Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Mrpl44'

40950

Institutional Source

Beutler Lab

Gene Symbol

Mrpl44

Ensembl Gene

ENSMUSG00000026248

Gene Name

mitochondrial ribosomal protein L44

Synonyms

5730593H20Rik, 1810030E18Rik

MMRRC Submission

038348-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79753735-79759162 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79757212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 219 (L219S)

Ref Sequence

ENSEMBL: ENSMUSP00000027464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027464] [ENSMUST00000143368]

AlphaFold

Q9CY73

Predicted Effect

probably damaging
Transcript: ENSMUST00000027464
AA Change: L219S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027464
Gene: ENSMUSG00000026248
AA Change: L219S

Domain	Start	End	E-Value	Type
low complexity region	13	29	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
PDB:4CE4\|H	67	333	1e-160	PDB
SCOP:d1jfza_	72	224	5e-23	SMART
Blast:RIBOc	86	228	2e-90	BLAST
Blast:DSRM	237	288	6e-8	BLAST
SCOP:d1di2a_	237	304	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143368

SMART Domains

Protein: ENSMUSP00000123303
Gene: ENSMUSG00000073643

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
Blast:WD40	145	182	6e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189176

Meta Mutation Damage Score

0.9369

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,420 (GRCm39)	V3568E	probably damaging	Het
Alpi	T	C	1: 87,027,487 (GRCm39)	E293G	possibly damaging	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Bpnt1	G	A	1: 185,073,413 (GRCm39)		probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Cdh17	A	G	4: 11,785,186 (GRCm39)	Y326C	possibly damaging	Het
Cgn	A	T	3: 94,669,899 (GRCm39)	D1080E	possibly damaging	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Csf2ra	A	G	19: 61,215,035 (GRCm39)	L143P	probably damaging	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dll1	A	T	17: 15,589,216 (GRCm39)	H486Q	probably damaging	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Entpd3	T	A	9: 120,386,608 (GRCm39)	N196K	probably damaging	Het
Fam53a	C	A	5: 33,765,076 (GRCm39)	G210V	probably damaging	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	T	A	2: 82,806,952 (GRCm39)	D1090E	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gata3	G	A	2: 9,863,258 (GRCm39)	P419S	probably damaging	Het
Gm7247	T	A	14: 51,807,057 (GRCm39)		probably benign	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Itprid1	T	C	6: 55,849,457 (GRCm39)		probably benign	Het
Kank2	G	A	9: 21,685,970 (GRCm39)	R635*	probably null	Het
Kcnj16	G	T	11: 110,915,549 (GRCm39)	W70C	probably damaging	Het
Kpna6	T	C	4: 129,551,251 (GRCm39)	M85V	probably benign	Het
Kri1	G	A	9: 21,186,661 (GRCm39)	S447L	probably damaging	Het
L2hgdh	G	A	12: 69,768,105 (GRCm39)	P131L	possibly damaging	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mdc1	A	G	17: 36,159,925 (GRCm39)	T678A	probably benign	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Nsl1	T	C	1: 190,814,381 (GRCm39)	L194P	probably damaging	Het
Or4k39	G	A	2: 111,239,140 (GRCm39)	G127S	probably benign	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Pramel25	T	A	4: 143,521,572 (GRCm39)	L396H	probably damaging	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rab3d	A	T	9: 21,827,222 (GRCm39)	S3T	possibly damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Scd3	A	G	19: 44,204,076 (GRCm39)	Y88C	probably damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Slc5a4a	A	G	10: 76,014,031 (GRCm39)	I413V	probably null	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Spata31d1c	A	G	13: 65,180,876 (GRCm39)		probably benign	Het
Speer2	G	A	16: 69,655,640 (GRCm39)	T62M	probably damaging	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim43c	A	T	9: 88,729,568 (GRCm39)	K336N	probably damaging	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttc21a	C	A	9: 119,773,006 (GRCm39)	Q228K	probably damaging	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Vmn1r167	T	G	7: 23,204,334 (GRCm39)	R227S	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,984 (GRCm39)	I56L	probably benign	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	probably damaging	Het

Other mutations in Mrpl44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Mrpl44	APN	1	79,758,721 (GRCm39)	missense	probably benign	0.01
IGL02633:Mrpl44	APN	1	79,753,862 (GRCm39)	missense	probably benign	0.02
R0054:Mrpl44	UTSW	1	79,757,212 (GRCm39)	missense	probably damaging	1.00
R0909:Mrpl44	UTSW	1	79,757,370 (GRCm39)	missense	probably benign	0.43
R1180:Mrpl44	UTSW	1	79,755,677 (GRCm39)	missense	probably damaging	0.99
R1347:Mrpl44	UTSW	1	79,755,669 (GRCm39)	missense	probably damaging	1.00
R1347:Mrpl44	UTSW	1	79,755,669 (GRCm39)	missense	probably damaging	1.00
R1448:Mrpl44	UTSW	1	79,755,677 (GRCm39)	missense	probably damaging	0.99
R3689:Mrpl44	UTSW	1	79,757,366 (GRCm39)	nonsense	probably null
R3690:Mrpl44	UTSW	1	79,757,366 (GRCm39)	nonsense	probably null
R4533:Mrpl44	UTSW	1	79,753,971 (GRCm39)	missense	possibly damaging	0.91
R4818:Mrpl44	UTSW	1	79,758,694 (GRCm39)	missense	probably benign	0.00
R4893:Mrpl44	UTSW	1	79,755,582 (GRCm39)	missense	probably damaging	0.97
R6178:Mrpl44	UTSW	1	79,755,895 (GRCm39)	missense	possibly damaging	0.76
R8713:Mrpl44	UTSW	1	79,755,708 (GRCm39)	missense	probably damaging	1.00
R8795:Mrpl44	UTSW	1	79,753,974 (GRCm39)	missense	probably damaging	0.99
X0018:Mrpl44	UTSW	1	79,755,792 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACAACAGCCTATGAGGACATCCAGG -3'
(R):5'- AAGGCAGAGCAGTTGTGCTTCC -3'

Sequencing Primer
(F):5'- CATCCAGGTATAACTCTGGTAGAGTG -3'
(R):5'- AGTTGTGCTTCCAGACTGC -3'

Posted On

2013-05-23