Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01022:Gm5117'

53740

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5117

Ensembl Gene

ENSMUSG00000093862

Gene Name

predicted gene 5117

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.896) question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

32227236-32229788 bp(-) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

T to A at 32228515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178878

SMART Domains

Protein: ENSMUSP00000137046
Gene: ENSMUSG00000093862

Domain	Start	End	E-Value	Type
low complexity region	147	158	N/A	INTRINSIC
low complexity region	608	627	N/A	INTRINSIC
Pfam:Met_10	666	799	1.5e-9	PFAM
Pfam:UPF0020	672	770	4e-8	PFAM
Pfam:Methyltransf_18	687	815	5e-10	PFAM
Pfam:Methyltransf_31	688	801	1.5e-10	PFAM
Pfam:Methyltransf_26	688	803	1e-8	PFAM
Pfam:Methyltransf_15	688	842	5e-48	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,038,721 (GRCm39)	S927P	probably benign	Het
Arfgef1	G	T	1: 10,244,301 (GRCm39)	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344 (GRCm39)	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,577,099 (GRCm39)	C71S	probably damaging	Het
Bod1l	A	T	5: 41,951,652 (GRCm39)	S2920T	probably damaging	Het
Camta2	G	A	11: 70,562,308 (GRCm39)	R1030*	probably null	Het
Chd8	T	C	14: 52,474,450 (GRCm39)	T194A	probably benign	Het
Col9a3	A	T	2: 180,258,227 (GRCm39)	I549F	probably damaging	Het
Fstl4	A	G	11: 53,077,568 (GRCm39)	N775S	probably benign	Het
Gm10800	T	A	2: 98,497,576 (GRCm39)		probably benign	Het
Hap1	A	G	11: 100,240,374 (GRCm39)	L112P	probably benign	Het
Hcls1	C	A	16: 36,771,488 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,507,699 (GRCm39)		probably benign	Het
Lct	T	A	1: 128,228,596 (GRCm39)	I966L	probably benign	Het
Myo1h	A	T	5: 114,474,361 (GRCm39)	I451F	possibly damaging	Het
Notch4	G	A	17: 34,784,671 (GRCm39)	C128Y	probably damaging	Het
Oca2	T	A	7: 55,974,504 (GRCm39)	N484K	probably damaging	Het
Or51f1e	T	G	7: 102,747,077 (GRCm39)	L43R	probably damaging	Het
Or7a42	A	T	10: 78,791,188 (GRCm39)	I50F	possibly damaging	Het
Rprd2	T	A	3: 95,671,066 (GRCm39)	R1362*	probably null	Het
Sema3a	C	T	5: 13,523,433 (GRCm39)	T134I	probably damaging	Het
Sfta2	C	T	17: 35,961,336 (GRCm39)	T74I	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,353 (GRCm39)		noncoding transcript	Het
Spag11a	A	T	8: 19,208,005 (GRCm39)	Q15H	probably damaging	Het
Tbc1d22a	G	A	15: 86,185,756 (GRCm39)	D282N	probably damaging	Het
Tmbim6	G	A	15: 99,300,003 (GRCm39)	V40M	possibly damaging	Het
Tmem259	A	G	10: 79,819,808 (GRCm39)	V22A	probably damaging	Het
Tnik	T	C	3: 28,679,377 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,424,610 (GRCm39)	D2002G	probably benign	Het

Other mutations in Gm5117

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01362:Gm5117	APN	8	32,227,947 (GRCm39)	exon	noncoding transcript
IGL01972:Gm5117	APN	8	32,227,787 (GRCm39)	exon	noncoding transcript
IGL02100:Gm5117	APN	8	32,227,412 (GRCm39)	exon	noncoding transcript
IGL02339:Gm5117	APN	8	32,228,254 (GRCm39)	exon	noncoding transcript
IGL02366:Gm5117	APN	8	32,227,887 (GRCm39)	exon	noncoding transcript
IGL02505:Gm5117	APN	8	32,228,344 (GRCm39)	exon	noncoding transcript
IGL02698:Gm5117	APN	8	32,229,767 (GRCm39)	exon	noncoding transcript
IGL03310:Gm5117	APN	8	32,228,836 (GRCm39)	exon	noncoding transcript
IGL02835:Gm5117	UTSW	8	32,227,198 (GRCm39)	unclassified	noncoding transcript
R1816:Gm5117	UTSW	8	32,228,986 (GRCm39)	exon	noncoding transcript
R2157:Gm5117	UTSW	8	32,228,222 (GRCm39)	exon	noncoding transcript
R2353:Gm5117	UTSW	8	32,229,223 (GRCm39)	exon	noncoding transcript
R2404:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2408:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2409:Gm5117	UTSW	8	32,227,306 (GRCm39)	exon	noncoding transcript
R2510:Gm5117	UTSW	8	32,228,383 (GRCm39)	exon	noncoding transcript
R4686:Gm5117	UTSW	8	32,229,284 (GRCm39)	exon	noncoding transcript
R4953:Gm5117	UTSW	8	32,228,608 (GRCm39)	exon	noncoding transcript
R5244:Gm5117	UTSW	8	32,228,305 (GRCm39)	exon	noncoding transcript
R5275:Gm5117	UTSW	8	32,229,595 (GRCm39)	exon	noncoding transcript
R5329:Gm5117	UTSW	8	32,227,910 (GRCm39)	exon	noncoding transcript

Posted On

2013-06-28