Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Fam227a'

437657

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

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

Stock #

R5593 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79493777-79543157 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 79524259 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

noncoding transcript
Transcript: ENSMUST00000046816

SMART Domains

Protein: ENSMUSP00000048277
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	128	242	6.3e-32	PFAM

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

silent
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

silent
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

silent
Transcript: ENSMUST00000229064

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably damaging	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
IGL02734:Fam227a	APN	15	79,502,042 (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
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

Predicted Primers

Posted On

2016-10-26