Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Sos2'

75172

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 #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

69583762-69681852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69618092 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 355 (R355H)

Ref Sequence

ENSEMBL: ENSMUSP00000138589 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035773
AA Change: R387H

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: R387H

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 damaging
Transcript: ENSMUST00000182396
AA Change: R355H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: R355H

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

possibly damaging
Transcript: ENSMUST00000183277
AA Change: R388H

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: R388H

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Tpx2	A	G	2: 152,893,591	K713R	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in Sos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Sos2	APN	12	69616849	splice site	probably benign
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
IGL02719:Sos2	APN	12	69617184	missense	probably benign	0.00
IGL03099:Sos2	APN	12	69616359	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	unclassified	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

Posted On

2013-10-07