Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01320:Rrp12'

74012

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: 0.956) question?

Stock #

IGL01320

Quality Score

Status

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41866375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 626 (L626P)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

AlphaFold

Q6P5B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038677
AA Change: L626P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: L626P

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,552,551 (GRCm39)	E229G	probably benign	Het
Abca16	T	A	7: 120,038,422 (GRCm39)	L368Q	probably damaging	Het
Ankrd17	A	T	5: 90,407,988 (GRCm39)	S1410T	probably damaging	Het
Asb8	A	G	15: 98,039,159 (GRCm39)		probably benign	Het
Bmal1	T	C	7: 112,902,614 (GRCm39)	I421T	probably damaging	Het
Chrdl2	A	G	7: 99,666,248 (GRCm39)	Y56C	probably damaging	Het
Crnn	T	C	3: 93,055,519 (GRCm39)	S102P	probably damaging	Het
Cyb5a	T	C	18: 84,897,648 (GRCm39)	I115T	probably damaging	Het
Daw1	T	C	1: 83,175,901 (GRCm39)	I213T	possibly damaging	Het
Dcp1b	T	A	6: 119,192,036 (GRCm39)	S317R	probably benign	Het
Dnah7a	T	C	1: 53,473,205 (GRCm39)	M3474V	probably benign	Het
E2f7	G	A	10: 110,589,954 (GRCm39)	V36I	probably benign	Het
Esrp1	A	G	4: 11,384,374 (GRCm39)	I103T	possibly damaging	Het
Hap1	G	A	11: 100,240,206 (GRCm39)	T530I	probably damaging	Het
Hps3	T	C	3: 20,084,633 (GRCm39)	N185S	probably benign	Het
Klra1	T	A	6: 130,341,224 (GRCm39)	I250F	probably benign	Het
Lipn	A	G	19: 34,062,040 (GRCm39)	T332A	probably benign	Het
Ltbp4	A	G	7: 27,027,784 (GRCm39)		probably benign	Het
Ncor2	A	G	5: 125,186,991 (GRCm39)	V11A	probably benign	Het
Nipsnap2	C	T	5: 129,821,828 (GRCm39)	T108M	probably damaging	Het
Or10ab4	A	G	7: 107,654,188 (GRCm39)		probably benign	Het
Or5w22	T	A	2: 87,362,629 (GRCm39)	M84K	probably benign	Het
Ppid	A	G	3: 79,502,584 (GRCm39)	E46G	probably damaging	Het
Slc6a15	A	T	10: 103,240,606 (GRCm39)	I410F	probably benign	Het
Sorcs1	A	G	19: 50,276,517 (GRCm39)		probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
St8sia5	A	T	18: 77,342,318 (GRCm39)	T307S	probably damaging	Het
Stac2	T	C	11: 97,930,921 (GRCm39)		probably null	Het
Tiam2	T	C	17: 3,556,020 (GRCm39)	L77P	probably damaging	Het
Tmem87b	G	T	2: 128,673,136 (GRCm39)	G190V	probably damaging	Het
Trav7-6	T	C	14: 53,954,565 (GRCm39)	S32P	possibly damaging	Het
Unc45b	A	G	11: 82,803,219 (GRCm39)		probably null	Het
Wnt1	C	A	15: 98,690,404 (GRCm39)	D244E	possibly 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
IGL01479:Rrp12	APN	19	41,853,641 (GRCm39)	missense	probably benign	0.05
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

2013-10-07