Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01744:2900092C05Rik'

152975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2900092C05Rik

Ensembl Gene

ENSMUSG00000030385

Gene Name

RIKEN cDNA 2900092C05 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01744

Quality Score

Status

Chromosome

Chromosomal Location

12246444-12290250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12284459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 102 (I102T)

Ref Sequence

ENSEMBL: ENSMUSP00000032541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032541]

AlphaFold

Q5I0V9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032541
AA Change: I102T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032541
Gene: ENSMUSG00000030385
AA Change: I102T

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	C	A	15: 59,887,424 (GRCm39)	A339S	possibly damaging	Het
Ackr2	A	G	9: 121,738,185 (GRCm39)	T187A	probably benign	Het
Adam28	A	G	14: 68,844,956 (GRCm39)	V777A	probably benign	Het
Add3	T	A	19: 53,227,861 (GRCm39)	D515E	probably damaging	Het
Aire	C	A	10: 77,872,557 (GRCm39)	E354*	probably null	Het
AW551984	T	C	9: 39,502,568 (GRCm39)	K670R	probably benign	Het
Bahcc1	T	C	11: 120,162,563 (GRCm39)	V287A	probably benign	Het
Brca1	T	C	11: 101,415,002 (GRCm39)	N1044S	possibly damaging	Het
Bub1b	T	A	2: 118,467,230 (GRCm39)	I851N	probably damaging	Het
Ceacam11	A	T	7: 17,707,323 (GRCm39)	I36F	possibly damaging	Het
Copa	A	G	1: 171,940,756 (GRCm39)	E714G	probably benign	Het
Cth	A	T	3: 157,630,572 (GRCm39)	N32K	probably benign	Het
Cyp2a5	T	A	7: 26,540,434 (GRCm39)	M349K	probably damaging	Het
D130052B06Rik	A	G	11: 33,573,966 (GRCm39)	S188G	unknown	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt1	T	C	5: 147,508,271 (GRCm39)	N1161S	probably benign	Het
Hip1	T	C	5: 135,573,917 (GRCm39)		probably benign	Het
Mapk11	A	G	15: 89,031,046 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,417 (GRCm39)		probably benign	Het
Myo1f	C	A	17: 33,802,654 (GRCm39)		probably benign	Het
Nipsnap1	G	A	11: 4,839,912 (GRCm39)	R211H	probably damaging	Het
Or52ab4	A	G	7: 102,987,435 (GRCm39)	H58R	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdh1	A	T	18: 38,336,302 (GRCm39)	I111N	probably damaging	Het
Piezo2	T	A	18: 63,175,859 (GRCm39)	I1841F	probably damaging	Het
Pirb	G	T	7: 3,720,175 (GRCm39)	Y399*	probably null	Het
Ppp1r36	A	T	12: 76,486,006 (GRCm39)	N388I	possibly damaging	Het
Prr16	A	G	18: 51,436,061 (GRCm39)	D180G	possibly damaging	Het
Prss39	A	G	1: 34,541,280 (GRCm39)		probably null	Het
Spopfm2	T	A	3: 94,083,544 (GRCm39)	K89M	probably damaging	Het
Trank1	T	A	9: 111,178,431 (GRCm39)	V373D	probably damaging	Het
Ubn1	A	G	16: 4,889,923 (GRCm39)	E186G	probably damaging	Het
Zmym2	T	C	14: 57,184,029 (GRCm39)	V997A	probably benign	Het

Other mutations in 2900092C05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:2900092C05Rik	APN	7	12,289,931 (GRCm39)	splice site	probably benign
IGL03047:2900092C05Rik	UTSW	7	12,246,568 (GRCm39)	missense	possibly damaging	0.92
R0001:2900092C05Rik	UTSW	7	12,288,534 (GRCm39)	splice site	probably benign
R0607:2900092C05Rik	UTSW	7	12,288,625 (GRCm39)	missense	probably benign	0.19
R0831:2900092C05Rik	UTSW	7	12,284,523 (GRCm39)	splice site	probably benign
R1468:2900092C05Rik	UTSW	7	12,246,507 (GRCm39)	start codon destroyed	probably null	0.83
R1468:2900092C05Rik	UTSW	7	12,246,507 (GRCm39)	start codon destroyed	probably null	0.83
R1846:2900092C05Rik	UTSW	7	12,246,809 (GRCm39)	missense	probably benign	0.38
R1852:2900092C05Rik	UTSW	7	12,246,629 (GRCm39)	splice site	probably null
R1912:2900092C05Rik	UTSW	7	12,288,582 (GRCm39)	missense	probably benign	0.01
R3442:2900092C05Rik	UTSW	7	12,246,583 (GRCm39)	nonsense	probably null
R3694:2900092C05Rik	UTSW	7	12,284,443 (GRCm39)	missense	possibly damaging	0.46
R3751:2900092C05Rik	UTSW	7	12,289,973 (GRCm39)	missense	probably benign	0.02
R5977:2900092C05Rik	UTSW	7	12,288,664 (GRCm39)	missense	probably benign	0.17
R6158:2900092C05Rik	UTSW	7	12,246,599 (GRCm39)	missense	probably benign	0.37
R6777:2900092C05Rik	UTSW	7	12,246,756 (GRCm39)	missense	probably benign	0.00
R6931:2900092C05Rik	UTSW	7	12,246,523 (GRCm39)	missense	unknown
R7284:2900092C05Rik	UTSW	7	12,246,605 (GRCm39)	nonsense	probably null
R7406:2900092C05Rik	UTSW	7	12,249,391 (GRCm39)	missense	possibly damaging	0.66
R8472:2900092C05Rik	UTSW	7	12,246,568 (GRCm39)	missense	possibly damaging	0.92
R8802:2900092C05Rik	UTSW	7	12,249,415 (GRCm39)	missense	possibly damaging	0.66
R8877:2900092C05Rik	UTSW	7	12,288,704 (GRCm39)	critical splice donor site	probably null
R9175:2900092C05Rik	UTSW	7	12,249,412 (GRCm39)	missense	probably benign	0.00

Posted On

2014-02-04