Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Sh2d3c'

429389

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

042945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32635914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 94 (D94G)

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: D246G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: D246G

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: D94G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
AA Change: D94G

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

Meta Mutation Damage Score

0.8055

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nap1l4	A	C	7: 143,088,035 (GRCm39)	S174R	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	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
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'- TCCTAAGCATTAGATGTCTGATGTC -3'
(R):5'- ATGATAGCCCCGCTCTGTTC -3'

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

Posted On

2016-09-06