Mutagenetix > Incidental Mutations

Incidental Mutation 'R2884:Fam227b'

260950

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

040472-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126100926 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 317 (I317N)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110446
AA Change: I317N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: I317N

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: I317N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: I317N

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: I317N

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: I317N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,145,511	E59D	possibly damaging	Het
Arhgap27	T	C	11: 103,360,843		probably null	Het
BC061237	A	G	14: 44,501,170	R9G	possibly damaging	Het
BC067074	G	T	13: 113,369,191	A2285S	probably benign	Het
BC067074	A	T	13: 113,320,682	Q1087H	probably damaging	Het
Brsk1	A	G	7: 4,691,123		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dnajb5	A	T	4: 42,957,355	D284V	probably damaging	Het
Dnmt3a	A	G	12: 3,896,132	D329G	probably damaging	Het
Ecd	C	T	14: 20,320,773	G626D	probably damaging	Het
Exoc3l4	A	G	12: 111,428,522	D551G	possibly damaging	Het
Fam3c	G	A	6: 22,329,582	R49C	probably damaging	Het
Fcrl5	A	G	3: 87,457,391	Y566C	probably damaging	Het
Fras1	A	G	5: 96,700,268	N1779S	probably benign	Het
Gm19965	T	A	1: 116,821,583	N331K	probably benign	Het
Grm7	G	T	6: 110,646,348	V161F	probably damaging	Het
H2-DMa	A	G	17: 34,137,147	N41S	probably damaging	Het
Habp4	A	T	13: 64,182,266	R328S	probably benign	Het
Hexb	C	T	13: 97,183,700	G272D	probably damaging	Het
Hist1h2ae	A	G	13: 23,570,873	I79T	probably damaging	Het
Lilrb4a	A	T	10: 51,491,613	N84Y	probably benign	Het
Mtnr1a	A	G	8: 45,087,268	T89A	probably benign	Het
Myh13	T	A	11: 67,337,643	N336K	probably benign	Het
Naca	T	C	10: 128,041,678		probably benign	Het
Naif1	C	T	2: 32,454,875	P197L	probably benign	Het
Nprl3	A	G	11: 32,248,163	L179P	probably damaging	Het
Nup93	A	G	8: 94,303,638	Y375C	probably damaging	Het
Olfr547	A	G	7: 102,535,232	I162V	probably benign	Het
Pcdha12	G	A	18: 37,020,704	D159N	probably damaging	Het
Plekhs1	G	A	19: 56,470,826	G39R	probably benign	Het
Ppp4r3a	T	C	12: 101,068,677	E53G	probably damaging	Het
Prss48	A	T	3: 85,997,255	M212K	probably benign	Het
Pth	A	T	7: 113,386,028	L46Q	probably damaging	Het
Rin2	A	T	2: 145,860,991	T536S	probably benign	Het
Setx	T	G	2: 29,148,625	C1707W	probably damaging	Het
Stau2	A	T	1: 16,231,066	F519Y	possibly damaging	Het
Syne2	T	G	12: 75,963,759	V2481G	probably benign	Het
Tpte	C	T	8: 22,335,423	Q331*	probably null	Het
Ttn	G	T	2: 76,900,252		probably benign	Het
Utrn	A	T	10: 12,739,361		probably null	Het
Vmn2r82	A	G	10: 79,396,248	I694V	probably benign	Het
Vmn2r88	G	A	14: 51,413,934	C235Y	probably damaging	Het
Xrn2	T	A	2: 147,047,656	V653E	probably damaging	Het
Znrf3	A	T	11: 5,289,693	D58E	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCGGAGCCCTAAAGATTGAC -3'
(R):5'- TGCTACAATAGGAGCAGACAACTC -3'

Sequencing Primer
(F):5'- TCGGAGCCCTAAAGATTGACACAAG -3'
(R):5'- ATAGGAGCAGACAACTCTACTTAG -3'

Posted On

2015-01-23