Mutagenetix > Incidental Mutation

Incidental Mutation 'R9133:Sh2d3c'

693755

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

068930-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9133 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32634778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 186 (Y186H)

Ref Sequence

ENSEMBL: ENSMUSP00000073866 (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

possibly damaging
Transcript: ENSMUST00000074248
AA Change: Y186H

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: Y186H

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: ENSMUST00000113242
AA Change: Y34H

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: Y34H

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: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	T	A	17: 13,159,176 (GRCm39)	R4S	probably benign	Het
Adamdec1	A	T	14: 68,814,547 (GRCm39)	C143*	probably null	Het
Adck5	A	G	15: 76,460,612 (GRCm39)		probably benign	Het
Aebp2	A	G	6: 140,579,441 (GRCm39)	D226G	probably damaging	Het
Ascc3	A	G	10: 50,630,175 (GRCm39)	I1755V	possibly damaging	Het
Aspm	C	T	1: 139,419,266 (GRCm39)	T2977M	probably damaging	Het
Cacna1a	A	G	8: 85,276,152 (GRCm39)	S582G	probably damaging	Het
Card14	T	C	11: 119,231,835 (GRCm39)	F801S	probably damaging	Het
Casp16	T	A	17: 23,771,003 (GRCm39)	D134V	probably damaging	Het
Cmya5	A	G	13: 93,234,108 (GRCm39)	S327P	possibly damaging	Het
Cutc	A	T	19: 43,755,727 (GRCm39)	D229V	possibly damaging	Het
Cyp21a1	C	A	17: 35,023,419 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,859,423 (GRCm39)	K2130R	probably damaging	Het
Dsc1	C	T	18: 20,234,904 (GRCm39)	S250N	probably benign	Het
Edc4	T	C	8: 106,611,778 (GRCm39)		probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehmt1	A	T	2: 24,729,635 (GRCm39)	I642K	possibly damaging	Het
Gjd2	T	C	2: 113,842,039 (GRCm39)	Q146R	probably benign	Het
Gm26661	A	G	14: 7,791,936 (GRCm38)	H117R	unknown	Het
H2-Oa	T	A	17: 34,313,505 (GRCm39)	D185E	probably damaging	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hyal6	A	G	6: 24,734,585 (GRCm39)	R173G	possibly damaging	Het
Ica1	A	T	6: 8,659,921 (GRCm39)	V125D	probably benign	Het
Ift172	T	C	5: 31,442,867 (GRCm39)	T140A	probably benign	Het
Ighv9-4	T	A	12: 114,263,883 (GRCm39)	I17F	probably benign	Het
Igkv4-92	G	T	6: 68,732,248 (GRCm39)	T42N	probably damaging	Het
Kctd16	C	A	18: 40,392,069 (GRCm39)	P219Q	probably damaging	Het
Kdm5b	A	T	1: 134,530,323 (GRCm39)	I445F	probably benign	Het
Ksr2	A	G	5: 117,841,319 (GRCm39)	T598A	probably benign	Het
Lrrn1	C	T	6: 107,544,568 (GRCm39)	T122I	probably damaging	Het
Mars2	A	G	1: 55,276,721 (GRCm39)	D108G	possibly damaging	Het
Ms4a14	A	G	19: 11,281,038 (GRCm39)	W507R		Het
Ncoa3	A	G	2: 165,910,381 (GRCm39)	T1266A	possibly damaging	Het
Neb	T	C	2: 52,083,256 (GRCm39)	K5650E	possibly damaging	Het
Nlrp4f	T	A	13: 65,332,883 (GRCm39)	K92*	probably null	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Nova1	G	T	12: 46,865,524 (GRCm39)	A4E	unknown	Het
Nphs1	G	T	7: 30,160,092 (GRCm39)	E124*	probably null	Het
Or10d4	T	A	9: 39,580,974 (GRCm39)	I207N	possibly damaging	Het
Or10d4b	T	A	9: 39,534,809 (GRCm39)	L128*	probably null	Het
Or5d14	T	C	2: 87,880,782 (GRCm39)	Y62C	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,313,050 (GRCm39)	S1257P	probably damaging	Het
Ranbp3	T	C	17: 57,003,791 (GRCm39)		probably null	Het
Rasgrf1	A	G	9: 89,793,600 (GRCm39)	T126A	probably benign	Het
Rexo5	T	G	7: 119,444,667 (GRCm39)	L714R	probably damaging	Het
Rhobtb3	A	G	13: 76,020,512 (GRCm39)	Y597H	probably damaging	Het
Riox1	C	G	12: 83,998,221 (GRCm39)	Y252*	probably null	Het
Slc16a7	T	A	10: 125,066,536 (GRCm39)	T368S	probably benign	Het
Slc25a26	G	A	6: 94,511,143 (GRCm39)	V107I		Het
Slc4a5	A	T	6: 83,203,217 (GRCm39)	Y39F	possibly damaging	Het
Smarcad1	A	G	6: 65,049,035 (GRCm39)	K254E	probably damaging	Het
Sspo	G	T	6: 48,434,747 (GRCm39)	V1080L	possibly damaging	Het
Thsd7b	A	T	1: 129,843,382 (GRCm39)	T865S	probably benign	Het
Top1	C	T	2: 160,545,591 (GRCm39)	Q320*	probably null	Het
Trank1	T	A	9: 111,220,770 (GRCm39)	N2502K	possibly damaging	Het
Urad	T	C	5: 147,252,251 (GRCm39)	H67R	probably damaging	Het
Vamp5	A	C	6: 72,357,362 (GRCm39)		probably null	Het
Vmn1r62	A	G	7: 5,679,062 (GRCm39)	I248V	probably benign	Het
Wwc2	G	T	8: 48,305,007 (GRCm39)	Q873K	unknown	Het
Zcchc2	C	A	1: 105,958,535 (GRCm39)	S1002Y	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp788	A	G	7: 41,299,484 (GRCm39)	N707D		Het
Zfp964	A	G	8: 70,115,783 (GRCm39)	T128A	probably benign	Het
Zkscan16	T	C	4: 58,957,722 (GRCm39)	L668S	possibly 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
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
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'- ACTCTAGCTGGGATGAGGAC -3'
(R):5'- GTCTCTCTATGCAGAACATGACTG -3'

Sequencing Primer
(F):5'- CCCACAGGTGAGGACCATC -3'
(R):5'- CAGAACATGACTGCCTTTTGAGG -3'

Posted On

2022-01-20