Incidental Mutation 'R5610:Sharpin'
| ID |
440326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sharpin
|
| Ensembl Gene |
ENSMUSG00000022552 |
| Gene Name |
SHANK-associated RH domain interacting protein |
| Synonyms |
SIPL1, 0610041B22Rik, cpdm |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R5610 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76231240-76235310 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 76234253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023210]
[ENSMUST00000023211]
[ENSMUST00000023212]
[ENSMUST00000160560]
[ENSMUST00000160853]
[ENSMUST00000160172]
[ENSMUST00000160914]
[ENSMUST00000208833]
[ENSMUST00000161527]
[ENSMUST00000231045]
[ENSMUST00000230314]
[ENSMUST00000229013]
|
| 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 |
probably null
Transcript: ENSMUST00000023211
|
| SMART Domains |
Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
| 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 |
noncoding transcript
Transcript: ENSMUST00000152151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160097
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147001
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160560
|
| SMART Domains |
Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
| 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 |
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: 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 |
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 |
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: 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: ENSMUST00000161786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208833
|
| 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: ENSMUST00000229292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230016
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229013
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,156 (GRCm39) |
D247G |
possibly damaging |
Het |
| 1700123K08Rik |
A |
G |
5: 138,562,403 (GRCm39) |
|
probably null |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Accsl |
C |
A |
2: 93,692,118 (GRCm39) |
|
probably null |
Het |
| Adad2 |
C |
T |
8: 120,341,500 (GRCm39) |
R171C |
probably benign |
Het |
| Adgrv1 |
A |
C |
13: 81,669,236 (GRCm39) |
L2440R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,232,845 (GRCm39) |
V239A |
probably damaging |
Het |
| Aoc1l2 |
G |
A |
6: 48,907,953 (GRCm39) |
V318I |
probably benign |
Het |
| Arhgap28 |
G |
A |
17: 68,203,235 (GRCm39) |
Q73* |
probably null |
Het |
| Arrdc5 |
C |
T |
17: 56,604,846 (GRCm39) |
R147H |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,930,492 (GRCm39) |
Y1990H |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,148 (GRCm39) |
E494G |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,119,418 (GRCm39) |
I701N |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,979,217 (GRCm39) |
Y699C |
probably damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,537 (GRCm39) |
T227P |
probably benign |
Het |
| Ccr3 |
C |
A |
9: 123,829,518 (GRCm39) |
D284E |
probably damaging |
Het |
| Cdh13 |
T |
C |
8: 119,578,462 (GRCm39) |
V163A |
possibly damaging |
Het |
| CK137956 |
C |
T |
4: 127,840,440 (GRCm39) |
|
probably null |
Het |
| Cltc |
T |
C |
11: 86,612,472 (GRCm39) |
S529G |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
| Ddx11 |
A |
G |
17: 66,457,021 (GRCm39) |
K783E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,538,288 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,486,005 (GRCm39) |
H408R |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,221 (GRCm39) |
K533R |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,406,109 (GRCm39) |
Y953* |
probably null |
Het |
| Fosl1 |
T |
A |
19: 5,505,133 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
A |
G |
6: 97,283,752 (GRCm39) |
M373T |
probably benign |
Het |
| Gm1968 |
A |
G |
16: 29,777,557 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr26 |
T |
C |
7: 131,568,694 (GRCm39) |
V13A |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,303,117 (GRCm39) |
N106S |
possibly damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,429 (GRCm39) |
E546A |
probably damaging |
Het |
| Itpr3 |
C |
T |
17: 27,337,540 (GRCm39) |
T2450M |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,953,450 (GRCm39) |
Y1245N |
probably damaging |
Het |
| Klrb1f |
G |
A |
6: 129,031,335 (GRCm39) |
|
probably null |
Het |
| Lars1 |
A |
G |
18: 42,390,156 (GRCm39) |
L37P |
probably benign |
Het |
| Lnpk |
T |
C |
2: 74,378,369 (GRCm39) |
T131A |
probably benign |
Het |
| Mob3c |
C |
T |
4: 115,690,878 (GRCm39) |
T156I |
probably benign |
Het |
| Nadk |
T |
A |
4: 155,668,628 (GRCm39) |
W100R |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,061 (GRCm39) |
I161F |
probably benign |
Het |
| Or4c107 |
A |
C |
2: 88,789,170 (GRCm39) |
D120A |
probably damaging |
Het |
| Or6c204 |
G |
A |
10: 129,022,426 (GRCm39) |
T288I |
probably damaging |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,276 (GRCm39) |
E243G |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,315,828 (GRCm39) |
T361A |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,769,059 (GRCm39) |
Q1198K |
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,550,124 (GRCm39) |
I102N |
probably damaging |
Het |
| Prss1 |
G |
A |
6: 41,438,147 (GRCm39) |
V25I |
probably benign |
Het |
| Pspc1 |
A |
G |
14: 57,015,388 (GRCm39) |
Y77H |
probably damaging |
Het |
| Rnf5 |
T |
C |
17: 34,820,712 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,811,399 (GRCm39) |
M235I |
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,741,893 (GRCm39) |
Y776C |
probably damaging |
Het |
| Slc12a4 |
C |
A |
8: 106,676,845 (GRCm39) |
V482L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,514,022 (GRCm39) |
|
probably null |
Het |
| Smtn |
G |
T |
11: 3,479,582 (GRCm39) |
T495N |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,001,991 (GRCm39) |
T171A |
probably benign |
Het |
| Sprr2e |
T |
C |
3: 92,260,399 (GRCm39) |
*77R |
probably null |
Het |
| Syngap1 |
T |
A |
17: 27,178,754 (GRCm39) |
D443E |
possibly damaging |
Het |
| Taldo1 |
T |
C |
7: 140,972,205 (GRCm39) |
V24A |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,391,778 (GRCm39) |
N8K |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,689,577 (GRCm39) |
Y563C |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,722,593 (GRCm39) |
D1342V |
probably benign |
Het |
| Usp7 |
C |
T |
16: 8,534,374 (GRCm39) |
|
probably null |
Het |
| Wbp1 |
C |
T |
6: 83,097,216 (GRCm39) |
G75D |
probably damaging |
Het |
| Zfp180 |
G |
T |
7: 23,804,315 (GRCm39) |
V245F |
probably benign |
Het |
| Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,478,530 (GRCm39) |
C236S |
probably 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 |
|
R5428:Sharpin
|
UTSW |
15 |
76,234,866 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TTAGTCCTGCAGCAATGCTTG -3'
(R):5'- TTCGTGTGGGTAACGAAGAG -3'
Sequencing Primer
(F):5'- GCTCTTCTTTTTCTTACTTGTCTGG -3'
(R):5'- TTCAGGTCAGTTTAGAATGGCCC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation