Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02587:Gm13178'

299570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm13178

Ensembl Gene

ENSMUSG00000041735

Gene Name

predicted gene 13178

Synonyms

Accession Numbers

Ncbi RefSeq: NM_001085536.1; MGI: 3650721

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02587

Quality Score

Status

Chromosome

Chromosomal Location

144703191-144721404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 144703399 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 340 (T340I)

Ref Sequence

ENSEMBL: ENSMUSP00000045343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036876]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036876
AA Change: T340I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045343
Gene: ENSMUSG00000041735
AA Change: T340I

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
transmembrane domain	43	60	N/A	INTRINSIC
low complexity region	79	84	N/A	INTRINSIC
Pfam:Abhydrolase_3	116	286	2.3e-27	PFAM
Pfam:Abhydrolase_3	287	382	8.8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209924

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	A	T	15: 20,665,797	V286E	possibly damaging	Het
Bpifa6	T	C	2: 153,989,210	L232P	probably damaging	Het
Calr4	A	G	4: 109,238,937	N104S	possibly damaging	Het
Cdc42bpa	A	G	1: 180,093,945	E550G	possibly damaging	Het
D3Ertd751e	T	A	3: 41,753,852	N141K	probably benign	Het
Emilin2	A	G	17: 71,280,856		probably benign	Het
Eml6	T	C	11: 29,784,236	E1168G	possibly damaging	Het
Fbxo48	T	C	11: 16,953,659	I95T	probably benign	Het
Fpr3	A	T	17: 17,970,691	T75S	probably benign	Het
Gm4788	G	A	1: 139,701,930	T712I	probably damaging	Het
Gm5145	A	G	17: 20,571,190	K277E	probably damaging	Het
Gnao1	A	G	8: 93,950,439		probably benign	Het
Krt8	G	A	15: 101,998,932	R239C	probably benign	Het
Lrrc17	A	T	5: 21,561,080	N187Y	probably damaging	Het
Neil1	C	T	9: 57,144,979	R195H	probably damaging	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Pi4ka	C	A	16: 17,317,353	G946W	probably damaging	Het
Plcg2	A	T	8: 117,558,113	N159I	possibly damaging	Het
Rad54l	A	G	4: 116,105,797	Y335H	probably damaging	Het
Rgsl1	C	T	1: 153,799,938	R159H	probably damaging	Het
Scn11a	T	C	9: 119,805,684	D357G	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Timeless	A	G	10: 128,239,916	M6V	probably damaging	Het
Vps16	T	C	2: 130,439,716		probably null	Het
Zfp955b	C	A	17: 33,300,650	Q31K	probably damaging	Het

Other mutations in Gm13178

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Gm13178	APN	4	144703693	missense	possibly damaging	0.87
IGL01985:Gm13178	APN	4	144715454	nonsense	probably null
P0018:Gm13178	UTSW	4	144703197	missense	probably benign	0.00
R0395:Gm13178	UTSW	4	144703195	missense	probably benign	0.14
R1617:Gm13178	UTSW	4	144715391	missense	probably damaging	1.00
R3802:Gm13178	UTSW	4	144703504	missense	possibly damaging	0.82
R4409:Gm13178	UTSW	4	144721302	missense	possibly damaging	0.86
R4577:Gm13178	UTSW	4	144703753	missense	probably damaging	1.00
R4603:Gm13178	UTSW	4	144703228	missense	probably benign	0.00
R5069:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R5801:Gm13178	UTSW	4	144703636	missense	probably damaging	1.00
R5802:Gm13178	UTSW	4	144703636	missense	probably damaging	1.00
R5893:Gm13178	UTSW	4	144703196	missense	probably benign
R6148:Gm13178	UTSW	4	144721317	missense	possibly damaging	0.89
R6466:Gm13178	UTSW	4	144703867	missense	probably damaging	1.00
R6655:Gm13178	UTSW	4	144705245	missense	probably damaging	1.00
R7006:Gm13178	UTSW	4	144721283	missense	probably benign	0.00
R7021:Gm13178	UTSW	4	144715492	missense	probably damaging	1.00
R7030:Gm13178	UTSW	4	144703603	missense	possibly damaging	0.85
R7514:Gm13178	UTSW	4	144703228	missense	possibly damaging	0.66
R7773:Gm13178	UTSW	4	144703477	missense	probably damaging	0.98
R7791:Gm13178	UTSW	4	144703445	missense	probably damaging	1.00
R8012:Gm13178	UTSW	4	144703402	missense	possibly damaging	0.48
Z1176:Gm13178	UTSW	4	144703325	missense	probably damaging	1.00
Z1177:Gm13178	UTSW	4	144703646	missense	possibly damaging	0.87

Posted On

2015-04-16