Mutagenetix > Incidental Mutations

Incidental Mutation 'R7565:Yme1l1'

585351

Institutional Source

Beutler Lab

Gene Symbol

Yme1l1

Ensembl Gene

ENSMUSG00000026775

Gene Name

YME1-like 1 (S. cerevisiae)

Synonyms

ATP-dependent metalloprotease FtsH1, Ftsh

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7565 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

23156369-23199260 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23160220 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 21 (N21I)

Ref Sequence

ENSEMBL: ENSMUSP00000028117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028117] [ENSMUST00000028119]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028117
AA Change: N21I

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: N21I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028119

SMART Domains

Protein: ENSMUSP00000028119
Gene: ENSMUSG00000026779

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:Pkinase_Tyr	34	194	2.6e-24	PFAM
Pfam:Pkinase	34	200	2.3e-39	PFAM
low complexity region	297	313	N/A	INTRINSIC
Pfam:Pkinase	710	821	6.4e-19	PFAM
Pfam:Pkinase_Tyr	714	818	5.1e-6	PFAM
S_TK_X	822	864	2.01e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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 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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	Het

Other mutations in Yme1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Yme1l1	APN	2	23192500	missense	probably benign	0.00
IGL01764:Yme1l1	APN	2	23162544	missense	probably benign	0.00
IGL03289:Yme1l1	APN	2	23160268	missense	probably benign
R0043:Yme1l1	UTSW	2	23187803	missense	probably damaging	0.97
R0540:Yme1l1	UTSW	2	23192515	missense	possibly damaging	0.68
R0583:Yme1l1	UTSW	2	23186250	missense	probably damaging	1.00
R0661:Yme1l1	UTSW	2	23191042	missense	probably damaging	0.96
R0673:Yme1l1	UTSW	2	23168288	missense	probably benign	0.03
R2154:Yme1l1	UTSW	2	23162508	missense	probably damaging	0.99
R2241:Yme1l1	UTSW	2	23196900	nonsense	probably null
R2270:Yme1l1	UTSW	2	23175220	missense	possibly damaging	0.53
R2345:Yme1l1	UTSW	2	23194786	missense	probably damaging	1.00
R3837:Yme1l1	UTSW	2	23191080	missense	possibly damaging	0.69
R4344:Yme1l1	UTSW	2	23173061	missense	probably benign	0.02
R4368:Yme1l1	UTSW	2	23160211	missense	possibly damaging	0.81
R4412:Yme1l1	UTSW	2	23175187	missense	probably damaging	1.00
R4470:Yme1l1	UTSW	2	23186332	critical splice donor site	probably null
R4472:Yme1l1	UTSW	2	23186332	critical splice donor site	probably null
R4934:Yme1l1	UTSW	2	23168321	nonsense	probably null
R5033:Yme1l1	UTSW	2	23194747	missense	probably damaging	1.00
R5388:Yme1l1	UTSW	2	23162557	missense	probably benign	0.01
R5389:Yme1l1	UTSW	2	23193234	missense	probably damaging	1.00
R5943:Yme1l1	UTSW	2	23168330	missense	probably damaging	0.96
R5947:Yme1l1	UTSW	2	23195306	intron	probably benign
R6243:Yme1l1	UTSW	2	23193172	missense	probably benign	0.00
R6724:Yme1l1	UTSW	2	23194762	missense	probably damaging	1.00
R6891:Yme1l1	UTSW	2	23195389	missense	probably damaging	0.99
R7016:Yme1l1	UTSW	2	23186355	splice site	probably null
R7589:Yme1l1	UTSW	2	23160262	missense	probably benign	0.01
R7751:Yme1l1	UTSW	2	23187844	critical splice donor site	probably null
R7871:Yme1l1	UTSW	2	23181065	missense	probably damaging	1.00
R7909:Yme1l1	UTSW	2	23194757	missense	probably benign	0.00
R8203:Yme1l1	UTSW	2	23164526	missense	probably benign	0.00
R8329:Yme1l1	UTSW	2	23164585	nonsense	probably null
Z1176:Yme1l1	UTSW	2	23162517	missense	probably damaging	0.96
Z1176:Yme1l1	UTSW	2	23193184	missense	probably damaging	0.98
Z1177:Yme1l1	UTSW	2	23186877	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCAGCCTCGCCATAATTTTG -3'
(R):5'- GCCAGAATTAGCTGCCTTTAATTAC -3'

Sequencing Primer
(F):5'- CGCCATAATTTTGACATCTGGTG -3'
(R):5'- GCTGCCTTTAATTACAAAGATAAGC -3'

Posted On

2019-10-17