Mutagenetix > Incidental Mutation

Incidental Mutation 'R5172:Sharpin'

398851

Institutional Source

Beutler Lab

Gene Symbol

Sharpin

Ensembl Gene

ENSMUSG00000022552

Gene Name

SHANK-associated RH domain interacting protein

Synonyms

SIPL1, 0610041B22Rik, cpdm

MMRRC Submission

042752-MU

Accession Numbers

Essential gene?

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

Stock #

R5172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76231240-76235310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76231741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 323 (S323P)

Ref Sequence

ENSEMBL: ENSMUSP00000023211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160853] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000160172] [ENSMUST00000160560] [ENSMUST00000229013] [ENSMUST00000231045] [ENSMUST00000230314] [ENSMUST00000230706]

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 benign
Transcript: ENSMUST00000023211
AA Change: S323P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: S323P

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: ENSMUST00000147001

Predicted Effect

unknown
Transcript: ENSMUST00000159429
AA Change: S25P

SMART Domains

Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552
AA Change: S25P

Domain	Start	End	E-Value	Type
ZnF_RBZ	46	70	9.65e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000229710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229292

Predicted Effect

probably benign
Transcript: ENSMUST00000229013

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229946

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,266,434 (GRCm39)	Y52C	probably damaging	Het
Acmsd	C	T	1: 127,681,585 (GRCm39)	R183*	probably null	Het
Anxa2	T	A	9: 69,392,533 (GRCm39)	D127E	probably damaging	Het
Atrnl1	T	A	19: 57,673,945 (GRCm39)	Y593*	probably null	Het
Atxn2	C	T	5: 121,933,098 (GRCm39)		probably null	Het
Ccl6	A	T	11: 83,480,169 (GRCm39)	Y66N	probably damaging	Het
Ccng1	A	G	11: 40,642,113 (GRCm39)	V223A	probably benign	Het
Cfap44	T	C	16: 44,269,556 (GRCm39)	Y1187H	probably benign	Het
Cfc1	A	T	1: 34,575,011 (GRCm39)	I10F	probably benign	Het
Chrne	T	A	11: 70,506,352 (GRCm39)	T365S	probably benign	Het
Clec4b1	G	T	6: 123,048,414 (GRCm39)	R183L	probably benign	Het
Csmd2	A	C	4: 128,371,190 (GRCm39)	Q1926P	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dzip1	T	A	14: 119,124,563 (GRCm39)	Q570L	probably damaging	Het
Fam149a	T	A	8: 45,797,690 (GRCm39)	Q507L	probably damaging	Het
Frem3	T	C	8: 81,339,195 (GRCm39)	V496A	probably benign	Het
Fryl	A	T	5: 73,259,016 (GRCm39)	D589E	possibly damaging	Het
Hemk1	T	C	9: 107,206,631 (GRCm39)	E4G	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnh7	T	C	2: 62,569,508 (GRCm39)	D796G	possibly damaging	Het
Lemd2	G	T	17: 27,414,356 (GRCm39)	S326*	probably null	Het
Mdc1	T	C	17: 36,163,982 (GRCm39)	S1177P	probably benign	Het
Mfsd4b4	A	G	10: 39,770,083 (GRCm39)	F78S	probably damaging	Het
Mmgt2	T	A	11: 62,555,954 (GRCm39)	F101I	possibly damaging	Het
Myo18a	T	C	11: 77,714,924 (GRCm39)	L785P	probably damaging	Het
Nup155	C	A	15: 8,139,026 (GRCm39)	Q33K	probably benign	Het
Or52r1c	T	C	7: 102,734,884 (GRCm39)	L48P	probably damaging	Het
Or5w19	A	G	2: 87,699,171 (GRCm39)	T279A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank1	A	T	19: 34,818,202 (GRCm39)	C112*	probably null	Het
Pcmtd1	T	A	1: 7,233,485 (GRCm39)	M23K	probably benign	Het
Rere	A	T	4: 150,654,726 (GRCm39)	R419S	unknown	Het
Rpf1	T	C	3: 146,218,050 (GRCm39)	R155G	possibly damaging	Het
Sema7a	A	G	9: 57,864,961 (GRCm39)	T421A	probably benign	Het
Slamf6	A	G	1: 171,764,147 (GRCm39)	E180G	probably benign	Het
Snd1	T	G	6: 28,886,615 (GRCm39)	V874G	possibly damaging	Het
Sult6b2	A	T	6: 142,743,657 (GRCm39)	V123D	probably damaging	Het
Tpk1	A	T	6: 43,536,951 (GRCm39)		probably null	Het
Vmn1r160	A	T	7: 22,570,761 (GRCm39)	N38I	probably damaging	Het
Wdr93	T	A	7: 79,402,241 (GRCm39)	I180N	probably damaging	Het
Ythdf3	C	T	3: 16,258,198 (GRCm39)	T119I	probably damaging	Het
Zc3h18	T	G	8: 123,134,159 (GRCm39)		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
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
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'- GGTGCTACACATCTCACAGC -3'
(R):5'- AAGATGGAGACCCTGCTTTTC -3'

Sequencing Primer
(F):5'- TTGAGGCATTGATGAAAGTGC -3'
(R):5'- AAGATGGAGACCCTGCTTTTCTTTAC -3'

Posted On

2016-07-06