Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00565:Ciao2a'

332623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ciao2a

Ensembl Gene

ENSMUSG00000032381

Gene Name

cytosolic iron-sulfur assembly component 2A

Synonyms

Fam96a, 5730536A07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00565

Quality Score

Status

Chromosome

Chromosomal Location

66033893-66046237 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66039898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 72 (I72L)

Ref Sequence

ENSEMBL: ENSMUSP00000034945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034945]

AlphaFold

Q9DCL2

Predicted Effect

probably benign
Transcript: ENSMUST00000034945
AA Change: I72L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034945
Gene: ENSMUSG00000032381
AA Change: I72L

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:DUF59	38	115	4.4e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	A	7: 41,274,996 (GRCm39)	T233K	possibly damaging	Het
Adamts9	A	T	6: 92,836,883 (GRCm39)	M623K	possibly damaging	Het
Arid1a	T	G	4: 133,412,793 (GRCm39)	D1467A	unknown	Het
Cdhr2	A	G	13: 54,866,112 (GRCm39)	D304G	probably damaging	Het
Cenpj	C	T	14: 56,790,487 (GRCm39)	V521I	probably benign	Het
Csf2rb	G	T	15: 78,232,714 (GRCm39)	E674*	probably null	Het
Dnai3	T	C	3: 145,750,674 (GRCm39)		probably benign	Het
Edaradd	C	T	13: 12,498,480 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,559,854 (GRCm39)	V1041A	possibly damaging	Het
Fam135b	A	G	15: 71,343,361 (GRCm39)	V418A	probably benign	Het
Gnas	T	A	2: 174,183,504 (GRCm39)		probably benign	Het
Grxcr1	A	T	5: 68,189,540 (GRCm39)	N104Y	possibly damaging	Het
Gtf2a1l	T	A	17: 89,001,723 (GRCm39)	L146Q	probably damaging	Het
Hectd1	T	A	12: 51,837,181 (GRCm39)	E791D	probably damaging	Het
Ifi203	A	G	1: 173,765,306 (GRCm39)		probably null	Het
Klk1b11	A	G	7: 43,649,243 (GRCm39)	N260S	probably damaging	Het
LTO1	G	T	7: 144,470,220 (GRCm39)	V50F	probably damaging	Het
Map4	A	T	9: 109,901,672 (GRCm39)		probably benign	Het
Marveld2	C	T	13: 100,737,401 (GRCm39)	V163M	possibly damaging	Het
Med14	T	C	X: 12,613,003 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,116 (GRCm39)	I144F	probably damaging	Het
Pde2a	T	A	7: 101,133,796 (GRCm39)	C92*	probably null	Het
Phf6	T	A	X: 52,020,516 (GRCm39)	Y103N	probably damaging	Het
Ptprt	A	G	2: 161,402,111 (GRCm39)	I1039T	probably damaging	Het
Rftn2	C	A	1: 55,243,444 (GRCm39)	V275F	probably damaging	Het
Skap1	C	A	11: 96,621,971 (GRCm39)	Q296K	probably damaging	Het
Skap1	T	A	11: 96,622,016 (GRCm39)	F311I	probably damaging	Het
Tas2r115	A	G	6: 132,714,741 (GRCm39)	I70T	probably benign	Het
Vav2	T	C	2: 27,167,250 (GRCm39)	D613G	probably benign	Het
Zranb3	T	C	1: 127,943,877 (GRCm39)	E290G	probably benign	Het

Other mutations in Ciao2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1905:Ciao2a	UTSW	9	66,039,929 (GRCm39)	missense	probably benign
R5006:Ciao2a	UTSW	9	66,043,634 (GRCm39)	splice site	probably null
R6471:Ciao2a	UTSW	9	66,034,139 (GRCm39)	missense	possibly damaging	0.91
R7947:Ciao2a	UTSW	9	66,045,684 (GRCm39)	missense	probably benign	0.01
R8773:Ciao2a	UTSW	9	66,045,667 (GRCm39)	missense	probably damaging	1.00
R8858:Ciao2a	UTSW	9	66,039,824 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-08-05