Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Rpp14'

687328

Institutional Source

Beutler Lab

Gene Symbol

Rpp14

Ensembl Gene

ENSMUSG00000023156

Gene Name

ribonuclease P 14 subunit

Synonyms

2610511E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8080367-8091834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8083772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 17 (Y17N)

Ref Sequence

ENSEMBL: ENSMUSP00000023924 (fasta)

Gene Model

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

AlphaFold

Q9CQH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023924
AA Change: Y17N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023924
Gene: ENSMUSG00000023156
AA Change: Y17N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	A	G	11: 110,130,635	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,460,392	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,765,445		probably null	Het
Bptf	A	G	11: 107,073,016	V1784A	probably damaging	Het
Cabs1	T	C	5: 87,980,450	V320A	probably damaging	Het
Camta1	A	C	4: 151,144,702	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922	K466*	probably null	Het
Cdhr1	G	A	14: 37,088,967	P279L	possibly damaging	Het
Cenpe	A	G	3: 135,270,811	N2393S	probably benign	Het
Cep104	T	C	4: 153,979,005	V8A	probably benign	Het
Chaf1a	T	A	17: 56,064,110	V665E	probably damaging	Het
Clasp1	T	A	1: 118,503,853	D404E	probably damaging	Het
Clnk	G	A	5: 38,750,408	T169I	possibly damaging	Het
Cnst	G	A	1: 179,610,022	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,016	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,516,860	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,368,697	K572R	probably benign	Het
Dolk	C	A	2: 30,284,530	W501L	probably damaging	Het
Ednrb	G	A	14: 103,843,229	P83L	probably benign	Het
Edrf1	T	C	7: 133,643,702	W190R	probably damaging	Het
Epha5	T	A	5: 84,108,027	D468V	probably damaging	Het
Fat2	G	T	11: 55,303,721	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,750,782	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,867,623	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,028,083	S557R	probably benign	Het
Gm340	A	T	19: 41,584,960	H718L	probably benign	Het
Gmip	A	T	8: 69,820,648	H863L	probably damaging	Het
Grm3	A	T	5: 9,570,464	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,746,148	P64S	probably benign	Het
Hand1	A	C	11: 57,831,722	M22R	probably benign	Het
Igsf21	A	G	4: 140,157,471	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,539,478	R291*	probably null	Het
Itih4	C	G	14: 30,896,693	P687R	probably benign	Het
Kifc3	C	T	8: 95,126,567	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,319,012	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,627,882	R101S	unknown	Het
L3mbtl2	T	A	15: 81,676,543		probably benign	Het
Lrrc73	T	C	17: 46,254,367	I8T	probably damaging	Het
Med19	C	A	2: 84,686,188		probably benign	Het
Mgarp	C	T	3: 51,388,843	S246N	unknown	Het
Mkrn2	T	C	6: 115,617,720	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,896,013	R137H	unknown	Het
Myo1g	A	G	11: 6,514,916	Y453H	probably damaging	Het
Nacc2	C	A	2: 26,061,593	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,894,873	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,434,431	T580K	probably damaging	Het
Nobox	A	T	6: 43,307,588	D41E	probably damaging	Het
Nsd1	A	G	13: 55,245,854	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,364,820	M370V	probably benign	Het
Olfm5	T	A	7: 104,153,892	N455Y	probably damaging	Het
Olfr1080	T	A	2: 86,553,677	Y149F	probably damaging	Het
Olfr1188	T	A	2: 88,559,519	F6I	probably damaging	Het
Olfr130	T	C	17: 38,067,288	V39A	probably benign	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr596	T	C	7: 103,309,979	I86T	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Pclo	A	T	5: 14,713,178	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,502,952	Q1910L	probably damaging	Het
Plg	C	A	17: 12,390,220	Y137*	probably null	Het
Prkra	T	C	2: 76,630,512	I281V	probably benign	Het
Prrc2c	A	C	1: 162,675,726	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,485,500	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,658,291	Q256R	probably benign	Het
Ryr1	A	T	7: 29,090,997	H1468Q	probably damaging	Het
Scp2	C	T	4: 108,055,520	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,173,065	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,735,464	S34G	probably benign	Het
Shisa9	T	A	16: 11,985,038	I153N	probably damaging	Het
Sin3b	C	A	8: 72,723,464	P3H	unknown	Het
Slc15a2	C	A	16: 36,782,357	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,419,591	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,981,449		probably null	Het
Slfn4	A	T	11: 83,186,650	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491	Q460K	probably benign	Het
Tlr11	A	T	14: 50,360,977	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384		probably benign	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tpm1	A	G	9: 67,047,856	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,207,889		probably benign	Het
Ttc30b	T	C	2: 75,937,252	T386A	probably benign	Het
Ttn	T	C	2: 76,762,717	T20730A	possibly damaging	Het
Uap1	A	T	1: 170,149,444	Y395*	probably null	Het
Usp2	A	T	9: 44,075,879	D158V	probably damaging	Het
Usp30	A	G	5: 114,105,816	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,116,751	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,425,610	V286A	probably benign	Het
Wdr78	T	A	4: 103,048,302	K761*	probably null	Het
Xdh	T	C	17: 73,910,227	H682R	probably benign	Het
Zbed3	T	A	13: 95,336,491	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,948,313	C373R	possibly damaging	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
R4778:Rpp14	UTSW	14	8090203	missense	probably benign	0.08
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
Z1088:Rpp14	UTSW	14	8090539	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTACGCTTTGGCTTATACTTCAGG -3'
(R):5'- AACTGTGCCACGTTCAGTCC -3'

Sequencing Primer
(F):5'- GGCTTATACTTCAGGTCCAAGGC -3'
(R):5'- GTCCAACCCCATGTTCTTGAAAC -3'

Posted On

2021-11-19