Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03388:Gm11492'

420942

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL03388

Quality Score

Status

Chromosome

Chromosomal Location

87566653-87569250 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 87568216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 472 (L472*)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000060360
AA Change: L472*

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: L472*

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,802,770		probably benign	Het
B3gnt5	A	G	16: 19,770,051	K340R	possibly damaging	Het
Ccr3	A	G	9: 124,028,621		probably benign	Het
Cdan1	A	G	2: 120,730,511		probably benign	Het
Clasp1	T	A	1: 118,505,503	D237E	possibly damaging	Het
Ddx18	T	C	1: 121,565,923	K111E	possibly damaging	Het
Defa21	T	C	8: 21,025,748	L54P	probably damaging	Het
Dennd3	T	C	15: 73,544,359	V486A	probably damaging	Het
Dnah9	T	A	11: 65,947,542	D3143V	probably damaging	Het
Dnm1l	A	G	16: 16,314,052		probably benign	Het
Epb41	T	C	4: 131,974,794	Y510C	probably damaging	Het
Fat4	T	C	3: 38,957,227	Y2159H	probably damaging	Het
Fmo1	A	G	1: 162,836,147	V271A	probably benign	Het
Gm12185	A	G	11: 48,908,286	V460A	probably benign	Het
Hspa8	T	C	9: 40,804,928		probably benign	Het
Hspb7	A	G	4: 141,424,045	E166G	probably damaging	Het
Il31ra	C	A	13: 112,546,212	S120I	probably damaging	Het
Kdm5b	A	G	1: 134,627,322	T1323A	probably benign	Het
Lgals9	T	A	11: 78,963,421	I346F	probably damaging	Het
Lgi2	T	C	5: 52,538,477	D372G	probably damaging	Het
Magi3	A	C	3: 104,015,841	S1187A	probably benign	Het
Nr1d2	A	G	14: 18,215,403	F203S	probably benign	Het
Nup210l	G	A	3: 90,170,044	V896I	probably damaging	Het
Nxf7	T	C	X: 135,584,740	K440E	probably damaging	Het
Olfr1505	T	A	19: 13,919,620	V200D	probably damaging	Het
Olfr776	A	T	10: 129,261,443	I161F	probably benign	Het
Pcdhb6	T	C	18: 37,336,137	S20P	probably damaging	Het
Per2	G	T	1: 91,444,789		probably benign	Het
Pi15	G	A	1: 17,602,777	A67T	probably benign	Het
Pnp2	A	T	14: 50,963,538	N160I	probably damaging	Het
Ppp1r12c	A	G	7: 4,482,070		probably benign	Het
Rabgap1l	A	T	1: 160,733,523		probably null	Het
Rnf115	G	A	3: 96,788,668	V257M	probably damaging	Het
Rtkn	T	A	6: 83,150,090	V346D	probably benign	Het
Rubcn	A	T	16: 32,841,568	N427K	probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Sel1l2	A	C	2: 140,263,364		probably benign	Het
Slc5a5	A	G	8: 70,890,328	V196A	probably benign	Het
Sox13	A	T	1: 133,388,948	L207H	probably damaging	Het
Tmtc2	A	G	10: 105,321,483		probably benign	Het
Trip12	T	C	1: 84,743,186	K1409R	probably damaging	Het
Ttn	C	T	2: 76,967,137	A528T	probably benign	Het
Ubr4	T	C	4: 139,415,032	I1310T	probably damaging	Het
Ypel5	T	C	17: 72,846,405	F35L	probably damaging	Het
Zfp13	G	T	17: 23,576,914	R228S	probably benign	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
IGL02566:Gm11492	APN	11	87567642	missense	probably benign	0.00
IGL03213:Gm11492	APN	11	87567358	splice site	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
R9289:Gm11492	UTSW	11	87568966	nonsense	probably null
T0970:Gm11492	UTSW	11	87567732	missense	probably damaging	0.98
Z1177:Gm11492	UTSW	11	87567922	missense	probably benign

Posted On

2016-08-02