Incidental Mutation 'R4039:Zfp536'
ID |
313845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp536
|
Ensembl Gene |
ENSMUSG00000043456 |
Gene Name |
zinc finger protein 536 |
Synonyms |
9630010P11Rik |
MMRRC Submission |
041614-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4039 (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 37268975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 147
(L147Q)
|
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: L147Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058468 Gene: ENSMUSG00000043456 AA Change: L147Q
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: L147Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134778 Gene: ENSMUSG00000043456 AA Change: L147Q
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: L147Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135681 Gene: ENSMUSG00000043456 AA Change: L147Q
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: L147Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135068 Gene: ENSMUSG00000043456 AA Change: L147Q
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: L147Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135218 Gene: ENSMUSG00000043456 AA Change: L147Q
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
130 |
152 |
5.14e-3 |
SMART |
|
Meta Mutation Damage Score |
0.2560 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
98% (48/49) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
T |
15: 59,888,215 (GRCm39) |
L75Q |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,348,263 (GRCm39) |
|
probably null |
Het |
Col11a2 |
A |
G |
17: 34,264,748 (GRCm39) |
T268A |
probably benign |
Het |
Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
Csn2 |
C |
T |
5: 87,845,935 (GRCm39) |
M1I |
probably null |
Het |
Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
Epn2 |
A |
G |
11: 61,437,348 (GRCm39) |
Y75H |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,915,671 (GRCm39) |
H563Q |
probably damaging |
Het |
Galnt9 |
T |
C |
5: 110,762,074 (GRCm39) |
V37A |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gorab |
A |
T |
1: 163,224,635 (GRCm39) |
D55E |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,806,159 (GRCm39) |
R2318Q |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,183,339 (GRCm39) |
L481P |
probably damaging |
Het |
Lyzl1 |
T |
C |
18: 4,169,140 (GRCm39) |
L48P |
probably damaging |
Het |
Mettl27 |
C |
T |
5: 134,969,463 (GRCm39) |
Q212* |
probably null |
Het |
Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
Ncam2 |
C |
T |
16: 81,287,211 (GRCm39) |
S375L |
probably benign |
Het |
Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
Parp9 |
T |
C |
16: 35,780,417 (GRCm39) |
L461P |
probably damaging |
Het |
Pcsk7 |
A |
G |
9: 45,839,305 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,101,957 (GRCm39) |
H342Q |
probably benign |
Het |
Prdm13 |
T |
G |
4: 21,685,774 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,207,508 (GRCm39) |
Y283* |
probably null |
Het |
Rab12 |
T |
C |
17: 66,807,396 (GRCm39) |
Y111C |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,842,486 (GRCm39) |
N61S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
Sash1 |
G |
T |
10: 8,605,391 (GRCm39) |
P1000T |
probably damaging |
Het |
Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
Slc12a5 |
A |
G |
2: 164,834,250 (GRCm39) |
E757G |
probably benign |
Het |
Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,222,149 (GRCm39) |
|
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,473,771 (GRCm39) |
T765A |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 116,004,105 (GRCm39) |
M1V |
probably null |
Het |
Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
Trim43b |
A |
G |
9: 88,973,400 (GRCm39) |
L111P |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,576,276 (GRCm39) |
S900R |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,041,208 (GRCm39) |
C747Y |
possibly damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
Vmn2r115 |
A |
T |
17: 23,564,077 (GRCm39) |
Y83F |
probably benign |
Het |
Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
Het |
Zswim2 |
G |
A |
2: 83,746,338 (GRCm39) |
H367Y |
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 |
|
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 |
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'- TTGAGATCAGACCTTGGCTG -3'
(R):5'- TGTAGACAACAGCCTCAATGG -3'
Sequencing Primer
(F):5'- ATCAGACCTTGGCTGCAGCAG -3'
(R):5'- CCTCAATGGGCGTGTGGATC -3'
|
Posted On |
2015-04-30 |