Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03130:Lyrm1'

410267

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 #

IGL03130

Quality Score

Status

Chromosome

Chromosomal Location

119495038-119515979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119513403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 56 (D56G)

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 damaging
Transcript: ENSMUST00000054440
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051616
Gene: ENSMUSG00000030922
AA Change: D56G

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 damaging
Transcript: ENSMUST00000106516
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102126
Gene: ENSMUSG00000030922
AA Change: D56G

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 damaging
Transcript: ENSMUST00000106517
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102127
Gene: ENSMUSG00000030922
AA Change: D56G

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 damaging
Transcript: ENSMUST00000106518
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102128
Gene: ENSMUSG00000030922
AA Change: D56G

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 damaging
Transcript: ENSMUST00000207270
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208202
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208411

Predicted Effect

probably damaging
Transcript: ENSMUST00000208424
AA Change: D56G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	G	T	10: 85,224,347 (GRCm39)		probably null	Het
Agtpbp1	T	C	13: 59,622,403 (GRCm39)	E941G	possibly damaging	Het
Akap11	A	T	14: 78,747,808 (GRCm39)	Y1526*	probably null	Het
Brd1	T	C	15: 88,572,577 (GRCm39)	I1165V	probably benign	Het
Cdan1	T	C	2: 120,558,393 (GRCm39)	D473G	possibly damaging	Het
Clstn3	G	A	6: 124,436,222 (GRCm39)	L176F	probably damaging	Het
Ctif	T	C	18: 75,654,689 (GRCm39)	N279S	probably benign	Het
Dpy19l3	A	G	7: 35,452,097 (GRCm39)	S16P	probably benign	Het
Ecpas	A	T	4: 58,800,288 (GRCm39)	C1806S	probably benign	Het
Fam151b	T	C	13: 92,586,701 (GRCm39)	Y244C	probably benign	Het
Gbf1	T	C	19: 46,255,787 (GRCm39)	M750T	possibly damaging	Het
Gm11564	T	A	11: 99,705,879 (GRCm39)	T184S	unknown	Het
Gnptab	A	G	10: 88,272,233 (GRCm39)	K958E	possibly damaging	Het
Hibch	T	C	1: 52,924,310 (GRCm39)	S162P	possibly damaging	Het
Itpr1	T	C	6: 108,500,362 (GRCm39)	S2651P	probably benign	Het
LTO1	A	G	7: 144,470,197 (GRCm39)	E42G	probably damaging	Het
Manba	T	C	3: 135,256,920 (GRCm39)	Y528H	probably damaging	Het
Npas2	A	C	1: 39,352,109 (GRCm39)	E186D	probably damaging	Het
Or4f61	A	T	2: 111,922,166 (GRCm39)	D293E	probably benign	Het
Or7c19	A	T	8: 85,957,258 (GRCm39)	I45F	possibly damaging	Het
Or7d11	C	A	9: 19,966,668 (GRCm39)	L30F	probably benign	Het
Pcdhb6	T	A	18: 37,468,640 (GRCm39)	Y520*	probably null	Het
Plekhm1	C	T	11: 103,268,207 (GRCm39)	R588H	probably benign	Het
Psg23	A	T	7: 18,344,341 (GRCm39)	H371Q	probably benign	Het
Ptpn12	T	C	5: 21,207,610 (GRCm39)		probably benign	Het
Rela	T	C	19: 5,689,909 (GRCm39)	C120R	probably damaging	Het
Rps6kc1	T	A	1: 190,532,008 (GRCm39)	I665F	probably damaging	Het
Spg21	A	G	9: 65,380,990 (GRCm39)	Q99R	probably benign	Het
St14	A	G	9: 31,008,367 (GRCm39)		probably null	Het
Sult1c2	A	T	17: 54,137,099 (GRCm39)	N274K	probably benign	Het
Syk	T	C	13: 52,776,768 (GRCm39)	V256A	probably benign	Het
Tcte1	A	G	17: 45,844,222 (GRCm39)	D66G	probably damaging	Het
Tgm4	C	T	9: 122,885,580 (GRCm39)	T374M	probably damaging	Het
Tns4	T	C	11: 98,959,095 (GRCm39)	H668R	probably damaging	Het
Tsn	C	T	1: 118,232,999 (GRCm39)	A102T	possibly damaging	Het
Uvssa	T	A	5: 33,549,189 (GRCm39)	S350T	possibly damaging	Het
Vmn1r3	T	A	4: 3,185,214 (GRCm39)	Y31F	possibly damaging	Het
Vmn2r114	A	T	17: 23,515,970 (GRCm39)		probably benign	Het
Vmn2r27	T	C	6: 124,169,276 (GRCm39)	D618G	possibly damaging	Het
Vmn2r91	T	A	17: 18,330,373 (GRCm39)		probably benign	Het
Vti1a	T	C	19: 55,380,279 (GRCm39)	Y143H	probably damaging	Het
Zfand4	T	A	6: 116,250,620 (GRCm39)	Y17N	probably damaging	Het
Zfp729a	T	C	13: 67,767,761 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,787,586 (GRCm39)	T251A	probably damaging	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
IGL03338:Lyrm1	APN	7	119,513,469 (GRCm39)	missense	probably benign	0.18
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