Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02933:Fam227b'

364201

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

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02933

Quality Score

Status

Chromosome

Chromosomal Location

125825403-125993924 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 125965908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

AlphaFold

Q9D518

Predicted Effect

probably null
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 null
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 null
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	G	T	7: 44,012,436 (GRCm39)	S24Y	possibly damaging	Het
Adam15	T	C	3: 89,250,790 (GRCm39)	T609A	possibly damaging	Het
Ank1	C	T	8: 23,612,881 (GRCm39)	T1485I	possibly damaging	Het
Bbof1	A	G	12: 84,473,740 (GRCm39)	N357D	probably damaging	Het
Btn1a1	A	G	13: 23,644,697 (GRCm39)	F267S	possibly damaging	Het
C2cd2	A	T	16: 97,693,401 (GRCm39)	F157I	probably benign	Het
Cd55	T	C	1: 130,380,261 (GRCm39)	E239G	probably damaging	Het
Cnpy1	T	A	5: 28,412,119 (GRCm39)	H138L	probably benign	Het
Cpne4	T	C	9: 104,896,966 (GRCm39)	V373A	possibly damaging	Het
Dlg5	A	T	14: 24,208,567 (GRCm39)	S880T	probably benign	Het
Etv1	C	T	12: 38,831,832 (GRCm39)	T27I	probably benign	Het
Flcn	T	C	11: 59,694,583 (GRCm39)	S130G	probably damaging	Het
Flvcr2	T	C	12: 85,849,902 (GRCm39)		probably benign	Het
Git1	C	A	11: 77,391,902 (GRCm39)	H241Q	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Idh1	C	T	1: 65,201,072 (GRCm39)	S293N	probably damaging	Het
Itpr2	A	G	6: 146,214,402 (GRCm39)	S1449P	probably benign	Het
Mmel1	T	A	4: 154,968,087 (GRCm39)	L141Q	probably damaging	Het
Morn4	A	G	19: 42,064,661 (GRCm39)	I109T	probably benign	Het
Mrgprh	T	C	17: 13,096,596 (GRCm39)	Y279H	probably damaging	Het
Or1ak2	T	A	2: 36,827,310 (GRCm39)	Y60N	probably damaging	Het
Osbpl8	T	C	10: 111,117,991 (GRCm39)	I578T	probably damaging	Het
Reg2	A	G	6: 78,384,917 (GRCm39)	Y153C	probably damaging	Het
Sall2	T	C	14: 52,550,484 (GRCm39)	S902G	probably benign	Het
Sesn3	C	T	9: 14,232,504 (GRCm39)	T259M	probably damaging	Het
Traf1	C	A	2: 34,839,107 (GRCm39)	D73Y	possibly damaging	Het
Trnt1	G	A	6: 106,750,387 (GRCm39)	G97D	probably benign	Het
Ttll11	T	C	2: 35,869,422 (GRCm39)	H72R	probably benign	Het
Txndc12	T	C	4: 108,715,193 (GRCm39)		probably null	Het
Zan	C	A	5: 137,426,676 (GRCm39)	S2490I	unknown	Het
Zfp955a	T	C	17: 33,462,683 (GRCm39)		probably null	Het
Zfyve26	A	C	12: 79,326,854 (GRCm39)	S756R	possibly damaging	Het
Zmynd8	T	C	2: 165,670,238 (GRCm39)	N412S	possibly damaging	Het

Other mutations in Fam227b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Fam227b	APN	2	125,986,245 (GRCm39)	critical splice acceptor site	probably null
IGL00970:Fam227b	APN	2	125,968,980 (GRCm39)	missense	probably benign	0.01
IGL02040:Fam227b	APN	2	125,963,004 (GRCm39)	splice site	probably benign
IGL02095:Fam227b	APN	2	125,942,924 (GRCm39)	missense	probably damaging	0.97
IGL02352:Fam227b	APN	2	125,988,174 (GRCm39)	unclassified	probably benign
IGL02359:Fam227b	APN	2	125,988,174 (GRCm39)	unclassified	probably benign
IGL02506:Fam227b	APN	2	125,845,831 (GRCm39)	missense	probably benign	0.22
IGL02717:Fam227b	APN	2	125,845,763 (GRCm39)	missense	probably null	0.97
IGL03064:Fam227b	APN	2	125,968,762 (GRCm39)	splice site	probably null
IGL03086:Fam227b	APN	2	125,960,951 (GRCm39)	missense	probably benign	0.01
IGL03198:Fam227b	APN	2	125,966,499 (GRCm39)	critical splice donor site	probably null
IGL03256:Fam227b	APN	2	125,830,923 (GRCm39)	missense	probably damaging	0.99
IGL03368:Fam227b	APN	2	125,960,983 (GRCm39)	missense	probably damaging	1.00
dana	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R0071:Fam227b	UTSW	2	125,965,994 (GRCm39)	missense	probably benign	0.04
R0071:Fam227b	UTSW	2	125,965,994 (GRCm39)	missense	probably benign	0.04
R0110:Fam227b	UTSW	2	125,942,841 (GRCm39)	missense	probably damaging	1.00
R0140:Fam227b	UTSW	2	125,966,523 (GRCm39)	missense	possibly damaging	0.53
R0377:Fam227b	UTSW	2	125,966,920 (GRCm39)	splice site	probably benign
R0499:Fam227b	UTSW	2	125,942,829 (GRCm39)	missense	probably benign	0.25
R1240:Fam227b	UTSW	2	125,966,505 (GRCm39)	missense	possibly damaging	0.56
R1356:Fam227b	UTSW	2	125,960,928 (GRCm39)	missense	probably damaging	1.00
R1404:Fam227b	UTSW	2	125,845,759 (GRCm39)	missense	probably damaging	0.99
R1404:Fam227b	UTSW	2	125,845,759 (GRCm39)	missense	probably damaging	0.99
R2055:Fam227b	UTSW	2	125,942,874 (GRCm39)	missense	probably benign	0.13
R2884:Fam227b	UTSW	2	125,942,846 (GRCm39)	missense	probably benign	0.01
R3124:Fam227b	UTSW	2	125,966,006 (GRCm39)	missense	probably benign	0.36
R3125:Fam227b	UTSW	2	125,966,006 (GRCm39)	missense	probably benign	0.36
R3937:Fam227b	UTSW	2	125,968,980 (GRCm39)	missense	probably benign	0.01
R4408:Fam227b	UTSW	2	125,958,045 (GRCm39)	missense	possibly damaging	0.47
R4454:Fam227b	UTSW	2	125,988,188 (GRCm39)	unclassified	probably benign
R4455:Fam227b	UTSW	2	125,988,188 (GRCm39)	unclassified	probably benign
R4457:Fam227b	UTSW	2	125,988,188 (GRCm39)	unclassified	probably benign
R4558:Fam227b	UTSW	2	125,968,963 (GRCm39)	missense	probably benign	0.00
R4661:Fam227b	UTSW	2	125,849,230 (GRCm39)	missense	probably damaging	0.99
R4809:Fam227b	UTSW	2	125,958,045 (GRCm39)	missense	possibly damaging	0.47
R4810:Fam227b	UTSW	2	125,829,859 (GRCm39)	missense	probably benign	0.01
R4989:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5011:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5013:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5014:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5133:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5184:Fam227b	UTSW	2	125,958,043 (GRCm39)	missense	probably damaging	1.00
R5431:Fam227b	UTSW	2	125,968,851 (GRCm39)	missense	probably benign	0.09
R5797:Fam227b	UTSW	2	125,849,254 (GRCm39)	missense	probably benign
R6056:Fam227b	UTSW	2	125,962,972 (GRCm39)	missense	probably damaging	1.00
R6218:Fam227b	UTSW	2	125,968,882 (GRCm39)	missense	probably damaging	1.00
R6471:Fam227b	UTSW	2	125,962,985 (GRCm39)	missense	probably damaging	1.00
R6660:Fam227b	UTSW	2	125,986,227 (GRCm39)	missense	probably damaging	1.00
R6734:Fam227b	UTSW	2	125,968,896 (GRCm39)	nonsense	probably null
R7136:Fam227b	UTSW	2	125,965,948 (GRCm39)	missense	probably damaging	0.99
R7410:Fam227b	UTSW	2	125,960,983 (GRCm39)	missense	probably damaging	1.00
R8417:Fam227b	UTSW	2	125,962,982 (GRCm39)	missense	probably damaging	1.00
R8679:Fam227b	UTSW	2	125,830,928 (GRCm39)	missense	probably benign	0.02
R8731:Fam227b	UTSW	2	125,968,898 (GRCm39)	missense	possibly damaging	0.95
R8986:Fam227b	UTSW	2	125,958,019 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18