Mutagenetix > Incidental Mutation

Incidental Mutation 'R3808:Sh2d3c'

275017

Institutional Source

Beutler Lab

Gene Symbol

Sh2d3c

Ensembl Gene

ENSMUSG00000059013

Gene Name

SH2 domain containing 3C

Synonyms

Cas/HEF1-associated signal transducer, Nsp3, Shep1, Chat, SH2-containing Eph receptor-binding protein 1

MMRRC Submission

040765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3808 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32636108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 159 (Y159H)

Ref Sequence

ENSEMBL: ENSMUSP00000108868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074248] [ENSMUST00000113242]

AlphaFold

Q9QZS8

Predicted Effect

probably benign
Transcript: ENSMUST00000074248
AA Change: Y311H

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: Y311H

Domain	Start	End	E-Value	Type
low complexity region	11	18	N/A	INTRINSIC
low complexity region	22	43	N/A	INTRINSIC
low complexity region	86	98	N/A	INTRINSIC
low complexity region	117	132	N/A	INTRINSIC
low complexity region	190	207	N/A	INTRINSIC
SH2	213	301	7.8e-21	SMART
low complexity region	333	348	N/A	INTRINSIC
low complexity region	400	415	N/A	INTRINSIC
low complexity region	422	436	N/A	INTRINSIC
low complexity region	474	487	N/A	INTRINSIC
RasGEF	576	849	8.18e-10	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113242
AA Change: Y159H

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

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: Y159H

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC
SH2	61	149	7.8e-21	SMART
low complexity region	181	196	N/A	INTRINSIC
low complexity region	248	263	N/A	INTRINSIC
low complexity region	270	284	N/A	INTRINSIC
low complexity region	322	335	N/A	INTRINSIC
RasGEF	424	697	8.18e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131101

SMART Domains

Protein: ENSMUSP00000122613
Gene: ENSMUSG00000059013

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
low complexity region	37	54	N/A	INTRINSIC
SH2	60	148	7.8e-21	SMART
low complexity region	180	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141670

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with absence of gastric milk. Surviving mice exhibit abnormal olfactory bulb innervation, fewer gonadotrophin positive cells in the hypothalamus, and decreased testes size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aldh3a2	G	T	11: 61,149,623 (GRCm39)	L248M	probably damaging	Het
Als2	A	G	1: 59,209,609 (GRCm39)	S1458P	probably benign	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Arhgap5	A	G	12: 52,613,970 (GRCm39)	E192G	possibly damaging	Het
Atg2a	A	G	19: 6,302,846 (GRCm39)	K1019R	possibly damaging	Het
Atp2b1	A	G	10: 98,839,010 (GRCm39)	K613E	possibly damaging	Het
Carm1	T	C	9: 21,498,258 (GRCm39)	C421R	probably damaging	Het
Cdh17	A	T	4: 11,795,671 (GRCm39)	Y417F	probably damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Clptm1l	A	C	13: 73,760,573 (GRCm39)	M319L	probably benign	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Creb3l2	A	G	6: 37,332,625 (GRCm39)	S290P	probably damaging	Het
Dock4	T	G	12: 40,722,809 (GRCm39)	V305G	probably damaging	Het
Dtl	A	C	1: 191,280,466 (GRCm39)	L356R	probably damaging	Het
Eftud2	A	T	11: 102,732,289 (GRCm39)		probably null	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Fat4	T	G	3: 39,036,587 (GRCm39)	V3413G	possibly damaging	Het
Fgfr2	T	C	7: 129,801,578 (GRCm39)	M218V	probably benign	Het
Grin2b	A	G	6: 135,900,269 (GRCm39)	L204P	probably damaging	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Lrp4	T	A	2: 91,307,047 (GRCm39)	D389E	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,625,269 (GRCm39)	N2274S	probably benign	Het
Nr3c2	G	A	8: 77,635,343 (GRCm39)	G148D	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Plin3	C	A	17: 56,593,275 (GRCm39)	A96S	probably damaging	Het
Pnck	T	A	X: 72,700,550 (GRCm39)	I288F	probably damaging	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Prss43	A	T	9: 110,656,840 (GRCm39)	R115S	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rdh16f1	T	A	10: 127,624,568 (GRCm39)	D135E	probably benign	Het
Rdh16f1	G	A	10: 127,624,569 (GRCm39)	V136M	probably damaging	Het
Rgs12	A	G	5: 35,189,698 (GRCm39)	E702G	probably damaging	Het
Rnf213	A	G	11: 119,370,384 (GRCm39)	K4728E	probably damaging	Het
Ros1	T	G	10: 51,996,944 (GRCm39)	T1243P	probably benign	Het
Sall1	G	A	8: 89,758,101 (GRCm39)	Q668*	probably null	Het
Sbf2	C	A	7: 110,088,487 (GRCm39)	*45L	probably null	Het
Serpina3j	A	T	12: 104,286,086 (GRCm39)	I414F	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc22a13	T	C	9: 119,025,143 (GRCm39)	T178A	probably benign	Het
Smchd1	A	T	17: 71,736,536 (GRCm39)	L588H	probably damaging	Het
Trim12a	G	A	7: 103,956,201 (GRCm39)	A113V	probably benign	Het
Vil1	T	C	1: 74,466,772 (GRCm39)	V654A	probably benign	Het
Vmn1r202	T	C	13: 22,686,070 (GRCm39)	T116A	possibly damaging	Het
Zfp267	T	G	3: 36,219,792 (GRCm39)		probably null	Het
Zfp607a	G	A	7: 27,578,826 (GRCm39)	R632H	probably benign	Het

Other mutations in Sh2d3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Sh2d3c	APN	2	32,615,096 (GRCm39)	missense	probably benign	0.00
IGL02326:Sh2d3c	APN	2	32,639,163 (GRCm39)	critical splice acceptor site	probably null
IGL03325:Sh2d3c	APN	2	32,615,270 (GRCm39)	missense	probably benign	0.00
R0008:Sh2d3c	UTSW	2	32,643,033 (GRCm39)	missense	probably damaging	1.00
R0564:Sh2d3c	UTSW	2	32,643,064 (GRCm39)	missense	probably damaging	0.99
R0619:Sh2d3c	UTSW	2	32,643,037 (GRCm39)	missense	probably damaging	1.00
R1138:Sh2d3c	UTSW	2	32,639,417 (GRCm39)	missense	probably benign	0.00
R1984:Sh2d3c	UTSW	2	32,639,256 (GRCm39)	nonsense	probably null
R4399:Sh2d3c	UTSW	2	32,636,172 (GRCm39)	missense	probably damaging	0.97
R4556:Sh2d3c	UTSW	2	32,643,021 (GRCm39)	missense	possibly damaging	0.81
R4840:Sh2d3c	UTSW	2	32,611,172 (GRCm39)	start codon destroyed	probably null	0.02
R5027:Sh2d3c	UTSW	2	32,634,814 (GRCm39)	missense	possibly damaging	0.95
R5367:Sh2d3c	UTSW	2	32,635,914 (GRCm39)	missense	probably damaging	1.00
R6754:Sh2d3c	UTSW	2	32,644,542 (GRCm39)	missense	probably damaging	1.00
R6916:Sh2d3c	UTSW	2	32,642,665 (GRCm39)	nonsense	probably null
R7029:Sh2d3c	UTSW	2	32,644,581 (GRCm39)	makesense	probably null
R7047:Sh2d3c	UTSW	2	32,611,172 (GRCm39)	start codon destroyed	probably null	0.02
R7636:Sh2d3c	UTSW	2	32,615,023 (GRCm39)	missense	probably benign	0.17
R7893:Sh2d3c	UTSW	2	32,639,388 (GRCm39)	nonsense	probably null
R8072:Sh2d3c	UTSW	2	32,643,150 (GRCm39)	missense	probably damaging	1.00
R8115:Sh2d3c	UTSW	2	32,615,276 (GRCm39)	missense	probably benign	0.12
R8447:Sh2d3c	UTSW	2	32,642,671 (GRCm39)	missense	probably damaging	1.00
R8553:Sh2d3c	UTSW	2	32,635,925 (GRCm39)	missense	probably damaging	1.00
R9133:Sh2d3c	UTSW	2	32,634,778 (GRCm39)	missense	possibly damaging	0.46
R9475:Sh2d3c	UTSW	2	32,643,039 (GRCm39)	missense	probably damaging	1.00
R9710:Sh2d3c	UTSW	2	32,635,889 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAATCAGGCCTTGCACTTC -3'
(R):5'- TTCATTAACAAGCCAGAGGGAAGTG -3'

Sequencing Primer
(F):5'- TTGCACTTCAAGATCAACAAGGTGG -3'
(R):5'- AAGTGGGGATCTGGCTGACC -3'

Posted On

2015-04-02