Mutagenetix > Incidental Mutation

Incidental Mutation 'R7701:Mrpl38'

594018

Institutional Source

Beutler Lab

Gene Symbol

Mrpl38

Ensembl Gene

ENSMUSG00000020775

Gene Name

mitochondrial ribosomal protein L38

Synonyms

Rpml3, 1110036N21Rik, 4733401F03Rik, MRP-L3

MMRRC Submission

045762-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R7701 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116022643-116029694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116026104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 99 (R99W)

Ref Sequence

ENSEMBL: ENSMUSP00000102047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067632] [ENSMUST00000106439] [ENSMUST00000106440]

AlphaFold

Q8K2M0

Predicted Effect

probably benign
Transcript: ENSMUST00000067632

SMART Domains

Protein: ENSMUSP00000063410
Gene: ENSMUSG00000054517

Domain	Start	End	E-Value	Type
RING	13	51	2.47e-9	SMART
low complexity region	69	85	N/A	INTRINSIC
Blast:BBOX	94	132	3e-10	BLAST
coiled coil region	140	175	N/A	INTRINSIC
low complexity region	282	298	N/A	INTRINSIC
PRY	333	383	3.67e-3	SMART
Pfam:SPRY	386	505	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106439
AA Change: R99W

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: R99W

Domain	Start	End	E-Value	Type
low complexity region	55	67	N/A	INTRINSIC
Pfam:PBP	183	313	3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106440

SMART Domains

Protein: ENSMUSP00000102048
Gene: ENSMUSG00000054517

Domain	Start	End	E-Value	Type
RING	13	51	2.47e-9	SMART
low complexity region	69	85	N/A	INTRINSIC
Blast:BBOX	94	132	2e-10	BLAST
coiled coil region	140	175	N/A	INTRINSIC
low complexity region	282	298	N/A	INTRINSIC
PRY	333	383	3.67e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930470P17Rik	T	C	2: 170,443,225 (GRCm39)		probably benign	Het
4932414N04Rik	G	A	2: 68,561,548 (GRCm39)	V292M	possibly damaging	Het
Actn1	A	T	12: 80,221,328 (GRCm39)	V575E	possibly damaging	Het
Arhgef1	T	C	7: 24,612,003 (GRCm39)	S129P	probably benign	Het
Aup1	T	C	6: 83,032,908 (GRCm39)	V214A	probably benign	Het
Bbs10	A	G	10: 111,135,874 (GRCm39)	E329G	probably damaging	Het
Brinp2	A	G	1: 158,094,030 (GRCm39)		probably null	Het
Ccdc3	A	G	2: 5,142,868 (GRCm39)	T42A	possibly damaging	Het
Cd276	T	C	9: 58,442,810 (GRCm39)	N215S	probably benign	Het
Col24a1	T	A	3: 145,020,772 (GRCm39)	M381K	probably benign	Het
Col24a1	A	G	3: 145,072,656 (GRCm39)		probably null	Het
Col6a4	A	C	9: 105,960,087 (GRCm39)	F19V	probably benign	Het
Crybg1	G	T	10: 43,865,139 (GRCm39)	A1446E	probably benign	Het
Dach1	C	T	14: 98,140,670 (GRCm39)	R496K	probably damaging	Het
Dchs2	A	G	3: 83,253,513 (GRCm39)	T2308A	possibly damaging	Het
Duxf1	A	G	10: 58,058,885 (GRCm39)	V623A	possibly damaging	Het
Dync1h1	G	A	12: 110,585,080 (GRCm39)	D828N	probably damaging	Het
Eif2a	A	T	3: 58,459,991 (GRCm39)	H462L	possibly damaging	Het
Flot2	A	G	11: 77,928,942 (GRCm39)		probably null	Het
Gas2	T	G	7: 51,643,101 (GRCm39)	Y263*	probably null	Het
Gm5111	A	G	6: 48,567,027 (GRCm39)	I81V	unknown	Het
Iqcm	A	G	8: 76,281,539 (GRCm39)	I7M	probably benign	Het
Kank1	G	A	19: 25,389,129 (GRCm39)		probably null	Het
Lnx2	A	T	5: 146,961,333 (GRCm39)	V533E	probably damaging	Het
Mapk8ip3	G	T	17: 25,120,378 (GRCm39)	P904T	possibly damaging	Het
Mcm5	C	A	8: 75,850,551 (GRCm39)	H596N	probably benign	Het
Miip	A	T	4: 147,947,371 (GRCm39)	V237E	probably null	Het
Mob3a	G	A	10: 80,525,768 (GRCm39)	A181V	probably damaging	Het
Naa25	A	G	5: 121,564,042 (GRCm39)	T486A	probably benign	Het
Or2z9	T	A	8: 72,854,030 (GRCm39)	L142Q	probably damaging	Het
Or5b102	A	G	19: 13,041,445 (GRCm39)	I223M	probably damaging	Het
Or8g4	A	G	9: 39,662,597 (GRCm39)	Y305C	probably benign	Het
Pcdha8	A	T	18: 37,126,864 (GRCm39)	N449Y	probably damaging	Het
Pcdhb6	A	T	18: 37,467,562 (GRCm39)	D161V	probably damaging	Het
Pdlim3	A	G	8: 46,361,576 (GRCm39)	D134G	probably benign	Het
Phpt1	A	G	2: 25,464,799 (GRCm39)	V18A	probably benign	Het
Prg4	T	C	1: 150,333,293 (GRCm39)	K177E	possibly damaging	Het
Psmb1	A	G	17: 15,697,509 (GRCm39)	F202S	probably benign	Het
Rab14	A	G	2: 35,073,427 (GRCm39)	F150L		Het
Rgs14	A	G	13: 55,527,138 (GRCm39)	D169G	probably damaging	Het
Rreb1	C	T	13: 38,114,092 (GRCm39)	L484F	possibly damaging	Het
Rsph14	A	T	10: 74,793,608 (GRCm39)	Y264*	probably null	Het
Scly	T	C	1: 91,236,030 (GRCm39)	I152T		Het
Ska1	A	T	18: 74,335,714 (GRCm39)	H85Q	probably damaging	Het
Slc35b3	T	C	13: 39,128,611 (GRCm39)	M159V	probably benign	Het
Smok2b	A	G	17: 13,453,767 (GRCm39)		probably benign	Het
Spock1	G	A	13: 57,735,472 (GRCm39)	Q103*	probably null	Het
Topbp1	T	C	9: 103,210,184 (GRCm39)	V914A	probably damaging	Het
Tspan3	A	T	9: 56,054,803 (GRCm39)	Y41*	probably null	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,560,028 (GRCm39)	I29458L	possibly damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Zfat	C	A	15: 68,052,757 (GRCm39)	E346*	probably null	Het
Zfp341	T	A	2: 154,476,000 (GRCm39)		probably null	Het
Zfp54	A	G	17: 21,654,357 (GRCm39)	T284A	probably benign	Het

Other mutations in Mrpl38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Mrpl38	APN	11	116,026,140 (GRCm39)	nonsense	probably null
PIT4445001:Mrpl38	UTSW	11	116,023,384 (GRCm39)	critical splice acceptor site	probably null
R0523:Mrpl38	UTSW	11	116,022,844 (GRCm39)	missense	probably benign	0.03
R1681:Mrpl38	UTSW	11	116,029,255 (GRCm39)	splice site	probably benign
R2209:Mrpl38	UTSW	11	116,029,288 (GRCm39)	missense	possibly damaging	0.68
R2329:Mrpl38	UTSW	11	116,022,845 (GRCm39)	missense	possibly damaging	0.68
R4617:Mrpl38	UTSW	11	116,023,278 (GRCm39)	missense	probably damaging	0.98
R4700:Mrpl38	UTSW	11	116,025,978 (GRCm39)	unclassified	probably benign
R4871:Mrpl38	UTSW	11	116,025,098 (GRCm39)	missense	probably damaging	1.00
R5293:Mrpl38	UTSW	11	116,023,599 (GRCm39)	missense	probably benign	0.07
R7014:Mrpl38	UTSW	11	116,025,741 (GRCm39)	missense	probably damaging	1.00
R7268:Mrpl38	UTSW	11	116,029,396 (GRCm39)	missense	possibly damaging	0.82
R7646:Mrpl38	UTSW	11	116,023,593 (GRCm39)	missense	probably damaging	0.99
R9420:Mrpl38	UTSW	11	116,023,276 (GRCm39)	missense	probably damaging	1.00
R9649:Mrpl38	UTSW	11	116,025,900 (GRCm39)	missense	probably damaging	1.00
R9717:Mrpl38	UTSW	11	116,023,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCATAGTACTCAGCCAG -3'
(R):5'- GAGCAAAACACTTCAATCTCTTGC -3'

Sequencing Primer
(F):5'- CCAGACGCTGCTTGTGGTAG -3'
(R):5'- TCTTGCTTACACACACACGG -3'

Posted On

2019-11-12