Mutagenetix > Incidental Mutation

Incidental Mutation 'R4842:Sh3d19'

371894

Institutional Source

Beutler Lab

Gene Symbol

Sh3d19

Ensembl Gene

ENSMUSG00000028082

Gene Name

SH3 domain protein D19

Synonyms

Kryn

MMRRC Submission

042455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4842 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85878416-86037833 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86031049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 738 (Y738H)

Ref Sequence

ENSEMBL: ENSMUSP00000138320 (fasta)

Gene Model

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

AlphaFold

Q91X43

Predicted Effect

probably damaging
Transcript: ENSMUST00000107664
AA Change: Y738H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: Y738H

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 damaging
Transcript: ENSMUST00000182666
AA Change: Y738H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: Y738H

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

0.3083

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

95% (107/113)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,749,153 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamtsl3	C	T	7: 82,178,069 (GRCm39)	R511C	probably damaging	Het
Arhgap11a	T	C	2: 113,670,107 (GRCm39)	S339G	probably damaging	Het
C2cd3	A	G	7: 100,065,397 (GRCm39)	T728A	probably benign	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Catspere1	A	T	1: 177,699,624 (GRCm39)		noncoding transcript	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cdc16	A	G	8: 13,831,644 (GRCm39)		probably benign	Het
Ces1g	C	T	8: 94,060,323 (GRCm39)	E99K	probably benign	Het
Chrna7	A	C	7: 62,862,196 (GRCm39)	L10R	probably benign	Het
Clnk	C	T	5: 38,870,412 (GRCm39)		probably null	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dennd2a	T	C	6: 39,474,044 (GRCm39)	D430G	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Eif2b1	A	G	5: 124,714,971 (GRCm39)	S102P	probably damaging	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fat3	A	C	9: 15,908,883 (GRCm39)	V2373G	probably damaging	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gadd45a	A	T	6: 67,013,873 (GRCm39)	L58Q	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gldc	T	A	19: 30,111,132 (GRCm39)	N548I	possibly damaging	Het
Gm13035	A	G	4: 146,009,993 (GRCm39)		noncoding transcript	Het
Gm27013	T	A	6: 130,497,700 (GRCm39)		noncoding transcript	Het
Gm5436	A	T	12: 84,305,584 (GRCm39)		noncoding transcript	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
H2bc13	C	T	13: 21,900,234 (GRCm39)		probably benign	Het
Hfm1	C	A	5: 107,040,617 (GRCm39)	W716L	probably damaging	Het
Il5ra	T	C	6: 106,715,336 (GRCm39)	Y166C	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kcnv2	A	G	19: 27,301,190 (GRCm39)	D347G	probably damaging	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Lamb1	C	T	12: 31,337,432 (GRCm39)	H388Y	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lmbr1	G	A	5: 29,492,424 (GRCm39)	T55I	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrp2	A	T	2: 69,299,755 (GRCm39)	V3099E	probably benign	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Map1a	T	A	2: 121,132,567 (GRCm39)	S890T	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myh7b	C	A	2: 155,475,909 (GRCm39)	L1935M	probably benign	Het
Myh9	T	C	15: 77,653,453 (GRCm39)	E1348G	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nr1h3	A	G	2: 91,020,563 (GRCm39)	F257L	probably benign	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or52d3	A	T	7: 104,229,422 (GRCm39)	I190L	probably benign	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Pde1a	T	A	2: 79,959,181 (GRCm39)		probably benign	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pnkp	C	A	7: 44,511,070 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Ptk6	T	G	2: 180,838,784 (GRCm39)	N323T	possibly damaging	Het
Rhox3c	G	A	X: 36,652,077 (GRCm39)	A60T	probably damaging	Het
Rnf4	T	A	5: 34,506,053 (GRCm39)	V61E	probably damaging	Het
Rnf5	A	G	17: 34,820,977 (GRCm39)		probably benign	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sema5a	C	T	15: 32,609,563 (GRCm39)	H490Y	probably benign	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stag3	T	G	5: 138,307,627 (GRCm39)		probably null	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tas2r116	G	A	6: 132,832,660 (GRCm39)	S87N	probably benign	Het
Tomm6	T	C	17: 47,998,994 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,966,915 (GRCm39)	M113T	probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vma21-ps	T	A	4: 52,496,943 (GRCm39)	D101V	probably damaging	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	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
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
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
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'- GCAGCTAACTTTGACTAACACATAGAC -3'
(R):5'- CCCCTAGGTTCCTAAAGGACAG -3'

Sequencing Primer
(F):5'- AGGTGAACATCCTTTATCTTTTTGC -3'
(R):5'- CTCACTAGAAGCTCAAGGTA -3'

Posted On

2016-03-01