Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Sharpin'

630833

Institutional Source

Beutler Lab

Gene Symbol

Sharpin

Ensembl Gene

ENSMUSG00000022552

Gene Name

SHANK-associated RH domain interacting protein

Synonyms

SIPL1, 0610041B22Rik, cpdm

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

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

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76231240-76235310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76231965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 271 (R271L)

Ref Sequence

ENSEMBL: ENSMUSP00000023211 (fasta)

Gene Model

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

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: R271L

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: R271L

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

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: 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

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: ENSMUST00000229013

Predicted Effect

probably benign
Transcript: ENSMUST00000230314

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd45	T	C	1: 160,978,889 (GRCm39)		probably null	Het
Appl1	C	A	14: 26,649,751 (GRCm39)	G592*	probably null	Het
Arfgef2	T	A	2: 166,720,464 (GRCm39)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,169,683 (GRCm39)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,771,835 (GRCm39)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,407,334 (GRCm39)	L61P	probably benign	Het
Cfap69	T	A	5: 5,632,515 (GRCm39)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,507,666 (GRCm39)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,087,303 (GRCm39)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,353,312 (GRCm39)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,703,550 (GRCm39)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,491,095 (GRCm39)	M461T	probably benign	Het
Fryl	A	G	5: 73,290,620 (GRCm39)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,789,017 (GRCm39)	I346T	probably benign	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,359,475 (GRCm39)	S150T	probably benign	Het
Galnt9	G	T	5: 110,763,339 (GRCm39)	W448L	probably damaging	Het
Gcnt2	G	T	13: 41,071,198 (GRCm39)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,471,012 (GRCm39)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,266 (GRCm39)	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,809,445 (GRCm39)	E217V	possibly damaging	Het
Itih2	A	G	2: 10,101,948 (GRCm39)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,568,540 (GRCm39)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,588,577 (GRCm39)	R28C	probably damaging	Het
Lama2	T	A	10: 26,866,866 (GRCm39)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,279 (GRCm39)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,236,561 (GRCm39)		probably null	Het
Lrp2	A	G	2: 69,336,797 (GRCm39)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,850,676 (GRCm39)	C879*	probably null	Het
Map3k1	A	G	13: 111,891,847 (GRCm39)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,537,709 (GRCm39)	H84N	probably benign	Het
Mia2	A	G	12: 59,155,873 (GRCm39)		probably null	Het
Mlip	G	T	9: 77,146,861 (GRCm39)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,702,113 (GRCm39)	Y466F	probably benign	Het
Nav2	T	A	7: 49,201,698 (GRCm39)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm39)	V560A	probably benign	Het
Ncln	A	T	10: 81,328,987 (GRCm39)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,509,765 (GRCm39)	D18E	probably benign	Het
Or10aa3	G	A	1: 173,878,091 (GRCm39)	A51T	probably benign	Het
Or12d2	A	G	17: 37,624,604 (GRCm39)	F224L	probably benign	Het
Or1ak2	T	C	2: 36,827,721 (GRCm39)	C197R	possibly damaging	Het
Or5w11	T	C	2: 87,458,951 (GRCm39)	I48T	possibly damaging	Het
Otop3	A	T	11: 115,230,221 (GRCm39)	M33L	probably benign	Het
Pate7	T	C	9: 35,689,329 (GRCm39)	*84W	probably null	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,422 (GRCm39)	I387T	possibly damaging	Het
Prb1c	C	T	6: 132,338,531 (GRCm39)	G229D	unknown	Het
Prdm9	T	A	17: 15,774,960 (GRCm39)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,095,737 (GRCm39)	D123G	probably damaging	Het
Prune2	G	A	19: 17,098,083 (GRCm39)	G1196S	probably benign	Het
Psd3	T	A	8: 68,573,708 (GRCm39)	S158C	probably damaging	Het
Rps18	A	G	17: 34,174,110 (GRCm39)	V15A	probably benign	Het
Sanbr	G	T	11: 23,526,764 (GRCm39)	T696N	probably benign	Het
Smad5	C	A	13: 56,871,701 (GRCm39)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,062,200 (GRCm39)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,256,492 (GRCm39)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,636,821 (GRCm39)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,949,099 (GRCm39)	F397V	probably damaging	Het
Tex36	G	A	7: 133,197,012 (GRCm39)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,705,760 (GRCm39)	A26S	unknown	Het
Usp50	T	A	2: 126,622,250 (GRCm39)		probably null	Het
Vmn2r5	A	T	3: 64,398,709 (GRCm39)	F757I	probably benign	Het
Zbbx	T	C	3: 75,062,749 (GRCm39)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,392,828 (GRCm39)	M168K	probably benign	Het
Zfp568	G	T	7: 29,722,551 (GRCm39)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,775,131 (GRCm39)	P391R	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
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
R8358:Sharpin	UTSW	15	76,232,197 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACAAGCCTAATTTCCGGTCC -3'
(R):5'- TGTCTCACTGAAGATCCACCC -3'

Sequencing Primer
(F):5'- AAGGCTTTGTCCTATAATAGAGAAGG -3'
(R):5'- ACCCACATTGCTCCATTGCAG -3'

Posted On

2020-06-30