Mutagenetix > Incidental Mutation

Incidental Mutation 'R4778:Rpp14'

368103

Institutional Source

Beutler Lab

Gene Symbol

Rpp14

Ensembl Gene

ENSMUSG00000023156

Gene Name

ribonuclease P 14 subunit

Synonyms

2610511E03Rik

MMRRC Submission

042414-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8080367-8091834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8090203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 42 (D42E)

Ref Sequence

ENSEMBL: ENSMUSP00000136494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023924] [ENSMUST00000180369]

AlphaFold

Q9CQH8

Predicted Effect

probably benign
Transcript: ENSMUST00000023924

SMART Domains

Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156

Domain	Start	End	E-Value	Type
Pfam:RNase_P_Rpp14	8	109	1.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180369
AA Change: D42E

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136494
Gene: ENSMUSG00000023156
AA Change: D42E

Domain	Start	End	E-Value	Type
Pfam:MaoC_dehydratas	22	142	2e-21	PFAM
Pfam:MaoC_dehydrat_N	26	148	6.4e-9	PFAM

Meta Mutation Damage Score

0.5489

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	C	4: 107,891,998	V64A	probably damaging	Het
4932438A13Rik	T	A	3: 36,937,065	M897K	possibly damaging	Het
Abcc10	T	C	17: 46,304,416	N1349S	probably damaging	Het
AF529169	T	A	9: 89,603,102	I81F	probably damaging	Het
Ahnak	T	C	19: 9,011,975	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,532,093	T156S	probably benign	Het
Card11	G	T	5: 140,883,782		probably null	Het
Cdh3	T	A	8: 106,543,826	I445N	probably damaging	Het
Csrp3	T	G	7: 48,832,563	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Erc1	A	T	6: 119,797,337		probably null	Het
Fat1	T	C	8: 45,038,326	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,494,646	D87G	probably damaging	Het
Gm1123	T	C	9: 99,018,507	I99V	probably benign	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm5045	T	A	15: 59,211,403		noncoding transcript	Het
Hand1	T	C	11: 57,831,623	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,056,080	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583	R726*	probably null	Het
Myo16	T	A	8: 10,569,694	V1415E	probably damaging	Het
Myof	T	C	19: 37,949,563	D901G	probably damaging	Het
Naip1	A	G	13: 100,426,648	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,731,591	Y171*	probably null	Het
Notch4	C	T	17: 34,582,511	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,556,291	D1038E	probably benign	Het
Olfr484	A	T	7: 108,124,480	I261N	possibly damaging	Het
Olfr694	A	C	7: 106,689,667	S21R	probably damaging	Het
Osbpl10	C	T	9: 115,109,530	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,959,145	G252R	probably damaging	Het
Pole	T	G	5: 110,330,832	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,128,620	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,591,022	T1551A	probably benign	Het
Rasgrf2	A	G	13: 91,983,661	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,785	N394K	possibly damaging	Het
Rrp8	T	A	7: 105,737,274		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Snx1	T	C	9: 66,101,416		probably benign	Het
Stau1	A	T	2: 166,963,522	N51K	probably benign	Het
Tdrd5	T	A	1: 156,255,587	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468	D750G	probably damaging	Het
Tmem43	T	C	6: 91,482,255	V236A	probably damaging	Het
Tmem89	T	C	9: 108,915,375	V112A	probably damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Vmn1r41	A	C	6: 89,747,275	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,943,593	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,646,807	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,537,655	S346T	probably benign	Het

Other mutations in Rpp14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Rpp14	APN	14	8083934	missense	possibly damaging	0.78
IGL00424:Rpp14	APN	14	8083934	missense	possibly damaging	0.78
IGL00478:Rpp14	APN	14	8083934	missense	possibly damaging	0.78
IGL00538:Rpp14	APN	14	8083934	missense	possibly damaging	0.78
R1167:Rpp14	UTSW	14	8083705	splice site	probably null
R1499:Rpp14	UTSW	14	8090528	missense	probably benign	0.18
R1874:Rpp14	UTSW	14	8090145	missense	probably benign
R5222:Rpp14	UTSW	14	8087513	missense	probably damaging	0.96
R5561:Rpp14	UTSW	14	8090558	splice site	probably null
R6015:Rpp14	UTSW	14	8090462	missense	probably benign	0.00
R6801:Rpp14	UTSW	14	8083717	start gained	probably benign
R7643:Rpp14	UTSW	14	8090325	nonsense	probably null
R7685:Rpp14	UTSW	14	8090453	missense	probably damaging	0.98
R7872:Rpp14	UTSW	14	8083724	start codon destroyed	probably null	0.00
R8259:Rpp14	UTSW	14	8090526	missense	probably null	0.94
R8491:Rpp14	UTSW	14	8083925	missense	possibly damaging	0.70
R8973:Rpp14	UTSW	14	8088768	missense	probably benign
R9035:Rpp14	UTSW	14	8083772	missense	possibly damaging	0.92
Z1088:Rpp14	UTSW	14	8090539	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACAGTGTCCTTAGGTGTC -3'
(R):5'- GCAGATGCTAAGACCACCTC -3'

Sequencing Primer
(F):5'- CATTATTTGAAAACAGACGAAGGC -3'
(R):5'- CTCTCCAACATATAGAGGAGCAGG -3'

Posted On

2015-12-29