Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Lyrm1'

417099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lyrm1

Ensembl Gene

ENSMUSG00000030922

Gene Name

LYR motif containing 1

Synonyms

2310004B22Rik, 1110065L10Rik, 4930404J24Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

119495038-119515979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119513469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 78 (Q78L)

Ref Sequence

ENSEMBL: ENSMUSP00000146841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054440] [ENSMUST00000106516] [ENSMUST00000106517] [ENSMUST00000106518] [ENSMUST00000207270] [ENSMUST00000208202] [ENSMUST00000208424]

AlphaFold

Q9CQB7

Predicted Effect

probably benign
Transcript: ENSMUST00000054440
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000051616
Gene: ENSMUSG00000030922
AA Change: Q78L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	73	4.5e-19	PFAM
Pfam:Complex1_LYR_1	7	74	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106516
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102126
Gene: ENSMUSG00000030922
AA Change: Q78L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	73	4.5e-19	PFAM
Pfam:Complex1_LYR_1	7	74	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106517
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102127
Gene: ENSMUSG00000030922
AA Change: Q78L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	73	4.5e-19	PFAM
Pfam:Complex1_LYR_1	7	74	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106518
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102128
Gene: ENSMUSG00000030922
AA Change: Q78L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	7	73	4.5e-19	PFAM
Pfam:Complex1_LYR_1	7	74	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207270
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000208202
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208411

Predicted Effect

probably benign
Transcript: ENSMUST00000208424
AA Change: Q78L

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Brd4	T	A	17: 32,432,046 (GRCm39)	D606V	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Mboat1	T	A	13: 30,320,742 (GRCm39)	D31E	probably benign	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Or6c66b	A	G	10: 129,376,925 (GRCm39)	D173G	probably damaging	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Rgmb	C	T	17: 16,027,565 (GRCm39)	A385T	possibly damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Sntn	A	T	14: 13,678,991 (GRCm38)	D55V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	probably benign	Het

Other mutations in Lyrm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03062:Lyrm1	APN	7	119,515,354 (GRCm39)	splice site	probably benign
IGL03130:Lyrm1	APN	7	119,513,403 (GRCm39)	missense	probably damaging	1.00
R5394:Lyrm1	UTSW	7	119,513,471 (GRCm39)	missense	possibly damaging	0.93
R7976:Lyrm1	UTSW	7	119,515,449 (GRCm39)	missense	probably benign	0.00
R9505:Lyrm1	UTSW	7	119,509,090 (GRCm39)	missense	possibly damaging	0.47

Posted On

2016-08-02