Mutagenetix > Incidental Mutation

Incidental Mutation 'R7047:Sh2d3c'

547355

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

045145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32611072-32645008 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 32611172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000073866 (fasta)

Gene Model

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

AlphaFold

Q9QZS8

Predicted Effect

probably null
Transcript: ENSMUST00000074248
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
AA Change: M1T

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

Meta Mutation Damage Score

0.9657

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (53/54)

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
3425401B19Rik	A	T	14: 32,382,131 (GRCm39)	I1278N	possibly damaging	Het
Adcy5	T	A	16: 35,087,585 (GRCm39)	L482Q	probably damaging	Het
Adora2a	A	G	10: 75,162,145 (GRCm39)	I95V	probably damaging	Het
Anapc1	A	C	2: 128,457,350 (GRCm39)	C1887G	probably damaging	Het
Arfgef2	T	A	2: 166,693,865 (GRCm39)		probably null	Het
Capn11	G	T	17: 45,949,622 (GRCm39)	S448*	probably null	Het
Capn7	C	T	14: 31,058,642 (GRCm39)		probably benign	Het
Cep55	T	A	19: 38,048,539 (GRCm39)	V65D	possibly damaging	Het
Col5a1	A	G	2: 27,818,096 (GRCm39)	K107R	unknown	Het
Dbh	T	A	2: 27,055,622 (GRCm39)	I32N	possibly damaging	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dzip3	A	T	16: 48,802,489 (GRCm39)	N13K	probably benign	Het
Emilin1	A	G	5: 31,074,422 (GRCm39)	N221S	probably benign	Het
Ext2	A	G	2: 93,570,002 (GRCm39)	F470L	probably damaging	Het
Filip1	T	A	9: 79,760,916 (GRCm39)	Q206L	probably damaging	Het
Garin1b	T	A	6: 29,323,809 (GRCm39)	L178H	probably damaging	Het
Gpr63	G	T	4: 25,007,320 (GRCm39)	A15S	probably benign	Het
Grhl3	T	C	4: 135,276,551 (GRCm39)		probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Ift172	G	T	5: 31,433,238 (GRCm39)	Y193*	probably null	Het
Ints1	A	C	5: 139,744,226 (GRCm39)	L1512*	probably null	Het
Kat2b	A	G	17: 53,970,597 (GRCm39)	Q661R	probably benign	Het
Kat6a	A	G	8: 23,428,554 (GRCm39)	N1303S	possibly damaging	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Maml2	T	C	9: 13,532,177 (GRCm39)		probably benign	Het
Mixl1	A	G	1: 180,524,183 (GRCm39)		probably null	Het
Mocs1	T	C	17: 49,759,887 (GRCm39)		probably null	Het
Ms4a15	T	G	19: 10,962,236 (GRCm39)	N36T	probably damaging	Het
Msr1	G	A	8: 40,095,657 (GRCm39)	T2I	possibly damaging	Het
Nlgn1	A	C	3: 25,490,199 (GRCm39)	Y509*	probably null	Het
Nsmce1	C	A	7: 125,090,606 (GRCm39)	G4C	probably benign	Het
Or4c113	A	T	2: 88,885,490 (GRCm39)	F93L	probably damaging	Het
Or51v15-ps1	A	G	7: 103,278,918 (GRCm39)	V83A	probably damaging	Het
Pan3	G	A	5: 147,483,175 (GRCm39)	G452D	probably damaging	Het
Pcyox1	G	T	6: 86,365,891 (GRCm39)	P441H	probably damaging	Het
Phf12	T	C	11: 77,904,099 (GRCm39)	V273A	probably damaging	Het
Plcd4	A	G	1: 74,591,148 (GRCm39)	E181G	possibly damaging	Het
Ptgfr	A	T	3: 151,541,178 (GRCm39)	I110N	possibly damaging	Het
Rab40c	A	C	17: 26,138,458 (GRCm39)	V8G	probably damaging	Het
Rasal3	T	A	17: 32,615,458 (GRCm39)	Y460F	probably damaging	Het
Rhbdf2	A	G	11: 116,494,477 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,839,286 (GRCm39)	N496Y	possibly damaging	Het
Sacs	A	T	14: 61,450,451 (GRCm39)	I4166F	probably damaging	Het
Smarca2	C	T	19: 26,646,555 (GRCm39)	S651L	possibly damaging	Het
Sned1	A	T	1: 93,213,540 (GRCm39)	R1204S	possibly damaging	Het
Spata31d1b	T	C	13: 59,860,249 (GRCm39)	Y41H	probably damaging	Het
Stab2	C	T	10: 86,694,016 (GRCm39)	C2075Y	probably damaging	Het
Tcte1	A	T	17: 45,844,294 (GRCm39)	Q90L	possibly damaging	Het
Tll2	C	T	19: 41,074,679 (GRCm39)	G945S	probably damaging	Het
Tmbim7	A	T	5: 3,720,112 (GRCm39)	T116S	probably benign	Het
Tnfrsf19	A	T	14: 61,242,667 (GRCm39)	C72*	probably null	Het
Usp17le	T	A	7: 104,417,640 (GRCm39)	T501S	probably benign	Het
Wnt5b	T	A	6: 119,425,217 (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
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'- CCTTCTAGGTCCCAAGGGTTTG -3'
(R):5'- CCACAGCATGTGCAGATAGC -3'

Sequencing Primer
(F):5'- CCCAAGGGTTTGCGGTG -3'
(R):5'- GATAGCAACACCAACACCGAGG -3'

Posted On

2019-05-13