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: 0.072) question?

Stock #

IGL03086

Quality Score

Status

Chromosome

Chromosomal Location

125825403-125993924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125960951 bp (GRCm39)

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: 72,682,437 (GRCm39)	I1158T	possibly damaging	Het
Ankrd11	A	G	8: 123,621,249 (GRCm39)	S868P	probably damaging	Het
Atad3a	C	T	4: 155,833,127 (GRCm39)		probably null	Het
Cadm4	A	T	7: 24,200,240 (GRCm39)	N250Y	probably damaging	Het
Cd300c2	T	C	11: 114,891,649 (GRCm39)	E75G	possibly damaging	Het
Cdc23	A	C	18: 34,770,239 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Ckap5	T	A	2: 91,400,621 (GRCm39)		probably benign	Het
Col6a4	A	T	9: 105,960,061 (GRCm39)		probably benign	Het
Dclk1	G	A	3: 55,154,788 (GRCm39)	V73M	probably damaging	Het
Dnah8	T	C	17: 30,961,754 (GRCm39)	L2297P	probably damaging	Het
Eif2a	A	G	3: 58,448,538 (GRCm39)	I124V	probably benign	Het
Fcgr1	G	T	3: 96,191,814 (GRCm39)	Y331*	probably null	Het
Helq	T	C	5: 100,944,793 (GRCm39)	T106A	possibly damaging	Het
Ly9	A	T	1: 171,432,738 (GRCm39)	Y92N	probably benign	Het
Myom1	G	A	17: 71,415,666 (GRCm39)	C1256Y	probably damaging	Het
Ndc80	G	A	17: 71,827,920 (GRCm39)	T104I	probably benign	Het
Or1x2	T	A	11: 50,918,557 (GRCm39)	C243S	probably damaging	Het
Or2y1d	A	G	11: 49,321,632 (GRCm39)	T110A	probably benign	Het
Or51a8	T	C	7: 102,549,613 (GRCm39)	F13S	probably damaging	Het
Or5e1	A	T	7: 108,355,003 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,969,273 (GRCm39)	N679S	probably damaging	Het
Polq	G	A	16: 36,911,411 (GRCm39)	R2382K	probably benign	Het
Recql4	C	T	15: 76,590,468 (GRCm39)	R672Q	probably benign	Het
Selenbp2	A	G	3: 94,606,945 (GRCm39)	N197S	probably damaging	Het
Sirpb1a	C	A	3: 15,491,388 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,054,856 (GRCm39)	D832E	probably benign	Het
Slc13a1	G	A	6: 24,118,002 (GRCm39)	A245V	probably damaging	Het
Unc80	A	G	1: 66,548,633 (GRCm39)	D635G	probably damaging	Het
Utp18	T	C	11: 93,766,882 (GRCm39)	Q275R	probably damaging	Het
Wdr35	A	G	12: 9,058,692 (GRCm39)		probably null	Het
Zfyve26	A	G	12: 79,342,338 (GRCm39)	V36A	probably 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
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

2016-08-02