Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Yme1l1'

472208

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

044138-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23046517-23089272 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 23085318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028117 (fasta)

Gene Model

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

AlphaFold

O88967

Predicted Effect

probably benign
Transcript: ENSMUST00000028117

SMART Domains

Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,694,737 (GRCm39)		probably null	Het
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Esrp2	T	G	8: 106,859,565 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Itga5	A	T	15: 103,265,212 (GRCm39)	W232R	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rpf1	A	G	3: 146,212,299 (GRCm39)	F347S	probably damaging	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trim65	T	C	11: 116,019,108 (GRCm39)	R144G	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
R5389:Yme1l1	UTSW	2	23,083,246 (GRCm39)	missense	probably damaging	1.00
R5943:Yme1l1	UTSW	2	23,058,342 (GRCm39)	missense	probably damaging	0.96
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'- GCTAGGGTTTTCTGAGAAGACAC -3'
(R):5'- ACACACTCAGTATGTCTTTGCC -3'

Sequencing Primer
(F):5'- GGTTTTCTGAGAAGACACTTAAAAGG -3'
(R):5'- GGGATTAAACCCCAAGGCATTTC -3'

Posted On

2017-03-31