Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Rpp38'

308743

Institutional Source

Beutler Lab

Gene Symbol

Rpp38

Ensembl Gene

ENSMUSG00000049950

Gene Name

ribonuclease P/MRP 38 subunit

Synonyms

MMRRC Submission

040795-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3328949-3332643 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3329246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 206 (R206S)

Ref Sequence

ENSEMBL: ENSMUSP00000050992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062672] [ENSMUST00000081932] [ENSMUST00000091504] [ENSMUST00000102989]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062672
AA Change: R206S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000050992
Gene: ENSMUSG00000049950
AA Change: R206S

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	96	185	2.2e-16	PFAM
low complexity region	262	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081932

SMART Domains

Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
Pfam:NMT	170	327	1e-78	PFAM
Pfam:NMT_C	341	528	2.9e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091504

SMART Domains

Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:NMT	124	283	2e-84	PFAM
Pfam:NMT_C	297	484	1.4e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102989

SMART Domains

Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
Pfam:NMT	137	296	7.8e-85	PFAM
Pfam:NMT_C	310	497	6.4e-88	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,498,389	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 131,139,094	E131G	probably benign	Het
9530053A07Rik	T	A	7: 28,140,038	C425*	probably null	Het
Angptl4	G	A	17: 33,777,034	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,398	S201P	probably damaging	Het
Cep95	A	G	11: 106,806,292	I257V	probably damaging	Het
Clca4a	T	C	3: 144,957,318	N590S	probably benign	Het
Cyfip2	A	G	11: 46,208,335	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,618,617	Q136L	probably benign	Het
Def6	T	C	17: 28,220,215	C267R	probably damaging	Het
Dgat2	G	A	7: 99,169,743	Q69*	probably null	Het
Dlgap1	T	A	17: 70,786,815	S710R	probably damaging	Het
Dnah10	T	C	5: 124,773,031	I1539T	probably benign	Het
Dnah2	T	A	11: 69,451,347	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,919,692	S76P	probably damaging	Het
Esr2	T	C	12: 76,167,620	D19G	probably damaging	Het
Fam13b	A	T	18: 34,462,059		probably null	Het
Fbxw14	A	T	9: 109,271,194	V464D	possibly damaging	Het
Gm21961	A	G	15: 65,014,867		probably null	Het
Gpd2	C	T	2: 57,338,975	R264*	probably null	Het
Hps5	A	G	7: 46,771,996	V648A	possibly damaging	Het
Ints4	A	G	7: 97,516,257	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,113,840	N1860S	probably benign	Het
Itsn2	G	A	12: 4,634,546		probably benign	Het
Jup	A	G	11: 100,378,381	V402A	probably benign	Het
Letm2	C	A	8: 25,593,868	E116*	probably null	Het
Ly6c1	T	C	15: 75,045,587	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,506,446	S1591N	probably benign	Het
Mier2	C	T	10: 79,548,750		probably null	Het
Mocs2	T	A	13: 114,819,346	L10*	probably null	Het
Myo6	A	G	9: 80,264,256	D513G	probably damaging	Het
Myoz2	T	C	3: 123,013,720	Y147C	probably damaging	Het
Nin	C	T	12: 70,042,541	V1367M	probably benign	Het
Nr2f6	C	T	8: 71,376,031	A200T	probably damaging	Het
Obscn	C	T	11: 59,056,949	C4418Y	probably damaging	Het
Olfr1331	A	G	4: 118,869,353	M191V	probably benign	Het
Olfr1495	T	C	19: 13,768,780	V146A	probably benign	Het
Olfr154	T	A	2: 85,664,425	H3L	probably benign	Het
Paxip1	C	T	5: 27,748,839	R953Q	probably damaging	Het
Pcdha1	A	T	18: 36,931,401	I373F	possibly damaging	Het
Pcdha7	G	A	18: 36,975,379	E486K	probably benign	Het
Recql5	G	A	11: 115,893,954	P849L	probably benign	Het
Recql5	G	T	11: 115,893,955	P849T	probably benign	Het
Rnf180	A	T	13: 105,250,407	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,914,422	S3P	probably benign	Het
Sdha	G	T	13: 74,339,192	P159Q	probably damaging	Het
Shank2	T	C	7: 144,405,384	V199A	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Timm50	C	A	7: 28,311,007	A41S	probably benign	Het
Tmbim1	A	G	1: 74,289,998		probably benign	Het
Tmprss11a	C	T	5: 86,445,805	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,183,240	H411L	probably damaging	Het
Ube4b	A	T	4: 149,365,404		probably null	Het
Zdhhc22	T	A	12: 86,983,626	M183L	probably benign	Het
Zfp106	A	G	2: 120,532,149	S830P	probably benign	Het

Other mutations in Rpp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02608:Rpp38	APN	2	3329161	missense	probably benign	0.02
R6475:Rpp38	UTSW	2	3329607	missense	probably benign	0.00
R6978:Rpp38	UTSW	2	3329721	missense	probably damaging	1.00
RF008:Rpp38	UTSW	2	3329035	missense	unknown
Z1176:Rpp38	UTSW	2	3329522	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCTTACTAGGGTTGGGAATGAGC -3'
(R):5'- GTCAAGCCTGCCATCATCAC -3'

Sequencing Primer
(F):5'- TCCACCTTCAGCAAGCTT -3'
(R):5'- CCTGATTCAGCTGAGTCTAAGCAG -3'

Posted On

2015-04-17