Incidental Mutation 'R6976:Zfp536'
| ID |
542459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
045382-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6976 (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 37179828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 926
(S926C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056338]
[ENSMUST00000175941]
[ENSMUST00000176114]
[ENSMUST00000176129]
[ENSMUST00000176205]
|
| AlphaFold |
Q8K083 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056338
AA Change: S926C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: S926C
| 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: S926C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: S926C
| 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: S926C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: S926C
| 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: ENSMUST00000176129
|
| SMART Domains |
Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176205
AA Change: S926C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: S926C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
| Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
| Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
| Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
| Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
| Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
| Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
| Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
| Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
| Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
| Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
| Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
| Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
| Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
| Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
| Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
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 |
|
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'- ATGCTGTCTTGCACGGTCAC -3'
(R):5'- CATCCTTCGAGGGGCTTTTAAG -3'
Sequencing Primer
(F):5'- TTGCACGGTCACGGAGGAG -3'
(R):5'- TCTCAGCAGTGGACAGCC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation