Mutagenetix > Incidental Mutation

Incidental Mutation 'R4472:Yme1l1'

330383

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

041729-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4472 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23046517-23089272 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 23076344 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 null
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

Meta Mutation Damage Score

0.9592

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (66/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	T	9: 39,961,994 (GRCm39)		noncoding transcript	Het
Accsl	T	A	2: 93,694,336 (GRCm39)		probably null	Het
Accsl	G	T	2: 93,694,337 (GRCm39)		probably null	Het
Adcy1	G	A	11: 7,080,369 (GRCm39)	V371M	probably damaging	Het
Adgrb2	C	T	4: 129,902,146 (GRCm39)	A509V	probably benign	Het
Adgrg6	T	A	10: 14,312,525 (GRCm39)	Q754L	probably damaging	Het
Agap2	T	C	10: 126,927,082 (GRCm39)	I1008T	probably damaging	Het
Aph1c	T	G	9: 66,735,051 (GRCm39)	H150P	probably damaging	Het
Atcay	T	C	10: 81,048,361 (GRCm39)	R242G	possibly damaging	Het
Atg2a	G	A	19: 6,308,985 (GRCm39)	V1724M	probably damaging	Het
Bbs12	T	C	3: 37,373,369 (GRCm39)	V54A	possibly damaging	Het
Card14	A	G	11: 119,224,784 (GRCm39)	M604V	possibly damaging	Het
Cd28	A	T	1: 60,802,393 (GRCm39)	H104L	probably benign	Het
Cntn5	A	T	9: 10,048,776 (GRCm39)	D262E	probably damaging	Het
Col6a3	A	G	1: 90,749,736 (GRCm39)	V366A	probably benign	Het
Csnk1d	G	A	11: 120,855,800 (GRCm39)		probably benign	Het
Dcaf11	T	A	14: 55,803,063 (GRCm39)		probably benign	Het
Dpy19l4	G	A	4: 11,304,053 (GRCm39)	T119M	possibly damaging	Het
Eif3f	T	C	7: 108,540,153 (GRCm39)	V316A	possibly damaging	Het
Fbrsl1	G	A	5: 110,526,932 (GRCm39)		probably benign	Het
Fbxo10	C	T	4: 45,043,693 (GRCm39)	R710H	probably damaging	Het
Fbxw9	G	A	8: 85,786,829 (GRCm39)	D25N	probably damaging	Het
Gm14295	C	T	2: 176,501,386 (GRCm39)	T292I	possibly damaging	Het
Gm4884	C	G	7: 40,692,687 (GRCm39)	Q219E	probably benign	Het
Gpr150	A	G	13: 76,204,273 (GRCm39)	V224A	probably benign	Het
Hps1	A	T	19: 42,750,935 (GRCm39)	I355N	probably damaging	Het
Lmbr1l	A	G	15: 98,804,178 (GRCm39)	S374P	probably benign	Het
Macf1	A	T	4: 123,289,782 (GRCm39)	N5458K	probably damaging	Het
Man1b1	C	G	2: 25,222,867 (GRCm39)		probably benign	Het
Morc3	A	G	16: 93,671,645 (GRCm39)		probably null	Het
Mrgpra4	T	C	7: 47,631,539 (GRCm39)	T21A	probably benign	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Nkain4	C	G	2: 180,596,415 (GRCm39)	M1I	probably null	Het
Nktr	T	C	9: 121,577,962 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,171,515 (GRCm39)	S276P	probably damaging	Het
Oas2	A	T	5: 120,879,220 (GRCm39)	D373E	possibly damaging	Het
Or8g37	T	A	9: 39,731,870 (GRCm39)	*312R	probably null	Het
Oser1	T	A	2: 163,257,500 (GRCm39)	E11V	probably null	Het
Oser1	C	T	2: 163,257,501 (GRCm39)	E11K	probably damaging	Het
Pacsin3	A	G	2: 91,093,288 (GRCm39)		probably null	Het
Pcdh20	T	C	14: 88,706,434 (GRCm39)	S289G	probably benign	Het
Phlpp1	A	G	1: 106,314,176 (GRCm39)	D1183G	probably damaging	Het
Pign	T	C	1: 105,575,945 (GRCm39)	K232E	probably benign	Het
Polk	A	G	13: 96,630,413 (GRCm39)	S383P	probably damaging	Het
Prom2	C	A	2: 127,382,111 (GRCm39)	R101L	probably benign	Het
Rest	T	C	5: 77,429,027 (GRCm39)	V482A	probably benign	Het
Rexo1	A	T	10: 80,378,492 (GRCm39)	S476T	probably damaging	Het
Rnf31	T	A	14: 55,840,777 (GRCm39)	Y1015N	probably damaging	Het
Spata3	T	C	1: 85,954,152 (GRCm39)	Y305H	probably benign	Het
Sv2a	G	A	3: 96,099,810 (GRCm39)	V587M	probably benign	Het
Synj1	A	G	16: 90,766,069 (GRCm39)		probably null	Het
Syt17	A	G	7: 118,036,040 (GRCm39)		probably null	Het
Taf2	T	C	15: 54,922,276 (GRCm39)	D337G	possibly damaging	Het
Tcaf1	A	C	6: 42,656,248 (GRCm39)	S243A	probably benign	Het
Tmem9	A	G	1: 135,955,234 (GRCm39)	T123A	probably benign	Het
Trav4-4-dv10	T	C	14: 53,921,187 (GRCm39)		probably benign	Het
Trbv15	G	A	6: 41,118,493 (GRCm39)	R83Q	probably damaging	Het
Trim27	A	G	13: 21,374,056 (GRCm39)	I268V	probably benign	Het
Tubgcp6	T	A	15: 88,987,857 (GRCm39)	S1031C	probably damaging	Het
Vmn1r89	C	A	7: 12,953,799 (GRCm39)	H110Q	probably benign	Het
Vmn2r30	T	C	7: 7,320,091 (GRCm39)	N545S	probably damaging	Het
Wls	G	A	3: 159,603,020 (GRCm39)	M144I	probably benign	Het
Zeb2	A	T	2: 44,913,023 (GRCm39)	L56Q	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
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
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'- AGCAGTGAGTATTTGTGATAGAGC -3'
(R):5'- ACGGGCTTGAGTTCAATTCC -3'

Sequencing Primer
(F):5'- ATTTGTGATAGAGCTTCTTATTGAGG -3'
(R):5'- CCCCCAAAAAGGTAGAGGA -3'

Posted On

2015-07-21