Mutagenetix > Incidental Mutation

Incidental Mutation 'R3911:Sh3d19'

309366

Institutional Source

Beutler Lab

Gene Symbol

Sh3d19

Ensembl Gene

ENSMUSG00000028082

Gene Name

SH3 domain protein D19

Synonyms

Kryn

MMRRC Submission

040909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85878416-86037833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86014534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 442 (V442M)

Ref Sequence

ENSEMBL: ENSMUSP00000138320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107664] [ENSMUST00000182666]

AlphaFold

Q91X43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107664
AA Change: V442M

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: V442M

Domain	Start	End	E-Value	Type
low complexity region	336	361	N/A	INTRINSIC
SH3	417	472	1.33e-3	SMART
SH3	497	552	1.88e-21	SMART
SH3	573	628	3.99e-16	SMART
SH3	663	718	2.8e-20	SMART
SH3	732	787	7.62e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182666
AA Change: V442M

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: V442M

Domain	Start	End	E-Value	Type
low complexity region	336	361	N/A	INTRINSIC
SH3	417	472	1.33e-3	SMART
SH3	497	552	1.88e-21	SMART
SH3	573	628	3.99e-16	SMART
SH3	663	718	2.8e-20	SMART
SH3	732	787	7.62e-22	SMART

Meta Mutation Damage Score

0.0682

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	A	5: 124,227,909 (GRCm39)	I111F	probably benign	Het
Abcc12	A	C	8: 87,255,048 (GRCm39)		probably benign	Het
Adgre1	G	T	17: 57,754,860 (GRCm39)	V653L	probably damaging	Het
Aebp2	T	A	6: 140,593,707 (GRCm39)	D230E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,974,441 (GRCm39)	E2291G	probably damaging	Het
Casp8	A	T	1: 58,872,864 (GRCm39)	S267C	probably damaging	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cd2ap	T	A	17: 43,126,980 (GRCm39)		probably null	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,728,897 (GRCm39)	E1155D	probably damaging	Het
Cnnm2	A	G	19: 46,866,375 (GRCm39)	E841G	probably damaging	Het
Cntrl	G	A	2: 35,010,061 (GRCm39)	R245H	probably damaging	Het
Cyp2b23	A	T	7: 26,380,842 (GRCm39)	S128T	probably benign	Het
Dhrs11	A	T	11: 84,712,579 (GRCm39)	I196N	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Edc3	A	T	9: 57,655,686 (GRCm39)	I479F	possibly damaging	Het
Emg1	T	A	6: 124,682,009 (GRCm39)	M172L	probably benign	Het
Epha7	G	A	4: 28,938,680 (GRCm39)	V512I	probably benign	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Fasl	C	A	1: 161,615,760 (GRCm39)	C32F	probably benign	Het
Flg	A	T	3: 93,187,307 (GRCm39)	H253L	probably benign	Het
Fnip2	A	T	3: 79,386,812 (GRCm39)	D971E	possibly damaging	Het
Gab2	A	G	7: 96,948,280 (GRCm39)	Y290C	probably damaging	Het
Gm17067	T	A	7: 42,360,104 (GRCm39)	I43L	possibly damaging	Het
Gpld1	A	G	13: 25,146,305 (GRCm39)	Y183C	probably damaging	Het
Gpr137c	C	A	14: 45,516,392 (GRCm39)	P327T	probably benign	Het
Hepacam2	A	G	6: 3,494,477 (GRCm39)	M1T	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Iqca1l	A	T	5: 24,750,440 (GRCm39)		probably benign	Het
Itgb8	T	A	12: 119,131,740 (GRCm39)	E635V	possibly damaging	Het
Kat14	T	C	2: 144,245,982 (GRCm39)	V469A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl18	A	T	9: 110,265,151 (GRCm39)	L285Q	probably damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Krtap4-8	A	T	11: 99,670,863 (GRCm39)	C203S	unknown	Het
Lsp1	C	T	7: 142,040,098 (GRCm39)	S75F	probably damaging	Het
Map1b	A	G	13: 99,567,580 (GRCm39)	S1714P	unknown	Het
Mcm2	A	G	6: 88,865,234 (GRCm39)	I481T	probably damaging	Het
Mcpt9	T	C	14: 56,265,136 (GRCm39)	T122A	probably benign	Het
Megf10	A	T	18: 57,422,465 (GRCm39)	R947W	probably damaging	Het
Or2ag18	A	T	7: 106,405,072 (GRCm39)	V199D	probably damaging	Het
Or51ai2	A	T	7: 103,586,616 (GRCm39)	N10Y	possibly damaging	Het
Pank4	A	G	4: 155,054,058 (GRCm39)	Y79C	probably damaging	Het
Pds5b	T	A	5: 150,670,171 (GRCm39)	N386K	probably benign	Het
Pfkm	A	G	15: 98,022,928 (GRCm39)	M362V	probably benign	Het
Phc2	T	C	4: 128,637,351 (GRCm39)		probably null	Het
Pou4f1	C	T	14: 104,703,611 (GRCm39)	A274T	unknown	Het
Proc	A	G	18: 32,256,758 (GRCm39)	L303P	probably damaging	Het
Ptk2b	C	T	14: 66,394,517 (GRCm39)	G821D	possibly damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Serpinb6c	T	C	13: 34,077,888 (GRCm39)	N161D	probably benign	Het
Sf3b1	G	A	1: 55,058,548 (GRCm39)	Q14*	probably null	Het
Slc30a8	A	G	15: 52,185,097 (GRCm39)	I140V	probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Strap	T	G	6: 137,712,380 (GRCm39)	C10G	probably damaging	Het
Tcf7	C	A	11: 52,173,793 (GRCm39)		probably benign	Het
Tmem114	A	T	16: 8,230,054 (GRCm39)	M116K	probably damaging	Het
Tmem63b	A	G	17: 45,988,884 (GRCm39)	S113P	probably damaging	Het
Tmtc3	A	C	10: 100,284,888 (GRCm39)	N582K	probably damaging	Het
Tnfrsf11b	G	A	15: 54,119,578 (GRCm39)		probably benign	Het
Tns2	T	C	15: 102,022,272 (GRCm39)		probably null	Het
Trim30a	A	G	7: 104,060,348 (GRCm39)	V476A	probably damaging	Het
Ush2a	T	A	1: 188,132,151 (GRCm39)	V791D	probably benign	Het
Vmn2r99	T	C	17: 19,614,635 (GRCm39)	F785S	possibly damaging	Het
Vps35l	A	G	7: 118,345,613 (GRCm39)	T49A	possibly damaging	Het
Wdr35	A	T	12: 9,036,077 (GRCm39)	I283F	probably benign	Het
Wnt10b	G	T	15: 98,672,219 (GRCm39)	A166E	possibly damaging	Het

Other mutations in Sh3d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Sh3d19	APN	3	86,005,492 (GRCm39)	missense	probably benign	0.01
IGL01483:Sh3d19	APN	3	86,022,103 (GRCm39)	missense	probably benign	0.09
IGL02272:Sh3d19	APN	3	86,028,474 (GRCm39)	missense	probably benign	0.02
IGL02308:Sh3d19	APN	3	86,001,017 (GRCm39)	missense	probably damaging	0.98
IGL02431:Sh3d19	APN	3	86,014,305 (GRCm39)	missense	probably damaging	1.00
R0277:Sh3d19	UTSW	3	86,033,978 (GRCm39)	missense	probably benign	0.00
R0323:Sh3d19	UTSW	3	86,033,978 (GRCm39)	missense	probably benign	0.00
R0624:Sh3d19	UTSW	3	86,022,213 (GRCm39)	missense	possibly damaging	0.96
R0639:Sh3d19	UTSW	3	86,014,280 (GRCm39)	missense	probably benign	0.00
R0673:Sh3d19	UTSW	3	86,014,280 (GRCm39)	missense	probably benign	0.00
R1148:Sh3d19	UTSW	3	86,014,634 (GRCm39)	missense	possibly damaging	0.82
R1148:Sh3d19	UTSW	3	86,014,634 (GRCm39)	missense	possibly damaging	0.82
R1569:Sh3d19	UTSW	3	86,033,951 (GRCm39)	missense	possibly damaging	0.83
R1738:Sh3d19	UTSW	3	86,027,913 (GRCm39)	missense	probably damaging	1.00
R3913:Sh3d19	UTSW	3	85,992,083 (GRCm39)	missense	probably damaging	0.97
R4246:Sh3d19	UTSW	3	86,033,995 (GRCm39)	missense	probably benign	0.06
R4327:Sh3d19	UTSW	3	86,031,020 (GRCm39)	missense	probably benign
R4663:Sh3d19	UTSW	3	86,030,570 (GRCm39)	missense	probably benign	0.06
R4730:Sh3d19	UTSW	3	86,024,171 (GRCm39)	missense	possibly damaging	0.89
R4812:Sh3d19	UTSW	3	86,031,074 (GRCm39)	missense	probably damaging	1.00
R4841:Sh3d19	UTSW	3	86,031,049 (GRCm39)	missense	probably damaging	1.00
R4842:Sh3d19	UTSW	3	86,031,049 (GRCm39)	missense	probably damaging	1.00
R5814:Sh3d19	UTSW	3	86,033,911 (GRCm39)	missense	probably benign	0.00
R6279:Sh3d19	UTSW	3	86,011,409 (GRCm39)	missense	possibly damaging	0.77
R6504:Sh3d19	UTSW	3	85,992,643 (GRCm39)	missense	probably benign
R6806:Sh3d19	UTSW	3	86,011,640 (GRCm39)	missense	probably damaging	0.99
R6916:Sh3d19	UTSW	3	85,992,218 (GRCm39)	missense	probably benign	0.03
R7012:Sh3d19	UTSW	3	85,992,320 (GRCm39)	missense	probably benign	0.01
R7147:Sh3d19	UTSW	3	86,011,584 (GRCm39)	missense	possibly damaging	0.71
R7367:Sh3d19	UTSW	3	86,011,535 (GRCm39)	missense	probably benign	0.21
R7590:Sh3d19	UTSW	3	86,022,213 (GRCm39)	missense	possibly damaging	0.96
R7739:Sh3d19	UTSW	3	86,031,038 (GRCm39)	missense	probably benign
R7971:Sh3d19	UTSW	3	86,022,103 (GRCm39)	missense	probably benign	0.09
R8321:Sh3d19	UTSW	3	86,001,071 (GRCm39)	missense	probably damaging	1.00
R8354:Sh3d19	UTSW	3	86,014,329 (GRCm39)	missense	probably benign	0.00
R8415:Sh3d19	UTSW	3	85,992,363 (GRCm39)	missense	probably benign	0.01
R8454:Sh3d19	UTSW	3	86,014,329 (GRCm39)	missense	probably benign	0.00
R8480:Sh3d19	UTSW	3	85,992,184 (GRCm39)	missense	probably benign	0.03
R8703:Sh3d19	UTSW	3	86,014,568 (GRCm39)	missense	probably damaging	0.99
R8807:Sh3d19	UTSW	3	85,992,659 (GRCm39)	missense	probably benign	0.00
R9032:Sh3d19	UTSW	3	86,033,992 (GRCm39)	missense	probably damaging	1.00
R9085:Sh3d19	UTSW	3	86,033,992 (GRCm39)	missense	probably damaging	1.00
R9171:Sh3d19	UTSW	3	85,990,918 (GRCm39)	start gained	probably benign
R9219:Sh3d19	UTSW	3	86,030,507 (GRCm39)	missense	possibly damaging	0.94
R9610:Sh3d19	UTSW	3	86,014,529 (GRCm39)	missense	possibly damaging	0.94
R9777:Sh3d19	UTSW	3	86,028,483 (GRCm39)	missense	probably benign	0.00
X0027:Sh3d19	UTSW	3	86,028,010 (GRCm39)	missense	probably damaging	1.00
Z1177:Sh3d19	UTSW	3	86,014,331 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTCAAGCTCTTCCCTTACTGAC -3'
(R):5'- CTGGCTAAAGTAACGCTGCTG -3'

Sequencing Primer
(F):5'- CTGCTCCTGCTATTACACA -3'
(R):5'- CTAAAGTAACGCTGCTGATACG -3'

Posted On

2015-04-17