Incidental Mutation 'R6131:Zfp536'
ID |
487128 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp536
|
Ensembl Gene |
ENSMUSG00000043456 |
Gene Name |
zinc finger protein 536 |
Synonyms |
9630010P11Rik |
MMRRC Submission |
044278-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6131 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37269137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 93
(D93V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135218
(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: D93V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058468 Gene: ENSMUSG00000043456 AA Change: D93V
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: D93V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134778 Gene: ENSMUSG00000043456 AA Change: D93V
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: D93V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135681 Gene: ENSMUSG00000043456 AA Change: D93V
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: D93V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135068 Gene: ENSMUSG00000043456 AA Change: D93V
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: ENSMUST00000176534
AA Change: D93V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176680
AA Change: D93V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135218 Gene: ENSMUSG00000043456 AA Change: D93V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
Meta Mutation Damage Score |
0.3059 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (50/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
Atxn2l |
T |
C |
7: 126,102,337 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
Spag16 |
A |
G |
1: 70,764,242 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,817,517 (GRCm39) |
I289V |
probably damaging |
Het |
Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,644,224 (GRCm39) |
I729F |
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 |
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'- GCAGTAGGGGCACTTGAATG -3'
(R):5'- ATGCCATGAGCCAGAAGTTG -3'
Sequencing Primer
(F):5'- GGGCACTTGAATGGCTTCTCAC -3'
(R):5'- TGAGCCAGAAGTTGCACCAGATC -3'
|
Posted On |
2017-10-10 |