Incidental Mutation 'R5428:Sharpin'
| ID |
427036 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sharpin
|
| Ensembl Gene |
ENSMUSG00000022552 |
| Gene Name |
SHANK-associated RH domain interacting protein |
| Synonyms |
SIPL1, 0610041B22Rik, cpdm |
| MMRRC Submission |
042994-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R5428 (G1)
|
| Quality Score |
192 |
|
Status
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
C |
18: 6,635,918 (GRCm39) |
V324L |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,469,681 (GRCm39) |
C982R |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,323 (GRCm39) |
C665Y |
probably damaging |
Het |
| Adra1d |
A |
G |
2: 131,403,323 (GRCm39) |
S256P |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,921,313 (GRCm39) |
Y194F |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,231,060 (GRCm39) |
D1150Y |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,387 (GRCm39) |
M1L |
possibly damaging |
Het |
| Colgalt1 |
G |
T |
8: 72,075,420 (GRCm39) |
R442L |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,406,705 (GRCm39) |
V14A |
unknown |
Het |
| Defa30 |
A |
G |
8: 21,625,419 (GRCm39) |
D61G |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,266,804 (GRCm39) |
C308S |
probably benign |
Het |
| Emc4 |
A |
G |
2: 112,197,700 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
A |
G |
6: 98,993,592 (GRCm39) |
V104A |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,328,824 (GRCm39) |
L1319R |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja10 |
T |
A |
4: 32,601,169 (GRCm39) |
H405L |
probably benign |
Het |
| Gm27047 |
A |
G |
6: 130,607,527 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
T |
A |
10: 10,595,307 (GRCm39) |
T774S |
probably damaging |
Het |
| Gtse1 |
A |
C |
15: 85,746,340 (GRCm39) |
D52A |
probably benign |
Het |
| Kctd17 |
T |
A |
15: 78,312,982 (GRCm39) |
F42Y |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,488,878 (GRCm39) |
K178E |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,376,125 (GRCm39) |
E175G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,278,661 (GRCm39) |
I5927T |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,191 (GRCm39) |
N935S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,019,295 (GRCm39) |
I720V |
probably benign |
Het |
| Map3k5 |
C |
T |
10: 19,899,399 (GRCm39) |
H219Y |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,884,787 (GRCm39) |
T314A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,237,377 (GRCm39) |
V615A |
possibly damaging |
Het |
| Mcmbp |
C |
T |
7: 128,306,248 (GRCm39) |
V457I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nacc1 |
T |
C |
8: 85,402,783 (GRCm39) |
I337V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,359,780 (GRCm39) |
D1475G |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,457,137 (GRCm39) |
D392E |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,642,355 (GRCm39) |
T1297A |
possibly damaging |
Het |
| Plag1 |
C |
T |
4: 3,905,538 (GRCm39) |
V51I |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,089,208 (GRCm39) |
E616K |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,135,280 (GRCm39) |
M415V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,176,414 (GRCm39) |
E1683K |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,406 (GRCm39) |
F90I |
probably benign |
Het |
| Rcvrn |
A |
G |
11: 67,590,875 (GRCm39) |
E153G |
possibly damaging |
Het |
| Skil |
T |
A |
3: 31,151,647 (GRCm39) |
D56E |
probably benign |
Het |
| Slc22a18 |
G |
T |
7: 143,033,082 (GRCm39) |
G57W |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,788,406 (GRCm39) |
D154G |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,400,746 (GRCm39) |
N156K |
probably benign |
Het |
| Tcea1 |
A |
T |
1: 4,950,568 (GRCm39) |
|
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,261,755 (GRCm39) |
V611A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,588 (GRCm39) |
M1V |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,689 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,736,620 (GRCm39) |
K1207R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,591,448 (GRCm39) |
T12747A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,715,480 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,569,175 (GRCm39) |
D1147G |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,395 (GRCm39) |
I310V |
probably benign |
Het |
| Washc4 |
A |
C |
10: 83,410,386 (GRCm39) |
D658A |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,077,003 (GRCm39) |
F1243L |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,784 (GRCm39) |
S605P |
probably benign |
Het |
| Zfy1 |
T |
G |
Y: 726,205 (GRCm39) |
H520P |
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 |
|
R2172:Sharpin
|
UTSW |
15 |
76,234,866 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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'- CTAACAGTCCTAGCCGGAAG -3'
(R):5'- CTGAAAGGTGACTAGCTTGGCC -3'
Sequencing Primer
(F):5'- CCGGAAGCGTCCAGGCC -3'
(R):5'- GAGATCTGGGACCATTCCTATCG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation