Incidental Mutation 'R6864:Zfp536'
| ID |
535809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
044964-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37267940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 492
(L492P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135068
(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: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: L492P
| 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: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: L492P
| 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: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: L492P
| 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: L492P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: L492P
| 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 |
|
| Meta Mutation Damage Score |
0.6238 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
100% (60/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,785,879 (GRCm39) |
T875I |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,293,545 (GRCm39) |
S33T |
probably benign |
Het |
| Anxa6 |
T |
C |
11: 54,877,011 (GRCm39) |
T541A |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,917,557 (GRCm39) |
R334W |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,741,612 (GRCm39) |
V940D |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,471,011 (GRCm39) |
Y232N |
probably damaging |
Het |
| Bmp7 |
A |
G |
2: 172,781,855 (GRCm39) |
V3A |
probably benign |
Het |
| Calr |
A |
T |
8: 85,571,557 (GRCm39) |
H145Q |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,562,792 (GRCm39) |
T976S |
probably benign |
Het |
| Ccnk |
G |
A |
12: 108,168,473 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
C |
4: 85,015,029 (GRCm39) |
S1107P |
probably damaging |
Het |
| Cradd |
T |
C |
10: 95,011,789 (GRCm39) |
D117G |
probably damaging |
Het |
| Dcaf7 |
C |
T |
11: 105,937,647 (GRCm39) |
T90I |
probably damaging |
Het |
| Defb30 |
T |
A |
14: 63,273,552 (GRCm39) |
|
probably null |
Het |
| Dock4 |
T |
A |
12: 40,795,745 (GRCm39) |
I854N |
probably damaging |
Het |
| Dym |
T |
A |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,791,477 (GRCm39) |
T341A |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,206 (GRCm39) |
V309A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,905,640 (GRCm38) |
P1130L |
possibly damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,085 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Kbtbd2 |
T |
A |
6: 56,757,011 (GRCm39) |
K242* |
probably null |
Het |
| Kel |
A |
G |
6: 41,680,694 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,904,546 (GRCm39) |
K177N |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,354,795 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,343,313 (GRCm39) |
D1735G |
probably damaging |
Het |
| Ms4a1 |
C |
A |
19: 11,230,542 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mylk |
C |
A |
16: 34,694,520 (GRCm39) |
P193Q |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or2y16 |
G |
T |
11: 49,334,767 (GRCm39) |
A30S |
probably benign |
Het |
| Or2y17 |
A |
T |
11: 49,231,580 (GRCm39) |
T74S |
probably damaging |
Het |
| Or4d10b |
A |
T |
19: 12,036,777 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or4f52 |
C |
T |
2: 111,061,542 (GRCm39) |
V199I |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,663,667 (GRCm39) |
S968N |
probably damaging |
Het |
| Oxr1 |
T |
G |
15: 41,686,783 (GRCm39) |
V555G |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,715,761 (GRCm39) |
Y103C |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,451,133 (GRCm39) |
Y204C |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,806,391 (GRCm39) |
E546G |
probably damaging |
Het |
| Prss12 |
C |
A |
3: 123,241,033 (GRCm39) |
H76N |
probably benign |
Het |
| Rai14 |
G |
T |
15: 10,633,254 (GRCm39) |
S45R |
possibly damaging |
Het |
| Samd9l |
T |
A |
6: 3,374,750 (GRCm39) |
D837V |
probably benign |
Het |
| Slc22a6 |
G |
T |
19: 8,595,805 (GRCm39) |
C49F |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,775,874 (GRCm39) |
I328N |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,556,310 (GRCm39) |
I148V |
possibly damaging |
Het |
| Stk32b |
A |
T |
5: 37,606,149 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,115 (GRCm39) |
F525I |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,964,991 (GRCm39) |
I183T |
probably damaging |
Het |
| Tmem175 |
A |
C |
5: 108,793,845 (GRCm39) |
H325P |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,443,196 (GRCm39) |
V389A |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,809,011 (GRCm39) |
|
probably null |
Het |
| Trim28 |
T |
A |
7: 12,763,385 (GRCm39) |
F509I |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,713 (GRCm39) |
Q191L |
probably benign |
Het |
| Vmn2r24 |
A |
T |
6: 123,756,117 (GRCm39) |
D63V |
possibly damaging |
Het |
| Zfp831 |
C |
A |
2: 174,488,533 (GRCm39) |
N1069K |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,593 (GRCm39) |
H226Q |
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 |
|
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'- TTTCTGCTTGGAGCCATCTG -3'
(R):5'- CCTGCAGAGTGGCTTTATGG -3'
Sequencing Primer
(F):5'- AACTCCGGTGTTTGCCAAAG -3'
(R):5'- GGCTTTATGGCCCCAGACAAAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation