Mutagenetix > Incidental Mutation

Incidental Mutation 'R0323:Sh3d19'

64998

Institutional Source

Beutler Lab

Gene Symbol

Sh3d19

Ensembl Gene

ENSMUSG00000028082

Gene Name

SH3 domain protein D19

Synonyms

Kryn

MMRRC Submission

038533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85878416-86037833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86033978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 777 (M777K)

Ref Sequence

ENSEMBL: ENSMUSP00000138320 (fasta)

Gene Model

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

AlphaFold

Q91X43

Predicted Effect

probably benign
Transcript: ENSMUST00000107664
AA Change: M777K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: M777K

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

probably benign
Transcript: ENSMUST00000182666
AA Change: M777K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: M777K

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

noncoding transcript
Transcript: ENSMUST00000183202

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 94.2%
20x: 86.1%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
4931429P17Rik	A	C	13: 48,114,493 (GRCm39)		noncoding transcript	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Accsl	T	A	2: 93,691,425 (GRCm39)	Q351L	probably benign	Het
Acot6	A	C	12: 84,155,953 (GRCm39)	E300D	probably benign	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Agps	T	A	2: 75,724,505 (GRCm39)	Y506*	probably null	Het
Appl1	A	T	14: 26,664,695 (GRCm39)	V446D	possibly damaging	Het
Arcn1	A	T	9: 44,670,356 (GRCm39)	I90N	probably damaging	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Barx1	A	G	13: 48,819,430 (GRCm39)	T243A	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Cacul1	A	G	19: 60,531,498 (GRCm39)	I257T	probably benign	Het
Chml	A	T	1: 175,514,650 (GRCm39)	F424I	probably benign	Het
Clcn1	A	T	6: 42,287,074 (GRCm39)	E710D	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dnajc13	A	G	9: 104,034,091 (GRCm39)	S2188P	probably damaging	Het
Dyrk1b	C	A	7: 27,884,781 (GRCm39)	Q399K	probably benign	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgr1	T	C	3: 96,193,145 (GRCm39)	E284G	possibly damaging	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Fsip2	T	C	2: 82,816,240 (GRCm39)	I3991T	probably benign	Het
Galnt15	A	T	14: 31,770,042 (GRCm39)	H249L	probably damaging	Het
Gm10803	T	A	2: 93,394,415 (GRCm39)	Y62*	probably null	Het
Gm20730	G	A	6: 43,058,449 (GRCm39)		probably null	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gmpr2	A	G	14: 55,910,203 (GRCm39)	D11G	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hyal4	A	T	6: 24,756,193 (GRCm39)	N137I	probably benign	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Ldb3	G	A	14: 34,266,002 (GRCm39)	T531I	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Lrp2	T	C	2: 69,299,983 (GRCm39)	Y3023C	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Lrriq1	A	T	10: 103,057,150 (GRCm39)	C217S	possibly damaging	Het
Mmrn2	A	T	14: 34,119,991 (GRCm39)	Q287L	probably damaging	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,437,841 (GRCm39)	M36I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6n2	A	G	1: 173,896,893 (GRCm39)	T10A	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde11a	C	T	2: 75,877,118 (GRCm39)		probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Polrmt	T	C	10: 79,577,832 (GRCm39)	T287A	probably benign	Het
Ppfia2	A	G	10: 106,732,281 (GRCm39)	I943V	possibly damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Scn9a	T	C	2: 66,398,475 (GRCm39)	E45G	probably damaging	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Shc1	T	C	3: 89,331,020 (GRCm39)	L106P	probably damaging	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slc28a3	C	A	13: 58,711,866 (GRCm39)	G487*	probably null	Het
Slc49a4	ACC	AC	16: 35,539,730 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Spta1	A	G	1: 174,046,017 (GRCm39)	T1594A	probably damaging	Het
Srarp	G	A	4: 141,160,690 (GRCm39)	Q48*	probably null	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Trpc6	A	T	9: 8,610,276 (GRCm39)	H248L	probably damaging	Het
Trpc6	A	G	9: 8,643,537 (GRCm39)	K441E	probably damaging	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Vmn1r63	A	G	7: 5,806,335 (GRCm39)	V99A	probably benign	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfhx2	C	A	14: 55,303,436 (GRCm39)	S1516I	possibly damaging	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably 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
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
R3911:Sh3d19	UTSW	3	86,014,534 (GRCm39)	missense	possibly damaging	0.62
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

Posted On

2013-08-08