Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:Yme1l1'

695198

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23046517-23089272 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23077815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 419 (I419N)

Ref Sequence

ENSEMBL: ENSMUSP00000028117 (fasta)

Gene Model

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

AlphaFold

O88967

Predicted Effect

probably damaging
Transcript: ENSMUST00000028117
AA Change: I419N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: I419N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,926,926 (GRCm39)	V862A	probably benign	Het
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Fus	G	A	7: 127,580,440 (GRCm39)	G450E	unknown	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,190,793 (GRCm39)	S174T	unknown	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mpp3	T	C	11: 101,911,328 (GRCm39)	I165V		Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Septin2	T	A	1: 93,429,310 (GRCm39)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	possibly 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
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
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'- ATTTAAAGAGGAACCCGGGC -3'
(R):5'- CCTTAAGATTTTATGTCGGGGC -3'

Sequencing Primer
(F):5'- AACCCGGGCTTTTTAATGTCAG -3'
(R):5'- GGTAATTAGATCATGTTCTCCAAGCC -3'

Posted On

2022-01-20