Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Rpp40'

697873

Institutional Source

Beutler Lab

Gene Symbol

Rpp40

Ensembl Gene

ENSMUSG00000021418

Gene Name

ribonuclease P 40 subunit

Synonyms

D8Bwg1265e, Rnasep1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35893472-35906359 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35896915 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 302 (D302N)

Ref Sequence

ENSEMBL: ENSMUSP00000130290 (fasta)

Gene Model

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

AlphaFold

Q8R1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000171686
AA Change: D302N

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
AA Change: D302N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174230
AA Change: D279N

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
AA Change: D279N

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134210
Gene: ENSMUSG00000021418
AA Change: D22N

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	probably benign	Het

Other mutations in Rpp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01072:Rpp40	APN	13	35902034	missense	probably damaging	1.00
IGL01550:Rpp40	APN	13	35906200	splice site	probably null
IGL03028:Rpp40	APN	13	35904511	missense	probably damaging	0.99
R0006:Rpp40	UTSW	13	35896735	missense	probably damaging	1.00
R0098:Rpp40	UTSW	13	35898987	missense	probably benign	0.06
R0098:Rpp40	UTSW	13	35898987	missense	probably benign	0.06
R0144:Rpp40	UTSW	13	35901369	missense	probably benign	0.00
R0799:Rpp40	UTSW	13	35902051	missense	probably benign
R1852:Rpp40	UTSW	13	35896914	missense	probably benign	0.06
R2083:Rpp40	UTSW	13	35898992	missense	probably benign	0.01
R2129:Rpp40	UTSW	13	35898621	nonsense	probably null
R4042:Rpp40	UTSW	13	35898566	missense	probably benign	0.00
R4044:Rpp40	UTSW	13	35898566	missense	probably benign	0.00
R4118:Rpp40	UTSW	13	35896804	missense	probably damaging	1.00
R5068:Rpp40	UTSW	13	35898698	missense	probably benign	0.00
R5181:Rpp40	UTSW	13	35896712	splice site	probably null
R7023:Rpp40	UTSW	13	35898906	missense	possibly damaging	0.66
R7916:Rpp40	UTSW	13	35902051	missense	probably benign	0.03
Z1191:Rpp40	UTSW	13	35896756	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TCATCATTTGCCCCAACAGC -3'
(R):5'- TTTCCAGGCAGTGAGTAAGCTG -3'

Sequencing Primer
(F):5'- GCCATCTGAAGCCAATAGTCCTG -3'
(R):5'- CAGTGAGTAAGCTGCAGTTGTC -3'

Posted On

2022-02-07