Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03198:Fam227b'

412913

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 #

IGL03198

Quality Score

Status

Chromosome

Chromosomal Location

125825403-125993924 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 125966499 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
Adhfe1	A	T	1: 9,620,177 (GRCm39)		probably benign	Het
Atp6v0a2	T	C	5: 124,789,425 (GRCm39)		probably null	Het
Brca1	G	T	11: 101,403,537 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,368,108 (GRCm39)	C372S	probably benign	Het
Clip2	A	T	5: 134,526,936 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,186,615 (GRCm39)	N262D	probably damaging	Het
Foxj2	G	A	6: 122,809,966 (GRCm39)		probably null	Het
Gm4297	T	A	X: 24,418,810 (GRCm39)		probably benign	Het
Grik3	A	G	4: 125,553,555 (GRCm39)	D429G	probably benign	Het
Hcfc1	T	C	X: 72,994,935 (GRCm39)	I924V	possibly damaging	Het
Lrrk1	A	G	7: 65,956,642 (GRCm39)	V411A	probably damaging	Het
Mdh1	A	T	11: 21,514,168 (GRCm39)	V83E	probably damaging	Het
Pa2g4	A	G	10: 128,401,647 (GRCm39)	V17A	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Polg	A	G	7: 79,101,470 (GRCm39)	V1079A	probably damaging	Het
Polr2a	G	T	11: 69,638,107 (GRCm39)		probably null	Het
Ptk2	C	T	15: 73,108,065 (GRCm39)	S722N	probably damaging	Het
Rock2	A	G	12: 17,025,508 (GRCm39)	D1243G	probably benign	Het
Sirt4	T	C	5: 115,621,061 (GRCm39)	D37G	probably benign	Het
Slc35d1	T	C	4: 103,042,085 (GRCm39)	Y249C	probably damaging	Het
Snrnp27	A	T	6: 86,659,968 (GRCm39)		probably null	Het
Srek1	T	C	13: 103,881,443 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,454,516 (GRCm39)	I2951F	probably benign	Het
Stxbp3	A	G	3: 108,734,405 (GRCm39)	F40L	probably damaging	Het
Sympk	T	C	7: 18,778,921 (GRCm39)	V604A	possibly damaging	Het
Tbc1d2b	T	C	9: 90,104,510 (GRCm39)	Y544C	probably damaging	Het
Tnpo2	C	T	8: 85,778,347 (GRCm39)	T592I	possibly damaging	Het
Txndc16	T	C	14: 45,388,941 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 38,045,964 (GRCm39)	L120Q	probably damaging	Het
Wdfy4	A	T	14: 32,847,844 (GRCm39)	M836K	probably damaging	Het
Wdr48	A	G	9: 119,741,479 (GRCm39)	N141S	probably benign	Het
Zc3h7a	A	T	16: 10,980,528 (GRCm39)	Y28*	probably null	Het
Zfp423	T	C	8: 88,508,304 (GRCm39)	D659G	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
IGL02933:Fam227b	APN	2	125,965,908 (GRCm39)	splice site	probably null
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
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

2016-08-02