Mutagenetix > Incidental Mutations

Incidental Mutation 'R6730:Fam46c'

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530002

Institutional Source

Beutler Lab

Gene Symbol

Fam46c

Ensembl Gene

ENSMUSG00000044468

Gene Name

family with sequence similarity 46, member C

Synonyms

4930431B09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100472957 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 161 (N161I)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061455]

Predicted Effect

probably benign
Transcript: ENSMUST00000061455
AA Change: N161I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: N161I

Domain	Start	End	E-Value	Type
DUF1693	17	336	3.33e-241	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139833

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (44/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	A	3: 116,983,475	*59R	probably null	Het
Adam10	G	T	9: 70,740,176		probably null	Het
Adam2	A	T	14: 66,037,576	N569K	possibly damaging	Het
Adam20	T	C	8: 40,796,659	V602A	probably benign	Het
Adgrb3	T	C	1: 25,094,294	Y1237C	probably damaging	Het
Ago3	T	C	4: 126,371,545	T318A	probably null	Het
Aknad1	G	A	3: 108,752,339	G223D	possibly damaging	Het
Camkv	T	C	9: 107,948,317	S478P	possibly damaging	Het
Ccl27a	T	A	4: 41,773,342	H39L	probably damaging	Het
Ccser2	C	A	14: 36,879,086	S447I	probably damaging	Het
Clvs2	A	G	10: 33,528,521	L233P	probably damaging	Het
Csn1s2b	T	A	5: 87,822,268	H124Q	probably benign	Het
Dnhd1	T	C	7: 105,703,875	L2745P	probably benign	Het
Dync1i2	T	A	2: 71,247,140	F219L	probably benign	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Ephb6	C	T	6: 41,617,374	Q613*	probably null	Het
Erc2	A	C	14: 27,898,567	D50A	possibly damaging	Het
Fam149a	T	A	8: 45,381,174	D196V	probably damaging	Het
Ficd	T	C	5: 113,738,712	V316A	probably damaging	Het
Gstm6	T	A	3: 107,942,725	K18*	probably null	Het
Ighv1-62-1	A	T	12: 115,386,892	W52R	probably benign	Het
Klhl18	C	T	9: 110,428,911	C417Y	probably damaging	Het
Ly9	T	A	1: 171,605,169	Y92F	probably benign	Het
Mettl18	C	T	1: 163,997,181	T357I	probably damaging	Het
Myoz2	C	A	3: 123,016,627	G100C	probably damaging	Het
Olfr1297	A	G	2: 111,621,735	V113A	probably damaging	Het
Olfr517	A	T	7: 108,868,573	F194I	probably benign	Het
Olfr871	T	C	9: 20,212,502	I51T	probably benign	Het
Pars2	C	T	4: 106,653,431	L128F	probably damaging	Het
Pcsk6	G	T	7: 65,980,248	R374L	probably damaging	Het
Ptpn3	T	C	4: 57,270,088	T25A	probably benign	Het
Rab11fip1	G	A	8: 27,143,229	P1150S	probably damaging	Het
Rabep1	A	G	11: 70,940,386	Q831R	possibly damaging	Het
Rad17	T	C	13: 100,649,745		probably benign	Het
Rxfp1	T	A	3: 79,650,591	R527*	probably null	Het
Scnn1b	C	T	7: 121,902,877	P253S	probably damaging	Het
Skiv2l	G	A	17: 34,845,190	R507*	probably null	Het
Slc2a7	T	C	4: 150,158,148	F231S	probably damaging	Het
Svil	A	G	18: 5,049,311	N196S	probably benign	Het
Urb1	T	C	16: 90,779,083	S862G	possibly damaging	Het
Usp30	T	C	5: 114,103,709	S87P	probably damaging	Het
Vmn1r177	T	A	7: 23,865,812	H213L	probably damaging	Het
Vmn2r106	T	A	17: 20,278,834	I272L	possibly damaging	Het
Vmn2r120	T	A	17: 57,525,012	D259V	probably benign	Het

Other mutations in Fam46c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Fam46c	APN	3	100473356	missense	probably damaging	0.96
IGL01314:Fam46c	APN	3	100473174	missense	probably benign	0.18
IGL01409:Fam46c	APN	3	100473169	missense	probably damaging	1.00
IGL01817:Fam46c	APN	3	100472855	missense	probably damaging	1.00
IGL01863:Fam46c	APN	3	100472664	missense	probably benign	0.05
IGL01992:Fam46c	APN	3	100472630	missense	probably damaging	1.00
IGL02436:Fam46c	APN	3	100472507	missense	probably benign	0.43
R0111:Fam46c	UTSW	3	100472786	missense	probably damaging	1.00
R0529:Fam46c	UTSW	3	100472370	missense	probably benign	0.36
R1196:Fam46c	UTSW	3	100473000	missense	possibly damaging	0.73
R1242:Fam46c	UTSW	3	100472876	missense	probably damaging	1.00
R4671:Fam46c	UTSW	3	100473199	missense	probably benign	0.44
R5252:Fam46c	UTSW	3	100472708	missense	probably damaging	1.00
R8205:Fam46c	UTSW	3	100472822	missense	probably benign	0.04
R8282:Fam46c	UTSW	3	100473011	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTCCTCAAAATCCCCG -3'
(R):5'- TTGGGTTGCAAAGATCTGGATC -3'

Sequencing Primer
(F):5'- GTACATACTCTCCCCGATCACTGTG -3'
(R):5'- AGATCTGGATCTGATCTTTCACG -3'

Posted On

2018-08-01