Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03060:Fam124a'

409415

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam124a

Ensembl Gene

ENSMUSG00000035184

Gene Name

family with sequence similarity 124, member A

Synonyms

EG629059

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL03060

Quality Score

Status

Chromosome

Chromosomal Location

62793186-62845935 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62843353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 287 (Y287C)

Ref Sequence

ENSEMBL: ENSMUSP00000047681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039064]

AlphaFold

D3Z5V4

Predicted Effect

probably benign
Transcript: ENSMUST00000039064
AA Change: Y287C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047681
Gene: ENSMUSG00000035184
AA Change: Y287C

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
Pfam:FAM124	45	276	2.6e-108	PFAM
low complexity region	410	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161899

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
Afap1l2	G	A	19: 56,902,682 (GRCm39)	Q720*	probably null	Het
Amph	A	G	13: 19,278,984 (GRCm39)	E153G	probably damaging	Het
Atad2	T	C	15: 57,985,842 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,450 (GRCm39)	D683G	probably damaging	Het
Cep152	C	T	2: 125,461,907 (GRCm39)		probably benign	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Dhrs2	C	A	14: 55,474,775 (GRCm39)	Q137K	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gm9637	G	A	14: 19,402,173 (GRCm38)		noncoding transcript	Het
Helz2	A	G	2: 180,871,015 (GRCm39)		probably null	Het
Iars1	G	A	13: 49,843,923 (GRCm39)		probably null	Het
Igll1	A	T	16: 16,680,291 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,196 (GRCm39)	Y361H	probably damaging	Het
Lrp1b	A	T	2: 40,527,765 (GRCm39)	H105Q	probably benign	Het
Mapk6	A	G	9: 75,305,084 (GRCm39)	M111T	probably damaging	Het
Mrtfa	G	A	15: 80,929,523 (GRCm39)	R27W	probably damaging	Het
Mt1	T	A	8: 94,906,522 (GRCm39)		probably benign	Het
Myh7b	A	T	2: 155,474,671 (GRCm39)	D1768V	probably damaging	Het
Myo6	A	T	9: 80,168,159 (GRCm39)	Q441L	probably benign	Het
Nt5c3b	A	T	11: 100,327,045 (GRCm39)	Y84N	probably damaging	Het
Ntmt2	T	C	1: 163,544,692 (GRCm39)	D97G	probably damaging	Het
Or1e29	A	G	11: 73,667,289 (GRCm39)	F288S	probably damaging	Het
Paxx	A	G	2: 25,350,196 (GRCm39)	L137P	probably damaging	Het
Ptprz1	T	C	6: 22,972,834 (GRCm39)	V248A	probably damaging	Het
Rif1	T	A	2: 52,002,149 (GRCm39)	C1868S	probably damaging	Het
Sec23a	A	T	12: 59,032,891 (GRCm39)	C403S	probably benign	Het
Skint4	G	A	4: 111,975,432 (GRCm39)	V131I	probably benign	Het
Sugp2	T	C	8: 70,695,837 (GRCm39)	V270A	possibly damaging	Het
Tmed9	A	G	13: 55,743,321 (GRCm39)	D151G	possibly damaging	Het
Tubgcp4	A	G	2: 121,007,071 (GRCm39)		probably benign	Het
Uaca	A	G	9: 60,777,148 (GRCm39)	R512G	probably damaging	Het
Unc80	A	G	1: 66,676,169 (GRCm39)	Y1999C	possibly damaging	Het
Vwf	T	A	6: 125,640,523 (GRCm39)	C2320S	probably damaging	Het

Other mutations in Fam124a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01556:Fam124a	APN	14	62,825,181 (GRCm39)	missense	probably damaging	0.98
IGL02010:Fam124a	APN	14	62,824,728 (GRCm39)	missense	probably damaging	1.00
IGL02939:Fam124a	APN	14	62,793,368 (GRCm39)	splice site	probably null
P0026:Fam124a	UTSW	14	62,843,571 (GRCm39)	missense	probably damaging	1.00
R0133:Fam124a	UTSW	14	62,843,782 (GRCm39)	missense	possibly damaging	0.71
R2044:Fam124a	UTSW	14	62,824,656 (GRCm39)	missense	probably damaging	1.00
R5397:Fam124a	UTSW	14	62,843,838 (GRCm39)	missense	probably benign
R5753:Fam124a	UTSW	14	62,843,988 (GRCm39)	missense	probably benign	0.01
R5988:Fam124a	UTSW	14	62,824,986 (GRCm39)	missense	possibly damaging	0.95
R7170:Fam124a	UTSW	14	62,824,629 (GRCm39)	missense	probably damaging	1.00
R7583:Fam124a	UTSW	14	62,844,008 (GRCm39)	nonsense	probably null
R7790:Fam124a	UTSW	14	62,843,526 (GRCm39)	missense	probably benign
R8039:Fam124a	UTSW	14	62,843,325 (GRCm39)	nonsense	probably null
R8873:Fam124a	UTSW	14	62,844,024 (GRCm39)	missense	probably benign	0.09
R9374:Fam124a	UTSW	14	62,843,988 (GRCm39)	missense	possibly damaging	0.50
R9483:Fam124a	UTSW	14	62,844,100 (GRCm39)	missense	probably damaging	0.99
R9518:Fam124a	UTSW	14	62,824,947 (GRCm39)	missense	probably damaging	1.00
R9551:Fam124a	UTSW	14	62,843,988 (GRCm39)	missense	possibly damaging	0.50
R9628:Fam124a	UTSW	14	62,825,010 (GRCm39)	missense	probably damaging	1.00
R9765:Fam124a	UTSW	14	62,824,883 (GRCm39)	missense	probably damaging	1.00
X0062:Fam124a	UTSW	14	62,843,439 (GRCm39)	missense	probably benign	0.01
Z1176:Fam124a	UTSW	14	62,843,857 (GRCm39)	missense	probably benign

Posted On

2016-08-02