Mutagenetix > Incidental Mutation

Incidental Mutation 'R0012:Sharpin'

32584

Institutional Source

Beutler Lab

Gene Symbol

Sharpin

Ensembl Gene

ENSMUSG00000022552

Gene Name

SHANK-associated RH domain interacting protein

Synonyms

SIPL1, 0610041B22Rik, cpdm

MMRRC Submission

038307-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R0012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76231240-76235310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76232543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 156 (P156T)

Ref Sequence

ENSEMBL: ENSMUSP00000023211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160560] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000160172] [ENSMUST00000160853] [ENSMUST00000230314] [ENSMUST00000231045] [ENSMUST00000230706] [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

possibly damaging
Transcript: ENSMUST00000023211
AA Change: P156T

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: P156T

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

unknown
Transcript: ENSMUST00000160560
AA Change: N97K

SMART Domains

Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: N97K

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: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

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

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

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

noncoding transcript
Transcript: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

unknown
Transcript: ENSMUST00000230314
AA Change: N97K

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229292

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

probably benign
Transcript: ENSMUST00000229013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229710

Meta Mutation Damage Score

0.0888

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.7%

Validation Efficiency

98% (81/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	A	T	2: 130,894,840 (GRCm39)	L687Q	probably damaging	Het
Adap1	A	G	5: 139,293,489 (GRCm39)		probably benign	Het
Add2	T	A	6: 86,075,610 (GRCm39)	V253E	probably damaging	Het
Agtr1a	A	T	13: 30,565,732 (GRCm39)	I266F	probably damaging	Het
Anxa9	A	G	3: 95,215,406 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Bnip3	A	G	7: 138,500,401 (GRCm39)		probably benign	Het
Brwd1	A	C	16: 95,860,852 (GRCm39)	S311R	probably damaging	Het
C2cd3	G	A	7: 100,067,729 (GRCm39)	V871M	possibly damaging	Het
Cacul1	A	G	19: 60,552,691 (GRCm39)	W145R	probably damaging	Het
Celf5	C	A	10: 81,305,346 (GRCm39)	V141L	probably damaging	Het
Cfap206	C	A	4: 34,714,519 (GRCm39)	L392F	possibly damaging	Het
Chd2	G	T	7: 73,105,267 (GRCm39)	T192K	probably damaging	Het
Chrna10	T	C	7: 101,764,264 (GRCm39)	N40S	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clspn	T	A	4: 126,458,722 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Col5a3	A	T	9: 20,688,404 (GRCm39)		probably benign	Het
Copb1	T	A	7: 113,836,643 (GRCm39)	K366N	probably damaging	Het
Cul9	G	A	17: 46,849,436 (GRCm39)	R570C	probably benign	Het
Cyp2c70	A	T	19: 40,175,687 (GRCm39)	L7Q	probably null	Het
Dock2	T	C	11: 34,674,622 (GRCm39)	E10G	possibly damaging	Het
Dpysl4	T	G	7: 138,677,799 (GRCm39)	I412S	probably benign	Het
Eaf2	T	A	16: 36,628,536 (GRCm39)		probably benign	Het
Fasl	T	C	1: 161,615,733 (GRCm39)	D41G	probably benign	Het
Fat2	A	G	11: 55,153,697 (GRCm39)	V3505A	probably benign	Het
Fbxo24	A	G	5: 137,620,256 (GRCm39)	F101S	probably damaging	Het
Fdft1	T	C	14: 63,415,147 (GRCm39)	I28M	probably benign	Het
Gcnt3	T	C	9: 69,941,367 (GRCm39)	I400M	probably benign	Het
Get3	T	C	8: 85,751,725 (GRCm39)		probably benign	Het
Gpd2	T	A	2: 57,228,880 (GRCm39)	M228K	probably damaging	Het
Gsap	T	A	5: 21,431,227 (GRCm39)		probably benign	Het
Hipk1	A	G	3: 103,670,996 (GRCm39)	M467T	probably damaging	Het
Hmgb4	T	A	4: 128,154,518 (GRCm39)	I17F	probably damaging	Het
Ints10	C	A	8: 69,260,127 (GRCm39)	L284M	probably benign	Het
Kif17	T	G	4: 138,021,059 (GRCm39)	S606A	probably damaging	Het
Lifr	C	A	15: 7,205,089 (GRCm39)	T442K	possibly damaging	Het
Lypd4	A	G	7: 24,564,757 (GRCm39)	L127P	probably damaging	Het
Lyst	A	G	13: 13,862,279 (GRCm39)	H2605R	probably benign	Het
Map3k4	A	G	17: 12,457,076 (GRCm39)	S1289P	probably damaging	Het
Mgam	T	A	6: 40,742,190 (GRCm39)		probably null	Het
Mob1b	G	A	5: 88,903,943 (GRCm39)		probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Ms4a4c	C	A	19: 11,396,344 (GRCm39)		probably benign	Het
Mthfd2l	A	T	5: 91,109,242 (GRCm39)	H224L	probably damaging	Het
Myh8	T	C	11: 67,190,847 (GRCm39)	Y1350H	probably benign	Het
Nectin2	T	C	7: 19,464,669 (GRCm39)		probably benign	Het
Nos1	A	C	5: 118,031,967 (GRCm39)	N305T	probably damaging	Het
Ogfrl1	T	A	1: 23,409,206 (GRCm39)	Q340L	possibly damaging	Het
Or2aj5	T	C	16: 19,425,190 (GRCm39)	N76S	probably benign	Het
Or4f62	A	T	2: 111,987,171 (GRCm39)	N292Y	possibly damaging	Het
Or6k14	T	G	1: 173,927,773 (GRCm39)	F250V	probably damaging	Het
Or9i1	C	A	19: 13,839,187 (GRCm39)	T10K	probably damaging	Het
Orc1	T	C	4: 108,452,843 (GRCm39)		probably null	Het
Plekhg5	C	A	4: 152,189,207 (GRCm39)	D249E	probably benign	Het
Plet1	A	G	9: 50,410,430 (GRCm39)	I74V	probably benign	Het
Psmd2	T	A	16: 20,480,434 (GRCm39)	D718E	probably damaging	Het
Rab33b	G	T	3: 51,391,737 (GRCm39)		probably benign	Het
Rae1	T	A	2: 172,844,466 (GRCm39)	F4I	unknown	Het
Ralgapa2	A	G	2: 146,254,672 (GRCm39)	Y821H	probably benign	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Slc38a4	C	T	15: 96,897,510 (GRCm39)	R435H	probably damaging	Het
Snrnp200	T	C	2: 127,070,469 (GRCm39)	V1061A	probably benign	Het
Suclg1	A	G	6: 73,247,980 (GRCm39)	T234A	possibly damaging	Het
Swsap1	T	C	9: 21,868,318 (GRCm39)	C197R	probably benign	Het
Tbx15	A	G	3: 99,259,412 (GRCm39)	T428A	probably benign	Het
Tet2	T	C	3: 133,182,319 (GRCm39)	Y1215C	probably damaging	Het
Tjp1	A	G	7: 64,979,523 (GRCm39)		probably benign	Het
Tmem209	G	T	6: 30,502,112 (GRCm39)		probably benign	Het
Tnpo3	T	C	6: 29,589,176 (GRCm39)	E58G	probably damaging	Het
Trp53bp2	T	A	1: 182,272,283 (GRCm39)	M464K	probably damaging	Het
Ttc32	A	G	12: 9,085,897 (GRCm39)	Y148C	possibly damaging	Het
Unc80	T	C	1: 66,546,550 (GRCm39)	S541P	probably damaging	Het
Ushbp1	T	C	8: 71,847,684 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,725,136 (GRCm39)	M22V	probably benign	Het
Vmn2r100	A	T	17: 19,746,296 (GRCm39)	E485V	probably damaging	Het
Wdr24	G	A	17: 26,046,087 (GRCm39)	V471I	probably benign	Het
Zfp35	T	A	18: 24,136,001 (GRCm39)	M115K	probably benign	Het
Zfp429	G	A	13: 67,538,796 (GRCm39)	S216L	probably benign	Het
Zfp644	T	G	5: 106,782,909 (GRCm39)	E1155A	probably benign	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
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
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'- ACATGATGCTGCGCCAGGAC -3'
(R):5'- TTTGAGGGCCAAGGCTGGGA -3'

Sequencing Primer
(F):5'- AGGACTGCTGCCACTTGG -3'
(R):5'- TAGCCTGAATTATGGCCTAAGG -3'

Posted On

2013-05-09