Mutagenetix > Incidental Mutation

Incidental Mutation 'R4118:Rpp40'

315184

Institutional Source

Beutler Lab

Gene Symbol

Rpp40

Ensembl Gene

ENSMUSG00000021418

Gene Name

ribonuclease P 40 subunit

Synonyms

Rnasep1, D8Bwg1265e

MMRRC Submission

041631-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36077455-36090342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36080787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 316 (Y316H)

Ref Sequence

ENSEMBL: ENSMUSP00000134228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171686] [ENSMUST00000174230]

AlphaFold

Q8R1F9

Predicted Effect

probably damaging
Transcript: ENSMUST00000171686
AA Change: Y339H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
AA Change: Y339H

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_P_40	75	346	1.9e-97	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000174230
AA Change: Y316H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
AA Change: Y316H

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_P_40	85	324	1.7e-83	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000174231
AA Change: Y59H

SMART Domains

Protein: ENSMUSP00000134210
Gene: ENSMUSG00000021418
AA Change: Y59H

Domain	Start	End	E-Value	Type
Pfam:Ribonuc_P_40	19	67	1.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174852

Meta Mutation Damage Score

0.8826

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

92% (55/60)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,373,503 (GRCm39)	R31G	possibly damaging	Het
4932414N04Rik	C	T	2: 68,566,857 (GRCm39)	R419C	probably benign	Het
Ankmy1	T	C	1: 92,816,418 (GRCm39)	E232G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,428 (GRCm39)	K1245M	probably damaging	Het
Atp2c1	A	G	9: 105,343,858 (GRCm39)	L83P	probably damaging	Het
Atp9b	T	C	18: 80,793,044 (GRCm39)	D1000G	possibly damaging	Het
Atxn7	T	C	14: 14,100,308 (GRCm38)	S665P	probably benign	Het
Bbs4	T	C	9: 59,237,708 (GRCm39)	Y212C	possibly damaging	Het
Cars1	A	G	7: 143,113,384 (GRCm39)		probably null	Het
Cep162	T	C	9: 87,086,229 (GRCm39)	T1032A	probably benign	Het
Chd7	G	A	4: 8,865,831 (GRCm39)	E668K	probably damaging	Het
Dek	T	C	13: 47,242,076 (GRCm39)	T201A	probably benign	Het
Depdc5	T	A	5: 33,121,979 (GRCm39)	S1079T	probably damaging	Het
Etaa1	A	T	11: 17,896,180 (GRCm39)	S646T	probably benign	Het
Fat1	T	C	8: 45,463,474 (GRCm39)	S1339P	probably damaging	Het
Fat1	C	A	8: 45,503,981 (GRCm39)	D4491E	probably damaging	Het
Gmps	T	C	3: 63,887,615 (GRCm39)	V29A	probably benign	Het
Gpr18	T	C	14: 122,149,968 (GRCm39)	E19G	probably benign	Het
Ipo5	A	G	14: 121,176,073 (GRCm39)	T633A	probably benign	Het
Jmjd1c	T	A	10: 67,055,532 (GRCm39)	S317R	probably damaging	Het
Lama3	T	A	18: 12,583,488 (GRCm39)	M692K	probably benign	Het
Lrp12	A	T	15: 39,741,361 (GRCm39)	C451*	probably null	Het
Lrp2	C	T	2: 69,260,606 (GRCm39)		probably null	Het
Myrfl	T	A	10: 116,664,870 (GRCm39)	I387F	probably damaging	Het
Naglu	G	A	11: 100,964,908 (GRCm39)	V332I	probably benign	Het
Nat2	G	A	8: 67,954,271 (GRCm39)	R127H	possibly damaging	Het
Otx2	G	A	14: 48,896,611 (GRCm39)	T141I	probably benign	Het
Paqr9	T	A	9: 95,442,952 (GRCm39)	I314N	probably damaging	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Ppm1d	A	G	11: 85,202,408 (GRCm39)	D37G	probably benign	Het
Prdm9	T	G	17: 15,764,275 (GRCm39)	D835A	probably benign	Het
Ptprq	A	G	10: 107,547,781 (GRCm39)	S206P	probably benign	Het
Rapgef2	A	G	3: 78,976,194 (GRCm39)		probably null	Het
Rpgrip1l	G	A	8: 91,979,535 (GRCm39)	T969I	probably benign	Het
Serpinb3d	A	T	1: 107,006,960 (GRCm39)	D249E	possibly damaging	Het
Slc22a29	A	C	19: 8,137,893 (GRCm39)		probably benign	Het
Slc35f1	T	C	10: 52,965,464 (GRCm39)	M293T	probably damaging	Het
Slmap	A	T	14: 26,204,027 (GRCm39)	L98H	probably damaging	Het
Tiam1	C	T	16: 89,673,921 (GRCm39)		probably null	Het
Tlr11	A	G	14: 50,600,684 (GRCm39)	Y890C	probably damaging	Het
Tmem131l	T	C	3: 83,868,074 (GRCm39)	T194A	probably benign	Het
Ubap1	A	T	4: 41,371,767 (GRCm39)	D26V	probably damaging	Het
Vmn2r91	T	A	17: 18,330,358 (GRCm39)	N547K	probably damaging	Het
Wiz	C	T	17: 32,588,331 (GRCm39)		probably benign	Het
Wwp2	A	G	8: 108,272,091 (GRCm39)	T399A	probably benign	Het
Zfp729b	A	T	13: 67,740,829 (GRCm39)	F479I	possibly damaging	Het
Zswim5	G	A	4: 116,844,016 (GRCm39)	R1018H	possibly damaging	Het

Other mutations in Rpp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Rpp40	APN	13	36,086,017 (GRCm39)	missense	probably damaging	1.00
IGL01550:Rpp40	APN	13	36,090,183 (GRCm39)	splice site	probably null
IGL03028:Rpp40	APN	13	36,088,494 (GRCm39)	missense	probably damaging	0.99
R0006:Rpp40	UTSW	13	36,080,718 (GRCm39)	missense	probably damaging	1.00
R0098:Rpp40	UTSW	13	36,082,970 (GRCm39)	missense	probably benign	0.06
R0098:Rpp40	UTSW	13	36,082,970 (GRCm39)	missense	probably benign	0.06
R0144:Rpp40	UTSW	13	36,085,352 (GRCm39)	missense	probably benign	0.00
R0799:Rpp40	UTSW	13	36,086,034 (GRCm39)	missense	probably benign
R1852:Rpp40	UTSW	13	36,080,897 (GRCm39)	missense	probably benign	0.06
R2083:Rpp40	UTSW	13	36,082,975 (GRCm39)	missense	probably benign	0.01
R2129:Rpp40	UTSW	13	36,082,604 (GRCm39)	nonsense	probably null
R4042:Rpp40	UTSW	13	36,082,549 (GRCm39)	missense	probably benign	0.00
R4044:Rpp40	UTSW	13	36,082,549 (GRCm39)	missense	probably benign	0.00
R5068:Rpp40	UTSW	13	36,082,681 (GRCm39)	missense	probably benign	0.00
R5181:Rpp40	UTSW	13	36,080,695 (GRCm39)	splice site	probably null
R7023:Rpp40	UTSW	13	36,082,889 (GRCm39)	missense	possibly damaging	0.66
R7916:Rpp40	UTSW	13	36,086,034 (GRCm39)	missense	probably benign	0.03
R9194:Rpp40	UTSW	13	36,080,898 (GRCm39)	missense	probably benign	0.02
Z1191:Rpp40	UTSW	13	36,080,739 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCTGGGAAGCTAATCACTGTAG -3'
(R):5'- AGAGTCTCAGCTTAATTAGAGCAG -3'

Sequencing Primer
(F):5'- GCTAATCACTGTAGCAAGTCTGG -3'
(R):5'- ACAATGTGGATGTTCTTGACCTC -3'

Posted On

2015-05-14