Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02506:Fam227b'

296317

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126003911 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 386 (Y386F)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110446
AA Change: Y386F

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: Y386F

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: Y386F

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: Y386F

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: Y386F

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: Y386F

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,692,488	E189G	possibly damaging	Het
Acad11	T	C	9: 104,091,732		probably null	Het
Adcy7	G	T	8: 88,317,943	R488L	probably damaging	Het
Akt1	C	T	12: 112,659,280		probably benign	Het
Ano9	C	T	7: 141,102,254		probably benign	Het
Arhgap15	A	G	2: 44,063,808	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,452,399	V127D	probably benign	Het
Cacna1g	A	G	11: 94,429,129	M1407T	probably damaging	Het
Card9	A	C	2: 26,354,415		probably benign	Het
Cdh5	A	G	8: 104,137,822	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,527,954	T343S	probably benign	Het
Cic	T	A	7: 25,290,857	C1928S	probably benign	Het
Clk3	C	T	9: 57,754,644	W31*	probably null	Het
Cntn4	A	G	6: 106,618,388	T489A	probably benign	Het
Crispld1	G	A	1: 17,756,305	R431H	probably damaging	Het
Crmp1	T	A	5: 37,278,855		probably benign	Het
Cyld	A	G	8: 88,729,590	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,799,388	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,829,785	N141D	probably damaging	Het
Dip2b	T	A	15: 100,157,281	L341Q	probably damaging	Het
F3	C	T	3: 121,731,674	T53I	possibly damaging	Het
Fmn1	A	T	2: 113,525,295	T694S	unknown	Het
Gcnt2	T	A	13: 40,887,380	V5E	probably benign	Het
Herpud1	G	T	8: 94,394,642	E355*	probably null	Het
Igf1r	T	C	7: 68,193,396	S752P	probably benign	Het
Iqsec1	T	C	6: 90,672,075	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,432,149	S1598P	probably damaging	Het
Klk9	A	G	7: 43,795,639	E185G	probably benign	Het
Myo16	G	T	8: 10,390,217	R423L	probably damaging	Het
Myo7b	T	C	18: 31,967,154	E1609G	probably damaging	Het
Nom1	T	A	5: 29,439,816		probably benign	Het
Nomo1	A	G	7: 46,078,056	I1040V	possibly damaging	Het
Olfr887	G	A	9: 38,085,445	G203D	probably damaging	Het
Paqr9	T	C	9: 95,560,695	V246A	probably benign	Het
Pfkfb4	A	T	9: 109,030,336	D437V	probably benign	Het
Phldb1	G	T	9: 44,710,926	D797E	probably benign	Het
Pkd1l3	A	G	8: 109,647,500	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,471,766	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,489,991	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,467,928	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 185,252,024		probably benign	Het
Rad23b	T	C	4: 55,382,511	V238A	probably benign	Het
Sel1l2	T	C	2: 140,275,460	T164A	possibly damaging	Het
Serpinh1	T	A	7: 99,346,992	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,581,838	E770G	probably benign	Het
Spag4	T	C	2: 156,069,222	L390P	probably damaging	Het
Stip1	A	G	19: 7,035,489		probably benign	Het
Tacr1	A	G	6: 82,403,758	N50S	probably damaging	Het
Tg	T	C	15: 66,741,594	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,369,211		probably benign	Het
Usp40	A	T	1: 87,982,016	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,162	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,444,406	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,049,191	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,265,237	F552I	probably damaging	Het
Zfp507	T	C	7: 35,776,466	I811V	probably damaging	Het
Zfp663	A	T	2: 165,353,951	V116D	probably benign	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
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
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

2015-04-16