Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00906:Fam228a'

28702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam228a

Ensembl Gene

ENSMUSG00000079177

Gene Name

family with sequence similarity 228, member A

Synonyms

4930417G10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL00906

Quality Score

Status

Chromosome

Chromosomal Location

4763670-4788430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4782773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 107 (Y107N)

Ref Sequence

ENSEMBL: ENSMUSP00000152506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111154] [ENSMUST00000220978] [ENSMUST00000222363]

AlphaFold

Q8CDW1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111154
AA Change: Y107N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220075

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220978
AA Change: Y94N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222363
AA Change: Y107N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,580,338 (GRCm39)	E221G	probably benign	Het
Alb	A	G	5: 90,619,932 (GRCm39)	N453S	probably benign	Het
Bckdha	C	T	7: 25,332,767 (GRCm39)	V183M	probably benign	Het
Brpf3	A	G	17: 29,055,674 (GRCm39)		probably benign	Het
Ccdc163	T	C	4: 116,567,487 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,268,225 (GRCm39)	C87*	probably null	Het
Cfhr4	A	T	1: 139,659,312 (GRCm39)	V739E	probably damaging	Het
Clca4a	A	G	3: 144,660,700 (GRCm39)	V708A	probably damaging	Het
Cyfip2	A	G	11: 46,091,512 (GRCm39)	V1136A	possibly damaging	Het
Dnah11	A	C	12: 117,874,937 (GRCm39)	L3976R	probably damaging	Het
Erich1	A	G	8: 14,083,770 (GRCm39)		probably benign	Het
Iars2	A	T	1: 185,028,600 (GRCm39)		probably benign	Het
Ifi204	A	G	1: 173,587,197 (GRCm39)		probably benign	Het
Ifih1	A	T	2: 62,476,168 (GRCm39)	I36N	probably benign	Het
Jak1	C	T	4: 101,011,826 (GRCm39)	G1092D	probably damaging	Het
Kir3dl2	G	A	X: 135,357,097 (GRCm39)	P122S	probably damaging	Het
Nacc2	T	C	2: 25,951,678 (GRCm39)	T386A	probably damaging	Het
Nrf1	C	T	6: 30,098,477 (GRCm39)	T135M	probably damaging	Het
Or4k15	A	G	14: 50,364,214 (GRCm39)	Y60C	probably damaging	Het
Or51i2	G	A	7: 103,689,051 (GRCm39)	G16D	probably damaging	Het
Pcca	A	C	14: 122,927,545 (GRCm39)	D436A	probably benign	Het
Pcdhb11	A	T	18: 37,555,174 (GRCm39)	Q168L	possibly damaging	Het
Pdgfra	A	G	5: 75,340,834 (GRCm39)	I598V	probably benign	Het
Pla2g6	C	T	15: 79,171,947 (GRCm39)	V637I	probably damaging	Het
Plac1	A	C	X: 52,159,593 (GRCm39)	V39G	probably damaging	Het
Pparg	A	G	6: 115,416,822 (GRCm39)	E5G	probably damaging	Het
Ppp1r9a	A	G	6: 5,157,023 (GRCm39)	D967G	possibly damaging	Het
Rel	T	C	11: 23,694,266 (GRCm39)	T322A	probably benign	Het
Sgk3	A	G	1: 9,947,470 (GRCm39)	T137A	probably benign	Het
Sgpp2	A	G	1: 78,367,184 (GRCm39)	R106G	probably benign	Het
Slc27a5	T	A	7: 12,724,984 (GRCm39)	M459L	probably benign	Het
Snx21	T	C	2: 164,628,140 (GRCm39)	L52P	probably damaging	Het
Srarp	G	A	4: 141,160,584 (GRCm39)	T83M	probably benign	Het
Sstr2	A	G	11: 113,515,821 (GRCm39)	R247G	probably benign	Het
Tnpo3	G	A	6: 29,589,047 (GRCm39)	S101L	probably damaging	Het
Zan	A	G	5: 137,387,622 (GRCm39)	I4863T	unknown	Het

Other mutations in Fam228a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Fam228a	APN	12	4,765,610 (GRCm39)	missense	possibly damaging	0.64
IGL02602:Fam228a	APN	12	4,782,808 (GRCm39)	missense	probably benign	0.00
IGL02797:Fam228a	APN	12	4,781,484 (GRCm39)	missense	probably damaging	1.00
IGL03247:Fam228a	APN	12	4,787,734 (GRCm39)	missense	probably damaging	1.00
R0332:Fam228a	UTSW	12	4,785,018 (GRCm39)	missense	probably damaging	1.00
R0437:Fam228a	UTSW	12	4,782,759 (GRCm39)	missense	probably damaging	1.00
R0454:Fam228a	UTSW	12	4,781,457 (GRCm39)	missense	probably damaging	1.00
R0838:Fam228a	UTSW	12	4,785,002 (GRCm39)	missense	possibly damaging	0.92
R1791:Fam228a	UTSW	12	4,782,748 (GRCm39)	missense	probably damaging	1.00
R1836:Fam228a	UTSW	12	4,765,620 (GRCm39)	missense	probably damaging	1.00
R2256:Fam228a	UTSW	12	4,787,775 (GRCm39)	start gained	probably benign
R2257:Fam228a	UTSW	12	4,787,775 (GRCm39)	start gained	probably benign
R2397:Fam228a	UTSW	12	4,768,718 (GRCm39)	missense	probably benign	0.22
R3731:Fam228a	UTSW	12	4,768,671 (GRCm39)	missense	probably benign	0.44
R3921:Fam228a	UTSW	12	4,781,506 (GRCm39)	missense	probably benign	0.02
R5937:Fam228a	UTSW	12	4,787,725 (GRCm39)	missense	probably damaging	1.00
R7278:Fam228a	UTSW	12	4,782,790 (GRCm39)	missense	probably benign	0.01
R7610:Fam228a	UTSW	12	4,781,423 (GRCm39)	critical splice donor site	probably null
R9134:Fam228a	UTSW	12	4,765,686 (GRCm39)	missense	probably benign	0.27

Posted On

2013-04-17