Mutagenetix > Incidental Mutation

Incidental Mutation 'R1467:Lyrm7'

164599

Institutional Source

Beutler Lab

Gene Symbol

Lyrm7

Ensembl Gene

ENSMUSG00000020268

Gene Name

LYR motif containing 7

Synonyms

1700024C24Rik, 9330147L21Rik

MMRRC Submission

039520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R1467 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54717692-54751738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54741215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 40 (F40L)

Ref Sequence

ENSEMBL: ENSMUSP00000118373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000141703] [ENSMUST00000144164] [ENSMUST00000148070]

AlphaFold

Q9DA03

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135853

Predicted Effect

probably damaging
Transcript: ENSMUST00000141703
AA Change: F40L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121259
Gene: ENSMUSG00000020268
AA Change: F40L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	5	58	3.5e-13	PFAM
Pfam:Complex1_LYR_1	5	58	8.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144164
AA Change: F40L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120778
Gene: ENSMUSG00000020268
AA Change: F40L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	5	62	1.1e-12	PFAM
Pfam:Complex1_LYR_1	5	69	1.6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148070
AA Change: F40L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118373
Gene: ENSMUSG00000020268
AA Change: F40L

Domain	Start	End	E-Value	Type
Pfam:Complex1_LYR	5	62	8.4e-14	PFAM
Pfam:Complex1_LYR_1	5	82	2.9e-13	PFAM

Meta Mutation Damage Score

0.3975

Coding Region Coverage

1x: 99.6%
3x: 98.1%
10x: 88.5%
20x: 62.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,058,093 (GRCm39)	V9L	possibly damaging	Het
A630010A05Rik	C	A	16: 14,436,447 (GRCm39)	L167I	possibly damaging	Het
Abca14	A	T	7: 119,815,405 (GRCm39)	M218L	possibly damaging	Het
Abca15	C	A	7: 119,939,761 (GRCm39)		probably null	Het
Acod1	T	C	14: 103,292,003 (GRCm39)	F176L	probably benign	Het
Actr5	A	G	2: 158,480,617 (GRCm39)	H545R	probably benign	Het
Adcy1	A	G	11: 7,088,396 (GRCm39)	T472A	probably damaging	Het
Aldh1l1	A	G	6: 90,548,910 (GRCm39)	K469R	possibly damaging	Het
Ambra1	A	T	2: 91,716,048 (GRCm39)	Q853L	probably damaging	Het
Apol7e	G	T	15: 77,601,966 (GRCm39)	G188V	probably damaging	Het
AU018091	A	T	7: 3,214,089 (GRCm39)	W43R	probably benign	Het
Baat	A	G	4: 49,503,101 (GRCm39)	V7A	probably benign	Het
Bcas1	C	A	2: 170,229,852 (GRCm39)	Q249H	possibly damaging	Het
Bltp1	T	A	3: 37,090,094 (GRCm39)	V676D	probably damaging	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Btg3	A	G	16: 78,161,688 (GRCm39)		probably null	Het
Cacna2d3	T	C	14: 29,055,736 (GRCm39)	N298S	possibly damaging	Het
Carf	G	A	1: 60,167,152 (GRCm39)	V127I	possibly damaging	Het
Catsperg1	T	C	7: 28,884,433 (GRCm39)	S916G	probably damaging	Het
Cers1	T	C	8: 70,775,819 (GRCm39)	S274P	possibly damaging	Het
Ces4a	T	A	8: 105,864,667 (GRCm39)	V48E	possibly damaging	Het
Cfap54	T	A	10: 92,805,625 (GRCm39)	H1495L	probably benign	Het
Cntnap5a	T	A	1: 115,612,898 (GRCm39)	L11*	probably null	Het
Cr2	C	T	1: 194,839,817 (GRCm39)	G913R	probably damaging	Het
Cul9	A	G	17: 46,836,299 (GRCm39)	L1155P	probably damaging	Het
Dlec1	A	T	9: 118,971,646 (GRCm39)	D1278V	probably damaging	Het
Dmrt2	A	G	19: 25,650,970 (GRCm39)	E52G	possibly damaging	Het
Dsp	A	G	13: 38,376,688 (GRCm39)	K1491R	probably benign	Het
Ecpas	A	G	4: 58,832,753 (GRCm39)	V869A	probably benign	Het
Eef1d	A	T	15: 75,767,770 (GRCm39)	D206E	probably damaging	Het
Erbb2	C	T	11: 98,327,001 (GRCm39)	Q1137*	probably null	Het
Ercc2	T	A	7: 19,119,811 (GRCm39)	D157E	probably benign	Het
Eri1	A	G	8: 35,936,284 (GRCm39)	*346Q	probably null	Het
Espl1	A	G	15: 102,228,293 (GRCm39)	E1689G	probably benign	Het
Fap	C	T	2: 62,347,964 (GRCm39)	V539I	probably benign	Het
Fasn	A	G	11: 120,701,866 (GRCm39)	F1871S	probably benign	Het
Gabpb1	T	G	2: 126,494,247 (GRCm39)	Y126S	probably damaging	Het
Grm1	T	C	10: 10,595,702 (GRCm39)	Y642C	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hmbox1	T	C	14: 65,099,027 (GRCm39)	D212G	possibly damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Hoxb9	A	G	11: 96,162,764 (GRCm39)	T133A	probably benign	Het
Insr	A	T	8: 3,219,720 (GRCm39)	V934E	probably damaging	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itga10	C	T	3: 96,559,545 (GRCm39)	Q481*	probably null	Het
Kntc1	T	A	5: 123,925,047 (GRCm39)	M1120K	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Lrrc38	A	T	4: 143,096,450 (GRCm39)	I254F	probably damaging	Het
Mfsd4b1	C	T	10: 39,878,631 (GRCm39)	S422N	possibly damaging	Het
Mlh3	A	T	12: 85,284,374 (GRCm39)	L1380*	probably null	Het
Mrpl24	C	A	3: 87,829,744 (GRCm39)	A110D	probably benign	Het
Mrps14	T	C	1: 160,024,520 (GRCm39)	V17A	probably benign	Het
Mtcl1	T	C	17: 66,755,322 (GRCm39)	D340G	probably damaging	Het
Neb	T	C	2: 52,120,059 (GRCm39)	Y3900C	probably damaging	Het
Neurod4	T	C	10: 130,106,473 (GRCm39)	D267G	probably benign	Het
Nf1	A	T	11: 79,319,452 (GRCm39)	I536F	possibly damaging	Het
Nkg7	C	T	7: 43,086,857 (GRCm39)	P44S	probably damaging	Het
Or14c40	T	C	7: 86,313,185 (GRCm39)	V105A	possibly damaging	Het
Or4a67	T	C	2: 88,597,832 (GRCm39)	I276V	probably benign	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pcnx2	A	T	8: 126,480,289 (GRCm39)	L2006Q	possibly damaging	Het
Pcnx3	A	T	19: 5,724,922 (GRCm39)	S821T	possibly damaging	Het
Pde8b	T	A	13: 95,170,680 (GRCm39)	D662V	probably damaging	Het
Pkd1l3	C	T	8: 110,343,000 (GRCm39)	P113S	unknown	Het
Pkd2l1	G	T	19: 44,142,648 (GRCm39)	Q465K	possibly damaging	Het
Plch2	G	T	4: 155,068,189 (GRCm39)	P1479Q	probably benign	Het
Plekhm3	A	T	1: 64,932,041 (GRCm39)	I521N	probably damaging	Het
Pola2	A	T	19: 5,992,093 (GRCm39)	Y526*	probably null	Het
Prss23	T	C	7: 89,159,217 (GRCm39)	D284G	probably damaging	Het
Psme2b	A	G	11: 48,836,467 (GRCm39)	F160S	probably damaging	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rbbp9	G	T	2: 144,385,777 (GRCm39)	R163S	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rhou	T	C	8: 124,388,029 (GRCm39)	W254R	possibly damaging	Het
Scfd1	A	G	12: 51,478,281 (GRCm39)	K498E	possibly damaging	Het
Scn7a	A	G	2: 66,519,902 (GRCm39)	Y1001H	probably benign	Het
Setx	T	A	2: 29,048,917 (GRCm39)	V1981E	probably damaging	Het
Sfxn1	T	C	13: 54,247,890 (GRCm39)	I205T	possibly damaging	Het
Shld2	G	T	14: 33,990,619 (GRCm39)	H96N	possibly damaging	Het
Speer1g	C	T	5: 11,180,337 (GRCm39)	H82Y	probably damaging	Het
Spock1	G	A	13: 57,577,182 (GRCm39)	R416C	possibly damaging	Het
Spred2	A	G	11: 19,968,109 (GRCm39)	I222V	probably benign	Het
Stkld1	A	T	2: 26,839,407 (GRCm39)	T358S	probably benign	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Tdpoz1	T	A	3: 93,578,637 (GRCm39)	E49V	probably benign	Het
Tert	A	G	13: 73,776,328 (GRCm39)	T360A	probably benign	Het
Tspear	A	G	10: 77,717,026 (GRCm39)	Y567C	probably damaging	Het
Ttc28	A	G	5: 111,433,254 (GRCm39)	Q2096R	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,028 (GRCm39)	H326L	probably damaging	Het
Vmn2r18	A	G	5: 151,510,301 (GRCm39)	F24S	possibly damaging	Het
Vmn2r82	A	T	10: 79,232,133 (GRCm39)	I711F	probably benign	Het
Vwa8	C	T	14: 79,341,134 (GRCm39)	Q1537*	probably null	Het
Wdr64	G	A	1: 175,603,288 (GRCm39)	V630I	probably benign	Het
Wnt6	G	T	1: 74,821,434 (GRCm39)	W84L	probably damaging	Het
Zfp11	C	A	5: 129,735,254 (GRCm39)	R69L	probably benign	Het

Other mutations in Lyrm7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03114:Lyrm7	APN	11	54,741,198 (GRCm39)	missense	possibly damaging	0.69
R0006:Lyrm7	UTSW	11	54,739,423 (GRCm39)	missense	probably benign	0.04
R1467:Lyrm7	UTSW	11	54,741,215 (GRCm39)	missense	probably damaging	1.00
R1519:Lyrm7	UTSW	11	54,739,425 (GRCm39)	missense	possibly damaging	0.65
R4655:Lyrm7	UTSW	11	54,739,434 (GRCm39)	missense	probably damaging	1.00
R4877:Lyrm7	UTSW	11	54,731,936 (GRCm39)	utr 3 prime	probably benign
R8253:Lyrm7	UTSW	11	54,741,227 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ACACAAGTGCAGGTGGTTCACAG -3'
(R):5'- ACTTCCATAGATTCACCGAGAAACGTG -3'

Sequencing Primer
(F):5'- CAAAGGCCTCCATTTCAACG -3'
(R):5'- tcccccacctcaccctc -3'

Posted On

2014-03-28