Mutagenetix > Incidental Mutation

Incidental Mutation 'R2909:Sharpin'

261156

Institutional Source

Beutler Lab

Gene Symbol

Sharpin

Ensembl Gene

ENSMUSG00000022552

Gene Name

SHANK-associated RH domain interacting protein

Synonyms

SIPL1, 0610041B22Rik, cpdm

MMRRC Submission

040496-MU

Accession Numbers

Essential gene?

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

Stock #

R2909 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

76231240-76235310 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 76234811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160560] [ENSMUST00000160914] [ENSMUST00000160172] [ENSMUST00000160853] [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: V23A

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: V23A

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: V23A

SMART Domains

Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: V23A

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: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147001

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: 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

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: ENSMUST00000208833

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: V23A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229710

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr5	G	A	2: 158,467,140 (GRCm39)	G27R	possibly damaging	Het
Bltp1	A	G	3: 37,002,102 (GRCm39)	D1349G	probably damaging	Het
Chrm3	G	T	13: 9,928,033 (GRCm39)	D334E	probably benign	Het
Clic5	A	C	17: 44,586,146 (GRCm39)	T212P	probably benign	Het
Dapk1	G	A	13: 60,864,631 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,049,114 (GRCm39)	L3262H	probably damaging	Het
Epg5	G	C	18: 78,026,691 (GRCm39)	W1227C	probably damaging	Het
Fancm	T	C	12: 65,171,630 (GRCm39)	S1757P	probably damaging	Het
Gm3604	G	C	13: 62,516,832 (GRCm39)	H509D	probably benign	Het
Gramd4	G	T	15: 86,006,384 (GRCm39)	E163*	probably null	Het
Hip1r	T	A	5: 124,138,656 (GRCm39)		probably null	Het
Ice1	G	T	13: 70,744,292 (GRCm39)	T2097K	probably damaging	Het
Il12a	TCAC	TC	3: 68,605,320 (GRCm39)		probably null	Het
Kbtbd7	A	G	14: 79,665,922 (GRCm39)	T585A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnq3	T	C	15: 65,897,085 (GRCm39)	T272A	possibly damaging	Het
Ly6l	T	G	15: 75,321,481 (GRCm39)		probably null	Het
Minar1	T	C	9: 89,473,331 (GRCm39)	N860S	probably damaging	Het
Mrps11	C	A	7: 78,438,497 (GRCm39)	A83E	probably damaging	Het
Or1af1	C	T	2: 37,110,188 (GRCm39)	P229L	probably damaging	Het
Pax7	T	C	4: 139,556,007 (GRCm39)	I156V	possibly damaging	Het
Plbd1	A	T	6: 136,611,572 (GRCm39)	V235D	probably damaging	Het
Pml	T	C	9: 58,154,526 (GRCm39)	S76G	possibly damaging	Het
Ppp1r42	T	A	1: 10,073,637 (GRCm39)		probably benign	Het
Rsl24d1	T	C	9: 73,029,585 (GRCm39)	L61S	probably damaging	Het
Rtp2	T	C	16: 23,746,235 (GRCm39)	E132G	probably damaging	Het
Sgk1	A	G	10: 21,870,715 (GRCm39)	I23V	probably benign	Het
Sipa1l1	T	A	12: 82,404,105 (GRCm39)	Y533N	probably benign	Het
Slc12a9	T	C	5: 137,330,463 (GRCm39)	I81V	probably benign	Het
Stxbp5l	G	A	16: 37,028,548 (GRCm39)	T505M	possibly damaging	Het
Tmem40	A	G	6: 115,713,342 (GRCm39)		probably null	Het
Tnfrsf18	A	T	4: 156,112,727 (GRCm39)	N138Y	probably damaging	Het
Vmn2r87	A	T	10: 130,314,865 (GRCm39)	N240K	probably damaging	Het
Vmn2r91	A	G	17: 18,356,661 (GRCm39)	E776G	probably damaging	Het
Vmn2r92	T	A	17: 18,405,377 (GRCm39)	N840K	possibly damaging	Het
Vmn2r98	T	C	17: 19,287,664 (GRCm39)	I499T	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
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'- GACTGTCGTCAAGGTAATCGAAAG -3'
(R):5'- GGACCATTCCTATCGCTTAGCG -3'

Sequencing Primer
(F):5'- TCGAAAGAAAGTTGATTCCAGAATCG -3'
(R):5'- CATCAGGCTCTGGTAGTGC -3'

Posted On

2015-01-23