Incidental Mutation 'R2172:Sharpin'
| ID |
237582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sharpin
|
| Ensembl Gene |
ENSMUSG00000022552 |
| Gene Name |
SHANK-associated RH domain interacting protein |
| Synonyms |
SIPL1, 0610041B22Rik, cpdm |
| MMRRC Submission |
040174-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R2172 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76231240-76235310 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 76234866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023210]
[ENSMUST00000023211]
[ENSMUST00000023212]
[ENSMUST00000160560]
[ENSMUST00000160172]
[ENSMUST00000160853]
[ENSMUST00000160914]
[ENSMUST00000208833]
[ENSMUST00000230314]
[ENSMUST00000161527]
|
| AlphaFold |
Q91WA6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023210
|
| SMART Domains |
Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
Pfam:Cytochrom_C1
|
96 |
314 |
1.5e-100 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000023211
AA Change: A5S
|
| SMART Domains |
Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: A5S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sharpin_PH
|
13 |
125 |
1.2e-44 |
PFAM |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
PDB:4DBG|A
|
203 |
299 |
1e-17 |
PDB |
|
SCOP:d1euvb_
|
212 |
301 |
2e-5 |
SMART |
|
Blast:UBQ
|
218 |
299 |
2e-26 |
BLAST |
|
ZnF_RBZ
|
343 |
367 |
9.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023212
|
| SMART Domains |
Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Maf1
|
24 |
202 |
2.8e-69 |
PFAM |
|
low complexity region
|
215 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154477
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160560
AA Change: A5S
|
| SMART Domains |
Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: A5S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
PDB:4EMO|D
|
24 |
62 |
2e-13 |
PDB |
|
low complexity region
|
64 |
81 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147001
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161391
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160172
|
| SMART Domains |
Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Maf1
|
24 |
202 |
2.7e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160853
|
| SMART Domains |
Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Maf1
|
25 |
202 |
4.6e-67 |
PFAM |
|
low complexity region
|
215 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159429
|
| SMART Domains |
Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_RBZ
|
46 |
70 |
9.65e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160914
|
| SMART Domains |
Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
48 |
N/A |
INTRINSIC |
|
Pfam:Maf1
|
84 |
202 |
4.3e-37 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161072
|
| SMART Domains |
Protein: ENSMUSP00000125332
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208833
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000230314
AA Change: A5S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161527
|
| SMART Domains |
Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Maf1
|
24 |
202 |
2.8e-69 |
PFAM |
|
low complexity region
|
215 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229292
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this gene produces chronic skin lesions. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted(2) Gene trapped(2) Spontaneous(2)
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
T |
A |
18: 38,123,613 (GRCm39) |
E441V |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,287,195 (GRCm39) |
D64V |
probably damaging |
Het |
| Atg9a |
C |
A |
1: 75,162,329 (GRCm39) |
R527L |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,497,864 (GRCm39) |
I308L |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,903,888 (GRCm39) |
Y199F |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,191 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
T |
5: 92,780,367 (GRCm39) |
L902H |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,163,672 (GRCm39) |
Y492C |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,963,605 (GRCm39) |
H1783N |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,715,630 (GRCm39) |
V320A |
possibly damaging |
Het |
| Dsc2 |
A |
G |
18: 20,178,559 (GRCm39) |
Y282H |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,861,562 (GRCm39) |
P1114S |
probably benign |
Het |
| Fastkd1 |
A |
G |
2: 69,530,477 (GRCm39) |
S560P |
probably damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,895 (GRCm39) |
R795Q |
possibly damaging |
Het |
| Gpr155 |
C |
T |
2: 73,212,471 (GRCm39) |
V51I |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,438 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
T |
A |
13: 14,552,291 (GRCm39) |
I103F |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,864,422 (GRCm39) |
N685K |
probably damaging |
Het |
| Hnrnph1 |
T |
A |
11: 50,273,643 (GRCm39) |
D244E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,308,681 (GRCm39) |
E3989G |
probably benign |
Het |
| Ibsp |
T |
C |
5: 104,458,296 (GRCm39) |
Y278H |
probably damaging |
Het |
| Ift57 |
T |
G |
16: 49,579,703 (GRCm39) |
N291K |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,728,382 (GRCm39) |
T149A |
possibly damaging |
Het |
| Ints5 |
C |
T |
19: 8,873,646 (GRCm39) |
T535I |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,056,015 (GRCm39) |
L268P |
probably damaging |
Het |
| Klhdc7a |
T |
A |
4: 139,693,121 (GRCm39) |
T609S |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,509,965 (GRCm39) |
V429A |
probably benign |
Het |
| Lsm3 |
T |
C |
6: 91,499,254 (GRCm39) |
V87A |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,138,413 (GRCm39) |
V2726L |
probably damaging |
Het |
| Marveld3 |
A |
C |
8: 110,688,478 (GRCm39) |
S88A |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,424,670 (GRCm39) |
D640G |
probably damaging |
Het |
| Mettl4 |
A |
G |
17: 95,040,591 (GRCm39) |
I399T |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,577,379 (GRCm39) |
L274* |
probably null |
Het |
| Nacc2 |
A |
C |
2: 25,950,235 (GRCm39) |
D500E |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,184,894 (GRCm39) |
M372L |
probably benign |
Het |
| Or5p6 |
A |
T |
7: 107,630,674 (GRCm39) |
I292N |
probably damaging |
Het |
| Otud7b |
T |
G |
3: 96,060,837 (GRCm39) |
|
probably null |
Het |
| Pcx |
G |
A |
19: 4,670,909 (GRCm39) |
R1070H |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,426,855 (GRCm39) |
W1560* |
probably null |
Het |
| Puf60 |
A |
T |
15: 75,942,313 (GRCm39) |
I520N |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,386,399 (GRCm39) |
R143C |
probably damaging |
Het |
| Rfx3 |
G |
A |
19: 27,792,894 (GRCm39) |
Q322* |
probably null |
Het |
| Samd14 |
G |
T |
11: 94,905,217 (GRCm39) |
V10L |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,378,912 (GRCm39) |
R909Q |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,316 (GRCm39) |
S117P |
probably benign |
Het |
| Skor1 |
C |
A |
9: 63,052,404 (GRCm39) |
A494S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,119,638 (GRCm39) |
T375A |
probably benign |
Het |
| Sparc |
G |
A |
11: 55,286,627 (GRCm39) |
Q324* |
probably null |
Het |
| Spopfm2 |
T |
G |
3: 94,083,605 (GRCm39) |
K69Q |
possibly damaging |
Het |
| Srebf1 |
T |
C |
11: 60,097,328 (GRCm39) |
T171A |
probably benign |
Het |
| Srrd |
A |
G |
5: 112,488,988 (GRCm39) |
I54T |
possibly damaging |
Het |
| Tecpr1 |
G |
T |
5: 144,133,235 (GRCm39) |
Q1072K |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,148,274 (GRCm39) |
V377E |
probably benign |
Het |
| Tln1 |
T |
A |
4: 43,545,721 (GRCm39) |
H919L |
probably benign |
Het |
| Tm9sf3 |
C |
T |
19: 41,205,859 (GRCm39) |
S516N |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,951,880 (GRCm39) |
T940S |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,782,771 (GRCm39) |
R64C |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,019 (GRCm39) |
E174G |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,757,841 (GRCm39) |
T1183A |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,527,843 (GRCm39) |
M1245L |
possibly damaging |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,614 (GRCm39) |
Y259C |
probably damaging |
Het |
| Zfp329 |
A |
G |
7: 12,544,694 (GRCm39) |
F277L |
probably damaging |
Het |
| Zfp683 |
C |
T |
4: 133,783,106 (GRCm39) |
T190I |
possibly damaging |
Het |
|
| Other mutations in Sharpin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Sharpin
|
APN |
15 |
76,232,424 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Sharpin
|
UTSW |
15 |
76,232,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0012:Sharpin
|
UTSW |
15 |
76,232,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1733:Sharpin
|
UTSW |
15 |
76,232,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1735:Sharpin
|
UTSW |
15 |
76,232,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2051:Sharpin
|
UTSW |
15 |
76,232,407 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2909:Sharpin
|
UTSW |
15 |
76,234,811 (GRCm39) |
unclassified |
probably benign |
|
|
R4749:Sharpin
|
UTSW |
15 |
76,231,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5027:Sharpin
|
UTSW |
15 |
76,234,225 (GRCm39) |
unclassified |
probably benign |
|
|
R5050:Sharpin
|
UTSW |
15 |
76,232,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Sharpin
|
UTSW |
15 |
76,231,811 (GRCm39) |
unclassified |
probably benign |
|
|
R5172:Sharpin
|
UTSW |
15 |
76,231,741 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5428:Sharpin
|
UTSW |
15 |
76,234,866 (GRCm39) |
unclassified |
probably benign |
|
|
R5610:Sharpin
|
UTSW |
15 |
76,234,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8110:Sharpin
|
UTSW |
15 |
76,231,965 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8358:Sharpin
|
UTSW |
15 |
76,232,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAGTCCTAGCCGGAAGC -3'
(R):5'- CTGAAAGGTGACTAGCTTGGCC -3'
Sequencing Primer
(F):5'- CGTCCAGGCCGCTCAGG -3'
(R):5'- GAGATCTGGGACCATTCCTATCG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation