Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02439:2610042L04Rik'

293365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2610042L04Rik

Ensembl Gene

ENSMUSG00000079388

Gene Name

RIKEN cDNA 2610042L04 gene

Synonyms

Tksn, takusan

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02439

Quality Score

Status

Chromosome

Chromosomal Location

18115085-18135010 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4348890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 17 (Y17F)

Ref Sequence

ENSEMBL: ENSMUSP00000132127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112778] [ENSMUST00000165466]

AlphaFold

Q9D073

Predicted Effect

probably benign
Transcript: ENSMUST00000112778
AA Change: Y17F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108398
Gene: ENSMUSG00000079388
AA Change: Y17F

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	73	3.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165466
AA Change: Y17F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132127
Gene: ENSMUSG00000079388
AA Change: Y17F

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	74	2.1e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	C	5: 36,015,206 (GRCm39)	T507P	possibly damaging	Het
Arhgef28	T	C	13: 98,067,647 (GRCm39)	Y1426C	possibly damaging	Het
Cftr	T	A	6: 18,258,237 (GRCm39)	Y592*	probably null	Het
Eogt	C	T	6: 97,120,934 (GRCm39)	G93D	possibly damaging	Het
Exosc9	A	G	3: 36,607,180 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,874,582 (GRCm39)	I1329V	probably benign	Het
Gal3st1	T	C	11: 3,948,110 (GRCm39)	F106L	possibly damaging	Het
Gulp1	A	T	1: 44,820,164 (GRCm39)	I216F	probably damaging	Het
Ints13	A	T	6: 146,455,721 (GRCm39)		probably benign	Het
Kars1	G	A	8: 112,724,268 (GRCm39)	T453I	probably benign	Het
Kif14	A	G	1: 136,417,999 (GRCm39)	D844G	probably damaging	Het
Lgals3bp	A	T	11: 118,289,046 (GRCm39)	C93S	probably damaging	Het
Lst1	T	C	17: 35,405,958 (GRCm39)	I32V	probably benign	Het
Malsu1	T	A	6: 49,052,121 (GRCm39)	Y114N	probably damaging	Het
Ndufa5	A	T	6: 24,519,201 (GRCm39)	V41E	probably damaging	Het
Nme6	C	A	9: 109,670,999 (GRCm39)	P80T	probably damaging	Het
Odad2	T	A	18: 7,268,444 (GRCm39)	R358S	probably benign	Het
Or5ac20	A	G	16: 59,104,818 (GRCm39)	L14P	probably damaging	Het
Padi4	T	C	4: 140,473,532 (GRCm39)	D635G	probably damaging	Het
Pcf11	C	T	7: 92,311,049 (GRCm39)	S313N	possibly damaging	Het
Pdik1l	T	C	4: 134,006,015 (GRCm39)	H309R	probably benign	Het
Pdk2	A	T	11: 94,930,323 (GRCm39)		probably benign	Het
Pprc1	A	G	19: 46,060,758 (GRCm39)	S1606G	possibly damaging	Het
Ptch1	A	G	13: 63,692,910 (GRCm39)	I230T	probably damaging	Het
Scn10a	C	T	9: 119,447,914 (GRCm39)	R1381Q	probably benign	Het
Sestd1	T	C	2: 77,027,174 (GRCm39)	K479E	possibly damaging	Het
Sez6l2	C	T	7: 126,567,361 (GRCm39)	S892L	probably damaging	Het
Slc39a9	G	T	12: 80,713,350 (GRCm39)	A83S	probably benign	Het
Slc6a6	A	G	6: 91,726,808 (GRCm39)	Y483C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tas2r131	A	G	6: 132,934,732 (GRCm39)	S26P	probably damaging	Het
Timd2	A	G	11: 46,569,063 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,104,641 (GRCm39)	E27G	probably damaging	Het
Tns2	G	A	15: 102,022,978 (GRCm39)	G1256E	probably damaging	Het
Trpv6	T	A	6: 41,602,421 (GRCm39)	I322F	probably damaging	Het
Tshr	G	A	12: 91,504,321 (GRCm39)	V420M	probably damaging	Het
Ttn	C	A	2: 76,596,431 (GRCm39)	A20161S	probably damaging	Het
Vmn2r66	A	T	7: 84,654,455 (GRCm39)		probably benign	Het
Zfp438	T	A	18: 5,213,216 (GRCm39)	S581C	probably damaging	Het

Other mutations in 2610042L04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:2610042L04Rik	APN	14	4,350,856 (GRCm38)	missense	probably damaging	1.00
PIT4468001:2610042L04Rik	UTSW	14	4,348,940 (GRCm38)	missense	probably damaging	1.00
R2140:2610042L04Rik	UTSW	14	4,348,902 (GRCm38)	missense	probably damaging	0.98
R3055:2610042L04Rik	UTSW	14	4,348,878 (GRCm38)	missense	probably damaging	0.99
R6238:2610042L04Rik	UTSW	14	4,348,962 (GRCm38)	missense	probably damaging	0.98
R9328:2610042L04Rik	UTSW	14	4,350,013 (GRCm38)	nonsense	probably null
R9733:2610042L04Rik	UTSW	14	15,712,825 (GRCm39)	splice site	probably benign
Z1176:2610042L04Rik	UTSW	14	4,348,869 (GRCm38)	missense	probably damaging	0.99

Posted On

2015-04-16