Incidental Mutation 'R8931:Zfp536'
| ID |
680308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
068775-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8931 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37268721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 232
(Q232K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056338]
[ENSMUST00000175941]
[ENSMUST00000176114]
[ENSMUST00000176205]
[ENSMUST00000176534]
[ENSMUST00000176680]
|
| AlphaFold |
Q8K083 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056338
AA Change: Q232K
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: Q232K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
8.47e-4 |
SMART |
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
274 |
297 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
300 |
323 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
2.91e-2 |
SMART |
|
Pfam:zf-C2H2_assoc
|
657 |
739 |
6.6e-43 |
PFAM |
|
ZnF_C2H2
|
753 |
775 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
7.26e-3 |
SMART |
|
low complexity region
|
928 |
941 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1002 |
1025 |
7.29e0 |
SMART |
|
low complexity region
|
1198 |
1212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175941
AA Change: Q232K
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: Q232K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
8.47e-4 |
SMART |
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
274 |
297 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
300 |
323 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
2.91e-2 |
SMART |
|
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
775 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
7.26e-3 |
SMART |
|
low complexity region
|
928 |
941 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1002 |
1025 |
7.29e0 |
SMART |
|
low complexity region
|
1198 |
1212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176114
AA Change: Q232K
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: Q232K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
8.47e-4 |
SMART |
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
274 |
297 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
300 |
323 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
2.91e-2 |
SMART |
|
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
775 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
7.26e-3 |
SMART |
|
low complexity region
|
928 |
941 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1002 |
1025 |
7.29e0 |
SMART |
|
low complexity region
|
1198 |
1212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176205
AA Change: Q232K
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: Q232K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
158 |
180 |
8.47e-4 |
SMART |
|
low complexity region
|
193 |
205 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
274 |
297 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
300 |
323 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
631 |
653 |
2.91e-2 |
SMART |
|
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
775 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
781 |
803 |
7.26e-3 |
SMART |
|
low complexity region
|
928 |
941 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1002 |
1025 |
7.29e0 |
SMART |
|
low complexity region
|
1198 |
1212 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176680
|
| SMART Domains |
Protein: ENSMUSP00000135218
Gene: ENSMUSG00000043456
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
C |
17: 13,147,405 (GRCm39) |
P204R |
probably damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,803 (GRCm39) |
I250T |
possibly damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,976,603 (GRCm39) |
V455A |
probably damaging |
Het |
| BC051019 |
T |
C |
7: 109,315,286 (GRCm39) |
E323G |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,184,943 (GRCm39) |
N2S |
possibly damaging |
Het |
| Calm3 |
G |
C |
7: 16,651,398 (GRCm39) |
F66L |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,338,704 (GRCm39) |
T191S |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,770,323 (GRCm39) |
S104T |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,597,377 (GRCm39) |
C389S |
probably benign |
Het |
| Clhc1 |
C |
T |
11: 29,510,533 (GRCm39) |
Q195* |
probably null |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,808 (GRCm39) |
L350P |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,271,238 (GRCm39) |
E306G |
possibly damaging |
Het |
| Ddx25 |
T |
C |
9: 35,465,864 (GRCm39) |
N119S |
possibly damaging |
Het |
| Ephx2 |
G |
T |
14: 66,322,441 (GRCm39) |
|
probably benign |
Het |
| Ern2 |
C |
T |
7: 121,769,363 (GRCm39) |
A888T |
probably benign |
Het |
| Fbln2 |
A |
T |
6: 91,246,072 (GRCm39) |
I973F |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,095 (GRCm39) |
I1259M |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,421,060 (GRCm39) |
H92R |
probably benign |
Het |
| Gm13283 |
A |
C |
4: 88,679,516 (GRCm39) |
D169A |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,470 (GRCm39) |
L397P |
probably benign |
Het |
| H4c11 |
T |
A |
13: 21,919,369 (GRCm39) |
I35N |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,460,297 (GRCm39) |
|
probably benign |
Het |
| Hmgcs2 |
C |
T |
3: 98,203,557 (GRCm39) |
A222V |
probably damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,712 (GRCm39) |
T102I |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,674,995 (GRCm39) |
S387P |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,643,108 (GRCm39) |
V45M |
probably damaging |
Het |
| Mc3r |
A |
T |
2: 172,091,515 (GRCm39) |
I246F |
possibly damaging |
Het |
| Mug1 |
G |
C |
6: 121,861,296 (GRCm39) |
A1306P |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,020 (GRCm39) |
E260G |
probably benign |
Het |
| Naa16 |
A |
G |
14: 79,582,395 (GRCm39) |
Y565H |
probably damaging |
Het |
| Ndufaf7 |
A |
G |
17: 79,244,950 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Nop58 |
G |
A |
1: 59,731,549 (GRCm39) |
|
probably null |
Het |
| Or6c33 |
A |
T |
10: 129,853,769 (GRCm39) |
T180S |
possibly damaging |
Het |
| Or6c88 |
A |
T |
10: 129,406,550 (GRCm39) |
T9S |
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,855,920 (GRCm39) |
|
probably benign |
Het |
| Pcdh8 |
G |
A |
14: 80,006,971 (GRCm39) |
Q531* |
probably null |
Het |
| Pik3c2g |
A |
G |
6: 139,821,093 (GRCm39) |
T297A |
probably benign |
Het |
| Poc1b |
T |
C |
10: 99,028,861 (GRCm39) |
|
probably null |
Het |
| Prb1c |
G |
A |
6: 132,338,897 (GRCm39) |
P107L |
|
Het |
| Prokr2 |
A |
G |
2: 132,215,996 (GRCm39) |
V155A |
possibly damaging |
Het |
| Rce1 |
C |
T |
19: 4,674,094 (GRCm39) |
|
probably benign |
Het |
| Rnf148 |
A |
T |
6: 23,654,704 (GRCm39) |
N97K |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,899,723 (GRCm39) |
S1315P |
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,107,140 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc25a2 |
C |
A |
18: 37,771,089 (GRCm39) |
G147C |
probably damaging |
Het |
| Slc28a2b |
C |
A |
2: 122,348,983 (GRCm39) |
P303Q |
|
Het |
| Sod2 |
T |
C |
17: 13,227,193 (GRCm39) |
L49P |
probably damaging |
Het |
| Tbc1d12 |
T |
C |
19: 38,854,098 (GRCm39) |
V260A |
probably benign |
Het |
| Tcte2 |
C |
A |
17: 13,933,410 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,637 (GRCm39) |
T2317A |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,402,298 (GRCm39) |
I500V |
possibly damaging |
Het |
| Trav14-3 |
C |
A |
14: 54,001,112 (GRCm39) |
Q108K |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,364 (GRCm39) |
Y54H |
probably damaging |
Het |
| Trpm3 |
T |
A |
19: 22,744,034 (GRCm39) |
V337E |
probably damaging |
Het |
| Tsbp1 |
T |
C |
17: 34,659,328 (GRCm39) |
|
probably benign |
Het |
| Uox |
A |
T |
3: 146,318,047 (GRCm39) |
I14F |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,065,421 (GRCm39) |
V1249A |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,194 (GRCm39) |
Y97H |
probably damaging |
Het |
| Zng1 |
T |
G |
19: 24,932,780 (GRCm39) |
K84N |
probably damaging |
Het |
|
| Other mutations in Zfp536 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01075:Zfp536
|
APN |
7 |
37,267,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02729:Zfp536
|
APN |
7 |
37,193,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Zfp536
|
UTSW |
7 |
37,179,182 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0211:Zfp536
|
UTSW |
7 |
37,267,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Zfp536
|
UTSW |
7 |
37,267,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Zfp536
|
UTSW |
7 |
37,268,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Zfp536
|
UTSW |
7 |
37,180,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Zfp536
|
UTSW |
7 |
37,269,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Zfp536
|
UTSW |
7 |
37,178,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Zfp536
|
UTSW |
7 |
37,178,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Zfp536
|
UTSW |
7 |
37,268,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Zfp536
|
UTSW |
7 |
37,268,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Zfp536
|
UTSW |
7 |
37,179,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Zfp536
|
UTSW |
7 |
37,178,814 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2288:Zfp536
|
UTSW |
7 |
37,179,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2509:Zfp536
|
UTSW |
7 |
37,267,403 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3967:Zfp536
|
UTSW |
7 |
37,173,255 (GRCm39) |
makesense |
probably null |
|
|
R4039:Zfp536
|
UTSW |
7 |
37,268,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Zfp536
|
UTSW |
7 |
37,267,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Zfp536
|
UTSW |
7 |
37,268,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Zfp536
|
UTSW |
7 |
37,268,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Zfp536
|
UTSW |
7 |
37,178,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Zfp536
|
UTSW |
7 |
37,269,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Zfp536
|
UTSW |
7 |
37,180,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5506:Zfp536
|
UTSW |
7 |
37,268,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5816:Zfp536
|
UTSW |
7 |
37,180,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Zfp536
|
UTSW |
7 |
37,179,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6131:Zfp536
|
UTSW |
7 |
37,269,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6156:Zfp536
|
UTSW |
7 |
37,173,281 (GRCm39) |
missense |
unknown |
|
|
R6257:Zfp536
|
UTSW |
7 |
37,179,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Zfp536
|
UTSW |
7 |
37,267,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Zfp536
|
UTSW |
7 |
37,267,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Zfp536
|
UTSW |
7 |
37,179,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Zfp536
|
UTSW |
7 |
37,180,276 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7247:Zfp536
|
UTSW |
7 |
37,268,631 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7325:Zfp536
|
UTSW |
7 |
37,179,285 (GRCm39) |
missense |
probably benign |
|
|
R7650:Zfp536
|
UTSW |
7 |
37,269,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Zfp536
|
UTSW |
7 |
37,268,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7827:Zfp536
|
UTSW |
7 |
37,269,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Zfp536
|
UTSW |
7 |
37,269,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Zfp536
|
UTSW |
7 |
37,268,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8504:Zfp536
|
UTSW |
7 |
37,179,492 (GRCm39) |
missense |
probably benign |
|
|
R8779:Zfp536
|
UTSW |
7 |
37,267,692 (GRCm39) |
nonsense |
probably null |
|
|
R8985:Zfp536
|
UTSW |
7 |
37,268,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Zfp536
|
UTSW |
7 |
37,269,206 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Zfp536
|
UTSW |
7 |
37,193,237 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1186:Zfp536
|
UTSW |
7 |
37,179,908 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp536
|
UTSW |
7 |
37,179,498 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp536
|
UTSW |
7 |
37,178,985 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1191:Zfp536
|
UTSW |
7 |
37,179,908 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp536
|
UTSW |
7 |
37,179,498 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp536
|
UTSW |
7 |
37,178,985 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAATGCGGATGTGGCGATC -3'
(R):5'- CATTCAAGTGCCCCTACTGC -3'
Sequencing Primer
(F):5'- GATGTGGCGATCCAGCTCTTC -3'
(R):5'- GGAAACCTCAAGATCCACCTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation