Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02602:Fam228a'

300117

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 #

IGL02602

Quality Score

Status

Chromosome

Chromosomal Location

4763670-4788430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4782808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 95 (T95I)

Ref Sequence

ENSEMBL: ENSMUSP00000152506 (fasta)

Gene Model

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

AlphaFold

Q8CDW1

Predicted Effect

probably benign
Transcript: ENSMUST00000111154
AA Change: T95I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220075

Predicted Effect

probably benign
Transcript: ENSMUST00000220978
AA Change: T82I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000222363
AA Change: T95I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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
Acsf2	A	G	11: 94,461,291 (GRCm39)		probably benign	Het
Arhgap20	A	T	9: 51,737,143 (GRCm39)	I148F	probably damaging	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Cdk13	A	G	13: 17,901,745 (GRCm39)	F997L	probably damaging	Het
Cep162	G	A	9: 87,128,206 (GRCm39)	H170Y	probably benign	Het
Clasp1	T	C	1: 118,399,515 (GRCm39)	F220L	probably damaging	Het
Clock	C	A	5: 76,402,273 (GRCm39)	G129V	probably null	Het
Clock	C	T	5: 76,402,274 (GRCm39)	G129R	probably damaging	Het
Cybrd1	T	C	2: 70,948,492 (GRCm39)	L10P	probably damaging	Het
Cyp7a1	A	G	4: 6,272,871 (GRCm39)	I114T	possibly damaging	Het
Epha7	T	A	4: 28,871,877 (GRCm39)	V402D	possibly damaging	Het
Gm7589	C	T	9: 59,053,441 (GRCm39)		noncoding transcript	Het
Klf4	C	A	4: 55,530,595 (GRCm39)	R172L	probably damaging	Het
Macf1	A	G	4: 123,248,956 (GRCm39)	S7190P	probably damaging	Het
Mga	A	G	2: 119,762,365 (GRCm39)	T1119A	possibly damaging	Het
Nmur2	T	A	11: 55,917,889 (GRCm39)	T367S	probably benign	Het
Ogfr	A	G	2: 180,237,230 (GRCm39)	D605G	possibly damaging	Het
Or4f61	A	G	2: 111,922,906 (GRCm39)	F47L	probably benign	Het
Pcdhb1	A	T	18: 37,399,849 (GRCm39)	N600I	probably damaging	Het
Pkhd1l1	T	C	15: 44,421,327 (GRCm39)	S3032P	probably damaging	Het
Ppp2r5e	A	G	12: 75,540,213 (GRCm39)	L144P	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Ryr2	T	C	13: 11,569,397 (GRCm39)		probably benign	Het
Scarb2	A	G	5: 92,596,415 (GRCm39)	Y410H	probably benign	Het
Slc12a1	A	G	2: 124,996,162 (GRCm39)	Y105C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stt3b	A	T	9: 115,105,846 (GRCm39)	S210T	probably damaging	Het
Sulf2	T	C	2: 165,923,220 (GRCm39)	H635R	probably benign	Het
Tmem167	C	A	13: 90,252,499 (GRCm39)	R52S	probably damaging	Het
Tsga13	G	A	6: 30,879,212 (GRCm39)	T167I	possibly damaging	Het
Txk	T	C	5: 72,865,063 (GRCm39)	R271G	possibly damaging	Het
Vmn1r191	T	C	13: 22,363,635 (GRCm39)	K40E	probably damaging	Het
Vmn1r69	T	A	7: 10,313,901 (GRCm39)	N277Y	probably benign	Het

Other mutations in Fam228a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Fam228a	APN	12	4,782,773 (GRCm39)	missense	possibly damaging	0.94
IGL01472:Fam228a	APN	12	4,765,610 (GRCm39)	missense	possibly damaging	0.64
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

2015-04-16