Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00670:Fam228b'

10320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam228b

Ensembl Gene

ENSMUSG00000050545

Gene Name

family with sequence similarity 228, member B

Synonyms

A830093I24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL00670

Quality Score

Status

Chromosome

Chromosomal Location

4789888-4819259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4814081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 59 (K59E)

Ref Sequence

ENSEMBL: ENSMUSP00000151270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053458] [ENSMUST00000218199] [ENSMUST00000218575] [ENSMUST00000219503] [ENSMUST00000219898]

AlphaFold

Q497Q6

Predicted Effect

probably damaging
Transcript: ENSMUST00000053458
AA Change: K59E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218199
AA Change: K59E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218575
AA Change: K59E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218905

Predicted Effect

probably benign
Transcript: ENSMUST00000219503

Predicted Effect

probably benign
Transcript: ENSMUST00000219898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,633,007 (GRCm39)	L245Q	probably damaging	Het
Abcd3	A	T	3: 121,569,333 (GRCm39)	V333D	probably damaging	Het
Aff2	T	A	X: 68,588,199 (GRCm39)	M122K	possibly damaging	Het
Car10	C	T	11: 93,195,483 (GRCm39)		probably benign	Het
Cyp2d26	T	A	15: 82,675,942 (GRCm39)	M257L	probably benign	Het
Cyp2j5	T	G	4: 96,522,512 (GRCm39)	D354A	probably benign	Het
Fndc3c1	T	C	X: 105,489,383 (GRCm39)	D346G	probably benign	Het
Med14	G	A	X: 12,620,428 (GRCm39)	A95V	probably damaging	Het
Med23	T	C	10: 24,764,482 (GRCm39)	L155P	probably damaging	Het
Mrps31	A	G	8: 22,919,206 (GRCm39)	D312G	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,059 (GRCm39)	N618K	probably benign	Het
Prb1a	A	T	6: 132,184,109 (GRCm39)		probably benign	Het
Slc5a4a	A	T	10: 75,999,567 (GRCm39)	I210F	probably damaging	Het
Tasor2	A	T	13: 3,635,241 (GRCm39)	I522N	probably benign	Het
Ttn	A	T	2: 76,657,335 (GRCm39)		probably benign	Het

Other mutations in Fam228b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Fam228b	APN	12	4,813,055 (GRCm39)	missense	probably damaging	1.00
IGL02431:Fam228b	APN	12	4,812,370 (GRCm39)	missense	probably damaging	1.00
R0049:Fam228b	UTSW	12	4,798,117 (GRCm39)	missense	probably damaging	1.00
R0049:Fam228b	UTSW	12	4,798,117 (GRCm39)	missense	probably damaging	1.00
R0345:Fam228b	UTSW	12	4,798,351 (GRCm39)	missense	possibly damaging	0.71
R0416:Fam228b	UTSW	12	4,812,382 (GRCm39)	missense	probably damaging	0.99
R1860:Fam228b	UTSW	12	4,798,314 (GRCm39)	missense	probably damaging	1.00
R5032:Fam228b	UTSW	12	4,813,042 (GRCm39)	missense	probably damaging	1.00
R6821:Fam228b	UTSW	12	4,813,083 (GRCm39)	missense	probably benign	0.08
R9382:Fam228b	UTSW	12	4,798,147 (GRCm39)	missense	probably damaging	1.00
X0028:Fam228b	UTSW	12	4,798,022 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06