Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03354:Fam227a'

419847

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03354

Quality Score

Status

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79636750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 295 (D295G)

Ref Sequence

ENSEMBL: ENSMUSP00000139524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]

AlphaFold

Q9D3V8

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046816

SMART Domains

Protein: ENSMUSP00000048277
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
Pfam:FWWh	128	242	6.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109646

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564

Domain	Start	End	E-Value	Type
low complexity region	156	175	N/A	INTRINSIC
low complexity region	204	211	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109648
AA Change: D295G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: D295G

Domain	Start	End	E-Value	Type
Pfam:FWWh	134	295	1.4e-51	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187519
AA Change: D295G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: D295G

Domain	Start	End	E-Value	Type
Pfam:FWWh	132	295	1e-47	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191401

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229064
AA Change: D291G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230475

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,646,779	A309T	possibly damaging	Het
Abca15	C	A	7: 120,394,488	Y1310*	probably null	Het
Adad1	G	T	3: 37,106,173	C552F	probably damaging	Het
Adam22	A	G	5: 8,158,890	S180P	possibly damaging	Het
Anxa10	A	T	8: 62,096,744	D22E	probably damaging	Het
Astn1	T	C	1: 158,688,604	S1255P	probably damaging	Het
Bhlhe41	T	C	6: 145,864,203	T92A	probably damaging	Het
Bicc1	G	A	10: 70,946,602	P603S	probably benign	Het
Camk2d	T	C	3: 126,796,966		probably null	Het
Ccdc136	T	A	6: 29,419,103	I808N	probably damaging	Het
Cd200r3	C	T	16: 44,953,597	A124V	possibly damaging	Het
Cfap70	T	C	14: 20,431,982	E310G	probably damaging	Het
Cyp2d12	A	T	15: 82,558,961	D357V	probably damaging	Het
Dnah7b	G	A	1: 46,085,689	V173I	probably damaging	Het
Dnajb4	T	A	3: 152,186,478	E239D	probably benign	Het
Dzip1	G	A	14: 118,912,569		probably benign	Het
Emp2	A	G	16: 10,285,565	I74T	probably damaging	Het
Ermn	T	G	2: 58,052,622	E32A	probably benign	Het
F10	C	A	8: 13,045,089	T82N	probably benign	Het
Gm527	T	A	12: 64,922,380	F194I	probably damaging	Het
Gmcl1	G	A	6: 86,726,158	T98M	probably damaging	Het
Gucy2g	T	C	19: 55,233,080	R330G	possibly damaging	Het
Hist1h1e	C	T	13: 23,622,077		probably benign	Het
Kif1a	T	C	1: 93,060,235	H549R	probably damaging	Het
Klhl14	T	A	18: 21,651,728	D214V	probably damaging	Het
Lipo2	A	G	19: 33,730,870	F248S	probably benign	Het
Mctp2	C	T	7: 72,161,244	V661I	probably benign	Het
Myh15	A	T	16: 49,172,010	M1616L	probably benign	Het
Nlrp4b	A	T	7: 10,714,538	I223F	probably damaging	Het
Olfr1133	T	C	2: 87,645,595	N176S	probably damaging	Het
Olfr1367	T	C	13: 21,347,516	V196A	possibly damaging	Het
Olfr1368	T	C	13: 21,142,484	Y191C	probably damaging	Het
Olfr140	A	C	2: 90,051,567	C252W	probably damaging	Het
Olfr347	A	T	2: 36,734,512	S64C	possibly damaging	Het
Olfr347	G	T	2: 36,734,513	S64I	possibly damaging	Het
Olfr508	T	A	7: 108,630,528	C179S	possibly damaging	Het
Olfr706	A	G	7: 106,886,100	V239A	probably benign	Het
Pcsk4	T	C	10: 80,326,059	D116G	probably damaging	Het
Pibf1	A	G	14: 99,150,738	D440G	probably benign	Het
Plekho2	T	C	9: 65,559,421	E129G	probably null	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Rars	A	G	11: 35,824,475	L248P	probably damaging	Het
Ruvbl1	C	A	6: 88,479,215	Y90*	probably null	Het
Schip1	A	G	3: 68,494,965	D125G	possibly damaging	Het
Smarca2	T	C	19: 26,619,903	S62P	probably benign	Het
Sort1	T	C	3: 108,348,706	V656A	probably benign	Het
Tlr12	A	G	4: 128,615,937	L840P	probably damaging	Het
Trpm3	T	A	19: 22,856,718	I438N	probably damaging	Het
Ttc37	T	C	13: 76,182,822	V1457A	possibly damaging	Het
Wdr11	C	A	7: 129,625,302	F829L	probably benign	Het
Zdhhc11	A	T	13: 73,979,145	I214F	possibly damaging	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79634073	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79649655	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79612546	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79643938	intron	probably benign
IGL02362:Fam227a	APN	15	79643938	intron	probably benign
IGL02569:Fam227a	APN	15	79634122	missense	probably benign
IGL02713:Fam227a	APN	15	79636796	splice site	probably benign
IGL02734:Fam227a	APN	15	79617841	splice site	probably benign
IGL02816:Fam227a	APN	15	79626296	missense	possibly damaging	0.66
R0105:Fam227a	UTSW	15	79620832	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79640669	nonsense	probably null
R0437:Fam227a	UTSW	15	79643988	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79626268	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79620805	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79612537	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79634108	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79615381	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79626245	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79636762	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79620677	splice site	probably null
R1669:Fam227a	UTSW	15	79620677	splice site	probably null
R1967:Fam227a	UTSW	15	79637134	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79626276	missense	possibly damaging	0.83
R2197:Fam227a	UTSW	15	79623467	missense	probably damaging	0.97
R2230:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79636734	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79648733	splice site	probably null
R3943:Fam227a	UTSW	15	79620859	splice site	probably benign
R4811:Fam227a	UTSW	15	79615427	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79649711	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79637054	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79637061	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79640003	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79636735	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79615436	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79640058	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79640694	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79643350	missense	possibly damaging	0.53
R6532:Fam227a	UTSW	15	79636720	missense	probably benign	0.00
R7239:Fam227a	UTSW	15	79634062	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79617766	missense	probably benign
R7719:Fam227a	UTSW	15	79620712	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79634098	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79649758	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79640660	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79630070	missense	possibly damaging	0.53
R9014:Fam227a	UTSW	15	79620757	missense	possibly damaging	0.96
R9034:Fam227a	UTSW	15	79648751	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79617777	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79634083	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79642243	missense	probably benign	0.41

Posted On

2016-08-02