Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03086:Fam227b'

418092

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: 0.073) question?

Stock #

IGL03086

Quality Score

Status

Chromosome

Chromosomal Location

125983483-126152004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126119031 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 226 (I226K)

Ref Sequence

ENSEMBL: ENSMUSP00000136349 (fasta)

Gene Model

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

AlphaFold

Q9D518

Predicted Effect

probably benign
Transcript: ENSMUST00000110446
AA Change: I226K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106076
Gene: ENSMUSG00000027209
AA Change: I226K

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: I226K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106078
Gene: ENSMUSG00000027209
AA Change: I226K

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: I226K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000136349
Gene: ENSMUSG00000027209
AA Change: I226K

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	G	1: 72,643,278 (GRCm38)	I1158T	possibly damaging	Het
Ankrd11	A	G	8: 122,894,510 (GRCm38)	S868P	probably damaging	Het
Atad3a	C	T	4: 155,748,670 (GRCm38)		probably null	Het
Cadm4	A	T	7: 24,500,815 (GRCm38)	N250Y	probably damaging	Het
Cd300c2	T	C	11: 115,000,823 (GRCm38)	E75G	possibly damaging	Het
Cdc23	A	C	18: 34,637,186 (GRCm38)		probably benign	Het
Cep97	A	G	16: 55,915,296 (GRCm38)	S380P	probably benign	Het
Ckap5	T	A	2: 91,570,276 (GRCm38)		probably benign	Het
Col6a4	A	T	9: 106,082,862 (GRCm38)		probably benign	Het
Dclk1	G	A	3: 55,247,367 (GRCm38)	V73M	probably damaging	Het
Dnah8	T	C	17: 30,742,780 (GRCm38)	L2297P	probably damaging	Het
Eif2a	A	G	3: 58,541,117 (GRCm38)	I124V	probably benign	Het
Fcgr1	G	T	3: 96,284,498 (GRCm38)	Y331*	probably null	Het
Helq	T	C	5: 100,796,927 (GRCm38)	T106A	possibly damaging	Het
Ly9	A	T	1: 171,605,170 (GRCm38)	Y92N	probably benign	Het
Myom1	G	A	17: 71,108,671 (GRCm38)	C1256Y	probably damaging	Het
Ndc80	G	A	17: 71,520,925 (GRCm38)	T104I	probably benign	Het
Olfr1389	A	G	11: 49,430,805 (GRCm38)	T110A	probably benign	Het
Olfr513	A	T	7: 108,755,796 (GRCm38)		probably benign	Het
Olfr54	T	A	11: 51,027,730 (GRCm38)	C243S	probably damaging	Het
Olfr570	T	C	7: 102,900,406 (GRCm38)	F13S	probably damaging	Het
Phtf2	T	C	5: 20,764,275 (GRCm38)	N679S	probably damaging	Het
Polq	G	A	16: 37,091,049 (GRCm38)	R2382K	probably benign	Het
Recql4	C	T	15: 76,706,268 (GRCm38)	R672Q	probably benign	Het
Selenbp2	A	G	3: 94,699,638 (GRCm38)	N197S	probably damaging	Het
Sirpb1a	C	A	3: 15,426,328 (GRCm38)		probably null	Het
Slc12a2	T	A	18: 57,921,784 (GRCm38)	D832E	probably benign	Het
Slc13a1	G	A	6: 24,118,003 (GRCm38)	A245V	probably damaging	Het
Unc80	A	G	1: 66,509,474 (GRCm38)	D635G	probably damaging	Het
Utp18	T	C	11: 93,876,056 (GRCm38)	Q275R	probably damaging	Het
Wdr35	A	G	12: 9,008,692 (GRCm38)		probably null	Het
Zfyve26	A	G	12: 79,295,564 (GRCm38)	V36A	probably damaging	Het

Other mutations in Fam227b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Fam227b	APN	2	126,144,325 (GRCm38)	critical splice acceptor site	probably null
IGL00970:Fam227b	APN	2	126,127,060 (GRCm38)	missense	probably benign	0.01
IGL02040:Fam227b	APN	2	126,121,084 (GRCm38)	splice site	probably benign
IGL02095:Fam227b	APN	2	126,101,004 (GRCm38)	missense	probably damaging	0.97
IGL02352:Fam227b	APN	2	126,146,254 (GRCm38)	unclassified	probably benign
IGL02359:Fam227b	APN	2	126,146,254 (GRCm38)	unclassified	probably benign
IGL02506:Fam227b	APN	2	126,003,911 (GRCm38)	missense	probably benign	0.22
IGL02717:Fam227b	APN	2	126,003,843 (GRCm38)	missense	probably null	0.97
IGL02933:Fam227b	APN	2	126,123,988 (GRCm38)	splice site	probably null
IGL03064:Fam227b	APN	2	126,126,842 (GRCm38)	splice site	probably null
IGL03198:Fam227b	APN	2	126,124,579 (GRCm38)	critical splice donor site	probably null
IGL03256:Fam227b	APN	2	125,989,003 (GRCm38)	missense	probably damaging	0.99
IGL03368:Fam227b	APN	2	126,119,063 (GRCm38)	missense	probably damaging	1.00
dana	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R0071:Fam227b	UTSW	2	126,124,074 (GRCm38)	missense	probably benign	0.04
R0071:Fam227b	UTSW	2	126,124,074 (GRCm38)	missense	probably benign	0.04
R0110:Fam227b	UTSW	2	126,100,921 (GRCm38)	missense	probably damaging	1.00
R0140:Fam227b	UTSW	2	126,124,603 (GRCm38)	missense	possibly damaging	0.53
R0377:Fam227b	UTSW	2	126,125,000 (GRCm38)	splice site	probably benign
R0499:Fam227b	UTSW	2	126,100,909 (GRCm38)	missense	probably benign	0.25
R1240:Fam227b	UTSW	2	126,124,585 (GRCm38)	missense	possibly damaging	0.56
R1356:Fam227b	UTSW	2	126,119,008 (GRCm38)	missense	probably damaging	1.00
R1404:Fam227b	UTSW	2	126,003,839 (GRCm38)	missense	probably damaging	0.99
R1404:Fam227b	UTSW	2	126,003,839 (GRCm38)	missense	probably damaging	0.99
R2055:Fam227b	UTSW	2	126,100,954 (GRCm38)	missense	probably benign	0.13
R2884:Fam227b	UTSW	2	126,100,926 (GRCm38)	missense	probably benign	0.01
R3124:Fam227b	UTSW	2	126,124,086 (GRCm38)	missense	probably benign	0.36
R3125:Fam227b	UTSW	2	126,124,086 (GRCm38)	missense	probably benign	0.36
R3937:Fam227b	UTSW	2	126,127,060 (GRCm38)	missense	probably benign	0.01
R4408:Fam227b	UTSW	2	126,116,125 (GRCm38)	missense	possibly damaging	0.47
R4454:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4455:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4457:Fam227b	UTSW	2	126,146,268 (GRCm38)	unclassified	probably benign
R4558:Fam227b	UTSW	2	126,127,043 (GRCm38)	missense	probably benign	0.00
R4661:Fam227b	UTSW	2	126,007,310 (GRCm38)	missense	probably damaging	0.99
R4809:Fam227b	UTSW	2	126,116,125 (GRCm38)	missense	possibly damaging	0.47
R4810:Fam227b	UTSW	2	125,987,939 (GRCm38)	missense	probably benign	0.01
R4989:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5011:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5013:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5014:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5133:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5184:Fam227b	UTSW	2	126,116,123 (GRCm38)	missense	probably damaging	1.00
R5431:Fam227b	UTSW	2	126,126,931 (GRCm38)	missense	probably benign	0.09
R5797:Fam227b	UTSW	2	126,007,334 (GRCm38)	missense	probably benign
R6056:Fam227b	UTSW	2	126,121,052 (GRCm38)	missense	probably damaging	1.00
R6218:Fam227b	UTSW	2	126,126,962 (GRCm38)	missense	probably damaging	1.00
R6471:Fam227b	UTSW	2	126,121,065 (GRCm38)	missense	probably damaging	1.00
R6660:Fam227b	UTSW	2	126,144,307 (GRCm38)	missense	probably damaging	1.00
R6734:Fam227b	UTSW	2	126,126,976 (GRCm38)	nonsense	probably null
R7136:Fam227b	UTSW	2	126,124,028 (GRCm38)	missense	probably damaging	0.99
R7410:Fam227b	UTSW	2	126,119,063 (GRCm38)	missense	probably damaging	1.00
R8417:Fam227b	UTSW	2	126,121,062 (GRCm38)	missense	probably damaging	1.00
R8679:Fam227b	UTSW	2	125,989,008 (GRCm38)	missense	probably benign	0.02
R8731:Fam227b	UTSW	2	126,126,978 (GRCm38)	missense	possibly damaging	0.95
R8986:Fam227b	UTSW	2	126,116,099 (GRCm38)	missense	probably damaging	1.00

Posted On

2016-08-02