Mutagenetix > Incidental Mutation

Incidental Mutation 'R2209:Mrpl38'

239269

Institutional Source

Beutler Lab

Gene Symbol

Mrpl38

Ensembl Gene

ENSMUSG00000020775

Gene Name

mitochondrial ribosomal protein L38

Synonyms

Rpml3, 1110036N21Rik, 4733401F03Rik, MRP-L3

MMRRC Submission

040211-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.935) question?

Stock #

R2209 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

116022643-116029694 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116029288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 76 (E76G)

Ref Sequence

ENSEMBL: ENSMUSP00000102047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103031] [ENSMUST00000106435] [ENSMUST00000106439]

AlphaFold

Q8K2M0

Predicted Effect

probably benign
Transcript: ENSMUST00000103031

SMART Domains

Protein: ENSMUSP00000099320
Gene: ENSMUSG00000020776

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
coiled coil region	617	745	N/A	INTRINSIC
SCOP:d1sig__	808	975	9e-3	SMART
low complexity region	976	1005	N/A	INTRINSIC
low complexity region	1031	1068	N/A	INTRINSIC
low complexity region	1110	1130	N/A	INTRINSIC
low complexity region	1131	1146	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106435

SMART Domains

Protein: ENSMUSP00000102043
Gene: ENSMUSG00000020776

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	151	164	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
coiled coil region	617	745	N/A	INTRINSIC
SCOP:d1sig__	808	975	9e-3	SMART
low complexity region	976	1005	N/A	INTRINSIC
low complexity region	1031	1068	N/A	INTRINSIC
low complexity region	1110	1130	N/A	INTRINSIC
low complexity region	1131	1146	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106439
AA Change: E76G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102047
Gene: ENSMUSG00000020775
AA Change: E76G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142550

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,884,227 (GRCm39)	E330G	possibly damaging	Het
Apob	A	C	12: 8,057,752 (GRCm39)	D2078A	probably benign	Het
Arhgap21	T	A	2: 20,854,331 (GRCm39)	Q1681L	probably damaging	Het
Arsb	A	G	13: 93,998,609 (GRCm39)	T306A	probably benign	Het
Brpf3	G	A	17: 29,047,394 (GRCm39)	D1053N	probably damaging	Het
Cenpf	A	T	1: 189,384,795 (GRCm39)	I2495N	probably benign	Het
Col12a1	T	C	9: 79,599,634 (GRCm39)	K840E	possibly damaging	Het
Cry1	A	G	10: 84,982,619 (GRCm39)	L269P	probably damaging	Het
Cyp21a1	C	A	17: 35,021,701 (GRCm39)	E289*	probably null	Het
Dcp2	A	T	18: 44,538,581 (GRCm39)	K215*	probably null	Het
Dnaaf11	A	G	15: 66,321,400 (GRCm39)	I247T	probably benign	Het
Ecm2	A	G	13: 49,683,632 (GRCm39)	N537D	probably damaging	Het
Emid1	G	A	11: 5,085,407 (GRCm39)	T113M	probably benign	Het
Exoc8	C	T	8: 125,622,918 (GRCm39)	W483*	probably null	Het
Fes	A	T	7: 80,030,031 (GRCm39)	N582K	probably damaging	Het
Flnb	G	T	14: 7,905,507 (GRCm38)	E1086*	probably null	Het
Flnc	T	A	6: 29,455,844 (GRCm39)	D2058E	possibly damaging	Het
Gatb	G	A	3: 85,561,112 (GRCm39)	D543N	probably benign	Het
Gm14412	A	G	2: 177,009,229 (GRCm39)	V9A	probably damaging	Het
Gm4884	T	C	7: 40,692,745 (GRCm39)	V238A	possibly damaging	Het
Igfbp5	A	G	1: 72,913,096 (GRCm39)	V68A	possibly damaging	Het
Igflr1	T	A	7: 30,267,222 (GRCm39)	I330N	probably damaging	Het
Il1r2	A	G	1: 40,154,298 (GRCm39)	T222A	probably benign	Het
Krt87	T	C	15: 101,330,989 (GRCm39)	E419G	probably benign	Het
Lman2	A	G	13: 55,499,315 (GRCm39)	S187P	probably damaging	Het
Mtx3	A	G	13: 92,984,112 (GRCm39)	I130V	probably benign	Het
Naf1	T	G	8: 67,313,188 (GRCm39)		probably benign	Het
Nkx2-1	T	G	12: 56,580,293 (GRCm39)	M216L	probably benign	Het
Notch1	C	A	2: 26,350,019 (GRCm39)	V2374L	probably benign	Het
Nrxn2	A	G	19: 6,543,037 (GRCm39)	D1087G	probably benign	Het
Nudt8	T	C	19: 4,051,902 (GRCm39)	F171S	probably damaging	Het
Or5an1	T	G	19: 12,261,224 (GRCm39)	F271V	probably benign	Het
Pds5a	A	T	5: 65,785,357 (GRCm39)	C916*	probably null	Het
Phyhip	A	T	14: 70,699,334 (GRCm39)	N46Y	probably damaging	Het
Pomt1	A	G	2: 32,140,874 (GRCm39)	Y502C	possibly damaging	Het
Prkcg	A	C	7: 3,352,097 (GRCm39)		probably benign	Het
Prl8a6	C	T	13: 27,619,369 (GRCm39)	E118K	probably benign	Het
Prpf39	T	C	12: 65,104,689 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,205,262 (GRCm39)	H2159R	probably damaging	Het
Ripor2	A	T	13: 24,885,595 (GRCm39)	D571V	probably damaging	Het
Rps19	C	T	7: 24,584,552 (GRCm39)	L34F	probably benign	Het
Rusc1	A	G	3: 88,996,128 (GRCm39)	S145P	probably damaging	Het
Scn4a	T	A	11: 106,230,051 (GRCm39)	T586S	probably damaging	Het
Slc7a12	A	G	3: 14,546,124 (GRCm39)	S90G	possibly damaging	Het
Specc1l	A	G	10: 75,082,410 (GRCm39)	D619G	probably damaging	Het
Src	A	G	2: 157,304,710 (GRCm39)	D143G	probably benign	Het
Sst	T	C	16: 23,708,558 (GRCm39)	N91S	probably benign	Het
Stxbp5l	T	A	16: 37,036,398 (GRCm39)	I406F	probably damaging	Het
Thsd1	T	A	8: 22,748,887 (GRCm39)	I525N	probably damaging	Het
Ticam2	A	T	18: 46,693,467 (GRCm39)	F207I	probably damaging	Het
Tsc22d1	C	A	14: 76,656,180 (GRCm39)	N31K	probably damaging	Het
Tspan10	T	C	11: 120,336,989 (GRCm39)	V253A	probably benign	Het
Ttc33	A	G	15: 5,237,924 (GRCm39)	K99R	possibly damaging	Het
Vmn1r63	T	A	7: 5,806,212 (GRCm39)	N140I	probably damaging	Het
Yju2b	C	T	8: 84,990,498 (GRCm39)	V45I	probably benign	Het
Zbtb25	A	G	12: 76,395,903 (GRCm39)	*440Q	probably null	Het
Zfhx4	T	A	3: 5,461,978 (GRCm39)	C1218S	probably damaging	Het
Zfp84	T	A	7: 29,476,607 (GRCm39)	I433N	probably damaging	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
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
R7701:Mrpl38	UTSW	11	116,026,104 (GRCm39)	missense	probably benign	0.00
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'- TTCAAACAATGCATCTTTACTACCC -3'
(R):5'- GAGCTCTTGGGCCTCTGTAG -3'

Sequencing Primer
(F):5'- CTCCTAAACGCTGCGATTAAGTG -3'
(R):5'- TCCTAAGCCTGCGTGACGTC -3'

Posted On

2014-10-15