GRCm39) |
S126P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,564,305 (GRCm39) |
S28576P |
probably damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,858 (GRCm39) |
W255R |
probably benign |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,348 (GRCm39) |
K407* |
probably null |
Het |
| Vps13b |
G |
T |
15: 35,534,409 (GRCm39) |
W908C |
probably damaging |
Het |
| Ykt6 |
A |
G |
11: 5,912,747 (GRCm39) |
K150E |
possibly damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,265 (GRCm39) |
Y254H |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,956,503 (GRCm39) |
S832P |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,756 (GRCm39) |
F727L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,790,498 (GRCm39) |
V2151I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTTTAGAAAGGAATAATGAAGTGC -3'
(R):5'- ATGCAAGTGAGTAAATGTTGGTTTT -3'
Sequencing Primer
(F):5'- GCCACATACTTCACAGTTGTAGGG -3'
(R):5'- CTCAACTCTTACTCACCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation