Incidental Mutation 'R1462:Zfp536'
ID |
158947 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp536
|
Ensembl Gene |
ENSMUSG00000043456 |
Gene Name |
zinc finger protein 536 |
Synonyms |
9630010P11Rik |
MMRRC Submission |
039516-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1462 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37178735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Tyrosine
at position 226
(S226Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056338]
[ENSMUST00000175941]
[ENSMUST00000176114]
[ENSMUST00000176129]
[ENSMUST00000176205]
|
AlphaFold |
Q8K083 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056338
AA Change: S1290Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058468 Gene: ENSMUSG00000043456 AA Change: S1290Y
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 damaging
Transcript: ENSMUST00000175941
AA Change: S1290Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134778 Gene: ENSMUSG00000043456 AA Change: S1290Y
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 damaging
Transcript: ENSMUST00000176114
AA Change: S1290Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135681 Gene: ENSMUSG00000043456 AA Change: S1290Y
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 damaging
Transcript: ENSMUST00000176129
AA Change: S226Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135234 Gene: ENSMUSG00000043456 AA Change: S226Y
Domain | Start | End | E-Value | Type |
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176205
AA Change: S1290Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135068 Gene: ENSMUSG00000043456 AA Change: S1290Y
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 |
|
Meta Mutation Damage Score |
0.1045 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 92.6%
- 20x: 79.9%
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
Cep170 |
T |
C |
1: 176,584,211 (GRCm39) |
K723E |
possibly damaging |
Het |
Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,112 (GRCm39) |
V150A |
probably damaging |
Het |
Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
Ibtk |
A |
T |
9: 85,606,198 (GRCm39) |
I443N |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
Nrp1 |
A |
G |
8: 129,229,279 (GRCm39) |
N919S |
probably benign |
Het |
Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
probably benign |
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 |
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 |
|
R8931:Zfp536
|
UTSW |
7 |
37,268,721 (GRCm39) |
missense |
probably benign |
0.41 |
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'- GGTGTCACACAGAAAGTCAGACCC -3'
(R):5'- TGGTCTCACCTTTAGCCCAAGCAG -3'
Sequencing Primer
(F):5'- TGGCTtttgcttttttctttctttc -3'
(R):5'- TTTAGCCCAAGCAGCCGAG -3'
|
Posted On |
2014-03-14 |