Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02498:Shoc2'

295900

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shoc2

Ensembl Gene

ENSMUSG00000024976

Gene Name

Shoc2, leucine rich repeat scaffold protein

Synonyms

Sur-8, soc-2 (suppressor of clear) homolog (C. elegans)

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02498

Quality Score

Status

Chromosome

Chromosomal Location

53932737-54021564 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 54016207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 407 (L407*)

Ref Sequence

ENSEMBL: ENSMUSP00000127932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025932] [ENSMUST00000169861]

AlphaFold

O88520

Predicted Effect

probably null
Transcript: ENSMUST00000025932
AA Change: L407*

SMART Domains

Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: L407*

Domain	Start	End	E-Value	Type
low complexity region	35	60	N/A	INTRINSIC
LRR	122	144	1.33e-1	SMART
LRR	145	167	6.05e0	SMART
LRR	168	190	4.7e0	SMART
LRR	191	213	7.57e0	SMART
LRR	214	235	3.55e1	SMART
LRR_TYP	237	260	1.1e-2	SMART
low complexity region	266	278	N/A	INTRINSIC
LRR	283	306	1.62e0	SMART
LRR	307	329	3.97e0	SMART
LRR	330	353	1.12e2	SMART
LRR	354	377	1.22e2	SMART
LRR	401	423	8.73e1	SMART
LRR	424	446	4.34e-1	SMART
LRR	447	469	4.65e-1	SMART
LRR	470	492	8.09e-1	SMART
LRR	493	514	2.82e0	SMART
LRR	516	540	5.89e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169861
AA Change: L407*

SMART Domains

Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: L407*

Domain	Start	End	E-Value	Type
low complexity region	35	60	N/A	INTRINSIC
LRR	122	144	1.33e-1	SMART
LRR	145	167	6.05e0	SMART
LRR	168	190	4.7e0	SMART
LRR	191	213	7.57e0	SMART
LRR	214	235	3.55e1	SMART
LRR_TYP	237	260	1.1e-2	SMART
low complexity region	266	278	N/A	INTRINSIC
LRR	283	306	1.62e0	SMART
LRR	307	329	3.97e0	SMART
LRR	330	353	1.12e2	SMART
LRR	354	377	1.22e2	SMART
LRR	401	423	8.73e1	SMART
LRR	424	446	4.34e-1	SMART
LRR	447	469	4.65e-1	SMART
LRR	470	492	8.09e-1	SMART
LRR	493	514	2.82e0	SMART
LRR	516	540	5.89e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
PHENOTYPE: Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcc9	A	T	6: 142,617,265 (GRCm39)		probably null	Het
Abcg8	T	C	17: 84,990,693 (GRCm39)	W12R	probably benign	Het
Ablim1	A	T	19: 57,140,751 (GRCm39)	C155*	probably null	Het
Adam33	A	G	2: 130,895,157 (GRCm39)	C658R	probably damaging	Het
Adamts2	A	G	11: 50,664,135 (GRCm39)	H357R	possibly damaging	Het
Adamts2	G	T	11: 50,668,023 (GRCm39)	K528N	probably damaging	Het
Arhgef12	G	A	9: 42,893,339 (GRCm39)	P955S	probably benign	Het
Atp2b2	T	A	6: 113,770,815 (GRCm39)	I365F	probably damaging	Het
AW112010	T	C	19: 11,025,701 (GRCm39)		noncoding transcript	Het
AY358078	T	C	14: 52,040,944 (GRCm39)	S88P	probably benign	Het
Cdc42bpg	T	C	19: 6,372,823 (GRCm39)	L1504S	probably benign	Het
Cracdl	T	C	1: 37,662,926 (GRCm39)	T991A	probably benign	Het
Dgkg	T	A	16: 22,367,441 (GRCm39)	H593L	probably damaging	Het
Gm10463	T	C	5: 32,288,742 (GRCm39)		probably benign	Het
Grm1	A	T	10: 10,595,723 (GRCm39)	L635Q	probably damaging	Het
Herc4	T	C	10: 63,109,244 (GRCm39)	C160R	probably benign	Het
Hs6st1	G	A	1: 36,142,821 (GRCm39)	R252H	probably damaging	Het
Litaf	A	G	16: 10,784,423 (GRCm39)	V29A	possibly damaging	Het
Lmo7	G	A	14: 102,044,918 (GRCm39)	V57I	probably benign	Het
Loxl4	A	T	19: 42,593,412 (GRCm39)	L253Q	probably benign	Het
Mon2	C	T	10: 122,870,235 (GRCm39)	V458I	probably benign	Het
Ncstn	G	T	1: 171,896,159 (GRCm39)	F506L	probably benign	Het
Nedd8	T	A	14: 55,901,273 (GRCm39)	D21V	probably damaging	Het
Oas1c	T	C	5: 120,943,591 (GRCm39)	T183A	possibly damaging	Het
Pcsk5	A	T	19: 17,488,920 (GRCm39)	Y967N	probably damaging	Het
Phf2	A	G	13: 48,958,715 (GRCm39)	S936P	unknown	Het
Pkd1	T	C	17: 24,804,753 (GRCm39)	I3159T	possibly damaging	Het
Prrt3	C	A	6: 113,474,788 (GRCm39)	V145F	possibly damaging	Het
Prx	T	A	7: 27,217,497 (GRCm39)	V666E	probably damaging	Het
Rapgef2	C	T	3: 78,974,060 (GRCm39)	V1577M	probably damaging	Het
Sesn3	T	C	9: 14,217,564 (GRCm39)		probably benign	Het
Slc6a12	A	G	6: 121,338,029 (GRCm39)	M435V	probably benign	Het
Smarcc1	C	T	9: 110,020,002 (GRCm39)	T623I	probably damaging	Het
Snx14	A	G	9: 88,289,517 (GRCm39)	L245S	probably damaging	Het
Son	T	A	16: 91,453,713 (GRCm39)	M820K	probably damaging	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Stoml2	C	A	4: 43,031,045 (GRCm39)	V37L	probably benign	Het
Syde2	T	A	3: 145,704,444 (GRCm39)	H465Q	probably benign	Het
Tmem164	T	A	X: 141,589,044 (GRCm39)	V40D	possibly damaging	Het
Trim37	A	G	11: 87,075,876 (GRCm39)	E494G	probably benign	Het
Triobp	A	G	15: 78,845,243 (GRCm39)	D195G	probably benign	Het
Unc79	G	A	12: 103,137,837 (GRCm39)	V2427M	probably damaging	Het
Usp27x	T	C	X: 7,239,780 (GRCm39)		probably benign	Het
Vmn2r113	T	A	17: 23,177,349 (GRCm39)	V711D	probably damaging	Het
Zfp940	T	C	7: 29,546,376 (GRCm39)	T7A	probably damaging	Het

Other mutations in Shoc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02660:Shoc2	APN	19	53,976,452 (GRCm39)	missense	probably benign
IGL02880:Shoc2	APN	19	54,019,525 (GRCm39)	missense	probably benign	0.13
IGL03024:Shoc2	APN	19	53,991,458 (GRCm39)	missense	probably benign
R1480:Shoc2	UTSW	19	53,976,202 (GRCm39)	missense	probably benign	0.09
R4400:Shoc2	UTSW	19	54,019,660 (GRCm39)	missense	probably benign	0.02
R4468:Shoc2	UTSW	19	54,014,845 (GRCm39)	missense	probably damaging	0.98
R4765:Shoc2	UTSW	19	53,976,734 (GRCm39)	missense	probably benign	0.00
R5309:Shoc2	UTSW	19	53,976,164 (GRCm39)	missense	probably benign
R5408:Shoc2	UTSW	19	53,976,556 (GRCm39)	missense	probably benign
R5745:Shoc2	UTSW	19	54,018,323 (GRCm39)	missense	probably benign	0.09
R5991:Shoc2	UTSW	19	53,991,480 (GRCm39)	missense	probably damaging	1.00
R6891:Shoc2	UTSW	19	53,976,548 (GRCm39)	missense	probably benign	0.00
R7493:Shoc2	UTSW	19	53,976,467 (GRCm39)	missense	probably benign	0.16
R8444:Shoc2	UTSW	19	53,976,503 (GRCm39)	missense	probably damaging	1.00
R9135:Shoc2	UTSW	19	53,976,310 (GRCm39)	missense	probably benign
R9213:Shoc2	UTSW	19	54,016,231 (GRCm39)	missense	probably benign	0.44

Posted On

2015-04-16