Mutagenetix > Incidental Mutation

Incidental Mutation 'R8553:Sh2d3c'

659950

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8553 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32635925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 98 (T98A)

Ref Sequence

ENSEMBL: ENSMUSP00000108868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009695] [ENSMUST00000074248] [ENSMUST00000113242]

AlphaFold

Q9QZS8

Predicted Effect

probably benign
Transcript: ENSMUST00000009695

SMART Domains

Protein: ENSMUSP00000009695
Gene: ENSMUSG00000009551

Domain	Start	End	E-Value	Type
low complexity region	73	86	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000074248
AA Change: T250A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: T250A

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: T98A

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

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: T98A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	G	4: 123,754,327 (GRCm39)	I80M	probably benign	Het
Acsbg3	T	A	17: 57,188,021 (GRCm39)	D176E	probably benign	Het
Aga	G	A	8: 53,973,367 (GRCm39)	R255H	probably damaging	Het
Anapc1	G	A	2: 128,461,833 (GRCm39)	P1757L	possibly damaging	Het
Arfgef3	T	A	10: 18,479,278 (GRCm39)	I1446L	probably damaging	Het
Auts2	T	C	5: 131,468,981 (GRCm39)	T779A	probably benign	Het
Cacna1s	T	C	1: 136,019,540 (GRCm39)	S778P	possibly damaging	Het
Cep164	A	T	9: 45,718,508 (GRCm39)		probably benign	Het
Cmya5	T	C	13: 93,230,304 (GRCm39)	T1595A	probably benign	Het
Csmd3	G	T	15: 47,484,724 (GRCm39)	T3214K	possibly damaging	Het
Dpy30	A	G	17: 74,622,913 (GRCm39)	L23P	probably damaging	Het
Edrf1	A	G	7: 133,252,047 (GRCm39)	E391G	possibly damaging	Het
Egflam	A	T	15: 7,237,229 (GRCm39)	V985E	probably damaging	Het
Elmo3	T	C	8: 106,033,810 (GRCm39)	V201A	probably benign	Het
Entrep3	A	C	3: 89,094,153 (GRCm39)	D322A	possibly damaging	Het
Epb41l5	T	A	1: 119,477,671 (GRCm39)	D700V	possibly damaging	Het
Esr1	T	C	10: 4,947,847 (GRCm39)	S467P	probably damaging	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Fancm	A	C	12: 65,173,469 (GRCm39)	N1927T	possibly damaging	Het
Gcfc2	A	G	6: 81,912,944 (GRCm39)	T248A	probably benign	Het
Gm29106	T	A	1: 118,128,149 (GRCm39)	C614S	probably damaging	Het
Greb1	T	C	12: 16,773,328 (GRCm39)	T249A	probably benign	Het
Hectd4	T	C	5: 121,491,661 (GRCm39)	S3700P	possibly damaging	Het
Hr	T	C	14: 70,804,965 (GRCm39)	L950P	probably damaging	Het
Hsd3b3	T	A	3: 98,651,205 (GRCm39)	T82S	possibly damaging	Het
Ifit2	C	A	19: 34,550,538 (GRCm39)	A26E	probably benign	Het
Igsf9b	A	G	9: 27,244,739 (GRCm39)	D902G	probably damaging	Het
Itga4	G	A	2: 79,131,405 (GRCm39)	R591Q	probably damaging	Het
Kcnb1	A	T	2: 166,946,531 (GRCm39)	S772R	possibly damaging	Het
Klhl32	T	A	4: 24,629,343 (GRCm39)	I213L	probably benign	Het
Lcn3	A	T	2: 25,656,347 (GRCm39)		probably null	Het
Lpin2	T	A	17: 71,538,232 (GRCm39)	S293T	probably damaging	Het
Magi2	T	C	5: 20,856,198 (GRCm39)	F840S	probably benign	Het
Myt1	G	A	2: 181,439,344 (GRCm39)	E289K	possibly damaging	Het
Ndst4	A	G	3: 125,503,756 (GRCm39)	S8G	probably damaging	Het
Nlrp4f	T	C	13: 65,343,252 (GRCm39)	D109G	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Pcdhb12	C	T	18: 37,570,687 (GRCm39)	A611V	probably damaging	Het
Pcif1	A	T	2: 164,728,417 (GRCm39)	I225F	probably damaging	Het
Peli3	A	G	19: 4,984,960 (GRCm39)	F150L	probably damaging	Het
Qng1	G	A	13: 58,532,694 (GRCm39)	T92M	probably damaging	Het
Rfx7	A	G	9: 72,519,086 (GRCm39)	T263A	probably damaging	Het
Rpn1	A	G	6: 88,072,539 (GRCm39)	Y294C	probably damaging	Het
Rusc2	T	A	4: 43,416,508 (GRCm39)	S605T	probably benign	Het
Sec23ip	A	C	7: 128,355,777 (GRCm39)	Q300P	probably damaging	Het
Siah3	T	A	14: 75,763,067 (GRCm39)	I106K	probably benign	Het
Spns2	C	T	11: 72,348,053 (GRCm39)	D305N	probably damaging	Het
Sult1a1	G	T	7: 126,273,333 (GRCm39)	Q177K	probably benign	Het
Tas2r109	A	G	6: 132,957,171 (GRCm39)	I253T	probably benign	Het
Tcof1	T	C	18: 60,964,643 (GRCm39)	D661G	possibly damaging	Het
Tdrd1	A	G	19: 56,831,584 (GRCm39)	N325S	probably damaging	Het
Tfcp2l1	C	A	1: 118,560,082 (GRCm39)	A58E	probably damaging	Het
Wdcp	T	C	12: 4,902,024 (GRCm39)		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
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
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
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'- CGGTCCTAAGCATTAGATGTCTG -3'
(R):5'- TAGATGATAGCCCCGCTCTGTTC -3'

Sequencing Primer
(F):5'- GTCCTAAGCATTAGATGTCTGATGTC -3'
(R):5'- TGTTCGGACACGGCCTTAC -3'

Posted On

2021-01-18