Mutagenetix > Incidental Mutation

Incidental Mutation 'R1742:Rpp25l'

200409

Institutional Source

Beutler Lab

Gene Symbol

Rpp25l

Ensembl Gene

ENSMUSG00000036114

Gene Name

ribonuclease P/MRP 25 subunit-like

Synonyms

2810432D09Rik

MMRRC Submission

039774-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R1742 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41712033-41713517 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41712763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 4 (Y4C)

Ref Sequence

ENSEMBL: ENSMUSP00000041477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030158] [ENSMUST00000038434] [ENSMUST00000108041] [ENSMUST00000171641]

AlphaFold

Q99JH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030158

SMART Domains

Protein: ENSMUSP00000030158
Gene: ENSMUSG00000028447

Domain	Start	End	E-Value	Type
Pfam:Dynactin_p22	6	170	2.8e-61	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038434
AA Change: Y4C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041477
Gene: ENSMUSG00000036114
AA Change: Y4C

Domain	Start	End	E-Value	Type
Pfam:Alba	26	90	8.2e-16	PFAM
low complexity region	144	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108041

SMART Domains

Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IG	33	108	5.75e-4	SMART
FN3	112	204	2.18e-2	SMART
FN3	218	304	4.93e-1	SMART
low complexity region	354	365	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171641

SMART Domains

Protein: ENSMUSP00000130988
Gene: ENSMUSG00000028447

Domain	Start	End	E-Value	Type
Pfam:Dynactin_p22	1	149	1.4e-63	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	C	A	18: 36,758,318 (GRCm39)	A1004E	probably damaging	Het
Arfgef2	A	G	2: 166,708,900 (GRCm39)	S1071G	probably damaging	Het
Arhgef5	T	A	6: 43,257,133 (GRCm39)	I1228N	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bptf	A	G	11: 107,001,777 (GRCm39)	V445A	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Ccdc171	T	A	4: 83,599,521 (GRCm39)	S779T	probably damaging	Het
Ccdc54	T	C	16: 50,410,601 (GRCm39)	K222E	possibly damaging	Het
Cebpe	A	G	14: 54,949,057 (GRCm39)	V120A	probably benign	Het
Clhc1	T	A	11: 29,507,647 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,673,762 (GRCm39)	G985S	unknown	Het
Col6a3	T	A	1: 90,741,516 (GRCm39)	I639F	probably damaging	Het
Cryga	C	A	1: 65,142,280 (GRCm39)	V38L	probably benign	Het
Dll3	T	C	7: 27,993,848 (GRCm39)	T530A	probably benign	Het
Dnaaf9	A	T	2: 130,582,315 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,495,843 (GRCm39)	P3205S	probably benign	Het
Dpp10	T	A	1: 123,372,935 (GRCm39)	Y224F	probably damaging	Het
Eif1ad10	C	T	12: 88,216,453 (GRCm39)	D140N	unknown	Het
Fcrl2	T	C	3: 87,166,350 (GRCm39)	T142A	possibly damaging	Het
Fyttd1	C	T	16: 32,725,923 (GRCm39)	R175*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr33	T	C	12: 52,071,045 (GRCm39)		probably null	Het
Gse1	T	A	8: 121,293,689 (GRCm39)	V205E	probably damaging	Het
Herc4	C	A	10: 63,123,728 (GRCm39)	N461K	probably benign	Het
Ifi206	G	A	1: 173,309,537 (GRCm39)	T153I	probably benign	Het
Iqca1	T	C	1: 90,025,773 (GRCm39)	I341V	probably benign	Het
Itsn1	T	G	16: 91,613,847 (GRCm39)		probably null	Het
Kcnk5	T	A	14: 20,191,925 (GRCm39)	Y412F	probably benign	Het
Lemd1	T	A	1: 132,156,036 (GRCm39)	I26K	probably damaging	Het
Lipc	A	T	9: 70,727,811 (GRCm39)	L12Q	probably damaging	Het
Lrrtm1	C	A	6: 77,221,074 (GRCm39)	P177Q	probably damaging	Het
Mcph1	G	A	8: 18,657,379 (GRCm39)	G73R	probably benign	Het
Msantd5f6	T	C	4: 73,319,447 (GRCm39)	D99G	probably damaging	Het
Myh11	A	T	16: 14,037,908 (GRCm39)	L899Q	probably damaging	Het
Myo18a	G	T	11: 77,732,293 (GRCm39)	R822L	probably damaging	Het
Nav3	T	C	10: 109,605,074 (GRCm39)	T1000A	probably benign	Het
Nox4	T	C	7: 86,945,026 (GRCm39)	V94A	possibly damaging	Het
Or10ag53	T	A	2: 87,083,122 (GRCm39)	N280K	probably benign	Het
Or4c123	G	T	2: 89,126,768 (GRCm39)	P282H	probably damaging	Het
Or7g32	A	G	9: 19,389,337 (GRCm39)	S67P	probably damaging	Het
Oxr1	T	C	15: 41,713,955 (GRCm39)	L679P	probably damaging	Het
Pcdhb17	T	C	18: 37,619,629 (GRCm39)	I473T	probably damaging	Het
Pgbd5	T	A	8: 125,107,046 (GRCm39)	E165D	probably damaging	Het
Pgpep1l	A	T	7: 67,886,802 (GRCm39)	V169D	probably damaging	Het
Phf12	C	T	11: 77,900,312 (GRCm39)	T136I	probably benign	Het
Pif1	T	A	9: 65,495,132 (GRCm39)	M14K	probably benign	Het
Pigr	A	G	1: 130,772,823 (GRCm39)	E347G	probably damaging	Het
Plekha3	G	A	2: 76,513,223 (GRCm39)	E103K	possibly damaging	Het
Ptgs2	A	G	1: 149,980,150 (GRCm39)	I363V	probably damaging	Het
Rasl11a	T	A	5: 146,783,805 (GRCm39)		probably null	Het
Recql	T	C	6: 142,310,298 (GRCm39)	T511A	probably damaging	Het
Rgl2	T	A	17: 34,156,197 (GRCm39)		probably null	Het
Sass6	T	G	3: 116,401,126 (GRCm39)	C156G	probably damaging	Het
Sgta	T	G	10: 80,882,111 (GRCm39)	N288T	probably damaging	Het
Slco1a4	T	A	6: 141,770,771 (GRCm39)	T282S	probably benign	Het
Smad4	T	C	18: 73,808,968 (GRCm39)	R100G	probably damaging	Het
Sox8	C	T	17: 25,786,915 (GRCm39)	V263M	probably damaging	Het
Sp8	A	G	12: 118,813,552 (GRCm39)	H469R	probably benign	Het
Spata1	A	T	3: 146,175,378 (GRCm39)		probably null	Het
Taar7a	G	A	10: 23,869,117 (GRCm39)	S88F	probably damaging	Het
Tnks2	T	C	19: 36,853,661 (GRCm39)	L749S	probably damaging	Het
Tollip	C	A	7: 141,446,592 (GRCm39)	R19L	probably damaging	Het
Tox2	G	A	2: 163,067,446 (GRCm39)	R55H	probably benign	Het
Vmn2r27	T	C	6: 124,177,636 (GRCm39)	E456G	possibly damaging	Het
Vmn2r77	T	A	7: 86,444,543 (GRCm39)	N65K	probably benign	Het
Vwf	T	C	6: 125,644,513 (GRCm39)	M2456T	probably benign	Het
Zfp526	A	G	7: 24,923,939 (GRCm39)	N66S	possibly damaging	Het
Zic1	T	C	9: 91,243,629 (GRCm39)	Y446C	probably damaging	Het

Other mutations in Rpp25l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03196:Rpp25l	APN	4	41,712,541 (GRCm39)	missense	possibly damaging	0.65
R5768:Rpp25l	UTSW	4	41,712,649 (GRCm39)	missense	probably damaging	0.98
R5858:Rpp25l	UTSW	4	41,712,678 (GRCm39)	missense	probably benign	0.01
R7570:Rpp25l	UTSW	4	41,712,529 (GRCm39)	missense	probably damaging	1.00
R7593:Rpp25l	UTSW	4	41,712,305 (GRCm39)	missense	unknown
R7679:Rpp25l	UTSW	4	41,712,326 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGAACCCGCCTTTTGACAATCTCTG -3'
(R):5'- GACTCGATAATTCTTGGCCCCAGC -3'

Sequencing Primer
(F):5'- TGACAGCCTTTCCAGCAG -3'
(R):5'- AGCCTTGAGACGCTGGG -3'

Posted On

2014-05-23