Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:Rrp7a'

654063

Institutional Source

Beutler Lab

Gene Symbol

Rrp7a

Ensembl Gene

ENSMUSG00000018040

Gene Name

ribosomal RNA processing 7 homolog A (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R8437 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

83113433-83122801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83117572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 245 (Q245R)

Ref Sequence

ENSEMBL: ENSMUSP00000018184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000078218] [ENSMUST00000166019] [ENSMUST00000166427] [ENSMUST00000167483]

AlphaFold

Q9D1C9

Predicted Effect

probably damaging
Transcript: ENSMUST00000018184
AA Change: Q245R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040
AA Change: Q245R

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	56	140	2e-6	SMART
Pfam:RRP7	151	280	8.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078218

SMART Domains

Protein: ENSMUSP00000077345
Gene: ENSMUSG00000058586

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	28	282	1.4e-10	PFAM
Pfam:Abhydrolase_6	29	295	2.9e-28	PFAM
Pfam:Abhydrolase_1	53	260	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166019

SMART Domains

Protein: ENSMUSP00000129142
Gene: ENSMUSG00000018040

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	71	144	4e-5	SMART
Blast:RRM	75	145	1e-38	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000166427

SMART Domains

Protein: ENSMUSP00000132686
Gene: ENSMUSG00000058586

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_4	33	194	7.4e-11	PFAM
Pfam:Abhydrolase_1	37	299	4e-20	PFAM
Pfam:Abhydrolase_5	38	292	4.4e-10	PFAM
Pfam:Abhydrolase_6	39	305	6.1e-13	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000127001
Gene: ENSMUSG00000018040
AA Change: Q15R

Domain	Start	End	E-Value	Type
Pfam:RRP7	1	51	8.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167483

SMART Domains

Protein: ENSMUSP00000128380
Gene: ENSMUSG00000018040

Domain	Start	End	E-Value	Type
SCOP:d1l3ka1	56	90	6e-5	SMART
Blast:RRM	60	114	1e-25	BLAST
low complexity region	122	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169814

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Uck1	C	A	2: 32,260,141		probably benign	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	probably damaging	Het

Other mutations in Rrp7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Rrp7a	APN	15	83118081	missense	probably benign	0.34
IGL02335:Rrp7a	APN	15	83122691	missense	probably benign	0.00
IGL02524:Rrp7a	APN	15	83118178	unclassified	probably benign
R4944:Rrp7a	UTSW	15	83119809	unclassified	probably benign
R6284:Rrp7a	UTSW	15	83121860	missense	probably damaging	1.00
R7284:Rrp7a	UTSW	15	83121870	missense	probably damaging	0.96
R7548:Rrp7a	UTSW	15	83117670	missense	possibly damaging	0.85
R8018:Rrp7a	UTSW	15	83116924	missense	possibly damaging	0.49
Z1177:Rrp7a	UTSW	15	83122138	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAACAGGGAGAATGTCCTG -3'
(R):5'- TCAACAGCGTCTTCCATGCAG -3'

Sequencing Primer
(F):5'- GAGACTGTCCTCCCTTGTGG -3'
(R):5'- TCTTCCATGCAGGAGGAGG -3'

Posted On

2020-10-20