Mutagenetix > Incidental Mutations

Incidental Mutation 'R0377:Fam227b'

30784

Institutional Source

Beutler Lab

Gene Symbol

Fam227b

Ensembl Gene

ENSMUSG00000027209

Gene Name

family with sequence similarity 227, member B

Synonyms

4930525F21Rik

MMRRC Submission

038583-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0377 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 126125000 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110446

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209

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

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209

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

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209

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: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,375,096	V107F	possibly damaging	Het
Acad11	T	A	9: 104,081,692		probably benign	Het
Ache	G	A	5: 137,290,928	E299K	possibly damaging	Het
Adam5	T	C	8: 24,747,541	T618A	probably benign	Het
Amigo2	T	A	15: 97,246,380	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,641,340		probably null	Het
Armc4	G	A	18: 7,127,415	R933C	probably benign	Het
Btaf1	A	G	19: 36,989,002	K1057E	probably benign	Het
Cep55	T	A	19: 38,071,889	L396*	probably null	Het
Cic	C	A	7: 25,285,799	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,292,529	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,604,567	C1319S	probably benign	Het
Dnah6	A	G	6: 73,121,992	S2027P	possibly damaging	Het
Dntt	G	A	19: 41,047,627	W369*	probably null	Het
Esp18	T	A	17: 39,409,944	W27R	probably benign	Het
Fbxo31	G	A	8: 121,559,102		probably benign	Het
Gm13547	G	A	2: 29,761,791		probably null	Het
Gnl2	T	A	4: 125,046,382		probably benign	Het
Gpx2	G	A	12: 76,795,156	Q74*	probably null	Het
Gucy2c	A	G	6: 136,750,917		probably null	Het
Hoxa5	A	T	6: 52,202,646	W250R	probably damaging	Het
Izumo4	G	A	10: 80,702,840	R42H	probably damaging	Het
Kcnj12	G	A	11: 61,069,396	M71I	probably benign	Het
Kmt2b	A	T	7: 30,574,193	L2333Q	probably damaging	Het
Mak	T	C	13: 41,049,348	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731	I218N	probably damaging	Het
Mark3	T	C	12: 111,629,029	L393P	probably damaging	Het
Msh4	A	G	3: 153,896,890	S234P	probably benign	Het
Mug1	A	G	6: 121,857,361	D367G	probably benign	Het
Mypn	A	G	10: 63,127,622		probably benign	Het
Ncapg	T	C	5: 45,693,817	V784A	probably benign	Het
Nutf2	T	A	8: 105,878,872	V113D	probably damaging	Het
Olfr1080	A	T	2: 86,553,583	D180E	probably damaging	Het
Opn3	T	C	1: 175,663,694	M258V	probably damaging	Het
Osbpl7	A	G	11: 97,055,934	D211G	probably damaging	Het
Pcnx	C	T	12: 81,974,579		probably benign	Het
Plekhd1	G	A	12: 80,706,436		probably benign	Het
Pnpla6	A	G	8: 3,541,501	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,662,317	D66E	probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,388,132	S885R	possibly damaging	Het
Rab26	A	T	17: 24,530,045		probably benign	Het
Rab5a	G	A	17: 53,500,462	M175I	probably benign	Het
Rassf9	T	A	10: 102,545,649	D297E	probably benign	Het
Rimbp2	C	T	5: 128,803,861	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,431,284	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546	L263F	probably benign	Het
Sec14l1	T	G	11: 117,149,140		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spaca1	T	C	4: 34,044,267		probably null	Het
Stk36	C	T	1: 74,612,730	P394L	probably benign	Het
Stk4	T	C	2: 164,096,800	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,517,376	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,490,751	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,299,912	T104P	probably benign	Het
Trmt2a	G	A	16: 18,249,703	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,831,778	E324*	probably null	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Wdr18	G	A	10: 79,967,502	R400H	probably benign	Het
Wdr78	A	G	4: 103,048,259	V775A	probably damaging	Het
Zfp119b	T	A	17: 55,938,671	H505L	probably damaging	Het
Zfp619	T	A	7: 39,536,797	C750*	probably null	Het
Zfr	T	C	15: 12,160,591	I750T	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTATCAGGGCTCCAATACTGAGTGTC -3'
(R):5'- GTTTGAGTTTTCAGCAGCAGCATCC -3'

Sequencing Primer
(F):5'- TCAGGACAGAAATGTTACTCACA -3'
(R):5'- GTGGCTTGTCAAAATCTCTAGTTC -3'

Posted On

2013-04-24