Incidental Mutation 'R4808:Zfp536'
| ID |
370830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
042427-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4808 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37178730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 228
(C228S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056338]
[ENSMUST00000175941]
[ENSMUST00000176114]
[ENSMUST00000176129]
[ENSMUST00000176205]
|
| AlphaFold |
Q8K083 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056338
AA Change: C1292S
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: C1292S
| 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 benign
Transcript: ENSMUST00000175941
AA Change: C1292S
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: C1292S
| 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: ENSMUST00000176114
AA Change: C1292S
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: C1292S
| 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: C228S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: C228S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176205
AA Change: C1292S
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: C1292S
| 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 |
0.0854 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abi3bp |
A |
G |
16: 56,414,879 (GRCm39) |
D347G |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,280 (GRCm39) |
N248S |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,706,243 (GRCm39) |
F836L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,887,984 (GRCm39) |
T454M |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atm |
A |
G |
9: 53,356,795 (GRCm39) |
S2819P |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,694,782 (GRCm39) |
F500S |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,394,164 (GRCm39) |
D682N |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,203,709 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,756 (GRCm39) |
K273R |
probably damaging |
Het |
| Crat |
T |
C |
2: 30,300,033 (GRCm39) |
I116V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,689,573 (GRCm39) |
H423R |
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,893,249 (GRCm39) |
E360G |
probably benign |
Het |
| D430041D05Rik |
A |
C |
2: 104,031,455 (GRCm39) |
|
probably null |
Het |
| Eif3i |
A |
T |
4: 129,485,857 (GRCm39) |
F323I |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,023 (GRCm39) |
S228P |
probably damaging |
Het |
| Gm10305 |
C |
T |
4: 99,161,481 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7347 |
C |
T |
5: 26,259,995 (GRCm39) |
R185H |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,193,226 (GRCm39) |
A441S |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,701,654 (GRCm39) |
S608T |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,645 (GRCm39) |
V620E |
possibly damaging |
Het |
| H2bc18 |
T |
G |
3: 96,177,329 (GRCm39) |
S88A |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,951,684 (GRCm39) |
T264A |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hsd3b6 |
G |
A |
3: 98,713,601 (GRCm39) |
H233Y |
probably damaging |
Het |
| Ighv6-7 |
T |
A |
12: 114,419,341 (GRCm39) |
R88* |
probably null |
Het |
| Jup |
C |
T |
11: 100,269,018 (GRCm39) |
R465H |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,699,278 (GRCm39) |
Y101N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Myocos |
T |
C |
1: 162,484,609 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,382,942 (GRCm39) |
G1197S |
probably damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,385 (GRCm39) |
K223T |
possibly damaging |
Het |
| Oprd1 |
G |
A |
4: 131,844,705 (GRCm39) |
T101M |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,146 (GRCm39) |
D92G |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,623,118 (GRCm39) |
H27R |
probably damaging |
Het |
| Pcdha7 |
G |
A |
18: 37,107,281 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcx |
T |
A |
19: 4,670,956 (GRCm39) |
S1086T |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,932,679 (GRCm39) |
T114A |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,991,674 (GRCm39) |
|
probably null |
Het |
| Pkn3 |
G |
A |
2: 29,980,093 (GRCm39) |
G750E |
probably damaging |
Het |
| Pramel5 |
G |
A |
4: 143,999,325 (GRCm39) |
A254V |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,554,368 (GRCm39) |
L119P |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,160,190 (GRCm39) |
L395Q |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,256,839 (GRCm39) |
S51P |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,591 (GRCm39) |
T297A |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,658,063 (GRCm39) |
E272G |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,950,475 (GRCm39) |
Q396K |
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,553,250 (GRCm39) |
I162V |
probably damaging |
Het |
| Snap25 |
A |
G |
2: 136,612,022 (GRCm39) |
D70G |
probably damaging |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,221,485 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,095 (GRCm39) |
D314G |
probably damaging |
Het |
| Steap1 |
G |
T |
5: 5,788,829 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
A |
T |
10: 78,588,698 (GRCm39) |
D37E |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,097 (GRCm39) |
S473P |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,546,896 (GRCm39) |
N882K |
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 |
|
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 |
|
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'- CGAAACTGGACTTTCGTGATTG -3'
(R):5'- TCACCTTTAGCCCAAGCAG -3'
Sequencing Primer
(F):5'- ACTGGACTTTCGTGATTGTCTATAC -3'
(R):5'- TTTAGCCCAAGCAGCCGAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation