Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02660:6030458C11Rik'

302520

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

6030458C11Rik

Ensembl Gene

ENSMUSG00000022195

Gene Name

RIKEN cDNA 6030458C11 gene

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

IGL02660

Quality Score

Status

Chromosome

Chromosomal Location

12808263-12824735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12810853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 341 (L341P)

Ref Sequence

ENSEMBL: ENSMUSP00000154605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057256] [ENSMUST00000227299] [ENSMUST00000228177]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057256
AA Change: L425P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055656
Gene: ENSMUSG00000022195
AA Change: L425P

Domain	Start	End	E-Value	Type
Pfam:UPF0489	19	256	7.2e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227299
AA Change: L341P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227821

Predicted Effect

probably damaging
Transcript: ENSMUST00000228177
AA Change: L324P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,577,669 (GRCm39)	N206K	probably damaging	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Ankmy1	A	T	1: 92,823,816 (GRCm39)	M150K	probably damaging	Het
Ap3b2	T	C	7: 81,115,446 (GRCm39)	D680G	probably benign	Het
Asxl3	T	A	18: 22,657,402 (GRCm39)	V1804D	probably damaging	Het
Bace2	T	C	16: 97,216,340 (GRCm39)	V311A	probably damaging	Het
C2cd4c	T	A	10: 79,449,136 (GRCm39)	T4S	probably benign	Het
C2cd6	T	C	1: 59,090,389 (GRCm39)	Y456C	probably damaging	Het
Cbr1	A	G	16: 93,406,712 (GRCm39)	S143G	probably benign	Het
Ccdc191	A	G	16: 43,780,462 (GRCm39)	T815A	probably benign	Het
Cenpf	T	A	1: 189,386,979 (GRCm39)	Q1767L	probably damaging	Het
Col6a5	A	C	9: 105,814,085 (GRCm39)	N642K	unknown	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Ephb1	A	T	9: 101,918,291 (GRCm39)	I406N	possibly damaging	Het
F13a1	A	G	13: 37,127,868 (GRCm39)	V370A	possibly damaging	Het
Gm14403	A	T	2: 177,201,257 (GRCm39)	H401L	probably damaging	Het
Gp6	T	G	7: 4,387,997 (GRCm39)	R157S	probably benign	Het
Gucy2e	G	A	11: 69,122,833 (GRCm39)	T514I	probably benign	Het
H2ac1	T	C	13: 24,118,608 (GRCm39)	V55A	probably damaging	Het
Mok	A	G	12: 110,794,499 (GRCm39)	I63T	probably damaging	Het
Otop1	T	C	5: 38,445,349 (GRCm39)	V169A	probably damaging	Het
Pdzph1	T	A	17: 59,187,642 (GRCm39)	T1193S	probably damaging	Het
Plekha7	A	G	7: 115,756,809 (GRCm39)		probably benign	Het
Plekhm1	A	T	11: 103,264,920 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,435,787 (GRCm39)	Y587H	probably damaging	Het
Scaf1	C	A	7: 44,661,542 (GRCm39)		probably benign	Het
Sema3f	A	T	9: 107,561,183 (GRCm39)	F601Y	probably benign	Het
Shoc2	T	C	19: 53,976,452 (GRCm39)	I114T	probably benign	Het
Skint10	T	A	4: 112,622,227 (GRCm39)		probably benign	Het
Slc18b1	T	C	10: 23,686,850 (GRCm39)		probably benign	Het
Slco5a1	A	G	1: 13,059,860 (GRCm39)	L287P	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Trim5	C	A	7: 103,915,425 (GRCm39)	R296L	probably damaging	Het
Vmn2r60	G	T	7: 41,791,720 (GRCm39)	E548*	probably null	Het
Wdr26	A	T	1: 181,026,463 (GRCm39)	W251R	probably damaging	Het

Other mutations in 6030458C11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:6030458C11Rik	APN	15	12,815,958 (GRCm39)	nonsense	probably null
IGL02366:6030458C11Rik	APN	15	12,810,859 (GRCm39)	missense	probably benign	0.40
R1869:6030458C11Rik	UTSW	15	12,817,993 (GRCm39)	missense	probably damaging	1.00
R5919:6030458C11Rik	UTSW	15	12,823,754 (GRCm39)	missense	probably damaging	1.00
R6853:6030458C11Rik	UTSW	15	12,818,031 (GRCm39)	missense	probably benign
R6875:6030458C11Rik	UTSW	15	12,812,154 (GRCm39)	missense	probably damaging	0.98
R8013:6030458C11Rik	UTSW	15	12,824,615 (GRCm39)	missense	probably benign	0.15
R8014:6030458C11Rik	UTSW	15	12,824,615 (GRCm39)	missense	probably benign	0.15
R8460:6030458C11Rik	UTSW	15	12,818,545 (GRCm39)	intron	probably benign

Posted On

2015-04-16