Mutagenetix > Incidental Mutations

Incidental Mutation 'R4671:Fam46c'

348409

Institutional Source

Beutler Lab

Gene Symbol

Fam46c

Ensembl Gene

ENSMUSG00000044468

Gene Name

family with sequence similarity 46, member C

Synonyms

4930431B09Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100473199 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 80 (L80F)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061455
AA Change: L80F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: L80F

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,718,859	I637V	probably benign	Het
Abcc2	T	C	19: 43,800,718	S271P	probably benign	Het
Acod1	T	G	14: 103,047,072	M2R	probably benign	Het
Adamts20	T	C	15: 94,403,325	E106G	possibly damaging	Het
Adgra3	G	A	5: 49,979,368	T661M	probably damaging	Het
Akap13	T	A	7: 75,579,564	C161*	probably null	Het
Akr1c12	A	C	13: 4,273,817	S162A	possibly damaging	Het
Anks1	C	A	17: 28,051,578	H805N	probably benign	Het
Arhgap22	T	C	14: 33,362,543	C260R	probably damaging	Het
Banf1	T	C	19: 5,365,844	R33G	probably benign	Het
Bcas1	T	C	2: 170,384,325	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,652,058	H1240N	probably damaging	Het
Cartpt	C	T	13: 99,900,080		probably null	Het
Ccdc127	T	A	13: 74,357,045	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 50,792,277	Y109*	probably null	Het
Cenpj	A	T	14: 56,553,383	V403E	possibly damaging	Het
Cps1	A	G	1: 67,196,560	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,999,808	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,894,407	N944I	probably benign	Het
Dus3l	C	T	17: 56,768,566	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,979,590	Q112*	probably null	Het
Eif1ad	T	A	19: 5,368,191	M1K	probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272	E366G	probably benign	Het
Gin1	C	T	1: 97,784,840	P154S	probably damaging	Het
Gm11938	A	T	11: 99,603,006	C88S	possibly damaging	Het
Gm38394	A	G	1: 133,657,040	V853A	probably benign	Het
Gpr183	T	C	14: 121,954,737	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,238,068	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,184	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175	T646A	probably benign	Het
Kif23	A	T	9: 61,945,359	D24E	probably benign	Het
Kmt2c	T	C	5: 25,366,177	N845S	probably damaging	Het
Lhx5	G	A	5: 120,439,967	S284N	probably benign	Het
Lipf	T	G	19: 33,976,676	V389G	possibly damaging	Het
Lrrc7	C	T	3: 158,202,495		probably null	Het
Magi1	A	G	6: 93,680,787		probably null	Het
Mast2	A	G	4: 116,308,650	S1287P	probably damaging	Het
Mepce	C	T	5: 137,786,643		probably benign	Het
Mkrn1	A	G	6: 39,405,757	V173A	probably damaging	Het
Myo1c	C	T	11: 75,670,030	R770*	probably null	Het
Naip6	A	G	13: 100,294,731		probably null	Het
Nsmce3	A	T	7: 64,872,782	L46Q	probably benign	Het
Olfr1294	A	T	2: 111,537,935	M118K	probably damaging	Het
Olfr354	G	A	2: 36,907,393	C149Y	probably benign	Het
Olfr531	T	G	7: 140,400,305	Y247S	probably damaging	Het
Olfr681	T	C	7: 105,122,306	L283P	probably damaging	Het
Olfr78	A	G	7: 102,742,601	V134A	probably damaging	Het
Parp14	A	G	16: 35,858,321	F426L	probably benign	Het
Pcf11	A	T	7: 92,657,529	S1144T	possibly damaging	Het
Prpf3	T	A	3: 95,851,664	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,906,869	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,574,466	V678A	probably benign	Het
Rb1	A	G	14: 73,273,676	L331S	probably damaging	Het
Sell	A	G	1: 164,065,473	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,948,082	R328W	probably damaging	Het
Sertad3	T	G	7: 27,476,666	L175R	possibly damaging	Het
Stard9	G	T	2: 120,698,640	G1793W	probably damaging	Het
Stra6	T	C	9: 58,149,234	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,649,178	L154P	probably damaging	Het
Tonsl	A	T	15: 76,623,410	D55E	probably benign	Het
Ttc21b	A	G	2: 66,226,913	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,346,620	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,554,878	S22N	probably damaging	Het
Ubr4	T	C	4: 139,436,191	V2634A	possibly damaging	Het
Zfp46	A	C	4: 136,290,173	D106A	probably damaging	Het
Zfp951	A	C	5: 104,814,701	I333S	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
R5252:Fam46c	UTSW	3	100472708	missense	probably damaging	1.00
R6730:Fam46c	UTSW	3	100472957	missense	probably benign	0.07
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'- GTGTCTGTGCAAACCTTCACC -3'
(R):5'- TGCTCAACTGGGATCAGGTTAG -3'

Sequencing Primer
(F):5'- ACCAGCTTCTGCACGTACG -3'
(R):5'- ATCAGGTTAGCCGGCTGCAC -3'

Posted On

2015-10-08