Mutagenetix > Incidental Mutation

Incidental Mutation 'R4222:Mrpl22'

319412

Institutional Source

Beutler Lab

Gene Symbol

Mrpl22

Ensembl Gene

ENSMUSG00000020514

Gene Name

mitochondrial ribosomal protein L22

Synonyms

HSPC158, E030011D16Rik, Rpml25, MRP-L25

MMRRC Submission

041042-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4222 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

58062487-58070391 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 58062693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020820] [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]

AlphaFold

Q8BU88

Predicted Effect

probably benign
Transcript: ENSMUST00000020820

SMART Domains

Protein: ENSMUSP00000020820
Gene: ENSMUSG00000020514

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Ribosomal_L22	70	173	6.8e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000035604

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102711

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1063	1083	N/A	INTRINSIC
low complexity region	1116	1131	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140997

Predicted Effect

probably benign
Transcript: ENSMUST00000172035

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

91% (49/54)

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 that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	G	17: 56,092,121 (GRCm39)	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Alkal1	A	G	1: 6,458,839 (GRCm39)	K76R	probably damaging	Het
Atm	T	C	9: 53,391,969 (GRCm39)	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352 (GRCm39)		noncoding transcript	Het
Brd10	A	T	19: 29,696,149 (GRCm39)	S1115T	probably benign	Het
Cyp3a11	A	T	5: 145,797,276 (GRCm39)	Y368N	probably damaging	Het
Gar1	A	T	3: 129,624,455 (GRCm39)		probably benign	Het
Gm5265	A	T	1: 169,281,370 (GRCm39)		noncoding transcript	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
H1f5	A	T	13: 21,964,147 (GRCm39)		probably benign	Het
Hapln4	T	A	8: 70,539,610 (GRCm39)	W214R	probably damaging	Het
Ift56	A	G	6: 38,372,010 (GRCm39)	Y200C	probably damaging	Het
Irgq	C	A	7: 24,233,050 (GRCm39)	A297D	possibly damaging	Het
Kri1	T	C	9: 21,192,359 (GRCm39)	E145G	probably benign	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Myo7a	T	A	7: 97,722,436 (GRCm39)	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251 (GRCm39)	D172E	probably benign	Het
Nrxn3	G	T	12: 89,499,762 (GRCm39)	G718*	probably null	Het
Olfm3	C	T	3: 114,883,820 (GRCm39)	Q41*	probably null	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or8u8	G	T	2: 86,012,341 (GRCm39)	T38K	probably damaging	Het
Parm1	G	A	5: 91,741,726 (GRCm39)	M31I	probably benign	Het
Phc3	A	T	3: 30,990,968 (GRCm39)	S383R	probably damaging	Het
Pkn2	A	T	3: 142,499,627 (GRCm39)	L950*	probably null	Het
Plec	C	T	15: 76,061,519 (GRCm39)	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Ptk7	A	T	17: 46,885,389 (GRCm39)	M679K	probably benign	Het
Ptx3	C	T	3: 66,132,127 (GRCm39)	T216I	probably damaging	Het
Rrp8	T	C	7: 105,383,229 (GRCm39)	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,901,900 (GRCm39)	K17E	unknown	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Semp2l2a	T	C	8: 13,888,061 (GRCm39)	E10G	probably benign	Het
Slc25a45	A	T	19: 5,930,146 (GRCm39)	I39F	probably damaging	Het
Spag5	G	A	11: 78,195,337 (GRCm39)	V215I	probably damaging	Het
Ston1	A	G	17: 88,944,199 (GRCm39)	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,650,452 (GRCm39)	S395T	probably benign	Het
Tlr11	C	T	14: 50,599,306 (GRCm39)	P431S	probably damaging	Het
Trerf1	G	T	17: 47,625,727 (GRCm39)		noncoding transcript	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Vmn1r49	A	G	6: 90,049,228 (GRCm39)	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,626,198 (GRCm39)		noncoding transcript	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855 (GRCm39)		probably null	Het
Zfp35	T	G	18: 24,136,246 (GRCm39)	F197V	possibly damaging	Het

Other mutations in Mrpl22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Mrpl22	APN	11	58,062,670 (GRCm39)	critical splice donor site	probably null
IGL02081:Mrpl22	APN	11	58,062,647 (GRCm39)	missense	probably benign
IGL02484:Mrpl22	APN	11	58,063,888 (GRCm39)	missense	possibly damaging	0.81
R0164:Mrpl22	UTSW	11	58,062,647 (GRCm39)	missense	probably benign
R0164:Mrpl22	UTSW	11	58,062,647 (GRCm39)	missense	probably benign
R4489:Mrpl22	UTSW	11	58,063,928 (GRCm39)	missense	probably benign	0.17
R5718:Mrpl22	UTSW	11	58,068,109 (GRCm39)	missense	probably benign
R6650:Mrpl22	UTSW	11	58,066,134 (GRCm39)	missense	probably damaging	1.00
R8407:Mrpl22	UTSW	11	58,066,156 (GRCm39)	nonsense	probably null
R9171:Mrpl22	UTSW	11	58,070,185 (GRCm39)	missense	possibly damaging	0.90
R9641:Mrpl22	UTSW	11	58,068,047 (GRCm39)	missense	probably damaging	1.00
X0060:Mrpl22	UTSW	11	58,070,176 (GRCm39)	missense	probably damaging	0.99
Z1186:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1187:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1188:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1189:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1190:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1191:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown
Z1192:Mrpl22	UTSW	11	58,062,521 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTACTGCGAGAGTTGGGTAAGG -3'
(R):5'- AGTCTCCAAACAGTCCTTGC -3'

Sequencing Primer
(F):5'- AAGGCTTGAGTCTTTCTTAGAATTTG -3'
(R):5'- TGTTGGTATAGCACACAAAGTCG -3'

Posted On

2015-06-10