Mutagenetix > Incidental Mutation

Incidental Mutation 'R6475:Rpp38'

517357

Institutional Source

Beutler Lab

Gene Symbol

Rpp38

Ensembl Gene

ENSMUSG00000049950

Gene Name

ribonuclease P/MRP 38 subunit

Synonyms

C330006A15Rik

MMRRC Submission

044608-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R6475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3329986-3333680 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3330644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000050992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062672] [ENSMUST00000081932] [ENSMUST00000091504] [ENSMUST00000102989]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000062672
AA Change: D86G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050992
Gene: ENSMUSG00000049950
AA Change: D86G

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC
Pfam:Ribosomal_L7Ae	96	185	2.2e-16	PFAM
low complexity region	262	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081932

SMART Domains

Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
Pfam:NMT	170	327	1e-78	PFAM
Pfam:NMT_C	341	528	2.9e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091504

SMART Domains

Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
Pfam:NMT	124	283	2e-84	PFAM
Pfam:NMT_C	297	484	1.4e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102989

SMART Domains

Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
Pfam:NMT	137	296	7.8e-85	PFAM
Pfam:NMT_C	310	497	6.4e-88	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb5	T	A	8: 55,003,610 (GRCm39)	V44E	probably damaging	Het
Bmpr2	T	A	1: 59,907,503 (GRCm39)	D865E	probably damaging	Het
Ccr4	A	G	9: 114,322,047 (GRCm39)	V6A	probably benign	Het
Cd209a	A	T	8: 3,797,031 (GRCm39)	D102E	probably damaging	Het
Cdh18	A	G	15: 23,227,022 (GRCm39)	D161G	possibly damaging	Het
Cog4	T	A	8: 111,607,526 (GRCm39)	I671N	possibly damaging	Het
Col14a1	T	G	15: 55,309,218 (GRCm39)		probably benign	Het
Cpne6	A	G	14: 55,751,110 (GRCm39)	D173G	probably damaging	Het
Daglb	G	T	5: 143,467,406 (GRCm39)	V275L	probably benign	Het
Defb43	G	T	14: 63,249,321 (GRCm39)		probably null	Het
Dhx30	A	G	9: 109,914,120 (GRCm39)	V1022A	possibly damaging	Het
Egfem1	A	T	3: 29,711,312 (GRCm39)	K297M	probably damaging	Het
Egfr	A	G	11: 16,841,259 (GRCm39)	I717V	probably benign	Het
Eif2ak1	T	G	5: 143,803,765 (GRCm39)		probably null	Het
Epb42	T	C	2: 120,857,614 (GRCm39)	Y307C	possibly damaging	Het
Erlec1	G	A	11: 30,898,442 (GRCm39)	Q10*	probably null	Het
Fam185a	A	G	5: 21,630,281 (GRCm39)	D39G	probably benign	Het
Fbxl4	T	A	4: 22,433,661 (GRCm39)	D599E	probably damaging	Het
Fgfr2	T	A	7: 129,802,850 (GRCm39)	T268S	probably benign	Het
Gabra1	A	T	11: 42,053,382 (GRCm39)	M84K	probably benign	Het
Gba1	A	G	3: 89,113,235 (GRCm39)	D222G	probably benign	Het
Gm3409	T	A	5: 146,474,596 (GRCm39)	H37Q	possibly damaging	Het
Gm4559	A	G	7: 141,827,887 (GRCm39)	C72R	unknown	Het
Grik4	T	C	9: 42,540,304 (GRCm39)	N292S	probably benign	Het
Haao	A	G	17: 84,139,113 (GRCm39)	S274P	possibly damaging	Het
Hsd17b4	T	A	18: 50,305,329 (GRCm39)		probably null	Het
Igdcc4	A	T	9: 65,027,603 (GRCm39)	S222C	probably damaging	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itgb7	T	A	15: 102,124,701 (GRCm39)	D772V	probably benign	Het
Kif14	T	C	1: 136,455,149 (GRCm39)	L1607P	probably damaging	Het
Klf5	A	G	14: 99,538,817 (GRCm39)	T77A	probably benign	Het
Klhl29	C	T	12: 5,141,030 (GRCm39)	V605I	probably damaging	Het
Map4k1	T	C	7: 28,686,447 (GRCm39)	V105A	probably damaging	Het
Mctp2	A	T	7: 71,850,092 (GRCm39)		probably null	Het
Med12l	A	G	3: 59,164,500 (GRCm39)	E1364G	probably damaging	Het
Mup9	A	T	4: 60,375,805 (GRCm39)	D30E	possibly damaging	Het
Naip1	T	C	13: 100,545,596 (GRCm39)	R1311G	probably damaging	Het
Or2ag2	A	G	7: 106,485,604 (GRCm39)	V140A	probably benign	Het
Or2v1	C	T	11: 49,025,760 (GRCm39)	T247I	probably benign	Het
Or4f14	G	A	2: 111,743,204 (GRCm39)	Q24*	probably null	Het
Or8g28	T	A	9: 39,169,378 (GRCm39)	M197L	probably benign	Het
Pkd1l3	A	C	8: 110,349,844 (GRCm39)	T230P	unknown	Het
Pthlh	G	T	6: 147,158,688 (GRCm39)	H91N	probably damaging	Het
Rapgef5	T	A	12: 117,681,942 (GRCm39)	V239D	probably damaging	Het
Rita1	G	A	5: 120,749,635 (GRCm39)	T26I	probably damaging	Het
Robo3	T	C	9: 37,334,586 (GRCm39)	T615A	probably damaging	Het
Sec31a	T	C	5: 100,533,129 (GRCm39)	T539A	probably damaging	Het
Senp2	G	T	16: 21,842,550 (GRCm39)	V205L	probably damaging	Het
Septin10	T	C	10: 59,028,133 (GRCm39)	N63D	possibly damaging	Het
Sez6	A	G	11: 77,864,670 (GRCm39)			Het
Spesp1	C	T	9: 62,179,715 (GRCm39)	V398I	probably benign	Het
Tmbim7	G	A	5: 3,714,319 (GRCm39)	G19S	probably benign	Het
Tnni3k	A	T	3: 154,646,695 (GRCm39)	L431*	probably null	Het
Trdn	T	A	10: 33,340,551 (GRCm39)		probably null	Het
Tubb2a	A	G	13: 34,259,442 (GRCm39)	V116A	possibly damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Zfp768	A	T	7: 126,943,827 (GRCm39)	F103L	probably damaging	Het
Zfp799	A	G	17: 33,039,820 (GRCm39)	S149P	probably damaging	Het

Other mutations in Rpp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02608:Rpp38	APN	2	3,330,198 (GRCm39)	missense	probably benign	0.02
R3881:Rpp38	UTSW	2	3,330,283 (GRCm39)	missense	probably benign	0.01
R6978:Rpp38	UTSW	2	3,330,758 (GRCm39)	missense	probably damaging	1.00
RF008:Rpp38	UTSW	2	3,330,072 (GRCm39)	missense	unknown
Z1176:Rpp38	UTSW	2	3,330,559 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTCTCGCTGAGCTGAGG -3'
(R):5'- TTATTTCCTGGAGCACCTTGG -3'

Sequencing Primer
(F):5'- CTGCTTAGACTCAGCTGAATCAGG -3'
(R):5'- CCTGGAGCACCTTGGAGAGAG -3'

Posted On

2018-05-21