Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Rpl38'

698466

Institutional Source

Beutler Lab

Gene Symbol

Rpl38

Ensembl Gene

ENSMUSG00000057322

Gene Name

ribosomal protein L38

Synonyms

Rbt, Ts, 0610025G13Rik, Tss

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114559350-114563157 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 114563114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 71 (*71R)

Ref Sequence

ENSEMBL: ENSMUSP00000102211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045779] [ENSMUST00000077915] [ENSMUST00000082092] [ENSMUST00000106599] [ENSMUST00000106602]

AlphaFold

Q9JJI8

Predicted Effect

probably benign
Transcript: ENSMUST00000045779

SMART Domains

Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714

Domain	Start	End	E-Value	Type
Pfam:Tweety	27	433	2.5e-184	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000077915
AA Change: *71R

SMART Domains

Protein: ENSMUSP00000102211
Gene: ENSMUSG00000057322
AA Change: *71R

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L38e	2	69	1.6e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000082092
AA Change: *71R

SMART Domains

Protein: ENSMUSP00000080741
Gene: ENSMUSG00000057322
AA Change: *71R

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L38e	2	69	1.6e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106599
AA Change: *71R

SMART Domains

Protein: ENSMUSP00000102209
Gene: ENSMUSG00000057322
AA Change: *71R

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L38e	2	69	1.6e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106602
AA Change: *71R

SMART Domains

Protein: ENSMUSP00000102213
Gene: ENSMUSG00000057322
AA Change: *71R

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L38e	2	69	3.9e-40	PFAM

Meta Mutation Damage Score

0.9659

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect growth and tail formation, and result in anterior and posterior homeotic vertebral transformations along the axial skeleton along with other abnormalities depending on genetic background. Homozygotes die in the early embryonic period. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,587,954 (GRCm39)	H341Q	probably damaging	Het
Apob	G	A	12: 8,030,635 (GRCm39)	A125T	probably damaging	Het
Bace2	G	T	16: 97,158,059 (GRCm39)	A20S	unknown	Het
Bcar1	T	C	8: 112,442,341 (GRCm39)	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,777,827 (GRCm39)	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,811,345 (GRCm39)	S223P	probably damaging	Het
Cckar	C	T	5: 53,864,587 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,861,801 (GRCm39)	N66S	probably benign	Het
Chd9	A	G	8: 91,757,270 (GRCm39)	M1890V	probably benign	Het
Col6a5	C	T	9: 105,755,837 (GRCm39)	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,224,175 (GRCm39)	M119R	unknown	Het
Cryaa	A	G	17: 31,898,642 (GRCm39)	H123R	probably damaging	Het
Cux1	A	T	5: 136,398,989 (GRCm39)	D171E	probably damaging	Het
Dgkz	T	A	2: 91,764,144 (GRCm39)	T1067S	probably benign	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,480 (GRCm39)	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,614,145 (GRCm39)	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 77,892,586 (GRCm39)		probably null	Het
Dph6	T	C	2: 114,399,995 (GRCm39)	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,473,228 (GRCm39)	D767G	probably damaging	Het
Edn3	C	T	2: 174,603,482 (GRCm39)	P77S	possibly damaging	Het
Fbln7	A	C	2: 128,737,168 (GRCm39)	S328R	probably null	Het
Fbn2	T	C	18: 58,192,428 (GRCm39)	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,013,525 (GRCm39)	T252S	probably benign	Het
Foxred2	A	G	15: 77,836,206 (GRCm39)	S384P	probably damaging	Het
Gdpd1	G	A	11: 86,936,009 (GRCm39)	H174Y	probably benign	Het
Gm10542	A	C	18: 44,337,705 (GRCm39)	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,720,307 (GRCm39)		probably benign	Het
H2-Ab1	A	G	17: 34,483,981 (GRCm39)	E114G	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Igfn1	C	T	1: 135,903,695 (GRCm39)	V348I	probably damaging	Het
Itpr1	T	A	6: 108,466,810 (GRCm39)	L2173Q	probably damaging	Het
Lamp5	A	G	2: 135,901,521 (GRCm39)	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,430,850 (GRCm39)	K400*	probably null	Het
Man2a2	C	T	7: 80,010,868 (GRCm39)	V708I	probably benign	Het
Matr3	T	C	18: 35,720,774 (GRCm39)	S746P	probably benign	Het
Me1	C	T	9: 86,480,847 (GRCm39)	V353M	probably benign	Het
Mideas	A	C	12: 84,199,661 (GRCm39)	F1020V	probably benign	Het
Nbeal1	T	A	1: 60,317,839 (GRCm39)	D1925E	probably damaging	Het
Oca2	T	A	7: 55,966,168 (GRCm39)	F387I	probably damaging	Het
Opn3	G	T	1: 175,490,655 (GRCm39)	N335K	probably benign	Het
Or5d36	T	A	2: 87,900,778 (GRCm39)	H316L	probably benign	Het
Or5k17	T	G	16: 58,746,485 (GRCm39)	I150L	probably benign	Het
Or5k17	G	T	16: 58,746,486 (GRCm39)	F149L	probably benign	Het
Or6d12	T	A	6: 116,493,315 (GRCm39)	N192K	probably benign	Het
Or6k2	T	C	1: 173,986,456 (GRCm39)	I39T	probably benign	Het
Or8b48	T	A	9: 38,493,373 (GRCm39)	S267T	probably benign	Het
Osm	A	G	11: 4,188,504 (GRCm39)	N44D	possibly damaging	Het
Otop2	T	C	11: 115,219,912 (GRCm39)	Y251H	probably damaging	Het
Pappa	T	C	4: 65,074,612 (GRCm39)	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,038,068 (GRCm39)	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,814,276 (GRCm39)	V726M	probably benign	Het
Pzp	T	A	6: 128,473,626 (GRCm39)	D731V	probably benign	Het
Rgl2	A	T	17: 34,155,002 (GRCm39)	I669F	probably damaging	Het
Rufy1	G	A	11: 50,289,301 (GRCm39)	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,083,741 (GRCm39)		probably benign	Het
Scn9a	T	G	2: 66,363,657 (GRCm39)	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,238,951 (GRCm39)	S85P	probably benign	Het
Slc17a1	A	G	13: 24,062,794 (GRCm39)	I287V	probably benign	Het
Slc35f3	T	A	8: 127,115,928 (GRCm39)	I285N	probably damaging	Het
Slx4	A	G	16: 3,805,927 (GRCm39)	S542P	possibly damaging	Het
Sox30	A	T	11: 45,908,180 (GRCm39)	L782F	probably damaging	Het
Sspo	A	G	6: 48,432,806 (GRCm39)	N894S	probably benign	Het
Syne1	G	A	10: 5,152,013 (GRCm39)	Q5765*	probably null	Het
Taar7e	T	C	10: 23,913,972 (GRCm39)	I154T	probably benign	Het
Tars1	A	G	15: 11,397,265 (GRCm39)		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem198b	A	T	10: 128,639,057 (GRCm39)	C29S	probably damaging	Het
Tnr	A	C	1: 159,722,617 (GRCm39)	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,548,644 (GRCm39)	P309L	probably damaging	Het
Traf4	A	G	11: 78,051,927 (GRCm39)	S186P	probably benign	Het
Trpm1	T	G	7: 63,890,319 (GRCm39)	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,880,359 (GRCm39)		probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,524,281 (GRCm39)	I92F	probably damaging	Het
Zfp457	A	T	13: 67,441,965 (GRCm39)	D203E	probably benign	Het
Zfp518b	G	A	5: 38,831,501 (GRCm39)	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp777	G	A	6: 48,002,521 (GRCm39)	T523M	probably benign	Het

Other mutations in Rpl38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1938:Rpl38	UTSW	11	114,562,602 (GRCm39)	missense	probably benign	0.31
R3018:Rpl38	UTSW	11	114,559,761 (GRCm39)	missense	possibly damaging	0.69
R6687:Rpl38	UTSW	11	114,559,594 (GRCm39)	splice site	probably benign
R8482:Rpl38	UTSW	11	114,563,114 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- AGAAATGGCTTCCTTGGTCCC -3'
(R):5'- TCCCCAAACGTAGGCTAAAAGG -3'

Sequencing Primer
(F):5'- CCGATTTCTGAGTTAAAGGACAGCC -3'
(R):5'- GAAGGCGATTCAACCACTGAGATC -3'

Posted On

2022-02-07