Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02734:Fam227a'

305594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02734

Quality Score

Status

Chromosome

Chromosomal Location

79493777-79543157 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 79502042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]

AlphaFold

Q9D3V8

Predicted Effect

probably benign
Transcript: ENSMUST00000109646

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
low complexity region	156	175	N/A	INTRINSIC
low complexity region	204	211	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109648

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	134	295	1.4e-51	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187519

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	132	295	1e-47	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191401

Predicted Effect

probably benign
Transcript: ENSMUST00000229064

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231122

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,506,349 (GRCm39)	D114V	probably damaging	Het
Adam26a	A	G	8: 44,022,812 (GRCm39)	V226A	probably benign	Het
Anapc4	T	A	5: 53,018,633 (GRCm39)	V525E	probably benign	Het
Apip	C	T	2: 102,919,889 (GRCm39)		probably benign	Het
Bak1	A	G	17: 27,239,927 (GRCm39)	V203A	possibly damaging	Het
Bche	T	A	3: 73,609,409 (GRCm39)	T6S	probably benign	Het
Ceacam5	T	A	7: 17,484,737 (GRCm39)	V493D	probably damaging	Het
Cstf3	T	A	2: 104,439,539 (GRCm39)		probably benign	Het
Fbln1	G	T	15: 85,111,182 (GRCm39)	C112F	probably damaging	Het
Gm12695	G	A	4: 96,612,267 (GRCm39)	R499*	probably null	Het
Igdcc4	T	G	9: 65,038,738 (GRCm39)	S887A	possibly damaging	Het
Itgb4	G	T	11: 115,896,792 (GRCm39)	R1470L	probably benign	Het
Kif1a	T	C	1: 92,990,280 (GRCm39)	E480G	probably damaging	Het
Mgam	T	A	6: 40,639,628 (GRCm39)	F497L	probably damaging	Het
Or4a74	T	C	2: 89,440,303 (GRCm39)	I48V	probably benign	Het
Or5ar1	T	G	2: 85,671,883 (GRCm39)	D84A	possibly damaging	Het
Or5t5	T	C	2: 86,616,712 (GRCm39)	Y213H	probably benign	Het
Prl7a2	A	T	13: 27,843,190 (GRCm39)	D204E	probably benign	Het
Shd	A	G	17: 56,278,632 (GRCm39)	Y65C	probably damaging	Het
Slc25a39	A	G	11: 102,295,349 (GRCm39)	V207A	probably benign	Het
Sptlc2	T	C	12: 87,402,444 (GRCm39)	T161A	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tacc2	G	T	7: 130,227,829 (GRCm39)	V1505L	probably damaging	Het
Taf6	T	C	5: 138,182,118 (GRCm39)	K76E	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Zc3h4	T	C	7: 16,157,849 (GRCm39)	I353T	unknown	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79,518,274 (GRCm39)	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79,533,856 (GRCm39)	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79,496,747 (GRCm39)	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79,528,139 (GRCm39)	intron	probably benign
IGL02362:Fam227a	APN	15	79,528,139 (GRCm39)	intron	probably benign
IGL02569:Fam227a	APN	15	79,518,323 (GRCm39)	missense	probably benign
IGL02713:Fam227a	APN	15	79,520,997 (GRCm39)	splice site	probably benign
IGL02816:Fam227a	APN	15	79,510,497 (GRCm39)	missense	possibly damaging	0.66
IGL03354:Fam227a	APN	15	79,520,951 (GRCm39)	missense	possibly damaging	0.91
R0105:Fam227a	UTSW	15	79,505,033 (GRCm39)	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79,524,870 (GRCm39)	nonsense	probably null
R0437:Fam227a	UTSW	15	79,528,189 (GRCm39)	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79,510,469 (GRCm39)	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79,505,006 (GRCm39)	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79,496,738 (GRCm39)	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79,518,309 (GRCm39)	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79,510,446 (GRCm39)	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79,520,963 (GRCm39)	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79,504,878 (GRCm39)	splice site	probably null
R1669:Fam227a	UTSW	15	79,504,878 (GRCm39)	splice site	probably null
R1967:Fam227a	UTSW	15	79,521,335 (GRCm39)	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79,510,477 (GRCm39)	missense	possibly damaging	0.83
R2197:Fam227a	UTSW	15	79,507,668 (GRCm39)	missense	probably damaging	0.97
R2230:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79,499,582 (GRCm39)	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79,520,935 (GRCm39)	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79,532,934 (GRCm39)	splice site	probably null
R3943:Fam227a	UTSW	15	79,505,060 (GRCm39)	splice site	probably benign
R4811:Fam227a	UTSW	15	79,499,628 (GRCm39)	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79,533,912 (GRCm39)	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79,521,255 (GRCm39)	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79,521,262 (GRCm39)	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79,524,204 (GRCm39)	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79,520,936 (GRCm39)	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79,499,637 (GRCm39)	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79,524,259 (GRCm39)	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79,524,895 (GRCm39)	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79,527,551 (GRCm39)	missense	possibly damaging	0.53
R6532:Fam227a	UTSW	15	79,520,921 (GRCm39)	missense	probably benign	0.00
R7239:Fam227a	UTSW	15	79,518,263 (GRCm39)	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79,501,967 (GRCm39)	missense	probably benign
R7719:Fam227a	UTSW	15	79,504,913 (GRCm39)	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79,518,299 (GRCm39)	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79,533,959 (GRCm39)	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79,524,861 (GRCm39)	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79,514,271 (GRCm39)	missense	possibly damaging	0.53
R9014:Fam227a	UTSW	15	79,504,958 (GRCm39)	missense	possibly damaging	0.96
R9034:Fam227a	UTSW	15	79,532,952 (GRCm39)	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79,501,978 (GRCm39)	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79,518,284 (GRCm39)	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79,526,444 (GRCm39)	missense	probably benign	0.41

Posted On

2015-04-16