Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:Rrp7a'

289702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp7a

Ensembl Gene

ENSMUSG00000018040

Gene Name

ribosomal RNA processing 7 homolog A

Synonyms

1110014J01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

83000047-83007002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83006892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 15 (E15G)

Ref Sequence

ENSEMBL: ENSMUSP00000128380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018184] [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000166019] [ENSMUST00000167483]

AlphaFold

Q9D1C9

Predicted Effect

probably benign
Transcript: ENSMUST00000018184
AA Change: E15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018184
Gene: ENSMUSG00000018040
AA Change: E15G

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: ENSMUST00000058793

SMART Domains

Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815

Domain	Start	End	E-Value	Type
low complexity region	183	196	N/A	INTRINSIC
low complexity region	214	223	N/A	INTRINSIC
low complexity region	260	272	N/A	INTRINSIC
RRM	281	347	5.05e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100375

SMART Domains

Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815

Domain	Start	End	E-Value	Type
low complexity region	154	167	N/A	INTRINSIC
low complexity region	185	194	N/A	INTRINSIC
low complexity region	231	243	N/A	INTRINSIC
RRM	252	318	5.05e-11	SMART

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: ENSMUST00000167483
AA Change: E15G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000128380
Gene: ENSMUSG00000018040
AA Change: E15G

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

noncoding transcript
Transcript: ENSMUST00000167589

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,502,266 (GRCm39)	T142I	probably benign	Het
Aadacl2fm2	G	A	3: 59,651,026 (GRCm39)	M49I	probably benign	Het
Acaca	A	G	11: 84,105,084 (GRCm39)	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,776,685 (GRCm39)	D397G	probably damaging	Het
Ank1	C	T	8: 23,625,654 (GRCm39)	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,557,755 (GRCm39)	T94A	possibly damaging	Het
Cd22	A	G	7: 30,575,559 (GRCm39)	I161T	probably damaging	Het
Clcn7	C	T	17: 25,365,821 (GRCm39)	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095 (GRCm39)	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,327,165 (GRCm39)		probably benign	Het
Col6a6	C	T	9: 105,661,300 (GRCm39)	V270M	probably damaging	Het
Cox8b	C	A	7: 140,478,990 (GRCm39)	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,828,704 (GRCm39)	D275V	probably benign	Het
Cubn	T	A	2: 13,432,645 (GRCm39)		probably null	Het
Dctn2	T	C	10: 127,111,690 (GRCm39)		probably benign	Het
Dnm1l	A	G	16: 16,160,604 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,164,988 (GRCm39)	E687G	probably benign	Het
Fbxw20	T	C	9: 109,052,377 (GRCm39)	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,167,550 (GRCm39)	W181*	probably null	Het
G2e3	T	A	12: 51,415,941 (GRCm39)	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,289,515 (GRCm39)	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,793,059 (GRCm39)	I572M	probably benign	Het
Gpatch2l	T	A	12: 86,303,711 (GRCm39)		probably benign	Het
Kcnq4	A	G	4: 120,573,051 (GRCm39)	L250P	probably damaging	Het
Lamc2	A	T	1: 153,041,962 (GRCm39)	N57K	probably benign	Het
Lingo1	A	G	9: 56,527,365 (GRCm39)	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,954,131 (GRCm39)	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,564,979 (GRCm39)	L545S	probably damaging	Het
Nup188	T	A	2: 30,213,648 (GRCm39)		probably null	Het
Or10q1	A	G	19: 13,727,298 (GRCm39)	D276G	probably benign	Het
Or11a4	A	G	17: 37,536,217 (GRCm39)	N67S	probably damaging	Het
Or5b94	T	C	19: 12,651,602 (GRCm39)	I11T	probably damaging	Het
Pls1	A	T	9: 95,666,236 (GRCm39)	N138K	probably benign	Het
Prkch	C	A	12: 73,749,286 (GRCm39)	N345K	probably benign	Het
Reps1	T	C	10: 17,931,865 (GRCm39)		probably null	Het
Scart2	A	T	7: 139,876,453 (GRCm39)	N526Y	probably damaging	Het
Scn1a	T	A	2: 66,108,005 (GRCm39)	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,476,215 (GRCm39)	E602G	probably damaging	Het
Syvn1	T	C	19: 6,100,123 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 39,000,014 (GRCm39)	D267G	probably damaging	Het
Topbp1	A	G	9: 103,205,722 (GRCm39)	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,615,051 (GRCm39)	S180R	probably damaging	Het
Zfp345	T	A	2: 150,316,463 (GRCm39)	E48D	possibly damaging	Het
Zfp608	G	A	18: 55,030,509 (GRCm39)	Q1144*	probably null	Het
Zfp936	T	A	7: 42,836,691 (GRCm39)	L34Q	probably damaging	Het

Other mutations in Rrp7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Rrp7a	APN	15	83,002,282 (GRCm39)	missense	probably benign	0.34
IGL02524:Rrp7a	APN	15	83,002,379 (GRCm39)	unclassified	probably benign
R4944:Rrp7a	UTSW	15	83,004,010 (GRCm39)	unclassified	probably benign
R6284:Rrp7a	UTSW	15	83,006,061 (GRCm39)	missense	probably damaging	1.00
R7284:Rrp7a	UTSW	15	83,006,071 (GRCm39)	missense	probably damaging	0.96
R7548:Rrp7a	UTSW	15	83,001,871 (GRCm39)	missense	possibly damaging	0.85
R8018:Rrp7a	UTSW	15	83,001,125 (GRCm39)	missense	possibly damaging	0.49
R8437:Rrp7a	UTSW	15	83,001,773 (GRCm39)	missense	probably damaging	1.00
R9445:Rrp7a	UTSW	15	83,004,084 (GRCm39)	nonsense	probably null
R9650:Rrp7a	UTSW	15	83,004,091 (GRCm39)	critical splice donor site	probably null
Z1177:Rrp7a	UTSW	15	83,006,339 (GRCm39)	intron	probably benign

Posted On

2015-04-16