Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Fam217a'

557951

Institutional Source

Beutler Lab

Gene Symbol

Fam217a

Ensembl Gene

ENSMUSG00000021414

Gene Name

family with sequence similarity 217, member A

Synonyms

1700026J04Rik

MMRRC Submission

045227-MU

Accession Numbers

Essential gene?

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

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35093943-35108293 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35094298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 487 (Y487C)

Ref Sequence

ENSEMBL: ENSMUSP00000021851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021851] [ENSMUST00000077853] [ENSMUST00000223834] [ENSMUST00000225242]

AlphaFold

Q9D9W6

Predicted Effect

probably benign
Transcript: ENSMUST00000021851
AA Change: Y487C

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021851
Gene: ENSMUSG00000021414
AA Change: Y487C

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 benign
Transcript: ENSMUST00000077853

SMART Domains

Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413

Domain	Start	End	E-Value	Type
low complexity region	40	62	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	102	123	N/A	INTRINSIC
low complexity region	142	150	N/A	INTRINSIC
low complexity region	156	170	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
low complexity region	210	233	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	284	294	N/A	INTRINSIC
low complexity region	299	324	N/A	INTRINSIC
low complexity region	340	360	N/A	INTRINSIC
low complexity region	390	417	N/A	INTRINSIC
low complexity region	435	497	N/A	INTRINSIC
low complexity region	521	535	N/A	INTRINSIC
low complexity region	562	581	N/A	INTRINSIC
S_TKc	687	1003	4.99e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220965

Predicted Effect

probably benign
Transcript: ENSMUST00000223834
AA Change: Y639C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000225242
AA Change: Y396C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,615,387 (GRCm39)	L272P	possibly damaging	Het
Ash2l	C	A	8: 26,317,348 (GRCm39)	G335V	probably damaging	Het
Atp13a1	T	A	8: 70,251,966 (GRCm39)		probably null	Het
Atp13a2	G	A	4: 140,734,295 (GRCm39)	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,934,460 (GRCm39)	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,720,150 (GRCm39)	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,875,843 (GRCm39)	V449A	probably benign	Het
Cfhr2	A	T	1: 139,758,839 (GRCm39)	C70*	probably null	Het
Chfr	C	A	5: 110,306,671 (GRCm39)	P472Q	probably benign	Het
Crybg2	G	A	4: 133,788,193 (GRCm39)	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,483,995 (GRCm39)	F244L	probably damaging	Het
Efcab11	A	T	12: 99,849,614 (GRCm39)	M23K		Het
Eif4a3l2	A	G	6: 116,528,329 (GRCm39)	I69V	probably benign	Het
Ercc8	T	A	13: 108,305,967 (GRCm39)	M114K	possibly damaging	Het
Farsb	T	C	1: 78,447,821 (GRCm39)	N205S	probably benign	Het
Glra1	A	G	11: 55,405,904 (GRCm39)	F370S	probably benign	Het
Gm12258	T	A	11: 58,749,299 (GRCm39)	M158K		Het
Gm14305	T	A	2: 176,412,736 (GRCm39)	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,214,035 (GRCm39)	Q611L	unknown	Het
H4c11	A	G	13: 21,919,321 (GRCm39)	H19R	unknown	Het
Haus6	T	C	4: 86,501,924 (GRCm39)	E649G	possibly damaging	Het
Hlcs	C	T	16: 94,063,585 (GRCm39)	D345N	possibly damaging	Het
Htt	C	A	5: 35,010,238 (GRCm39)	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,355,151 (GRCm39)	V481I	probably benign	Het
Jak3	T	C	8: 72,134,960 (GRCm39)	I531T	probably damaging	Het
Kng1	T	A	16: 22,898,428 (GRCm39)	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446 (GRCm39)	S4131T	probably damaging	Het
Npnt	A	G	3: 132,653,889 (GRCm39)	S31P	probably damaging	Het
Or1r1	A	T	11: 73,875,121 (GRCm39)	F104L	possibly damaging	Het
Or4c100	A	T	2: 88,355,990 (GRCm39)	Q21L	possibly damaging	Het
Or8h8	T	A	2: 86,753,092 (GRCm39)	K261N	probably damaging	Het
Paxx	A	T	2: 25,350,238 (GRCm39)	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528 (GRCm39)	R144Q	unknown	Het
Rab2b	C	A	14: 52,516,802 (GRCm39)		probably benign	Het
Rnf207	A	G	4: 152,396,237 (GRCm39)	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,655 (GRCm39)	Q12R		Het
Ryr3	T	G	2: 112,705,373 (GRCm39)	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,648,646 (GRCm39)	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,331,901 (GRCm39)	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,741,036 (GRCm39)	T537A	probably benign	Het
Slc9b2	T	C	3: 135,031,939 (GRCm39)	Y132H	unknown	Het
Sltm	T	C	9: 70,492,132 (GRCm39)	L725S	probably damaging	Het
Spz1	A	G	13: 92,712,435 (GRCm39)	C14R	probably benign	Het
Srrm4	T	A	5: 116,609,301 (GRCm39)	Q172L	unknown	Het
Synj2bp	T	C	12: 81,551,289 (GRCm39)	D92G	probably benign	Het
Tmem169	A	C	1: 72,340,229 (GRCm39)	T220P	probably benign	Het
Ttn	T	A	2: 76,718,372 (GRCm39)	I7270F	unknown	Het
Txndc16	T	G	14: 45,420,611 (GRCm39)	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,389 (GRCm39)	Y2499H		Het
Ugt2b38	T	C	5: 87,558,305 (GRCm39)	D452G	probably damaging	Het
Zfp12	T	A	5: 143,231,257 (GRCm39)	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,448,937 (GRCm39)	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,308,761 (GRCm39)	C492S	probably 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
IGL02302:Fam217a	APN	13	35,095,144 (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
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

Predicted Primers

PCR Primer
(F):5'- GAGTTCTACCCATGTCTTATCAAGG -3'
(R):5'- CCAGTTTAAACCCTTGCCAGG -3'

Sequencing Primer
(F):5'- ACCCATGTCTTATCAAGGTTTTTG -3'
(R):5'- GTTTAAACCCTTGCCAGGAACCC -3'

Posted On

2019-06-26