Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02049:4930568D16Rik'

185020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930568D16Rik

Ensembl Gene

ENSMUSG00000026882

Gene Name

RIKEN cDNA 4930568D16 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL02049

Quality Score

Status

Chromosome

Chromosomal Location

35244230-35257741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35254801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 27 (R27S)

Ref Sequence

ENSEMBL: ENSMUSP00000028243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028243]

AlphaFold

A2AUQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000028243
AA Change: R27S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: R27S

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	319	1.3e-101	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	C	A	14: 35,533,535 (GRCm39)	V78L	probably benign	Het
Abca3	T	A	17: 24,595,704 (GRCm39)	C352*	probably null	Het
Acat3	T	A	17: 13,144,207 (GRCm39)	Y324F	probably benign	Het
Adamts8	T	C	9: 30,862,650 (GRCm39)	V285A	probably damaging	Het
Anpep	A	G	7: 79,484,929 (GRCm39)	I652T	probably damaging	Het
Arhgef6	T	A	X: 56,321,271 (GRCm39)	Q320L	probably damaging	Het
Armh1	A	T	4: 117,094,860 (GRCm39)	I60K	probably benign	Het
Atp11b	T	C	3: 35,854,642 (GRCm39)	V145A	probably damaging	Het
Cacna1c	T	C	6: 118,580,880 (GRCm39)	T1674A	probably benign	Het
Capn2	A	T	1: 182,301,519 (GRCm39)		probably benign	Het
Cfd	A	G	10: 79,726,776 (GRCm39)	Y6C	probably benign	Het
Cps1	A	G	1: 67,183,113 (GRCm39)	K157R	possibly damaging	Het
Csmd3	T	A	15: 47,864,870 (GRCm39)	R786S	possibly damaging	Het
Dna2	A	T	10: 62,792,815 (GRCm39)	I277L	probably damaging	Het
Gm5168	A	T	X: 25,999,005 (GRCm39)	D50E	probably damaging	Het
Grik4	T	A	9: 42,455,049 (GRCm39)		probably benign	Het
Ift56	A	G	6: 38,402,067 (GRCm39)	T520A	probably benign	Het
Iqgap2	A	G	13: 95,811,913 (GRCm39)		probably benign	Het
Klk10	A	T	7: 43,433,882 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,892,187 (GRCm39)	Y250C	probably damaging	Het
Las1l	A	T	X: 94,981,059 (GRCm39)	M690K	probably benign	Het
Mug1	T	A	6: 121,848,295 (GRCm39)	M673K	probably benign	Het
Myh9	T	C	15: 77,654,070 (GRCm39)	H1245R	probably benign	Het
Oprk1	C	T	1: 5,669,067 (GRCm39)	T171I	probably damaging	Het
Pgm5	A	T	19: 24,801,782 (GRCm39)	S149T	probably benign	Het
Pla2g4a	T	C	1: 149,736,847 (GRCm39)	N424S	probably benign	Het
Plec	A	T	15: 76,063,149 (GRCm39)	L2334Q	probably damaging	Het
Pus7l	G	A	15: 94,438,059 (GRCm39)	S262F	probably damaging	Het
Rps24	C	A	14: 24,541,823 (GRCm39)	D3E	probably benign	Het
Rxfp1	T	C	3: 79,557,799 (GRCm39)	N560D	probably damaging	Het
Sema3c	C	T	5: 17,926,923 (GRCm39)		probably benign	Het
Slc47a2	A	G	11: 61,233,365 (GRCm39)	F55S	probably damaging	Het
Slco1a6	A	G	6: 142,047,309 (GRCm39)		probably benign	Het
Taf4b	A	T	18: 14,963,196 (GRCm39)	E645D	probably benign	Het
Tmem161a	T	A	8: 70,631,624 (GRCm39)	V158E	probably damaging	Het
Trav13-2	A	G	14: 53,872,604 (GRCm39)	S27G	possibly damaging	Het
Trav13-2	G	T	14: 53,872,603 (GRCm39)	Q26H	probably damaging	Het
Trav13-2	A	T	14: 53,872,602 (GRCm39)	Q26L	possibly damaging	Het
Vmn2r108	T	A	17: 20,691,608 (GRCm39)	H305L	probably benign	Het
Zfp263	A	G	16: 3,562,482 (GRCm39)	I82V	probably damaging	Het

Other mutations in 4930568D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:4930568D16Rik	APN	2	35,245,640 (GRCm39)	missense	probably benign	0.36
IGL01701:4930568D16Rik	APN	2	35,254,776 (GRCm39)	missense	possibly damaging	0.95
R0112:4930568D16Rik	UTSW	2	35,244,815 (GRCm39)	missense	probably benign	0.06
R1778:4930568D16Rik	UTSW	2	35,244,995 (GRCm39)	missense	probably damaging	1.00
R2398:4930568D16Rik	UTSW	2	35,244,872 (GRCm39)	missense	possibly damaging	0.86
R3846:4930568D16Rik	UTSW	2	35,244,570 (GRCm39)	missense	probably damaging	1.00
R4648:4930568D16Rik	UTSW	2	35,244,458 (GRCm39)	missense	probably damaging	1.00
R5239:4930568D16Rik	UTSW	2	35,244,848 (GRCm39)	missense	probably benign	0.38
R5418:4930568D16Rik	UTSW	2	35,244,738 (GRCm39)	missense	probably damaging	1.00
R5889:4930568D16Rik	UTSW	2	35,244,461 (GRCm39)	missense	probably damaging	1.00
R5951:4930568D16Rik	UTSW	2	35,244,811 (GRCm39)	missense	probably damaging	1.00
R6014:4930568D16Rik	UTSW	2	35,244,881 (GRCm39)	missense	probably benign	0.00
R6091:4930568D16Rik	UTSW	2	35,252,348 (GRCm39)	missense	possibly damaging	0.77
R7363:4930568D16Rik	UTSW	2	35,244,782 (GRCm39)	missense	probably damaging	1.00
R7773:4930568D16Rik	UTSW	2	35,244,606 (GRCm39)	missense	probably damaging	1.00
R8776:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R9108:4930568D16Rik	UTSW	2	35,244,942 (GRCm39)	missense	probably damaging	1.00
R9367:4930568D16Rik	UTSW	2	35,244,939 (GRCm39)	missense	probably benign	0.03
R9566:4930568D16Rik	UTSW	2	35,244,645 (GRCm39)	nonsense	probably null
R9673:4930568D16Rik	UTSW	2	35,244,399 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07