Mutagenetix > Incidental Mutation

Incidental Mutation 'R6916:Sh2d3c'

539322

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

045037-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6916 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 32642665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 552 (R552*)

Ref Sequence

ENSEMBL: ENSMUSP00000108868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009707] [ENSMUST00000074248] [ENSMUST00000091059] [ENSMUST00000113242] [ENSMUST00000156617] [ENSMUST00000175763] [ENSMUST00000177382]

AlphaFold

Q9QZS8

Predicted Effect

probably benign
Transcript: ENSMUST00000009707

SMART Domains

Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	160	1.2e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000074248
AA Change: R704*

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: R704*

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 benign
Transcript: ENSMUST00000091059

SMART Domains

Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

Domain	Start	End	E-Value	Type
TPR	75	108	2.26e-3	SMART
TPR	109	142	4.09e-1	SMART
TPR	150	183	8.3e-2	SMART
TPR	218	251	4.44e1	SMART
TPR	265	298	3.69e1	SMART
TPR	299	332	1.08e1	SMART
Blast:TPR	345	378	2e-10	BLAST
TPR	379	412	1.02e-1	SMART
TPR	420	453	7.27e0	SMART
Blast:TPR	454	487	2e-12	BLAST
low complexity region	631	644	N/A	INTRINSIC
low complexity region	666	679	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113242
AA Change: R552*

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: R552*

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

probably benign
Transcript: ENSMUST00000140999

Predicted Effect

probably benign
Transcript: ENSMUST00000156617

SMART Domains

Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175763

SMART Domains

Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177382

SMART Domains

Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:Torsin	35	101	1.4e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,211,318 (GRCm39)	I684K	possibly damaging	Het
Abcg3	T	A	5: 105,122,601 (GRCm39)	R97S	probably benign	Het
Acin1	A	T	14: 54,902,873 (GRCm39)	F160L	probably benign	Het
Aoc1l2	T	A	6: 48,907,987 (GRCm39)	I329N	probably benign	Het
Asb10	T	C	5: 24,742,854 (GRCm39)	D293G	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,825 (GRCm39)	S117P	probably benign	Het
Bahcc1	T	A	11: 120,163,835 (GRCm39)	V711E	probably damaging	Het
Baz2b	A	T	2: 59,799,120 (GRCm39)	S335T	probably benign	Het
Bdkrb2	C	T	12: 105,558,038 (GRCm39)	A93V	probably damaging	Het
Cacna1d	A	T	14: 29,817,321 (GRCm39)	V1247D	probably damaging	Het
Cenpb	A	C	2: 131,021,544 (GRCm39)	F85V	probably benign	Het
Cep112	C	A	11: 108,750,202 (GRCm39)	Q142K	probably damaging	Het
Ciita	T	A	16: 10,327,071 (GRCm39)		probably null	Het
Cnr1	A	G	4: 33,943,897 (GRCm39)	D95G	probably benign	Het
Ctnnd1	A	T	2: 84,439,990 (GRCm39)	D767E	probably benign	Het
Ddx20	T	C	3: 105,587,929 (GRCm39)	N384D	probably damaging	Het
Dnaaf3	T	A	7: 4,530,532 (GRCm39)	D191V	probably damaging	Het
Efna1	T	C	3: 89,183,695 (GRCm39)	N44D	possibly damaging	Het
Errfi1	A	T	4: 150,951,930 (GRCm39)	K453*	probably null	Het
Fam149a	C	A	8: 45,803,443 (GRCm39)	K349N	probably damaging	Het
Fbxl20	T	A	11: 98,004,079 (GRCm39)	I70L	possibly damaging	Het
Flnb	C	T	14: 7,907,171 (GRCm38)	T1248I	probably damaging	Het
Frem2	T	C	3: 53,455,109 (GRCm39)	R2156G	probably damaging	Het
Ftl1	T	C	7: 45,108,964 (GRCm39)	Y31C	probably damaging	Het
Gm5862	G	T	5: 26,224,346 (GRCm39)	H208N	probably benign	Het
Hc	A	T	2: 34,900,044 (GRCm39)	Y1096*	probably null	Het
Hps1	ATCCTCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	19: 42,755,164 (GRCm39)			Het
Ints3	T	C	3: 90,313,641 (GRCm39)	D329G	probably damaging	Het
Irak3	A	T	10: 120,037,270 (GRCm39)	L32Q	probably damaging	Het
Kifbp	T	C	10: 62,401,843 (GRCm39)	T20A	probably benign	Het
Klrb1f	A	T	6: 129,030,774 (GRCm39)	D95V	probably benign	Het
Krt79	C	T	15: 101,844,605 (GRCm39)	D260N	probably benign	Het
Lrp11	C	A	10: 7,484,478 (GRCm39)		probably null	Het
Lrrc10	C	A	10: 116,881,454 (GRCm39)	R43S	possibly damaging	Het
Muc5b	A	T	7: 141,418,454 (GRCm39)	Y3800F	possibly damaging	Het
Myh14	T	C	7: 44,278,737 (GRCm39)	K1003E	probably damaging	Het
Nbeal2	A	G	9: 110,455,176 (GRCm39)	I2567T	probably damaging	Het
Necab2	G	T	8: 120,194,355 (GRCm39)	R277L	probably damaging	Het
Nell1	T	C	7: 50,350,927 (GRCm39)	Y525H	probably benign	Het
Olfm4	T	A	14: 80,251,638 (GRCm39)	M186K	probably damaging	Het
Or10d1c	T	C	9: 38,894,200 (GRCm39)	I47V	probably benign	Het
Or1e29	T	A	11: 73,667,895 (GRCm39)	Q86L	probably benign	Het
Or2h2b-ps1	T	C	17: 37,480,864 (GRCm39)	K225R	probably benign	Het
Pcdhb11	A	T	18: 37,555,434 (GRCm39)	S255C	possibly damaging	Het
Rrbp1	A	T	2: 143,816,518 (GRCm39)	C704S	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sh3d19	A	G	3: 85,992,218 (GRCm39)	E82G	probably benign	Het
Son	T	A	16: 91,451,673 (GRCm39)	L140Q	probably damaging	Het
Svil	G	A	18: 5,114,682 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,177,912 (GRCm39)	K4854R	probably benign	Het
Tlcd4	T	C	3: 121,000,805 (GRCm39)	D276G	possibly damaging	Het
Tmem202	C	A	9: 59,432,757 (GRCm39)		probably benign	Het
Trak2	T	C	1: 58,949,184 (GRCm39)	T539A	probably benign	Het
Trdn	T	C	10: 33,033,014 (GRCm39)	S80P	probably damaging	Het
Ugt2b37	T	A	5: 87,402,459 (GRCm39)	R57S	probably benign	Het
Usp34	G	A	11: 23,408,023 (GRCm39)	R2616Q	probably damaging	Het
Usp48	T	C	4: 137,365,544 (GRCm39)	Y113H	probably damaging	Het
Vtcn1	G	T	3: 100,795,479 (GRCm39)		probably null	Het
Wdr19	G	A	5: 65,382,677 (GRCm39)	R467Q	possibly damaging	Het
Wdr72	A	G	9: 74,062,321 (GRCm39)	Y489C	probably benign	Het
Wipf1	C	A	2: 73,267,748 (GRCm39)	G217W	probably damaging	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
R3808:Sh2d3c	UTSW	2	32,636,108 (GRCm39)	missense	probably damaging	1.00
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
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'- CTGACTGACAGCCATACTCAG -3'
(R):5'- GGTAACCCTATCCTGTCCATGAC -3'

Sequencing Primer
(F):5'- AGCCATACTCAGCTGTCATTGTG -3'
(R):5'- TGTCCATGACAGAGCATACCTGG -3'

Posted On

2018-11-06