Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01774:Gm5414'

154030

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5414

Ensembl Gene

ENSMUSG00000064232

Gene Name

predicted gene 5414

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

101624028-101628188 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101626975 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 225 (D225G)

Ref Sequence

ENSEMBL: ENSMUSP00000059101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062879]

Predicted Effect

probably benign
Transcript: ENSMUST00000062879
AA Change: D225G

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: D225G

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	148	3.3e-29	PFAM
Filament	151	464	1.4e-143	SMART
low complexity region	489	507	N/A	INTRINSIC
low complexity region	511	549	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,477,835	D708G	probably damaging	Het
Abca16	T	C	7: 120,421,801		probably benign	Het
Abcc5	T	C	16: 20,378,457	D674G	probably damaging	Het
Abr	A	G	11: 76,464,299		probably benign	Het
Arfgef3	A	G	10: 18,743,615	I4T	possibly damaging	Het
Btla	A	G	16: 45,250,548	N290S	possibly damaging	Het
Catip	C	A	1: 74,368,483	R325S	probably damaging	Het
Cep120	A	G	18: 53,706,830	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,115,307	I221V	probably benign	Het
Eloc	A	T	1: 16,645,789	D37E	probably benign	Het
Fabp12	A	C	3: 10,247,694	N89K	probably benign	Het
Ficd	G	T	5: 113,739,012	R416L	probably damaging	Het
Frmd3	T	C	4: 74,187,838	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,535,236		probably benign	Het
Gatc	G	A	5: 115,341,017	Q45*	probably null	Het
Itpkc	G	T	7: 27,212,370	A592E	probably benign	Het
Kl	G	T	5: 150,988,483	V566L	probably benign	Het
Lpin1	T	A	12: 16,558,476	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,385,885	Y483C	probably damaging	Het
Neb	C	T	2: 52,222,970	W67*	probably null	Het
Nrarp	T	C	2: 25,181,286	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,506,072	T345M	probably benign	Het
Olfr659	T	C	7: 104,670,942	I80T	probably benign	Het
Pacs2	T	A	12: 113,056,842	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,277	K420R	probably benign	Het
Rag2	A	G	2: 101,630,047	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,550,542	Q88*	probably null	Het
Rictor	T	C	15: 6,769,777	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,925,613	Q276*	probably null	Het
Tas2r134	C	T	2: 51,628,148	T213I	probably benign	Het
Tecpr1	A	G	5: 144,211,540	I349T	probably damaging	Het
Tnxb	T	C	17: 34,688,839	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,375,050	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,583,627	I229L	probably benign	Het
Vnn1	T	C	10: 23,900,710	Y320H	probably benign	Het
Zfp990	T	C	4: 145,536,948	V172A	probably benign	Het

Other mutations in Gm5414

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Gm5414	APN	15	101628134	missense	probably benign	0.00
IGL01939:Gm5414	APN	15	101625670	splice site	probably benign
IGL02205:Gm5414	APN	15	101625869	missense	probably benign	0.44
IGL02411:Gm5414	APN	15	101627834	missense	probably benign	0.05
IGL02720:Gm5414	APN	15	101625555	missense	probably damaging	1.00
IGL02900:Gm5414	APN	15	101627807	missense	probably damaging	0.99
IGL03283:Gm5414	APN	15	101627087	missense	probably damaging	1.00
PIT4480001:Gm5414	UTSW	15	101627746	missense	probably damaging	1.00
PIT4504001:Gm5414	UTSW	15	101625823	missense	probably damaging	0.98
R1905:Gm5414	UTSW	15	101624640	missense	probably damaging	1.00
R2070:Gm5414	UTSW	15	101628060	missense	possibly damaging	0.52
R3011:Gm5414	UTSW	15	101625612	missense	probably damaging	1.00
R3033:Gm5414	UTSW	15	101624609	missense	probably damaging	1.00
R4074:Gm5414	UTSW	15	101625553	missense	probably benign
R4257:Gm5414	UTSW	15	101624672	missense	probably damaging	1.00
R4396:Gm5414	UTSW	15	101625666	missense	probably damaging	1.00
R4648:Gm5414	UTSW	15	101628108	missense	possibly damaging	0.72
R4912:Gm5414	UTSW	15	101625010	missense	possibly damaging	0.46
R5095:Gm5414	UTSW	15	101624038	missense	probably benign	0.01
R5135:Gm5414	UTSW	15	101627768	missense	probably damaging	0.97
R5177:Gm5414	UTSW	15	101625817	missense	possibly damaging	0.91
R5330:Gm5414	UTSW	15	101624664	missense	probably damaging	1.00
R5331:Gm5414	UTSW	15	101624664	missense	probably damaging	1.00
R5432:Gm5414	UTSW	15	101624634	missense	probably damaging	1.00
R5521:Gm5414	UTSW	15	101627987	missense	probably benign	0.33
R5623:Gm5414	UTSW	15	101625811	missense	probably damaging	1.00
R6781:Gm5414	UTSW	15	101625661	missense	possibly damaging	0.91
R8298:Gm5414	UTSW	15	101624170	missense	unknown
RF001:Gm5414	UTSW	15	101627953	missense	probably benign

Posted On

2014-02-04