Incidental Mutation 'R5506:Zfp536'
| ID |
430921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp536
|
| Ensembl Gene |
ENSMUSG00000043456 |
| Gene Name |
zinc finger protein 536 |
| Synonyms |
9630010P11Rik |
| MMRRC Submission |
043067-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
37017449-37473066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37268217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 400
(S400P)
|
| 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: S400P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: S400P
| 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: S400P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: S400P
| 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: S400P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: S400P
| 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: S400P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: S400P
| 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 |
0.0880 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
| A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
| Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,438,564 (GRCm39) |
V173A |
probably benign |
Het |
| CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
| Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
| Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
| Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
| Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
| Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
| Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
| Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
| Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
| H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
| Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
| Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
| Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
| Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
| Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
| Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
| Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
| Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
| Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
| Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
| Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
| Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
| Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
| Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
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 |
|
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'- CCTTGCCATAGAGCTGAGAG -3'
(R):5'- CCATATCACTGCGGAGTCTG -3'
Sequencing Primer
(F):5'- TGAGAGGGCTCATTCAGACTG -3'
(R):5'- GCAGTCAGCAAACGAGTTCCG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation