Mutagenetix > Incidental Mutations

Incidental Mutation 'R0071:Fam227b'

17250

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

038362-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0071 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126124074 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 144 (N144Y)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110446] [ENSMUST00000110448] [ENSMUST00000178118]

Predicted Effect

probably benign
Transcript: ENSMUST00000110446
AA Change: N144Y

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: N144Y

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	136	293	7.6e-54	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110448
AA Change: N144Y

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: N144Y

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	136	293	3.8e-54	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156413

Predicted Effect

probably benign
Transcript: ENSMUST00000178118
AA Change: N144Y

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: N144Y

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
Pfam:FWWh	140	293	7.2e-50	PFAM
coiled coil region	427	478	N/A	INTRINSIC
low complexity region	500	523	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 88.2%
3x: 84.4%
10x: 70.8%
20x: 43.5%

Validation Efficiency

93% (94/101)

MGI Phenotype

Mice homozygous for a knock-out allele exhibit abnormal coat appearance, abnormal kidney morphology, spleen hypoplasia, decreased vesicles clustering in GABAergic synapses, decreased miniature inhibitory postsynaptic currents, and increased susceptibility to drug-induced seizures.,NO_PHENOTYPE

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	A	G	16: 14,088,954	D11G	probably damaging	Het
Acrbp	T	C	6: 125,050,952		probably benign	Het
AI481877	A	G	4: 59,059,643	Y1006H	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Aox3	T	A	1: 58,171,891	C931*	probably null	Het
Apob	T	A	12: 8,002,111	V1184E	probably damaging	Het
Bbx	C	T	16: 50,280,392	E47K	probably benign	Het
Bccip	A	G	7: 133,714,231	D72G	probably damaging	Het
Bckdha	A	T	7: 25,630,443		probably null	Het
Cald1	C	T	6: 34,758,134		probably benign	Het
Cdk11b	T	C	4: 155,649,423		probably benign	Het
Cebpe	G	T	14: 54,710,604	R261S	probably damaging	Het
Cep95	C	T	11: 106,790,728		probably benign	Het
Chil1	T	C	1: 134,185,279	Y150H	probably benign	Het
Chrnd	T	C	1: 87,192,837		probably benign	Het
Cog2	T	C	8: 124,548,668		probably benign	Het
Coro7	A	T	16: 4,670,527	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,596,821	T3525A	probably benign	Het
Fhod1	A	T	8: 105,337,225		probably null	Het
Folr1	A	G	7: 101,863,923		probably null	Het
Glis3	C	T	19: 28,263,855		probably benign	Het
Golgb1	G	A	16: 36,915,503	R1704Q	probably benign	Het
Helz2	T	C	2: 181,236,407	Y866C	probably damaging	Het
Kcnma1	C	T	14: 23,526,767	R236H	probably damaging	Het
Lct	C	T	1: 128,292,018	W1631*	probably null	Het
Limk1	G	T	5: 134,661,391	Q104K	probably benign	Het
Ly75	T	C	2: 60,321,819	K1130R	probably benign	Het
Mdm1	A	G	10: 118,146,796	E112G	probably damaging	Het
Myo7a	A	T	7: 98,056,830	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,264,045	Y118C	probably benign	Het
Olfr53	A	T	7: 140,652,257	I93F	probably benign	Het
Olfr716	A	G	7: 107,147,712	Y132C	probably damaging	Het
Osbpl11	T	C	16: 33,214,338		probably benign	Het
Pik3cb	A	T	9: 99,044,865	D886E	probably benign	Het
Pkhd1	T	A	1: 20,201,344	Y2995F	probably benign	Het
Raver2	C	T	4: 101,120,445		probably benign	Het
Sec22c	A	G	9: 121,692,913	F44L	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Sobp	A	G	10: 43,157,997	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,085,841	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,715,349	A104T	probably benign	Het
Spsb3	A	G	17: 24,887,904	D184G	probably damaging	Het
Sptan1	A	T	2: 30,003,342	K1148*	probably null	Het
Tdrd12	A	G	7: 35,529,246	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,223,578	T23A	probably benign	Het
Tra2b	A	T	16: 22,254,401		probably benign	Het
Tspan15	A	G	10: 62,203,070		probably benign	Het
Ttc41	A	G	10: 86,736,846	N694S	probably benign	Het
Ube3b	G	A	5: 114,419,497	G1014D	probably damaging	Het
Unc5d	A	G	8: 28,719,826	V422A	possibly damaging	Het
Vmn2r80	C	T	10: 79,171,732	T514I	possibly damaging	Het

Other mutations in Fam227b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Fam227b	APN	2	126144325	critical splice acceptor site	probably null
IGL00970:Fam227b	APN	2	126127060	missense	probably benign	0.01
IGL02040:Fam227b	APN	2	126121084	splice site	probably benign
IGL02095:Fam227b	APN	2	126101004	missense	probably damaging	0.97
IGL02352:Fam227b	APN	2	126146254	unclassified	probably benign
IGL02359:Fam227b	APN	2	126146254	unclassified	probably benign
IGL02506:Fam227b	APN	2	126003911	missense	probably benign	0.22
IGL02717:Fam227b	APN	2	126003843	missense	probably null	0.97
IGL02933:Fam227b	APN	2	126123988	splice site	probably null
IGL03064:Fam227b	APN	2	126126842	splice site	probably null
IGL03086:Fam227b	APN	2	126119031	missense	probably benign	0.01
IGL03198:Fam227b	APN	2	126124579	critical splice donor site	probably null
IGL03256:Fam227b	APN	2	125989003	missense	probably damaging	0.99
IGL03368:Fam227b	APN	2	126119063	missense	probably damaging	1.00
dana	UTSW	2	126116123	missense	probably damaging	1.00
R0071:Fam227b	UTSW	2	126124074	missense	probably benign	0.04
R0110:Fam227b	UTSW	2	126100921	missense	probably damaging	1.00
R0140:Fam227b	UTSW	2	126124603	missense	possibly damaging	0.53
R0377:Fam227b	UTSW	2	126125000	splice site	probably benign
R0499:Fam227b	UTSW	2	126100909	missense	probably benign	0.25
R1240:Fam227b	UTSW	2	126124585	missense	possibly damaging	0.56
R1356:Fam227b	UTSW	2	126119008	missense	probably damaging	1.00
R1404:Fam227b	UTSW	2	126003839	missense	probably damaging	0.99
R1404:Fam227b	UTSW	2	126003839	missense	probably damaging	0.99
R2055:Fam227b	UTSW	2	126100954	missense	probably benign	0.13
R2884:Fam227b	UTSW	2	126100926	missense	probably benign	0.01
R3124:Fam227b	UTSW	2	126124086	missense	probably benign	0.36
R3125:Fam227b	UTSW	2	126124086	missense	probably benign	0.36
R3937:Fam227b	UTSW	2	126127060	missense	probably benign	0.01
R4408:Fam227b	UTSW	2	126116125	missense	possibly damaging	0.47
R4454:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4455:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4457:Fam227b	UTSW	2	126146268	unclassified	probably benign
R4558:Fam227b	UTSW	2	126127043	missense	probably benign	0.00
R4661:Fam227b	UTSW	2	126007310	missense	probably damaging	0.99
R4809:Fam227b	UTSW	2	126116125	missense	possibly damaging	0.47
R4810:Fam227b	UTSW	2	125987939	missense	probably benign	0.01
R4989:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5011:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5013:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5014:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5133:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5184:Fam227b	UTSW	2	126116123	missense	probably damaging	1.00
R5431:Fam227b	UTSW	2	126126931	missense	probably benign	0.09
R5797:Fam227b	UTSW	2	126007334	missense	probably benign
R6056:Fam227b	UTSW	2	126121052	missense	probably damaging	1.00
R6218:Fam227b	UTSW	2	126126962	missense	probably damaging	1.00
R6471:Fam227b	UTSW	2	126121065	missense	probably damaging	1.00
R6660:Fam227b	UTSW	2	126144307	missense	probably damaging	1.00
R6734:Fam227b	UTSW	2	126126976	nonsense	probably null
R7136:Fam227b	UTSW	2	126124028	missense	probably damaging	0.99
R7410:Fam227b	UTSW	2	126119063	missense	probably damaging	1.00

Posted On

2013-01-20