Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02566:Gm11492'

298819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL02566

Quality Score

Status

Chromosome

Chromosomal Location

87566653-87569250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87567642 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 281 (S281A)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060360] [ENSMUST00000122945]

Predicted Effect

probably benign
Transcript: ENSMUST00000060360
AA Change: S281A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: S281A

Domain	Start	End	E-Value	Type
Pfam:DUF4655	13	369	1.7e-99	PFAM
Pfam:DUF4655	366	509	2.7e-68	PFAM
low complexity region	511	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122945

SMART Domains

Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	87	101	N/A	INTRINSIC
Pfam:DUF258	116	212	2.4e-7	PFAM
Pfam:Septin	134	213	9.1e-31	PFAM
Pfam:MMR_HSR1	139	213	5.5e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	C	T	7: 118,752,832	A154V	probably benign	Het
Arl4d	A	G	11: 101,667,154	S169G	probably damaging	Het
Bbx	A	T	16: 50,223,240		probably benign	Het
Blm	A	T	7: 80,474,196	M959K	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cyb5d1	T	C	11: 69,393,768	N186S	probably benign	Het
Elk3	A	G	10: 93,265,463	L142P	probably damaging	Het
Gk5	G	A	9: 96,129,046	D70N	possibly damaging	Het
Gpr84	T	C	15: 103,308,723	D309G	probably benign	Het
Greb1l	T	C	18: 10,503,299	V450A	probably damaging	Het
Gucy1b1	A	G	3: 82,058,329	F70S	probably damaging	Het
Jmjd4	T	A	11: 59,455,054	M320K	probably damaging	Het
Map10	A	G	8: 125,671,755	N629S	probably benign	Het
Nmd3	G	T	3: 69,739,914		probably benign	Het
Obscn	G	T	11: 59,068,147	T3359K	probably damaging	Het
Olfr31	C	A	14: 14,328,138	T9K	probably benign	Het
Pkhd1l1	A	G	15: 44,526,054		probably null	Het
Plcb1	T	C	2: 135,472,263	F1212L	probably benign	Het
Rabep1	A	G	11: 70,917,714	S459G	probably damaging	Het
Slc26a1	A	G	5: 108,673,799	S75P	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sult1d1	A	T	5: 87,564,811	L58Q	probably damaging	Het
Tnrc18	A	T	5: 142,772,313		probably benign	Het
Zfp442	T	C	2: 150,409,791		probably null	Het

Other mutations in Gm11492

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gm11492	APN	11	87568249	missense	probably benign	0.07
IGL01993:Gm11492	APN	11	87567729	missense	possibly damaging	0.85
IGL03213:Gm11492	APN	11	87567358	unclassified	probably null
IGL03388:Gm11492	APN	11	87568216	nonsense	probably null
R0050:Gm11492	UTSW	11	87567346	missense	probably damaging	1.00
R1479:Gm11492	UTSW	11	87567418	missense	probably damaging	1.00
R1851:Gm11492	UTSW	11	87568915	missense	probably damaging	1.00
R1862:Gm11492	UTSW	11	87567235	missense	possibly damaging	0.48
R1913:Gm11492	UTSW	11	87567012	missense	probably benign
R3149:Gm11492	UTSW	11	87567244	missense	possibly damaging	0.46
R3176:Gm11492	UTSW	11	87567244	missense	possibly damaging	0.46
R3276:Gm11492	UTSW	11	87567244	missense	possibly damaging	0.46
R4021:Gm11492	UTSW	11	87567280	missense	probably damaging	1.00
R4117:Gm11492	UTSW	11	87568282	missense	probably damaging	1.00
R4332:Gm11492	UTSW	11	87567904	missense	possibly damaging	0.95
R4515:Gm11492	UTSW	11	87568057	missense	probably benign
R4663:Gm11492	UTSW	11	87567603	missense	probably damaging	0.98
R4952:Gm11492	UTSW	11	87567772	missense	probably benign	0.00
R5015:Gm11492	UTSW	11	87567217	missense	possibly damaging	0.95
R5176:Gm11492	UTSW	11	87567532	missense	probably benign	0.02
R5711:Gm11492	UTSW	11	87567897	missense	probably benign	0.07
R6305:Gm11492	UTSW	11	87567319	missense	probably benign	0.00
T0970:Gm11492	UTSW	11	87567732	missense	probably damaging	0.98
Z1177:Gm11492	UTSW	11	87567922	missense	probably benign

Posted On

2015-04-16