Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01594:D030068K23Rik'

91677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D030068K23Rik

Ensembl Gene

ENSMUSG00000097393

Gene Name

RIKEN cDNA D030068K23 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

IGL01594

Quality Score

Status

Chromosome

Chromosomal Location

109801854-109980271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109978009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 52 (Q52L)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000079189
AA Change: Q52L

SMART Domains

Protein: ENSMUSP00000078185
Gene: ENSMUSG00000057387
AA Change: Q52L

Domain	Start	End	E-Value	Type
transmembrane domain	179	201	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181098

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,996,071 (GRCm39)		probably null	Het
Acss1	A	T	2: 150,463,450 (GRCm39)	V618E	probably damaging	Het
Adgrg6	T	C	10: 14,310,084 (GRCm39)	N774D	probably damaging	Het
Atp9a	A	G	2: 168,532,932 (GRCm39)	V134A	probably damaging	Het
Csmd3	T	A	15: 47,492,635 (GRCm39)	T3169S	probably benign	Het
Dnah5	T	C	15: 28,311,480 (GRCm39)	S1820P	possibly damaging	Het
Fem1c	A	C	18: 46,639,343 (GRCm39)	S220A	probably benign	Het
Gm10305	G	A	4: 99,161,414 (GRCm39)	D108N	unknown	Het
Gtdc1	A	G	2: 44,481,891 (GRCm39)		probably null	Het
Il2ra	T	C	2: 11,685,207 (GRCm39)	V181A	possibly damaging	Het
Lrrn1	T	C	6: 107,544,454 (GRCm39)	I84T	probably damaging	Het
Map3k1	T	A	13: 111,894,723 (GRCm39)		probably null	Het
Mical1	T	G	10: 41,356,325 (GRCm39)	Y293D	probably damaging	Het
Mpzl1	T	C	1: 165,421,161 (GRCm39)	D266G	probably damaging	Het
Or55b4	C	A	7: 102,134,254 (GRCm39)	M24I	probably benign	Het
Pabpc4l	A	T	3: 46,401,581 (GRCm39)	V21D	probably damaging	Het
Prdm10	T	C	9: 31,258,149 (GRCm39)	C525R	probably damaging	Het
Ptprj	C	A	2: 90,271,139 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,537,981 (GRCm39)	F4S	probably damaging	Het
Ryr3	G	A	2: 112,603,073 (GRCm39)	T2457I	probably damaging	Het
Scn3a	A	G	2: 65,291,775 (GRCm39)	I1657T	probably damaging	Het
Sema6a	A	G	18: 47,381,884 (GRCm39)	S888P	probably damaging	Het
Slc37a1	T	A	17: 31,538,122 (GRCm39)	Y148*	probably null	Het
Tex10	T	C	4: 48,469,906 (GRCm39)	N53S	possibly damaging	Het
Tyr	A	T	7: 87,133,022 (GRCm39)		probably benign	Het
Vmn2r100	A	G	17: 19,751,495 (GRCm39)	S513G	possibly damaging	Het

Other mutations in D030068K23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1611:D030068K23Rik	UTSW	8	109,975,935 (GRCm39)	missense	unknown
R4093:D030068K23Rik	UTSW	8	109,978,091 (GRCm39)	intron	noncoding transcript

Posted On

2013-12-09