Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01479:Rrp12'

88544

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01479

Quality Score

Status

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41853641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1251 (V1251A)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038677]

AlphaFold

Q6P5B0

Predicted Effect

probably benign
Transcript: ENSMUST00000038677
AA Change: V1251A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: V1251A

Domain	Start	End	E-Value	Type
low complexity region	164	175	N/A	INTRINSIC
Pfam:NUC173	473	670	1.2e-72	PFAM
SCOP:d1qbkb_	711	1087	2e-6	SMART
low complexity region	1157	1184	N/A	INTRINSIC
low complexity region	1231	1243	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,322,934 (GRCm39)	K225R	probably benign	Het
Amn	C	A	12: 111,238,227 (GRCm39)	A47E	probably damaging	Het
Arhgef1	T	C	7: 24,612,028 (GRCm39)	I137T	probably benign	Het
Cep57l1	T	C	10: 41,604,635 (GRCm39)	K165E	possibly damaging	Het
Chfr	A	G	5: 110,292,859 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,846,543 (GRCm39)	V2923A	probably benign	Het
Dnaja2	T	C	8: 86,280,580 (GRCm39)	Y35C	probably damaging	Het
Dnajc2	T	C	5: 21,962,891 (GRCm39)	T481A	probably damaging	Het
Foxred2	A	G	15: 77,836,489 (GRCm39)		probably null	Het
Gin1	C	T	1: 97,720,097 (GRCm39)	T364I	possibly damaging	Het
Glt8d2	C	T	10: 82,496,570 (GRCm39)	V163I	probably damaging	Het
Gm10118	T	C	10: 63,762,599 (GRCm39)		probably benign	Het
Hps5	C	T	7: 46,412,366 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,261,738 (GRCm39)	K638E	probably benign	Het
L3mbtl2	A	G	15: 81,560,593 (GRCm39)	T285A	probably benign	Het
Mab21l1	A	G	3: 55,691,253 (GRCm39)	Y280C	probably damaging	Het
Mcoln2	T	A	3: 145,881,407 (GRCm39)		probably benign	Het
Myo9b	G	T	8: 71,811,986 (GRCm39)	R1926L	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,168 (GRCm39)	D200G	probably damaging	Het
Sbsn	G	A	7: 30,451,782 (GRCm39)	A266T	possibly damaging	Het
Sgca	A	T	11: 94,854,204 (GRCm39)	C335*	probably null	Het
Spag1	T	C	15: 36,233,345 (GRCm39)		probably benign	Het
Sult6b1	A	T	17: 79,213,005 (GRCm39)	V82D	probably benign	Het
Tigit	T	C	16: 43,479,885 (GRCm39)	T137A	probably benign	Het
Tmem125	G	A	4: 118,398,820 (GRCm39)	Q204*	probably null	Het
Tmem59l	C	T	8: 70,938,748 (GRCm39)	R111Q	probably benign	Het
Vmn2r95	G	A	17: 18,664,124 (GRCm39)	G448R	probably damaging	Het
Zfp64	T	C	2: 168,793,599 (GRCm39)	H49R	probably damaging	Het

Other mutations in Rrp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Rrp12	APN	19	41,875,533 (GRCm39)	missense	possibly damaging	0.94
IGL00430:Rrp12	APN	19	41,865,773 (GRCm39)	critical splice donor site	probably null
IGL00496:Rrp12	APN	19	41,866,466 (GRCm39)	critical splice donor site	probably null
IGL00953:Rrp12	APN	19	41,860,231 (GRCm39)	missense	possibly damaging	0.51
IGL01320:Rrp12	APN	19	41,866,375 (GRCm39)	missense	probably damaging	1.00
IGL01939:Rrp12	APN	19	41,859,334 (GRCm39)	missense	probably damaging	0.99
IGL02147:Rrp12	APN	19	41,874,620 (GRCm39)	missense	probably damaging	1.00
IGL02255:Rrp12	APN	19	41,861,410 (GRCm39)	missense	probably damaging	1.00
IGL02756:Rrp12	APN	19	41,884,500 (GRCm39)	missense	probably benign	0.03
IGL02793:Rrp12	APN	19	41,860,005 (GRCm39)	missense	probably damaging	1.00
IGL03026:Rrp12	APN	19	41,861,436 (GRCm39)	missense	probably damaging	1.00
IGL03202:Rrp12	APN	19	41,857,205 (GRCm39)	splice site	probably null
IGL03393:Rrp12	APN	19	41,860,232 (GRCm39)	missense	possibly damaging	0.91
R0137:Rrp12	UTSW	19	41,862,289 (GRCm39)	missense	probably benign
R0234:Rrp12	UTSW	19	41,860,199 (GRCm39)	missense	probably damaging	1.00
R0234:Rrp12	UTSW	19	41,860,199 (GRCm39)	missense	probably damaging	1.00
R0522:Rrp12	UTSW	19	41,863,144 (GRCm39)	splice site	probably benign
R0616:Rrp12	UTSW	19	41,880,988 (GRCm39)	missense	possibly damaging	0.95
R1509:Rrp12	UTSW	19	41,870,639 (GRCm39)	missense	probably damaging	1.00
R1537:Rrp12	UTSW	19	41,875,242 (GRCm39)	missense	probably damaging	0.97
R1593:Rrp12	UTSW	19	41,851,680 (GRCm39)	missense	probably benign	0.00
R1635:Rrp12	UTSW	19	41,857,224 (GRCm39)	missense	probably benign	0.00
R1642:Rrp12	UTSW	19	41,860,176 (GRCm39)	missense	probably damaging	1.00
R1696:Rrp12	UTSW	19	41,862,188 (GRCm39)	missense	probably damaging	1.00
R1827:Rrp12	UTSW	19	41,868,920 (GRCm39)	missense	possibly damaging	0.95
R1844:Rrp12	UTSW	19	41,866,222 (GRCm39)	critical splice donor site	probably null
R1950:Rrp12	UTSW	19	41,881,029 (GRCm39)	missense	probably damaging	1.00
R2010:Rrp12	UTSW	19	41,861,376 (GRCm39)	missense	probably benign
R2115:Rrp12	UTSW	19	41,879,533 (GRCm39)	missense	probably benign	0.38
R2136:Rrp12	UTSW	19	41,881,038 (GRCm39)	missense	probably damaging	1.00
R2386:Rrp12	UTSW	19	41,859,723 (GRCm39)	missense	probably benign	0.41
R3741:Rrp12	UTSW	19	41,874,167 (GRCm39)	missense	probably damaging	1.00
R4096:Rrp12	UTSW	19	41,875,587 (GRCm39)	missense	probably benign	0.32
R4292:Rrp12	UTSW	19	41,861,344 (GRCm39)	splice site	probably null
R4407:Rrp12	UTSW	19	41,880,990 (GRCm39)	missense	probably damaging	1.00
R4629:Rrp12	UTSW	19	41,871,955 (GRCm39)	missense	probably benign	0.03
R4698:Rrp12	UTSW	19	41,861,481 (GRCm39)	missense	probably benign	0.12
R4702:Rrp12	UTSW	19	41,859,975 (GRCm39)	missense	probably damaging	1.00
R4716:Rrp12	UTSW	19	41,865,867 (GRCm39)	missense	probably damaging	1.00
R4837:Rrp12	UTSW	19	41,865,944 (GRCm39)	splice site	probably null
R5282:Rrp12	UTSW	19	41,865,029 (GRCm39)	missense	probably benign
R5327:Rrp12	UTSW	19	41,881,035 (GRCm39)	missense	probably damaging	1.00
R5621:Rrp12	UTSW	19	41,868,856 (GRCm39)	missense	probably benign
R5762:Rrp12	UTSW	19	41,868,591 (GRCm39)	missense	possibly damaging	0.88
R5947:Rrp12	UTSW	19	41,859,247 (GRCm39)	critical splice donor site	probably null
R6213:Rrp12	UTSW	19	41,857,217 (GRCm39)	missense	probably benign
R6407:Rrp12	UTSW	19	41,872,181 (GRCm39)	missense	probably damaging	0.98
R6980:Rrp12	UTSW	19	41,878,582 (GRCm39)	missense	probably damaging	0.98
R7179:Rrp12	UTSW	19	41,872,217 (GRCm39)	missense	probably benign	0.03
R7186:Rrp12	UTSW	19	41,859,744 (GRCm39)	critical splice acceptor site	probably null
R7194:Rrp12	UTSW	19	41,859,979 (GRCm39)	missense	probably benign
R7206:Rrp12	UTSW	19	41,866,478 (GRCm39)	missense	probably damaging	1.00
R7209:Rrp12	UTSW	19	41,861,388 (GRCm39)	missense	possibly damaging	0.62
R7248:Rrp12	UTSW	19	41,871,877 (GRCm39)	missense	possibly damaging	0.82
R7976:Rrp12	UTSW	19	41,879,548 (GRCm39)	missense	probably benign	0.04
R8075:Rrp12	UTSW	19	41,851,713 (GRCm39)	missense	probably damaging	0.96
R8322:Rrp12	UTSW	19	41,868,658 (GRCm39)	missense	probably benign	0.09
R9010:Rrp12	UTSW	19	41,871,929 (GRCm39)	missense	probably benign	0.11
R9026:Rrp12	UTSW	19	41,860,223 (GRCm39)	missense	probably benign	0.45
R9029:Rrp12	UTSW	19	41,859,718 (GRCm39)	nonsense	probably null
R9096:Rrp12	UTSW	19	41,878,577 (GRCm39)	missense	probably benign	0.11
R9097:Rrp12	UTSW	19	41,878,577 (GRCm39)	missense	probably benign	0.11
R9168:Rrp12	UTSW	19	41,865,603 (GRCm39)	missense	probably benign	0.01
R9709:Rrp12	UTSW	19	41,857,231 (GRCm39)	missense	probably benign
Z1177:Rrp12	UTSW	19	41,854,006 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-18