Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02302:Fam217a'

287408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam217a

Ensembl Gene

ENSMUSG00000021414

Gene Name

family with sequence similarity 217, member A

Synonyms

1700026J04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL02302

Quality Score

Status

Chromosome

Chromosomal Location

35093943-35108293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35095144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 357 (E357G)

Ref Sequence

ENSEMBL: ENSMUSP00000153297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000223834] [ENSMUST00000225242]

AlphaFold

Q9D9W6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021851
AA Change: E205G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: E205G

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:FAM217	206	411	2e-54	PFAM
low complexity region	425	436	N/A	INTRINSIC
low complexity region	444	455	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223834
AA Change: E357G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224613

Predicted Effect

probably damaging
Transcript: ENSMUST00000225242
AA Change: E114G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	A	T	1: 57,422,257 (GRCm39)	Q211L	possibly damaging	Het
Abca14	T	A	7: 119,917,968 (GRCm39)		probably benign	Het
Abcb10	A	T	8: 124,685,411 (GRCm39)	V543D	possibly damaging	Het
Ankrd17	G	A	5: 90,431,057 (GRCm39)	T909I	probably benign	Het
Arhgef3	A	G	14: 27,084,799 (GRCm39)	N76S	probably benign	Het
Bbx	A	T	16: 50,045,278 (GRCm39)	C320S	probably damaging	Het
Castor2	G	A	5: 134,164,482 (GRCm39)	V148I	possibly damaging	Het
Cdh23	C	A	10: 60,159,302 (GRCm39)	V2159F	possibly damaging	Het
Cmtr2	G	A	8: 110,948,136 (GRCm39)	A149T	probably damaging	Het
Cntnap4	A	G	8: 113,512,535 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,709,482 (GRCm39)	F1905I	unknown	Het
Ddx60	A	G	8: 62,428,866 (GRCm39)	Y792C	possibly damaging	Het
Dennd2b	A	G	7: 109,124,538 (GRCm39)	V1101A	probably damaging	Het
Dock4	T	C	12: 40,775,776 (GRCm39)	L573P	probably damaging	Het
Dop1b	A	G	16: 93,607,005 (GRCm39)	I2103V	probably benign	Het
Ear1	T	G	14: 44,056,504 (GRCm39)	Q121H	probably benign	Het
Eprs1	T	A	1: 185,119,321 (GRCm39)		probably benign	Het
Ero1a	T	C	14: 45,530,619 (GRCm39)	K271R	probably benign	Het
Esyt1	A	G	10: 128,348,236 (GRCm39)	L884P	probably damaging	Het
F2r	T	C	13: 95,741,160 (GRCm39)	N125S	probably damaging	Het
Gabbr1	C	T	17: 37,365,689 (GRCm39)	R123W	probably damaging	Het
Gimap4	T	G	6: 48,667,347 (GRCm39)	V34G	probably damaging	Het
Gm3248	A	T	14: 5,943,011 (GRCm38)	V180E	probably benign	Het
Hecw2	A	T	1: 53,972,407 (GRCm39)	N204K	probably damaging	Het
Ighv1-84	T	A	12: 115,944,549 (GRCm39)	K42*	probably null	Het
Kcnh7	T	A	2: 62,536,402 (GRCm39)	Q1060L	probably damaging	Het
Kif3b	T	A	2: 153,158,868 (GRCm39)	I223N	probably damaging	Het
Lama2	G	A	10: 27,088,039 (GRCm39)	P913S	probably benign	Het
Lgr4	A	G	2: 109,832,841 (GRCm39)	I334M	probably damaging	Het
Lrrc45	G	T	11: 120,609,351 (GRCm39)	E403D	possibly damaging	Het
Mccc2	A	G	13: 100,090,747 (GRCm39)	L462P	probably damaging	Het
Mfsd13b	T	C	7: 120,598,132 (GRCm39)	V346A	probably damaging	Het
Muc6	T	C	7: 141,227,763 (GRCm39)	T1342A	possibly damaging	Het
Mxd3	T	C	13: 55,477,091 (GRCm39)	N56S	probably benign	Het
Niban2	A	G	2: 32,811,135 (GRCm39)	I382V	probably benign	Het
Ntn5	G	T	7: 45,343,672 (GRCm39)	R337L	probably damaging	Het
Nynrin	A	G	14: 56,105,962 (GRCm39)	K894E	probably benign	Het
Or1j4	G	T	2: 36,740,715 (GRCm39)	G219V	probably benign	Het
Or2a25	T	A	6: 42,889,272 (GRCm39)	Y272N	probably damaging	Het
Or4f56	A	C	2: 111,703,887 (GRCm39)	S104R	possibly damaging	Het
Or7e168	A	T	9: 19,719,981 (GRCm39)	R122S	probably damaging	Het
Pappa2	T	C	1: 158,542,571 (GRCm39)	D1772G	probably benign	Het
Pcdh18	G	T	3: 49,710,387 (GRCm39)	F309L	probably benign	Het
Pcdhac2	G	T	18: 37,279,006 (GRCm39)	R662L	probably damaging	Het
Ppp5c	G	A	7: 16,742,555 (GRCm39)	S261L	possibly damaging	Het
Qng1	G	A	13: 58,529,749 (GRCm39)	R288W	probably damaging	Het
Rc3h1	T	C	1: 160,765,675 (GRCm39)		probably benign	Het
Rfx8	A	C	1: 39,704,682 (GRCm39)	S578A	possibly damaging	Het
Rhbdl3	T	G	11: 80,244,507 (GRCm39)	*405E	probably null	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf139	G	T	15: 58,770,606 (GRCm39)	L210F	probably damaging	Het
Rragc	A	G	4: 123,814,879 (GRCm39)	R192G	possibly damaging	Het
Ryr3	A	T	2: 112,794,701 (GRCm39)	V137E	probably damaging	Het
S100pbp	A	T	4: 129,076,234 (GRCm39)	D30E	probably damaging	Het
Smchd1	A	T	17: 71,665,128 (GRCm39)		probably benign	Het
Sppl3	T	A	5: 115,220,390 (GRCm39)	C101S	probably benign	Het
St8sia6	T	C	2: 13,728,324 (GRCm39)	T74A	probably benign	Het
Sult3a1	A	G	10: 33,742,571 (GRCm39)	N66S	possibly damaging	Het
Sv2b	T	A	7: 74,773,947 (GRCm39)	K508M	probably damaging	Het
Terf1	T	C	1: 15,903,626 (GRCm39)	S275P	probably damaging	Het
Tmed8	G	T	12: 87,220,990 (GRCm39)	H199N	probably damaging	Het
Tubg2	A	T	11: 101,046,971 (GRCm39)	Q9L	probably damaging	Het
Ubxn4	C	T	1: 128,183,848 (GRCm39)		probably benign	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zfp213	A	G	17: 23,776,945 (GRCm39)	S366P	possibly damaging	Het

Other mutations in Fam217a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Fam217a	APN	13	35,099,632 (GRCm39)	splice site	probably benign
IGL02222:Fam217a	APN	13	35,095,102 (GRCm39)	missense	probably damaging	1.00
IGL02371:Fam217a	APN	13	35,095,384 (GRCm39)	missense	possibly damaging	0.53
IGL02538:Fam217a	APN	13	35,095,096 (GRCm39)	missense	probably damaging	0.98
R0324:Fam217a	UTSW	13	35,094,944 (GRCm39)	missense	possibly damaging	0.71
R0616:Fam217a	UTSW	13	35,097,666 (GRCm39)	missense	probably benign	0.03
R1497:Fam217a	UTSW	13	35,095,195 (GRCm39)	missense	probably damaging	0.97
R1934:Fam217a	UTSW	13	35,094,864 (GRCm39)	missense	probably damaging	1.00
R1981:Fam217a	UTSW	13	35,100,737 (GRCm39)	missense	probably benign	0.07
R2133:Fam217a	UTSW	13	35,097,663 (GRCm39)	missense	probably damaging	1.00
R2344:Fam217a	UTSW	13	35,094,318 (GRCm39)	missense	probably damaging	1.00
R4182:Fam217a	UTSW	13	35,094,239 (GRCm39)	missense	possibly damaging	0.75
R4601:Fam217a	UTSW	13	35,095,285 (GRCm39)	missense	probably damaging	1.00
R4909:Fam217a	UTSW	13	35,094,389 (GRCm39)	missense	probably damaging	1.00
R5583:Fam217a	UTSW	13	35,094,280 (GRCm39)	missense	probably damaging	1.00
R6027:Fam217a	UTSW	13	35,094,977 (GRCm39)	missense	possibly damaging	0.77
R6496:Fam217a	UTSW	13	35,094,785 (GRCm39)	nonsense	probably null
R7166:Fam217a	UTSW	13	35,094,298 (GRCm39)	missense	probably benign	0.07
R7394:Fam217a	UTSW	13	35,094,262 (GRCm39)	missense	possibly damaging	0.73
R7710:Fam217a	UTSW	13	35,095,111 (GRCm39)	missense	possibly damaging	0.92
R8409:Fam217a	UTSW	13	35,100,881 (GRCm39)	missense	probably benign
R8716:Fam217a	UTSW	13	35,108,248 (GRCm39)	start gained	probably benign
R8782:Fam217a	UTSW	13	35,095,033 (GRCm39)	missense	probably benign
R8936:Fam217a	UTSW	13	35,095,147 (GRCm39)	missense	probably damaging	1.00
R9036:Fam217a	UTSW	13	35,095,007 (GRCm39)	missense	possibly damaging	0.93
R9333:Fam217a	UTSW	13	35,100,876 (GRCm39)	missense	probably benign	0.00
R9347:Fam217a	UTSW	13	35,094,662 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16