Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Rpp40'

408292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpp40

Ensembl Gene

ENSMUSG00000021418

Gene Name

ribonuclease P 40 subunit

Synonyms

Rnasep1, D8Bwg1265e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

36077455-36090342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36088494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 59 (L59Q)

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: L59Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130290
Gene: ENSMUSG00000021418
AA Change: L59Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174230
AA Change: L59Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134228
Gene: ENSMUSG00000021418
AA Change: L59Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225277

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,506,062 (GRCm39)	V86G	probably benign	Het
Adgra3	A	T	5: 50,174,194 (GRCm39)	W115R	probably benign	Het
Ahr	G	A	12: 35,554,709 (GRCm39)	A470V	probably benign	Het
Aoah	A	T	13: 21,000,752 (GRCm39)	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 42,937,524 (GRCm39)	D100E	possibly damaging	Het
Asic1	A	G	15: 99,570,038 (GRCm39)	N120D	probably benign	Het
Atp2b2	A	G	6: 113,736,103 (GRCm39)	L988P	probably damaging	Het
Atxn2	T	A	5: 121,948,972 (GRCm39)	H789Q	probably damaging	Het
Clk1	G	T	1: 58,460,261 (GRCm39)	S123*	probably null	Het
Col10a1	C	T	10: 34,271,012 (GRCm39)	A328V	probably benign	Het
Col26a1	G	T	5: 136,771,972 (GRCm39)	D415E	possibly damaging	Het
Ctla2a	A	G	13: 61,083,273 (GRCm39)		probably benign	Het
Cwf19l2	A	G	9: 3,430,622 (GRCm39)	E318G	probably benign	Het
Dnajc16	C	T	4: 141,495,043 (GRCm39)	W523*	probably null	Het
Ehhadh	T	C	16: 21,581,144 (GRCm39)	E616G	probably damaging	Het
F5	A	T	1: 164,020,569 (GRCm39)	K1015*	probably null	Het
Fam78a	A	G	2: 31,972,894 (GRCm39)	W9R	possibly damaging	Het
Frs2	A	T	10: 116,909,838 (GRCm39)	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111 (GRCm38)	M200L	probably benign	Het
Gm44511	T	C	6: 128,757,358 (GRCm39)	S179G	probably damaging	Het
Gpr25	G	A	1: 136,188,550 (GRCm39)	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471 (GRCm39)	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,799,215 (GRCm39)		probably null	Het
Kl	A	G	5: 150,915,015 (GRCm39)	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,001,577 (GRCm39)	V45G	probably damaging	Het
Mppe1	A	C	18: 67,360,755 (GRCm39)	C261W	probably damaging	Het
Nin	T	C	12: 70,082,044 (GRCm39)	T1640A	probably benign	Het
Or51a8	T	A	7: 102,550,036 (GRCm39)	I154N	possibly damaging	Het
Or51ac3	A	G	7: 103,213,796 (GRCm39)		probably null	Het
Or5c1	C	T	2: 37,221,968 (GRCm39)	L70F	probably damaging	Het
Or5p59	T	A	7: 107,703,380 (GRCm39)	M288K	probably damaging	Het
Or7g26	A	T	9: 19,230,664 (GRCm39)	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,680,559 (GRCm39)	N166D	probably damaging	Het
Pank4	T	A	4: 155,054,442 (GRCm39)		probably benign	Het
Pgd	A	G	4: 149,246,084 (GRCm39)		probably null	Het
Pitrm1	C	T	13: 6,624,429 (GRCm39)	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rad51	A	C	2: 118,946,795 (GRCm39)	M1L	possibly damaging	Het
Recql5	G	T	11: 115,785,257 (GRCm39)	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,214,287 (GRCm39)	Q133*	probably null	Het
Rtca	C	A	3: 116,286,741 (GRCm39)		probably benign	Het
Rtkn	C	T	6: 83,124,853 (GRCm39)	Q108*	probably null	Het
Shoc1	A	C	4: 59,094,274 (GRCm39)	I150S	possibly damaging	Het
Sirt6	C	T	10: 81,463,375 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,649,537 (GRCm39)	V517M	probably benign	Het
Smarca2	G	T	19: 26,655,712 (GRCm39)		probably benign	Het
Snx33	A	T	9: 56,833,735 (GRCm39)	D111E	probably benign	Het
Tgfb1	T	C	7: 25,403,621 (GRCm39)	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,362,806 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,223,213 (GRCm39)	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,837 (GRCm39)	T47A	probably benign	Het
Unc79	T	C	12: 103,139,785 (GRCm39)	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,844,450 (GRCm39)	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,914,328 (GRCm39)	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,974,038 (GRCm39)	I79L	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
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
R4118:Rpp40	UTSW	13	36,080,787 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02