Mutagenetix > Incidental Mutation

Incidental Mutation 'R6407:Rrp12'

514514

Institutional Source

Beutler Lab

Gene Symbol

Rrp12

Ensembl Gene

ENSMUSG00000035049

Gene Name

ribosomal RNA processing 12 homolog

Synonyms

MMRRC Submission

044552-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6407 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41851290-41884612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41872181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 432 (V432M)

Ref Sequence

ENSEMBL: ENSMUSP00000039853 (fasta)

Gene Model

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

AlphaFold

Q6P5B0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038677
AA Change: V432M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: V432M

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

Meta Mutation Damage Score

0.4532

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,422,809 (GRCm39)	Y1963C	probably benign	Het
Bptf	T	A	11: 107,001,952 (GRCm39)	N387Y	probably damaging	Het
C1ql2	T	C	1: 120,269,340 (GRCm39)	L165P	probably damaging	Het
Col5a2	C	A	1: 45,415,938 (GRCm39)	C1403F	probably damaging	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Htr3a	G	T	9: 48,812,355 (GRCm39)	Y250*	probably null	Het
Ighg2c	T	C	12: 113,252,271 (GRCm39)	K94E	unknown	Het
Ighg3	T	C	12: 113,323,770 (GRCm39)	N206S	unknown	Het
Il36rn	A	G	2: 24,171,365 (GRCm39)	Y151C	probably damaging	Het
Kif22	G	A	7: 126,632,375 (GRCm39)	R312C	probably damaging	Het
Lap3	T	A	5: 45,669,267 (GRCm39)	V472E	probably damaging	Het
Mast3	T	C	8: 71,234,772 (GRCm39)	T762A	probably benign	Het
Mfsd12	T	C	10: 81,198,067 (GRCm39)		probably null	Het
Mrpl39	T	C	16: 84,529,273 (GRCm39)	K123R	probably benign	Het
Mup8	T	A	4: 60,220,394 (GRCm39)	T113S	possibly damaging	Het
Nhp2	T	C	11: 51,510,730 (GRCm39)	V29A	probably benign	Het
Or14a260	T	C	7: 85,985,277 (GRCm39)	E109G	possibly damaging	Het
Pex3	T	C	10: 13,422,112 (GRCm39)	R63G	probably damaging	Het
Pfkl	A	G	10: 77,824,507 (GRCm39)		probably null	Het
Rims2	T	C	15: 39,315,724 (GRCm39)	S617P	probably damaging	Het
Rnf223	A	T	4: 156,216,816 (GRCm39)	T64S	probably damaging	Het
Sag	T	C	1: 87,742,528 (GRCm39)	V100A	probably benign	Het
Slc17a7	C	T	7: 44,819,350 (GRCm39)	A167V	probably benign	Het
Slc38a6	T	C	12: 73,356,949 (GRCm39)	F115S	probably damaging	Het
Spata31h1	A	G	10: 82,129,645 (GRCm39)	S1122P	probably benign	Het
Spdye4a	T	C	5: 143,211,454 (GRCm39)	T37A	probably benign	Het
Sphk2	T	C	7: 45,362,024 (GRCm39)	T138A	possibly damaging	Het
Srgap3	T	C	6: 112,699,967 (GRCm39)	S1004G	probably damaging	Het
Sult1a1	T	C	7: 126,272,356 (GRCm39)		probably null	Het
Tmem212	A	G	3: 27,938,988 (GRCm39)	V166A	probably benign	Het
Tor4a	A	G	2: 25,084,952 (GRCm39)	L317P	probably benign	Het
Trim43c	A	T	9: 88,722,467 (GRCm39)	T38S	probably benign	Het
Tshz1	C	A	18: 84,034,091 (GRCm39)	V106F	possibly damaging	Het
Tut4	G	T	4: 108,415,979 (GRCm39)	E1648D	probably damaging	Het
Yap1	A	G	9: 7,962,373 (GRCm39)	M225T	possibly damaging	Het
Zfp74	T	C	7: 29,635,048 (GRCm39)	E220G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCCTTCAGGATCTCCTACAGAG -3'
(R):5'- TTCCACAGGAGCGTTCTGTC -3'

Sequencing Primer
(F):5'- CAGGCCGTCTAGTTCAAGGTATAC -3'
(R):5'- ACAGGAGCGTTCTGTCCTGAC -3'

Posted On

2018-05-04