Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Sh3d19'

657462

Institutional Source

Beutler Lab

Gene Symbol

Sh3d19

Ensembl Gene

ENSMUSG00000028082

Gene Name

SH3 domain protein D19

Synonyms

Kryn

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85971109-86130526 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86084877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 71 (W71G)

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: W71G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103291
Gene: ENSMUSG00000028082
AA Change: W71G

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: W71G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138320
Gene: ENSMUSG00000028082
AA Change: W71G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zfp473	G	T	7: 44,732,899	P670Q	probably damaging	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	Het

Other mutations in Sh3d19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01415:Sh3d19	APN	3	86098185	missense	probably benign	0.01
IGL01483:Sh3d19	APN	3	86114796	missense	probably benign	0.09
IGL02272:Sh3d19	APN	3	86121167	missense	probably benign	0.02
IGL02308:Sh3d19	APN	3	86093710	missense	probably damaging	0.98
IGL02431:Sh3d19	APN	3	86106998	missense	probably damaging	1.00
R0277:Sh3d19	UTSW	3	86126671	missense	probably benign	0.00
R0323:Sh3d19	UTSW	3	86126671	missense	probably benign	0.00
R0624:Sh3d19	UTSW	3	86114906	missense	possibly damaging	0.96
R0639:Sh3d19	UTSW	3	86106973	missense	probably benign	0.00
R0673:Sh3d19	UTSW	3	86106973	missense	probably benign	0.00
R1148:Sh3d19	UTSW	3	86107327	missense	possibly damaging	0.82
R1148:Sh3d19	UTSW	3	86107327	missense	possibly damaging	0.82
R1569:Sh3d19	UTSW	3	86126644	missense	possibly damaging	0.83
R1738:Sh3d19	UTSW	3	86120606	missense	probably damaging	1.00
R3911:Sh3d19	UTSW	3	86107227	missense	possibly damaging	0.62
R3913:Sh3d19	UTSW	3	86084776	missense	probably damaging	0.97
R4246:Sh3d19	UTSW	3	86126688	missense	probably benign	0.06
R4327:Sh3d19	UTSW	3	86123713	missense	probably benign
R4663:Sh3d19	UTSW	3	86123263	missense	probably benign	0.06
R4730:Sh3d19	UTSW	3	86116864	missense	possibly damaging	0.89
R4812:Sh3d19	UTSW	3	86123767	missense	probably damaging	1.00
R4841:Sh3d19	UTSW	3	86123742	missense	probably damaging	1.00
R4842:Sh3d19	UTSW	3	86123742	missense	probably damaging	1.00
R5814:Sh3d19	UTSW	3	86126604	missense	probably benign	0.00
R6279:Sh3d19	UTSW	3	86104102	missense	possibly damaging	0.77
R6504:Sh3d19	UTSW	3	86085336	missense	probably benign
R6806:Sh3d19	UTSW	3	86104333	missense	probably damaging	0.99
R6916:Sh3d19	UTSW	3	86084911	missense	probably benign	0.03
R7012:Sh3d19	UTSW	3	86085013	missense	probably benign	0.01
R7147:Sh3d19	UTSW	3	86104277	missense	possibly damaging	0.71
R7367:Sh3d19	UTSW	3	86104228	missense	probably benign	0.21
R7590:Sh3d19	UTSW	3	86114906	missense	possibly damaging	0.96
R7739:Sh3d19	UTSW	3	86123731	missense	probably benign
R7971:Sh3d19	UTSW	3	86114796	missense	probably benign	0.09
R8321:Sh3d19	UTSW	3	86093764	missense	probably damaging	1.00
R8354:Sh3d19	UTSW	3	86107022	missense	probably benign	0.00
R8415:Sh3d19	UTSW	3	86085056	missense	probably benign	0.01
R8454:Sh3d19	UTSW	3	86107022	missense	probably benign	0.00
R8703:Sh3d19	UTSW	3	86107261	missense	probably damaging	0.99
R8807:Sh3d19	UTSW	3	86085352	missense	probably benign	0.00
R9032:Sh3d19	UTSW	3	86126685	missense	probably damaging	1.00
R9085:Sh3d19	UTSW	3	86126685	missense	probably damaging	1.00
R9171:Sh3d19	UTSW	3	86083611	start gained	probably benign
R9219:Sh3d19	UTSW	3	86123200	missense	possibly damaging	0.94
R9610:Sh3d19	UTSW	3	86107222	missense	possibly damaging	0.94
R9777:Sh3d19	UTSW	3	86121176	missense	probably benign	0.00
X0027:Sh3d19	UTSW	3	86120703	missense	probably damaging	1.00
Z1177:Sh3d19	UTSW	3	86107024	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCAGGCAATGATGAACATTATG -3'
(R):5'- TCGGTGGAATCGAAGGGTAC -3'

Sequencing Primer
(F):5'- CAGGCAATGATGAACATTATGAACAC -3'
(R):5'- TTTTTCGGCAGCAAAGGC -3'

Posted On

2021-01-18