Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02078:Rimkla'

283364

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rimkla

Ensembl Gene

ENSMUSG00000048899

Gene Name

ribosomal modification protein rimK-like family member A

Synonyms

Rimk, NAAGS-II

Accession Numbers

Essential gene?

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

Stock #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

119322480-119349795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119325344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 355 (L355P)

Ref Sequence

ENSEMBL: ENSMUSP00000058996 (fasta)

Gene Model

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

AlphaFold

Q6PFX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049994
AA Change: L355P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000058996
Gene: ENSMUSG00000048899
AA Change: L355P

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: ENSMUST00000129150

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,888,179 (GRCm39)	D87G	probably benign	Het
Acap1	C	T	11: 69,786,112 (GRCm39)	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,499,179 (GRCm39)	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,576,498 (GRCm39)	P112S	possibly damaging	Het
Chst8	T	A	7: 34,374,759 (GRCm39)	N360I	possibly damaging	Het
Cldn23	A	T	8: 36,293,359 (GRCm39)	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232 (GRCm39)	F168S	probably damaging	Het
Cyp2c40	T	C	19: 39,755,926 (GRCm39)	I463V	probably benign	Het
E2f2	A	G	4: 135,920,323 (GRCm39)	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,622,611 (GRCm39)	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878 (GRCm39)	A60V	probably damaging	Het
Grm1	C	T	10: 10,565,354 (GRCm39)	V985M	probably benign	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Inf2	T	A	12: 112,568,048 (GRCm39)	V200E	probably damaging	Het
Kif20b	T	A	19: 34,913,044 (GRCm39)	V319E	probably damaging	Het
Klhl10	A	G	11: 100,336,577 (GRCm39)	D188G	probably benign	Het
Mobp	G	A	9: 119,996,980 (GRCm39)	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,153,204 (GRCm39)	D1086V	probably damaging	Het
Nadk	A	C	4: 155,663,860 (GRCm39)		probably benign	Het
Or7g33	T	A	9: 19,448,749 (GRCm39)	H159L	probably benign	Het
Per1	A	G	11: 68,995,125 (GRCm39)	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,796,652 (GRCm39)		probably benign	Het
Rnf139	A	G	15: 58,771,880 (GRCm39)	D635G	possibly damaging	Het
Sall1	T	A	8: 89,757,003 (GRCm39)	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,926,688 (GRCm39)	Q228L	probably damaging	Het
Sin3b	G	T	8: 73,480,208 (GRCm39)	M903I	possibly damaging	Het
Slco1a5	A	T	6: 142,200,172 (GRCm39)	M204K	probably benign	Het
Smo	A	G	6: 29,754,707 (GRCm39)	D259G	possibly damaging	Het
Spata31g1	A	C	4: 42,972,685 (GRCm39)	K673Q	possibly damaging	Het
Sult2a4	T	C	7: 13,723,469 (GRCm39)	I15M	probably benign	Het
Ttn	T	A	2: 76,772,785 (GRCm39)		probably null	Het
Wdtc1	C	A	4: 133,033,271 (GRCm39)	D176Y	probably damaging	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
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
R0654:Rimkla	UTSW	4	119,335,177 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16