Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03099:Sos2'

418657

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03099

Quality Score

Status

Chromosome

Chromosomal Location

69630536-69728626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69663133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 588 (N588Y)

Ref Sequence

ENSEMBL: ENSMUSP00000138589 (fasta)

Gene Model

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

AlphaFold

Q02384

Predicted Effect

probably damaging
Transcript: ENSMUST00000035773
AA Change: N620Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044866
Gene: ENSMUSG00000034801
AA Change: N620Y

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: N588Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138589
Gene: ENSMUSG00000034801
AA Change: N588Y

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 damaging
Transcript: ENSMUST00000183277
AA Change: N621Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138793
Gene: ENSMUSG00000034801
AA Change: N621Y

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	A	1: 87,055,328 (GRCm39)	F458L	probably benign	Het
Alpi	A	G	1: 87,026,353 (GRCm39)	L546P	unknown	Het
Arpc5l	A	G	2: 38,903,844 (GRCm39)	Y111C	probably damaging	Het
Atp11a	T	C	8: 12,877,462 (GRCm39)	F296S	possibly damaging	Het
Bbof1	C	T	12: 84,473,539 (GRCm39)	Q290*	probably null	Het
Brinp3	A	T	1: 146,777,835 (GRCm39)	T761S	possibly damaging	Het
Cyp2j6	A	T	4: 96,424,328 (GRCm39)	M143K	possibly damaging	Het
Daw1	T	C	1: 83,157,088 (GRCm39)		probably null	Het
Dst	A	G	1: 34,314,862 (GRCm39)	N6498D	probably damaging	Het
Fbxo15	T	C	18: 84,999,338 (GRCm39)	L380P	possibly damaging	Het
Glce	A	T	9: 61,967,344 (GRCm39)	F602L	probably benign	Het
Gpatch1	A	G	7: 34,996,948 (GRCm39)	S417P	possibly damaging	Het
Hjurp	T	C	1: 88,194,011 (GRCm39)	K223R	probably benign	Het
Hnrnpm	C	T	17: 33,888,146 (GRCm39)	C113Y	probably damaging	Het
Igkv4-71	T	C	6: 69,220,399 (GRCm39)	M11V	probably benign	Het
Insr	G	T	8: 3,308,715 (GRCm39)	T107K	probably damaging	Het
Mdm4	G	A	1: 132,919,947 (GRCm39)	T306M	probably damaging	Het
Nek11	T	C	9: 105,164,852 (GRCm39)	I425V	probably benign	Het
Otop3	T	A	11: 115,230,408 (GRCm39)	V95E	probably damaging	Het
Scn3a	G	A	2: 65,367,016 (GRCm39)	A2V	probably damaging	Het
Snx10	T	A	6: 51,556,840 (GRCm39)	M41K	possibly damaging	Het
Srrm3	C	A	5: 135,898,152 (GRCm39)		probably benign	Het
Tbc1d19	G	T	5: 54,040,997 (GRCm39)		probably benign	Het
Vmn2r68	T	A	7: 84,871,448 (GRCm39)	K612*	probably null	Het

Other mutations in Sos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Sos2	APN	12	69,663,623 (GRCm39)	splice site	probably benign
IGL01348:Sos2	APN	12	69,664,866 (GRCm39)	missense	probably damaging	0.99
IGL01360:Sos2	APN	12	69,637,574 (GRCm39)	missense	probably benign	0.00
IGL01586:Sos2	APN	12	69,654,172 (GRCm39)	missense	probably damaging	1.00
IGL01721:Sos2	APN	12	69,650,641 (GRCm39)	missense	probably damaging	0.99
IGL02024:Sos2	APN	12	69,664,822 (GRCm39)	splice site	probably benign
IGL02347:Sos2	APN	12	69,643,520 (GRCm39)	missense	probably benign
IGL02419:Sos2	APN	12	69,663,764 (GRCm39)	missense	probably benign
IGL02684:Sos2	APN	12	69,643,440 (GRCm39)	missense	probably damaging	1.00
IGL02719:Sos2	APN	12	69,663,958 (GRCm39)	missense	probably benign	0.00
Bechamel	UTSW	12	69,650,327 (GRCm39)	missense	probably damaging	1.00
sauce	UTSW	12	69,643,569 (GRCm39)	missense	probably damaging	1.00
G1citation:Sos2	UTSW	12	69,697,423 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Sos2	UTSW	12	69,664,851 (GRCm39)	missense	probably benign
R0038:Sos2	UTSW	12	69,643,467 (GRCm39)	missense	probably damaging	1.00
R0233:Sos2	UTSW	12	69,664,104 (GRCm39)	missense	probably benign	0.00
R0233:Sos2	UTSW	12	69,664,104 (GRCm39)	missense	probably benign	0.00
R0326:Sos2	UTSW	12	69,682,459 (GRCm39)	missense	probably damaging	1.00
R1386:Sos2	UTSW	12	69,661,432 (GRCm39)	missense	probably damaging	1.00
R1472:Sos2	UTSW	12	69,632,090 (GRCm39)	splice site	probably null
R1534:Sos2	UTSW	12	69,663,729 (GRCm39)	missense	probably damaging	1.00
R1861:Sos2	UTSW	12	69,664,137 (GRCm39)	missense	probably damaging	1.00
R1934:Sos2	UTSW	12	69,695,315 (GRCm39)	missense	probably damaging	0.99
R1964:Sos2	UTSW	12	69,663,636 (GRCm39)	missense	possibly damaging	0.51
R2402:Sos2	UTSW	12	69,643,573 (GRCm39)	missense	possibly damaging	0.95
R2516:Sos2	UTSW	12	69,697,433 (GRCm39)	missense	probably damaging	0.99
R2571:Sos2	UTSW	12	69,682,492 (GRCm39)	missense	possibly damaging	0.95
R3423:Sos2	UTSW	12	69,650,327 (GRCm39)	missense	probably damaging	1.00
R4435:Sos2	UTSW	12	69,661,473 (GRCm39)	missense	possibly damaging	0.79
R4508:Sos2	UTSW	12	69,682,435 (GRCm39)	nonsense	probably null
R4595:Sos2	UTSW	12	69,663,663 (GRCm39)	missense	probably damaging	1.00
R4606:Sos2	UTSW	12	69,661,380 (GRCm39)	intron	probably benign
R4691:Sos2	UTSW	12	69,663,102 (GRCm39)	missense	probably damaging	1.00
R4716:Sos2	UTSW	12	69,654,145 (GRCm39)	missense	probably benign	0.04
R4863:Sos2	UTSW	12	69,686,928 (GRCm39)	missense	probably benign	0.04
R5179:Sos2	UTSW	12	69,697,502 (GRCm39)	nonsense	probably null
R5319:Sos2	UTSW	12	69,674,058 (GRCm39)	missense	probably benign	0.22
R5694:Sos2	UTSW	12	69,637,689 (GRCm39)	missense	probably damaging	0.96
R5877:Sos2	UTSW	12	69,643,569 (GRCm39)	missense	probably damaging	1.00
R6363:Sos2	UTSW	12	69,678,885 (GRCm39)	missense	probably benign	0.00
R6465:Sos2	UTSW	12	69,643,549 (GRCm39)	missense	probably benign	0.01
R6817:Sos2	UTSW	12	69,664,935 (GRCm39)	missense	probably benign	0.32
R6822:Sos2	UTSW	12	69,697,423 (GRCm39)	missense	probably damaging	1.00
R7015:Sos2	UTSW	12	69,632,009 (GRCm39)	missense	probably benign	0.43
R7562:Sos2	UTSW	12	69,682,412 (GRCm39)	missense	probably benign	0.12
R7570:Sos2	UTSW	12	69,637,654 (GRCm39)	missense	probably damaging	1.00
R7757:Sos2	UTSW	12	69,695,359 (GRCm39)	missense	probably damaging	0.99
R7975:Sos2	UTSW	12	69,639,814 (GRCm39)	missense	probably benign	0.20
R8079:Sos2	UTSW	12	69,653,989 (GRCm39)	missense	probably damaging	1.00
R8194:Sos2	UTSW	12	69,645,598 (GRCm39)	missense	probably damaging	1.00
R8756:Sos2	UTSW	12	69,695,310 (GRCm39)	missense	probably damaging	1.00
R8775:Sos2	UTSW	12	69,664,006 (GRCm39)	missense	probably benign	0.02
R8775-TAIL:Sos2	UTSW	12	69,664,006 (GRCm39)	missense	probably benign	0.02
R9136:Sos2	UTSW	12	69,633,446 (GRCm39)	missense	possibly damaging	0.95
R9245:Sos2	UTSW	12	69,695,239 (GRCm39)	missense	probably damaging	1.00
Z1177:Sos2	UTSW	12	69,632,366 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02