Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Yme1l1'

425446

Institutional Source

Beutler Lab

Gene Symbol

Yme1l1

Ensembl Gene

ENSMUSG00000026775

Gene Name

YME1-like 1 (S. cerevisiae)

Synonyms

Ftsh, ATP-dependent metalloprotease FtsH1

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23046517-23089272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23083246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 571 (G571R)

Ref Sequence

ENSEMBL: ENSMUSP00000028117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028117]

AlphaFold

O88967

Predicted Effect

probably damaging
Transcript: ENSMUST00000028117
AA Change: G571R

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

SMART Domains

Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: G571R

Domain	Start	End	E-Value	Type
AAA	313	450	4.77e-23	SMART
Pfam:Peptidase_M41	508	706	5.8e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134342

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795 (GRCm39)	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,644,559 (GRCm39)	V148E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,485,536 (GRCm39)	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900 (GRCm39)		probably benign	Het
Arrb2	T	C	11: 70,329,484 (GRCm39)	S265P	probably damaging	Het
Baiap2	T	C	11: 119,887,496 (GRCm39)	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,103 (GRCm39)	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907 (GRCm39)	V96F	probably damaging	Het
Cenpe	T	C	3: 134,965,149 (GRCm39)		probably null	Het
Crocc2	C	A	1: 93,143,363 (GRCm39)	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,289,546 (GRCm39)	C61*	probably null	Het
Dazl	T	C	17: 50,595,718 (GRCm39)	I56V	probably benign	Het
Dnah12	A	T	14: 26,456,904 (GRCm39)	D890V	probably damaging	Het
Dnah9	C	A	11: 65,986,140 (GRCm39)	E1165*	probably null	Het
Dnmt3l	T	A	10: 77,892,665 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,739,960 (GRCm39)	N62S	possibly damaging	Het
Entr1	T	C	2: 26,275,559 (GRCm39)	D244G	probably damaging	Het
Fam216b	T	A	14: 78,322,503 (GRCm39)	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,481,954 (GRCm39)	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Gvin3	T	C	7: 106,197,442 (GRCm39)		noncoding transcript	Het
Igf2r	T	C	17: 12,944,303 (GRCm39)	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,512,413 (GRCm39)	F20L	probably benign	Het
Klhl5	T	A	5: 65,298,625 (GRCm39)	L135M	possibly damaging	Het
Klk1b16	A	T	7: 43,790,412 (GRCm39)	M196L	possibly damaging	Het
Ltf	T	C	9: 110,858,719 (GRCm39)	M489T	possibly damaging	Het
Mctp2	G	T	7: 71,863,835 (GRCm39)	R343S	possibly damaging	Het
Nbas	T	A	12: 13,584,578 (GRCm39)		probably null	Het
Ncr1	A	T	7: 4,343,932 (GRCm39)	M177L	probably benign	Het
Net1	C	T	13: 3,936,170 (GRCm39)	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000 (GRCm39)	F375L	probably damaging	Het
Notch3	T	A	17: 32,358,163 (GRCm39)	I1687L	probably benign	Het
Obsl1	A	T	1: 75,479,905 (GRCm39)		probably benign	Het
Or2ag16	A	T	7: 106,352,290 (GRCm39)	F102I	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Or51v14	G	T	7: 103,260,797 (GRCm39)	Y254*	probably null	Het
Or5g23	A	G	2: 85,438,627 (GRCm39)	F209S	probably benign	Het
Or5j3	G	A	2: 86,128,561 (GRCm39)	V134M	possibly damaging	Het
Or5p79	A	C	7: 108,221,924 (GRCm39)	I302L	probably damaging	Het
Orai1	A	T	5: 123,167,564 (GRCm39)	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,899,785 (GRCm39)	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,654,998 (GRCm39)	T199K	probably damaging	Het
Prkd1	T	A	12: 50,389,920 (GRCm39)	I819F	probably damaging	Het
Ptpn9	T	C	9: 56,964,121 (GRCm39)		probably benign	Het
Rabl6	T	C	2: 25,478,666 (GRCm39)	E255G	probably damaging	Het
Sema3e	T	C	5: 14,286,099 (GRCm39)		probably benign	Het
Serpina3c	T	C	12: 104,115,699 (GRCm39)	M282V	possibly damaging	Het
Slco1a7	A	G	6: 141,686,193 (GRCm39)	F216L	probably benign	Het
Slco2b1	A	G	7: 99,335,132 (GRCm39)	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,916,309 (GRCm39)		noncoding transcript	Het
Slco6d1	A	T	1: 98,371,369 (GRCm39)	I285F	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Sp9	C	A	2: 73,104,641 (GRCm39)	N398K	probably damaging	Het
Sycp2	A	C	2: 178,019,495 (GRCm39)		probably null	Het
Tbc1d23	T	C	16: 57,019,291 (GRCm39)	D219G	probably damaging	Het
Tdpoz3	A	G	3: 93,734,179 (GRCm39)	R285G	probably benign	Het
Trim2	T	A	3: 84,074,960 (GRCm39)	Q694L	probably null	Het
Trim23	T	A	13: 104,328,541 (GRCm39)	V293D	probably damaging	Het
Ttn	A	G	2: 76,665,183 (GRCm39)		probably benign	Het
Vmn2r12	T	A	5: 109,238,261 (GRCm39)	Y493F	probably benign	Het
Vps41	T	A	13: 19,046,708 (GRCm39)	I753N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp322a	A	T	13: 23,541,149 (GRCm39)	C198S	probably damaging	Het

Other mutations in Yme1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Yme1l1	APN	2	23,082,512 (GRCm39)	missense	probably benign	0.00
IGL01764:Yme1l1	APN	2	23,052,556 (GRCm39)	missense	probably benign	0.00
IGL03289:Yme1l1	APN	2	23,050,280 (GRCm39)	missense	probably benign
R0043:Yme1l1	UTSW	2	23,077,815 (GRCm39)	missense	probably damaging	0.97
R0540:Yme1l1	UTSW	2	23,082,527 (GRCm39)	missense	possibly damaging	0.68
R0583:Yme1l1	UTSW	2	23,076,262 (GRCm39)	missense	probably damaging	1.00
R0661:Yme1l1	UTSW	2	23,081,054 (GRCm39)	missense	probably damaging	0.96
R0673:Yme1l1	UTSW	2	23,058,300 (GRCm39)	missense	probably benign	0.03
R2154:Yme1l1	UTSW	2	23,052,520 (GRCm39)	missense	probably damaging	0.99
R2241:Yme1l1	UTSW	2	23,086,912 (GRCm39)	nonsense	probably null
R2270:Yme1l1	UTSW	2	23,065,232 (GRCm39)	missense	possibly damaging	0.53
R2345:Yme1l1	UTSW	2	23,084,798 (GRCm39)	missense	probably damaging	1.00
R3837:Yme1l1	UTSW	2	23,081,092 (GRCm39)	missense	possibly damaging	0.69
R4344:Yme1l1	UTSW	2	23,063,073 (GRCm39)	missense	probably benign	0.02
R4368:Yme1l1	UTSW	2	23,050,223 (GRCm39)	missense	possibly damaging	0.81
R4412:Yme1l1	UTSW	2	23,065,199 (GRCm39)	missense	probably damaging	1.00
R4470:Yme1l1	UTSW	2	23,076,344 (GRCm39)	critical splice donor site	probably null
R4472:Yme1l1	UTSW	2	23,076,344 (GRCm39)	critical splice donor site	probably null
R4934:Yme1l1	UTSW	2	23,058,333 (GRCm39)	nonsense	probably null
R5033:Yme1l1	UTSW	2	23,084,759 (GRCm39)	missense	probably damaging	1.00
R5388:Yme1l1	UTSW	2	23,052,569 (GRCm39)	missense	probably benign	0.01
R5943:Yme1l1	UTSW	2	23,058,342 (GRCm39)	missense	probably damaging	0.96
R5947:Yme1l1	UTSW	2	23,085,318 (GRCm39)	intron	probably benign
R6243:Yme1l1	UTSW	2	23,083,184 (GRCm39)	missense	probably benign	0.00
R6724:Yme1l1	UTSW	2	23,084,774 (GRCm39)	missense	probably damaging	1.00
R6891:Yme1l1	UTSW	2	23,085,401 (GRCm39)	missense	probably damaging	0.99
R7016:Yme1l1	UTSW	2	23,076,367 (GRCm39)	splice site	probably null
R7565:Yme1l1	UTSW	2	23,050,232 (GRCm39)	missense	possibly damaging	0.88
R7589:Yme1l1	UTSW	2	23,050,274 (GRCm39)	missense	probably benign	0.01
R7751:Yme1l1	UTSW	2	23,077,856 (GRCm39)	critical splice donor site	probably null
R7871:Yme1l1	UTSW	2	23,071,077 (GRCm39)	missense	probably damaging	1.00
R7909:Yme1l1	UTSW	2	23,084,769 (GRCm39)	missense	probably benign	0.00
R8203:Yme1l1	UTSW	2	23,054,538 (GRCm39)	missense	probably benign	0.00
R8329:Yme1l1	UTSW	2	23,054,597 (GRCm39)	nonsense	probably null
R8474:Yme1l1	UTSW	2	23,052,584 (GRCm39)	missense	probably benign
R8746:Yme1l1	UTSW	2	23,052,543 (GRCm39)	missense	probably benign	0.05
R9154:Yme1l1	UTSW	2	23,077,815 (GRCm39)	missense	probably damaging	1.00
R9159:Yme1l1	UTSW	2	23,063,058 (GRCm39)	missense	probably damaging	1.00
R9361:Yme1l1	UTSW	2	23,081,063 (GRCm39)	missense	possibly damaging	0.93
Z1176:Yme1l1	UTSW	2	23,083,196 (GRCm39)	missense	probably damaging	0.98
Z1176:Yme1l1	UTSW	2	23,052,529 (GRCm39)	missense	probably damaging	0.96
Z1177:Yme1l1	UTSW	2	23,076,889 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTACCATATGCAGCCTATACTGG -3'
(R):5'- TTCCAAGCACAGTAATGGGAGG -3'

Sequencing Primer
(F):5'- CCATATGCAGCCTATACTGGGTATG -3'
(R):5'- CTGCATATGCCAGCAAGATTTGG -3'

Posted On

2016-08-04