Mutagenetix > Incidental Mutation

Incidental Mutation 'R4577:Fam166a'

342518

Institutional Source

Beutler Lab

Gene Symbol

Fam166a

Ensembl Gene

ENSMUSG00000026969

Gene Name

family with sequence similarity 166, member A

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R4577 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25218745-25222280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25220288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000028346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028346] [ENSMUST00000043584]

AlphaFold

Q9D4K5

Predicted Effect

probably benign
Transcript: ENSMUST00000028346
AA Change: S71P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000028346
Gene: ENSMUSG00000026969
AA Change: S71P

Domain	Start	End	E-Value	Type
Pfam:DUF2475	13	71	8.1e-16	PFAM
low complexity region	130	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043584

SMART Domains

Protein: ENSMUSP00000042342
Gene: ENSMUSG00000036752

Domain	Start	End	E-Value	Type
Tubulin	47	244	1.04e-67	SMART
Tubulin_C	246	383	3.89e-49	SMART
low complexity region	428	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145607

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	G	7: 139,978,130	I51T	probably damaging	Het
Abca1	C	A	4: 53,062,568	C1429F	possibly damaging	Het
Acacb	A	G	5: 114,226,831	E1524G	probably damaging	Het
Ankrd50	A	G	3: 38,455,941	V759A	probably damaging	Het
Ano9	T	C	7: 141,104,138	Q538R	probably damaging	Het
Bnip2	A	G	9: 69,997,162	D67G	probably benign	Het
Cacna1e	A	T	1: 154,402,027	S2060T	possibly damaging	Het
Cand2	G	A	6: 115,791,259	C455Y	probably damaging	Het
Cdh16	T	C	8: 104,618,559	D366G	probably damaging	Het
Cep170b	A	G	12: 112,744,718	R595G	probably damaging	Het
Chaf1a	G	A	17: 56,065,184	R784Q	probably damaging	Het
Clca4a	C	A	3: 144,954,969	S698I	probably damaging	Het
Dnah5	A	C	15: 28,289,250	Y1195S	probably benign	Het
Dysf	T	C	6: 84,137,326	I1229T	probably damaging	Het
Eef2	GCCC	GCCCC	10: 81,178,767		probably null	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
F3	A	G	3: 121,734,114	I254V	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Fsd1l	T	C	4: 53,686,397	F270S	probably damaging	Het
Galnt3	T	C	2: 66,097,859	Y231C	probably benign	Het
Gm10220	A	C	5: 26,117,871	I181S	probably benign	Het
Gm13178	A	C	4: 144,703,753	I222S	probably damaging	Het
Gnb5	G	A	9: 75,343,541	V316I	possibly damaging	Het
Gys2	A	G	6: 142,454,510	F325S	possibly damaging	Het
Hmgn2	G	A	4: 133,967,357		probably benign	Het
Hsph1	A	G	5: 149,618,843	V705A	probably benign	Het
Ighg2b	T	C	12: 113,306,892	E206G	unknown	Het
Iqub	A	T	6: 24,501,291	I220N	probably damaging	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Kcnq3	T	C	15: 66,286,214	K4R	unknown	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
L3mbtl2	G	A	15: 81,686,285	E655K	probably benign	Het
Lrp1b	C	T	2: 40,821,719	C3163Y	probably damaging	Het
Map3k19	T	A	1: 127,822,813	R934*	probably null	Het
Map4	A	G	9: 110,081,421	T1061A	possibly damaging	Het
Mbnl1	G	A	3: 60,529,778	V50I	probably damaging	Het
Med15	G	A	16: 17,674,515	Q132*	probably null	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mtmr3	G	C	11: 4,497,375	L361V	probably damaging	Het
Myo5a	A	G	9: 75,217,545	E1792G	probably damaging	Het
Nup88	C	A	11: 70,969,717	A55S	probably damaging	Het
Olfr1252	T	C	2: 89,722,043	K23E	possibly damaging	Het
Olfr374	T	A	8: 72,110,323	Y252*	probably null	Het
Pacs1	G	T	19: 5,143,833	S556*	probably null	Het
Parp4	A	G	14: 56,590,410	E206G	probably benign	Het
Paxbp1	T	G	16: 91,015,154	K889N	probably damaging	Het
Pcdhga2	G	A	18: 37,669,249	A49T	possibly damaging	Het
Pcsk6	T	A	7: 65,959,266	L292*	probably null	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Plec	C	A	15: 76,184,069	Q1142H	possibly damaging	Het
Pnpla2	T	C	7: 141,457,344	S87P	probably damaging	Het
Prss28	T	C	17: 25,310,105	V140A	probably damaging	Het
Rad17	A	T	13: 100,633,278	S258T	probably damaging	Het
Rnf111	A	T	9: 70,429,584	C932*	probably null	Het
Sdc2	T	C	15: 33,017,132	Y31H	probably damaging	Het
Selenoh	T	C	2: 84,670,331	E55G	possibly damaging	Het
Serpina3k	T	G	12: 104,344,192	V327G	possibly damaging	Het
Setd1b	A	G	5: 123,148,616	E575G	unknown	Het
Slco1a4	A	T	6: 141,819,540	S325R	probably damaging	Het
Smtnl1	C	A	2: 84,818,443	V156L	possibly damaging	Het
Speg	A	G	1: 75,415,395	D1607G	probably damaging	Het
Tctex1d4	A	G	4: 117,128,615	T212A	possibly damaging	Het
Tmem101	T	A	11: 102,155,837	M69L	possibly damaging	Het
Treh	G	A	9: 44,685,911	M542I	probably benign	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Ttc6	T	C	12: 57,576,655	I280T	probably benign	Het
Ubtfl1	A	G	9: 18,409,493	T106A	probably damaging	Het
Wdr27	T	C	17: 14,903,462	H583R	probably benign	Het
Xirp2	C	T	2: 67,513,897	P2161S	probably damaging	Het

Other mutations in Fam166a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Fam166a	APN	2	25220333	missense	possibly damaging	0.90
IGL01712:Fam166a	APN	2	25218792	unclassified	probably benign
IGL03056:Fam166a	APN	2	25221355	missense	possibly damaging	0.73
IGL03232:Fam166a	APN	2	25221739	nonsense	probably null
R0368:Fam166a	UTSW	2	25220673	missense	probably benign
R0761:Fam166a	UTSW	2	25220123	unclassified	probably benign
R1997:Fam166a	UTSW	2	25220205	missense	probably damaging	1.00
R2106:Fam166a	UTSW	2	25220651	missense	probably damaging	0.99
R4575:Fam166a	UTSW	2	25220288	missense	probably benign	0.00
R4576:Fam166a	UTSW	2	25220288	missense	probably benign	0.00
R4578:Fam166a	UTSW	2	25220288	missense	probably benign	0.00
R5829:Fam166a	UTSW	2	25218857	critical splice donor site	probably null
R5896:Fam166a	UTSW	2	25220566	missense	probably benign
R6618:Fam166a	UTSW	2	25220623	missense	probably benign	0.02
R6905:Fam166a	UTSW	2	25220479	missense	probably benign	0.00
R7178:Fam166a	UTSW	2	25220240	missense	probably damaging	0.99
R7636:Fam166a	UTSW	2	25218820	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGAAATTGCAGGAGTGGTTTCTC -3'
(R):5'- GCTGGCCTAGGATCTCAAAATTC -3'

Sequencing Primer
(F):5'- GGAGTGGTTTCTCCCCTGC -3'
(R):5'- GGCCTAGGATCTCAAAATTCTTGTAG -3'

Posted On

2015-09-24