Mutagenetix > Incidental Mutation

Incidental Mutation 'R0654:Rimkla'

62424

Institutional Source

Beutler Lab

Gene Symbol

Rimkla

Ensembl Gene

ENSMUSG00000048899

Gene Name

ribosomal modification protein rimK-like family member A

Synonyms

Rimk, NAAGS-II

MMRRC Submission

038839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R0654 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

119322480-119349795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119335177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 69 (V69M)

Ref Sequence

ENSEMBL: ENSMUSP00000058996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049994]

AlphaFold

Q6PFX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049994
AA Change: V69M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: V69M

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
Pfam:ATP-grasp_4	107	279	3.6e-12	PFAM
Pfam:ATP-grasp_3	108	279	8.7e-9	PFAM
Pfam:RimK	108	299	7.2e-43	PFAM
Pfam:GSH-S_ATP	124	271	2.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126728

Meta Mutation Damage Score

0.4797

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb13	A	C	13: 3,692,092 (GRCm39)	H24P	probably damaging	Het
Avpr1b	T	A	1: 131,527,480 (GRCm39)	M1K	probably null	Het
Baz1a	T	C	12: 54,958,182 (GRCm39)	E1023G	probably benign	Het
Bpifb5	A	G	2: 154,070,820 (GRCm39)	T204A	probably benign	Het
Cfap157	C	T	2: 32,669,954 (GRCm39)	V210M	probably damaging	Het
Clock	A	G	5: 76,374,976 (GRCm39)	V731A	possibly damaging	Het
Cntn6	C	T	6: 104,753,389 (GRCm39)	T447I	probably benign	Het
Dchs1	A	G	7: 105,421,556 (GRCm39)	I288T	probably damaging	Het
Far2	T	C	6: 148,076,639 (GRCm39)	F494S	possibly damaging	Het
Fibin	T	A	2: 110,192,962 (GRCm39)	D60V	probably damaging	Het
Fnd3c2	G	A	X: 105,290,760 (GRCm39)	T302I	possibly damaging	Het
Foxp3	A	G	X: 7,457,639 (GRCm39)	I281V	probably benign	Het
Fryl	A	G	5: 73,240,715 (GRCm39)	I1295T	probably benign	Het
Gpr82	T	C	X: 13,531,829 (GRCm39)	S126P	probably benign	Het
Gria4	T	A	9: 4,464,372 (GRCm39)	Q530L	probably benign	Het
Hivep1	A	C	13: 42,313,232 (GRCm39)	D1824A	probably benign	Het
Kif13a	A	G	13: 46,966,218 (GRCm39)	V400A	possibly damaging	Het
Map3k21	C	A	8: 126,668,759 (GRCm39)	L782I	probably benign	Het
Nphs2	A	C	1: 156,146,317 (GRCm39)	T98P	probably damaging	Het
Pdss2	CGGAG	CG	10: 43,097,927 (GRCm39)		probably benign	Het
Pkd2l1	A	G	19: 44,146,070 (GRCm39)		probably null	Het
Rbm28	A	T	6: 29,128,577 (GRCm39)	S48R	probably damaging	Het
Scg3	T	A	9: 75,573,017 (GRCm39)	I305F	probably damaging	Het
Slc22a1	T	A	17: 12,881,679 (GRCm39)	N310I	probably damaging	Het
Slc26a9	T	C	1: 131,692,768 (GRCm39)	V700A	probably benign	Het
Snx15	T	C	19: 6,171,915 (GRCm39)	I140V	probably benign	Het
Spryd3	C	T	15: 102,036,969 (GRCm39)		probably null	Het
Srebf1	T	C	11: 60,094,942 (GRCm39)	T486A	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tbl1xr1	T	A	3: 22,258,158 (GRCm39)		probably null	Het
Tmcc1	A	T	6: 116,019,951 (GRCm39)	H281Q	probably benign	Het
Ttc39b	T	A	4: 83,159,938 (GRCm39)	M413L	probably benign	Het
Vmn2r101	C	A	17: 19,810,373 (GRCm39)	H386Q	probably benign	Het
Zbtb47	T	C	9: 121,592,327 (GRCm39)	F251L	probably benign	Het

Other mutations in Rimkla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Rimkla	APN	4	119,335,156 (GRCm39)	missense	possibly damaging	0.76
IGL02078:Rimkla	APN	4	119,325,344 (GRCm39)	missense	probably damaging	1.00
IGL02292:Rimkla	APN	4	119,325,549 (GRCm39)	missense	probably damaging	1.00
IGL02369:Rimkla	APN	4	119,335,146 (GRCm39)	missense	possibly damaging	0.94
R0707:Rimkla	UTSW	4	119,335,177 (GRCm39)	missense	probably damaging	0.99
R1397:Rimkla	UTSW	4	119,325,308 (GRCm39)	missense	probably benign	0.43
R2146:Rimkla	UTSW	4	119,331,779 (GRCm39)	missense	possibly damaging	0.95
R2148:Rimkla	UTSW	4	119,331,779 (GRCm39)	missense	possibly damaging	0.95
R2150:Rimkla	UTSW	4	119,331,779 (GRCm39)	missense	possibly damaging	0.95
R3726:Rimkla	UTSW	4	119,334,986 (GRCm39)	critical splice donor site	probably null
R5310:Rimkla	UTSW	4	119,335,049 (GRCm39)	missense	probably damaging	1.00
R5806:Rimkla	UTSW	4	119,325,663 (GRCm39)	missense	probably damaging	1.00
R6525:Rimkla	UTSW	4	119,325,288 (GRCm39)	missense	probably benign
R7073:Rimkla	UTSW	4	119,325,275 (GRCm39)	missense	probably benign	0.11
R7294:Rimkla	UTSW	4	119,325,663 (GRCm39)	missense	probably damaging	1.00
R7431:Rimkla	UTSW	4	119,335,008 (GRCm39)	missense	probably benign	0.45
R7938:Rimkla	UTSW	4	119,327,810 (GRCm39)	missense	probably benign	0.16
R8789:Rimkla	UTSW	4	119,349,607 (GRCm39)	missense	probably damaging	1.00
R8804:Rimkla	UTSW	4	119,325,273 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAACCAGAGTCACAGCAAGTTTC -3'
(R):5'- ACCGCTTTCTTGCACCATATACCAG -3'

Sequencing Primer
(F):5'- TTTTCAGGAGACTCACCATAGGAG -3'
(R):5'- TTGCACCATATACCAGCACAC -3'

Posted On

2013-07-30