Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02719:Sos2'

304898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sos2

Ensembl Gene

ENSMUSG00000034801

Gene Name

SOS Ras/Rho guanine nucleotide exchange factor 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02719

Quality Score

Status

Chromosome

Chromosomal Location

69583762-69681852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69617184 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 476 (Y476H)

Ref Sequence

ENSEMBL: ENSMUSP00000138589 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035773] [ENSMUST00000182396] [ENSMUST00000183277]

Predicted Effect

probably benign
Transcript: ENSMUST00000035773
AA Change: Y508H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: Y508H

Domain	Start	End	E-Value	Type
Pfam:Histone	54	169	3.7e-13	PFAM
RhoGEF	203	388	1.98e-35	SMART
PH	443	547	1.54e-14	SMART
RasGEFN	595	740	5.8e-52	SMART
RasGEF	775	1019	2.51e-92	SMART
low complexity region	1079	1099	N/A	INTRINSIC
low complexity region	1144	1152	N/A	INTRINSIC
low complexity region	1173	1192	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
low complexity region	1254	1269	N/A	INTRINSIC
low complexity region	1276	1292	N/A	INTRINSIC
low complexity region	1301	1309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182396
AA Change: Y476H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: Y476H

Domain	Start	End	E-Value	Type
Pfam:Histone	97	169	1e-9	PFAM
Pfam:RhoGEF	203	344	1.6e-12	PFAM
PH	410	514	1.54e-14	SMART
RasGEFN	562	707	5.8e-52	SMART
RasGEF	742	986	2.51e-92	SMART
low complexity region	1046	1066	N/A	INTRINSIC
low complexity region	1111	1119	N/A	INTRINSIC
low complexity region	1140	1159	N/A	INTRINSIC
low complexity region	1167	1192	N/A	INTRINSIC
low complexity region	1221	1236	N/A	INTRINSIC
low complexity region	1243	1259	N/A	INTRINSIC
low complexity region	1268	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183277
AA Change: Y509H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: Y509H

Domain	Start	End	E-Value	Type
Pfam:Histone	97	169	8.9e-11	PFAM
RhoGEF	203	388	1.98e-35	SMART
PH	443	547	1.54e-14	SMART
RasGEFN	595	740	5.8e-52	SMART
RasGEF	775	1019	2.51e-92	SMART
low complexity region	1079	1099	N/A	INTRINSIC
low complexity region	1144	1152	N/A	INTRINSIC
low complexity region	1173	1192	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
low complexity region	1254	1269	N/A	INTRINSIC
low complexity region	1276	1292	N/A	INTRINSIC
low complexity region	1301	1309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183306

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 regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology. [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
1700109H08Rik	A	G	5: 3,582,150	D160G	probably damaging	Het
Aak1	A	G	6: 86,959,170		probably benign	Het
Anp32e	A	G	3: 95,937,912		probably benign	Het
Aspscr1	T	A	11: 120,677,579	L61Q	probably damaging	Het
Btrc	A	G	19: 45,503,150	I89M	probably damaging	Het
Ccdc175	G	A	12: 72,175,125	T141M	probably damaging	Het
Cep70	G	A	9: 99,275,722	V225I	probably damaging	Het
Col4a1	T	C	8: 11,231,950		probably benign	Het
Cpne1	T	C	2: 156,078,217	Y214C	probably damaging	Het
Crtc3	T	C	7: 80,618,658		probably null	Het
Cul2	C	T	18: 3,434,052	A683V	probably damaging	Het
Ddx47	A	G	6: 135,017,151	N131D	probably benign	Het
Dnah7b	T	G	1: 46,099,608		probably benign	Het
Dnaic2	T	C	11: 114,751,911	L446P	probably damaging	Het
Ergic2	T	C	6: 148,204,819	T58A	possibly damaging	Het
Erlin2	A	G	8: 27,029,675		probably benign	Het
Fermt2	T	C	14: 45,504,656	T78A	probably damaging	Het
Flg2	G	T	3: 93,220,131	G97*	probably null	Het
Gm7356	A	G	17: 14,001,275	I164T	probably damaging	Het
Gucy1a2	T	A	9: 3,894,719		probably benign	Het
Heatr5b	C	T	17: 78,815,540	R670H	probably damaging	Het
Hspa4l	T	C	3: 40,772,658	V476A	possibly damaging	Het
Ick	A	G	9: 78,140,019	E67G	probably damaging	Het
Itpkc	A	T	7: 27,228,050	D146E	possibly damaging	Het
Kcnk3	T	C	5: 30,621,980	F125L	probably damaging	Het
Kif12	T	A	4: 63,167,796	M411L	probably benign	Het
Krtap24-1	T	C	16: 88,612,206	S11G	probably benign	Het
Lilra6	A	T	7: 3,912,992	H289Q	possibly damaging	Het
Musk	A	C	4: 58,356,496	N469H	probably benign	Het
Myom1	A	G	17: 71,106,354		probably benign	Het
Nagpa	A	G	16: 5,201,493	V46A	possibly damaging	Het
Olfr1281	T	A	2: 111,329,245	Y275*	probably null	Het
Olfr146	T	C	9: 39,019,016	N175S	probably benign	Het
Olfr193	T	A	16: 59,110,173	T146S	probably benign	Het
Parp6	T	A	9: 59,630,738	V222E	probably benign	Het
Pde3b	T	A	7: 114,506,248	S472T	probably damaging	Het
Peak1	A	G	9: 56,227,206	S1314P	probably damaging	Het
Pgc	A	G	17: 47,728,867	Y62C	probably damaging	Het
Pitpnm2	A	G	5: 124,140,602	C189R	probably damaging	Het
Pla2g15	G	T	8: 106,160,196	Q106H	probably benign	Het
Pla2g4c	T	A	7: 13,330,094	S93T	probably damaging	Het
Rbks	G	T	5: 31,651,801		probably benign	Het
Retsat	A	G	6: 72,603,659	T207A	possibly damaging	Het
Slc25a32	A	G	15: 39,099,905	Y174H	probably benign	Het
Slc35f2	T	A	9: 53,809,742		probably benign	Het
Snx19	A	G	9: 30,432,260	N572S	possibly damaging	Het
Ssh2	A	T	11: 77,425,587	N296I	probably damaging	Het
Sspo	G	T	6: 48,482,667	R3320L	probably benign	Het
Synj2	A	G	17: 5,996,917	I166V	probably benign	Het
Tpp2	T	C	1: 43,940,231	V96A	probably benign	Het
Vmn2r3	A	T	3: 64,275,610	W223R	probably damaging	Het
Wdr17	T	C	8: 54,693,054		probably null	Het
Zfr2	T	A	10: 81,244,712	C407S	probably damaging	Het

Other mutations in Sos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Sos2	APN	12	69616849	splice site	probably benign
IGL01348:Sos2	APN	12	69618092	missense	probably damaging	0.99
IGL01360:Sos2	APN	12	69590800	missense	probably benign	0.00
IGL01586:Sos2	APN	12	69607398	missense	probably damaging	1.00
IGL01721:Sos2	APN	12	69603867	missense	probably damaging	0.99
IGL02024:Sos2	APN	12	69618048	splice site	probably benign
IGL02347:Sos2	APN	12	69596746	missense	probably benign
IGL02419:Sos2	APN	12	69616990	missense	probably benign
IGL02684:Sos2	APN	12	69596666	missense	probably damaging	1.00
IGL03099:Sos2	APN	12	69616359	missense	probably damaging	1.00
Bechamel	UTSW	12	69603553	missense	probably damaging	1.00
sauce	UTSW	12	69596795	missense	probably damaging	1.00
G1citation:Sos2	UTSW	12	69650649	missense	probably damaging	1.00
PIT4131001:Sos2	UTSW	12	69618077	missense	probably benign
R0038:Sos2	UTSW	12	69596693	missense	probably damaging	1.00
R0233:Sos2	UTSW	12	69617330	missense	probably benign	0.00
R0233:Sos2	UTSW	12	69617330	missense	probably benign	0.00
R0326:Sos2	UTSW	12	69635685	missense	probably damaging	1.00
R1386:Sos2	UTSW	12	69614658	missense	probably damaging	1.00
R1472:Sos2	UTSW	12	69585316	splice site	probably null
R1534:Sos2	UTSW	12	69616955	missense	probably damaging	1.00
R1861:Sos2	UTSW	12	69617363	missense	probably damaging	1.00
R1934:Sos2	UTSW	12	69648541	missense	probably damaging	0.99
R1964:Sos2	UTSW	12	69616862	missense	possibly damaging	0.51
R2402:Sos2	UTSW	12	69596799	missense	possibly damaging	0.95
R2516:Sos2	UTSW	12	69650659	missense	probably damaging	0.99
R2571:Sos2	UTSW	12	69635718	missense	possibly damaging	0.95
R3423:Sos2	UTSW	12	69603553	missense	probably damaging	1.00
R4435:Sos2	UTSW	12	69614699	missense	possibly damaging	0.79
R4508:Sos2	UTSW	12	69635661	nonsense	probably null
R4595:Sos2	UTSW	12	69616889	missense	probably damaging	1.00
R4606:Sos2	UTSW	12	69614606	intron	probably benign
R4691:Sos2	UTSW	12	69616328	missense	probably damaging	1.00
R4716:Sos2	UTSW	12	69607371	missense	probably benign	0.04
R4863:Sos2	UTSW	12	69640154	missense	probably benign	0.04
R5179:Sos2	UTSW	12	69650728	nonsense	probably null
R5319:Sos2	UTSW	12	69627284	missense	probably benign	0.22
R5694:Sos2	UTSW	12	69590915	missense	probably damaging	0.96
R5877:Sos2	UTSW	12	69596795	missense	probably damaging	1.00
R6363:Sos2	UTSW	12	69632111	missense	probably benign	0.00
R6465:Sos2	UTSW	12	69596775	missense	probably benign	0.01
R6817:Sos2	UTSW	12	69618161	missense	probably benign	0.32
R6822:Sos2	UTSW	12	69650649	missense	probably damaging	1.00
R7015:Sos2	UTSW	12	69585235	missense	probably benign	0.43
R7562:Sos2	UTSW	12	69635638	missense	probably benign	0.12
R7570:Sos2	UTSW	12	69590880	missense	probably damaging	1.00
R7757:Sos2	UTSW	12	69648585	missense	probably damaging	0.99
R7975:Sos2	UTSW	12	69593040	missense	probably benign	0.20
R8079:Sos2	UTSW	12	69607215	missense	probably damaging	1.00
R8194:Sos2	UTSW	12	69598824	missense	probably damaging	1.00
Z1177:Sos2	UTSW	12	69585592	missense	probably damaging	1.00

Posted On

2015-04-16