Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01335:6820408C15Rik'

74586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

6820408C15Rik

Ensembl Gene

ENSMUSG00000032680

Gene Name

RIKEN cDNA 6820408C15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

152257507-152286250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152284307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 300 (M300K)

Ref Sequence

ENSEMBL: ENSMUSP00000037024 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039961] [ENSMUST00000128737] [ENSMUST00000153713]

AlphaFold

Q8BJX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039961
AA Change: M300K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037024
Gene: ENSMUSG00000032680
AA Change: M300K

Domain	Start	End	E-Value	Type
Pfam:DUF4618	96	353	4.1e-105	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128737

SMART Domains

Protein: ENSMUSP00000117627
Gene: ENSMUSG00000032680

Domain	Start	End	E-Value	Type
Pfam:DUF4618	97	158	1.4e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153713

SMART Domains

Protein: ENSMUSP00000120724
Gene: ENSMUSG00000032680

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	A	10: 61,034,460 (GRCm39)	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,423,981 (GRCm39)	Y1083C	probably damaging	Het
Anxa8	T	C	14: 33,811,547 (GRCm39)	M34T	probably damaging	Het
Aox1	G	T	1: 58,121,312 (GRCm39)	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628 (GRCm39)	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,296,298 (GRCm39)	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,260,530 (GRCm39)		probably benign	Het
Cdh6	C	T	15: 13,051,395 (GRCm39)	A413T	probably benign	Het
Cfap96	A	T	8: 46,426,642 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,623,492 (GRCm39)	Q294R	probably damaging	Het
Cit	C	T	5: 116,046,889 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,690,497 (GRCm39)	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,743,618 (GRCm39)	G107E	probably damaging	Het
Gja8	T	C	3: 96,826,558 (GRCm39)	Q368R	probably benign	Het
Gm3633	T	A	14: 42,462,595 (GRCm39)		probably benign	Het
Gm4987	A	T	X: 45,544,755 (GRCm39)		noncoding transcript	Het
Gna13	G	A	11: 109,256,569 (GRCm39)	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,658,057 (GRCm39)	E351D	probably damaging	Het
Idua	A	G	5: 108,828,737 (GRCm39)	Q280R	probably benign	Het
Igsf5	T	A	16: 96,174,353 (GRCm39)		probably benign	Het
Mrpl52	T	C	14: 54,664,656 (GRCm39)	Y39H	probably damaging	Het
Naa16	A	T	14: 79,582,556 (GRCm39)		probably benign	Het
Naa35	T	A	13: 59,764,610 (GRCm39)	L338Q	probably damaging	Het
Nat8l	A	T	5: 34,155,791 (GRCm39)	Y149F	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,347,520 (GRCm39)	S351R	probably benign	Het
Or10w1	A	T	19: 13,632,540 (GRCm39)	H249L	probably damaging	Het
Or12e10	A	T	2: 87,640,790 (GRCm39)	T209S	probably damaging	Het
Or6c8b	T	C	10: 128,882,380 (GRCm39)	K184R	probably benign	Het
Or8k1	A	T	2: 86,047,916 (GRCm39)	L46Q	probably damaging	Het
Pacs1	A	T	19: 5,192,660 (GRCm39)	V624E	probably damaging	Het
Pde6b	G	A	5: 108,571,379 (GRCm39)	R444H	probably benign	Het
Pigk	A	T	3: 152,448,173 (GRCm39)	T226S	probably benign	Het
Prkdc	T	C	16: 15,634,760 (GRCm39)		probably null	Het
Ptbp1	G	A	10: 79,698,708 (GRCm39)		probably null	Het
Pyroxd1	T	C	6: 142,307,484 (GRCm39)	V418A	probably damaging	Het
Rhot1	A	T	11: 80,141,055 (GRCm39)	D421V	probably damaging	Het
Rimkla	T	C	4: 119,335,156 (GRCm39)	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,355,124 (GRCm39)	V274A	probably benign	Het
Tatdn2	T	A	6: 113,681,017 (GRCm39)	M289K	probably benign	Het
Trak1	A	G	9: 121,283,382 (GRCm39)	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,488,410 (GRCm39)	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,484,644 (GRCm39)	C127S	probably damaging	Het
Uimc1	T	A	13: 55,182,724 (GRCm39)	Q619L	probably benign	Het
Upk3a	T	A	15: 84,903,786 (GRCm39)	Y162N	probably damaging	Het
Usp33	T	C	3: 152,097,854 (GRCm39)	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,832,732 (GRCm39)	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,434,602 (GRCm39)	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,484,087 (GRCm39)	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,488,239 (GRCm39)	E756G	possibly damaging	Het
Xlr3c	C	A	X: 72,303,639 (GRCm39)	V102F	probably benign	Het
Zfp384	T	G	6: 125,002,016 (GRCm39)	D220E	probably benign	Het
Zfp521	A	T	18: 13,977,776 (GRCm39)	V879E	probably benign	Het

Other mutations in 6820408C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01986:6820408C15Rik	APN	2	152,282,956 (GRCm39)	missense	possibly damaging	0.84
IGL02153:6820408C15Rik	APN	2	152,283,161 (GRCm39)	missense	probably benign	0.06
IGL02178:6820408C15Rik	APN	2	152,269,921 (GRCm39)	splice site	probably benign
IGL03339:6820408C15Rik	APN	2	152,284,376 (GRCm39)	missense	probably damaging	1.00
R0468:6820408C15Rik	UTSW	2	152,283,186 (GRCm39)	missense	probably benign	0.01
R1624:6820408C15Rik	UTSW	2	152,276,031 (GRCm39)	missense	probably damaging	0.98
R1642:6820408C15Rik	UTSW	2	152,282,774 (GRCm39)	missense	probably damaging	1.00
R2420:6820408C15Rik	UTSW	2	152,270,921 (GRCm39)	missense	probably damaging	1.00
R3109:6820408C15Rik	UTSW	2	152,284,376 (GRCm39)	missense	probably damaging	1.00
R3153:6820408C15Rik	UTSW	2	152,282,744 (GRCm39)	missense	probably damaging	1.00
R3154:6820408C15Rik	UTSW	2	152,282,744 (GRCm39)	missense	probably damaging	1.00
R3875:6820408C15Rik	UTSW	2	152,276,000 (GRCm39)	missense	probably benign
R4237:6820408C15Rik	UTSW	2	152,270,873 (GRCm39)	missense	possibly damaging	0.46
R4746:6820408C15Rik	UTSW	2	152,282,685 (GRCm39)	missense	probably benign	0.13
R4957:6820408C15Rik	UTSW	2	152,286,013 (GRCm39)	missense	probably damaging	1.00
R4959:6820408C15Rik	UTSW	2	152,282,808 (GRCm39)	missense	possibly damaging	0.90
R4973:6820408C15Rik	UTSW	2	152,282,808 (GRCm39)	missense	possibly damaging	0.90
R5261:6820408C15Rik	UTSW	2	152,282,777 (GRCm39)	missense	probably damaging	1.00
R5399:6820408C15Rik	UTSW	2	152,282,788 (GRCm39)	missense	probably damaging	1.00
R5971:6820408C15Rik	UTSW	2	152,282,790 (GRCm39)	missense	probably damaging	1.00
R6138:6820408C15Rik	UTSW	2	152,282,790 (GRCm39)	missense	probably damaging	1.00
R6223:6820408C15Rik	UTSW	2	152,269,873 (GRCm39)	missense	probably benign	0.00
R6379:6820408C15Rik	UTSW	2	152,269,912 (GRCm39)	missense	probably benign	0.01
R6642:6820408C15Rik	UTSW	2	152,282,790 (GRCm39)	missense	probably damaging	1.00
R6815:6820408C15Rik	UTSW	2	152,282,975 (GRCm39)	missense	probably benign	0.29
R8083:6820408C15Rik	UTSW	2	152,282,987 (GRCm39)	missense	possibly damaging	0.94
R8367:6820408C15Rik	UTSW	2	152,284,417 (GRCm39)	splice site	probably null
R8534:6820408C15Rik	UTSW	2	152,283,182 (GRCm39)	missense	probably damaging	0.98
R9567:6820408C15Rik	UTSW	2	152,270,867 (GRCm39)	missense	probably damaging	1.00
U15987:6820408C15Rik	UTSW	2	152,282,790 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07