Incidental Mutation 'R8013:Zfp536'
ID |
616996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp536
|
Ensembl Gene |
ENSMUSG00000043456 |
Gene Name |
zinc finger protein 536 |
Synonyms |
9630010P11Rik |
MMRRC Submission |
067453-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8013 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37269035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 127
(N127S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058468
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056338]
[ENSMUST00000175941]
[ENSMUST00000176114]
[ENSMUST00000176205]
[ENSMUST00000176534]
[ENSMUST00000176680]
|
AlphaFold |
Q8K083 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056338
AA Change: N127S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058468 Gene: ENSMUSG00000043456 AA Change: N127S
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: N127S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134778 Gene: ENSMUSG00000043456 AA Change: N127S
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: N127S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135681 Gene: ENSMUSG00000043456 AA Change: N127S
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: ENSMUST00000176205
AA Change: N127S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135068 Gene: ENSMUSG00000043456 AA Change: N127S
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 damaging
Transcript: ENSMUST00000176680
AA Change: N127S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135218 Gene: ENSMUSG00000043456 AA Change: N127S
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
C |
A |
15: 12,824,615 (GRCm39) |
D7Y |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,986,699 (GRCm39) |
D2661G |
unknown |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Apob |
T |
A |
12: 8,060,798 (GRCm39) |
N3093K |
possibly damaging |
Het |
Baz2a |
C |
T |
10: 127,961,157 (GRCm39) |
R1627C |
probably benign |
Het |
Baz2a |
T |
G |
10: 127,961,161 (GRCm39) |
V1628G |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,648,536 (GRCm39) |
I404K |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,347,796 (GRCm39) |
Y764C |
probably damaging |
Het |
Casr |
G |
A |
16: 36,330,006 (GRCm39) |
L443F |
probably benign |
Het |
Cfap43 |
T |
A |
19: 47,761,548 (GRCm39) |
I849F |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,176,278 (GRCm39) |
H812Q |
probably benign |
Het |
Cog1 |
A |
G |
11: 113,546,990 (GRCm39) |
D528G |
probably damaging |
Het |
Depdc5 |
C |
T |
5: 33,131,186 (GRCm39) |
T1229M |
probably benign |
Het |
Dis3 |
T |
A |
14: 99,314,835 (GRCm39) |
R954W |
possibly damaging |
Het |
Disp2 |
T |
A |
2: 118,620,163 (GRCm39) |
Y298* |
probably null |
Het |
Dnai3 |
T |
C |
3: 145,787,040 (GRCm39) |
T332A |
probably damaging |
Het |
Dock2 |
A |
C |
11: 34,596,677 (GRCm39) |
I393S |
probably damaging |
Het |
Dtd1 |
A |
G |
2: 144,459,252 (GRCm39) |
D92G |
probably damaging |
Het |
Eef2 |
T |
A |
10: 81,014,030 (GRCm39) |
V121D |
probably damaging |
Het |
Eml1 |
T |
A |
12: 108,487,938 (GRCm39) |
I550N |
probably benign |
Het |
Entpd7 |
A |
G |
19: 43,716,494 (GRCm39) |
D496G |
probably benign |
Het |
Ets2 |
T |
A |
16: 95,517,144 (GRCm39) |
L292Q |
probably damaging |
Het |
Ext1 |
T |
C |
15: 52,939,283 (GRCm39) |
I589V |
possibly damaging |
Het |
Fam20a |
T |
A |
11: 109,576,332 (GRCm39) |
E142D |
possibly damaging |
Het |
Farp1 |
T |
A |
14: 121,479,813 (GRCm39) |
I368N |
probably damaging |
Het |
Fars2 |
C |
T |
13: 36,389,068 (GRCm39) |
Q186* |
probably null |
Het |
Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
Fbxo38 |
T |
C |
18: 62,663,882 (GRCm39) |
E203G |
possibly damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,836,966 (GRCm39) |
R295H |
probably benign |
Het |
Fhdc1 |
A |
T |
3: 84,381,946 (GRCm39) |
M1K |
probably null |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gm28363 |
A |
G |
1: 117,654,534 (GRCm39) |
R58G |
probably benign |
Het |
Gm8356 |
A |
T |
14: 17,692,450 (GRCm39) |
N58K |
probably damaging |
Het |
Grsf1 |
A |
G |
5: 88,823,615 (GRCm39) |
|
probably null |
Het |
Hephl1 |
T |
A |
9: 14,965,905 (GRCm39) |
D1016V |
possibly damaging |
Het |
Hrob |
A |
G |
11: 102,148,725 (GRCm39) |
N379D |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,423,211 (GRCm39) |
I831F |
probably benign |
Het |
Krt78 |
T |
C |
15: 101,856,977 (GRCm39) |
R377G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,220,494 (GRCm39) |
H457R |
probably benign |
Het |
Lmnb1 |
T |
A |
18: 56,841,431 (GRCm39) |
Y83N |
probably damaging |
Het |
Loxl4 |
A |
G |
19: 42,596,115 (GRCm39) |
C113R |
probably damaging |
Het |
Lrba |
A |
T |
3: 86,325,278 (GRCm39) |
D1912V |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,420,619 (GRCm39) |
T212S |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,489,918 (GRCm39) |
C504* |
probably null |
Het |
Map4k4 |
T |
C |
1: 40,001,372 (GRCm39) |
I53T |
unknown |
Het |
Mtcl2 |
A |
G |
2: 156,872,706 (GRCm39) |
|
probably null |
Het |
Myo5b |
C |
T |
18: 74,893,970 (GRCm39) |
Q1700* |
probably null |
Het |
Npas2 |
T |
C |
1: 39,377,146 (GRCm39) |
F503L |
probably benign |
Het |
Nrg1 |
A |
T |
8: 32,439,951 (GRCm39) |
S149T |
probably benign |
Het |
Or13c7 |
T |
A |
4: 43,854,958 (GRCm39) |
F216L |
probably benign |
Het |
Or2ag15 |
C |
T |
7: 106,340,824 (GRCm39) |
V106I |
probably benign |
Het |
Or4a71 |
A |
G |
2: 89,358,280 (GRCm39) |
V158A |
probably benign |
Het |
Or9r7 |
T |
A |
10: 129,962,647 (GRCm39) |
K93M |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,323,966 (GRCm39) |
L66S |
probably damaging |
Het |
Prss35 |
T |
C |
9: 86,637,478 (GRCm39) |
S83P |
probably damaging |
Het |
Psme4 |
G |
A |
11: 30,754,320 (GRCm39) |
M192I |
probably benign |
Het |
Ptprs |
A |
C |
17: 56,742,994 (GRCm39) |
S383A |
probably damaging |
Het |
Resf1 |
T |
G |
6: 149,230,368 (GRCm39) |
V1138G |
probably damaging |
Het |
Sar1b |
C |
T |
11: 51,670,621 (GRCm39) |
P55L |
possibly damaging |
Het |
Sgsh |
A |
G |
11: 119,243,521 (GRCm39) |
V67A |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,218,794 (GRCm39) |
Y465C |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,518,582 (GRCm39) |
I502T |
probably damaging |
Het |
Sugp2 |
T |
A |
8: 70,704,292 (GRCm39) |
Y610N |
probably damaging |
Het |
Tbc1d24 |
G |
A |
17: 24,401,795 (GRCm39) |
P385S |
possibly damaging |
Het |
Tm4sf1 |
T |
C |
3: 57,200,319 (GRCm39) |
I99V |
probably benign |
Het |
Tpr |
G |
T |
1: 150,274,359 (GRCm39) |
V163L |
probably benign |
Het |
Usp31 |
T |
C |
7: 121,248,480 (GRCm39) |
S988G |
probably damaging |
Het |
Zbtb26 |
T |
A |
2: 37,327,013 (GRCm39) |
|
probably null |
Het |
Zfp750 |
T |
A |
11: 121,403,843 (GRCm39) |
D344V |
possibly damaging |
Het |
Zmym5 |
T |
A |
14: 57,031,883 (GRCm39) |
K408N |
possibly 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 |
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'- AGACGGTTCTCCTCACGTAC -3'
(R):5'- AGCCATGCCTTTCCTGAGTTG -3'
Sequencing Primer
(F):5'- CTTCCCCAAGTTGCCCAG -3'
(R):5'- CTTGAGGAGAAGGCCCACGTG -3'
|
Posted On |
2020-01-23 |