Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Fam46c'

638239

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100473011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

AlphaFold

Q5SSF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061455
AA Change: V143A

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

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: V143A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,510,337	D173E	probably benign	Het
Ahctf1	T	C	1: 179,777,806	D721G	possibly damaging	Het
Allc	T	C	12: 28,557,357	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,323,041		probably benign	Het
Axl	C	T	7: 25,763,954	D633N	probably benign	Het
Brf2	G	T	8: 27,124,593	R30S		Het
Bsn	A	G	9: 108,107,691	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ces1d	A	T	8: 93,186,112	S233T	possibly damaging	Het
Chst15	T	A	7: 132,270,150	H134L	probably benign	Het
Col14a1	A	G	15: 55,420,880	T846A	unknown	Het
Cwh43	A	T	5: 73,434,229	D555V	probably damaging	Het
Cyld	C	A	8: 88,705,415	P14T	probably benign	Het
Dctn1	G	A	6: 83,199,756	R1264H	possibly damaging	Het
Dkk3	T	A	7: 112,118,282	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,890,566	H22P	unknown	Het
Fabp4	T	A	3: 10,205,282	T103S	probably benign	Het
Fam129b	A	G	2: 32,919,017	E205G	probably benign	Het
Fam43a	T	C	16: 30,601,288	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 76,002,775		probably benign	Het
Fank1	T	A	7: 133,876,764	Y186N	probably damaging	Het
Fbxo8	G	A	8: 56,591,520	R286K	possibly damaging	Het
Fmnl2	G	A	2: 53,107,666		probably null	Het
Gli2	T	A	1: 118,837,971	S817C	probably damaging	Het
Gm10110	C	T	14: 89,898,241	V76M	noncoding transcript	Het
Gm13212	A	T	4: 145,622,977	D328V	possibly damaging	Het
Gm4981	T	G	10: 58,236,326	Q22P	possibly damaging	Het
Gstt2	C	G	10: 75,832,457	A155P	probably benign	Het
Ints9	T	A	14: 65,007,308	M213K	probably benign	Het
Jak1	G	A	4: 101,179,541	R301*	probably null	Het
Kdsr	T	C	1: 106,724,997	T302A	probably benign	Het
Khsrp	T	C	17: 57,024,123	E460G	probably damaging	Het
Larp1b	G	A	3: 41,036,810	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,191,489	K487R	probably damaging	Het
Nwd1	T	A	8: 72,704,952	S1193T	probably damaging	Het
Olfr1122	A	T	2: 87,388,508	T268S	probably benign	Het
Olfr195	T	A	16: 59,149,166	C105*	probably null	Het
Olfr921	G	A	9: 38,775,281	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,814,703	H636R	probably damaging	Het
Pdilt	A	G	7: 119,498,070	I266T	probably damaging	Het
Rell2	A	T	18: 37,957,612	Q114L	probably benign	Het
Rfc1	A	G	5: 65,268,946		probably null	Het
Rpia	T	C	6: 70,771,018	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,579,920		probably null	Het
Samd12	T	C	15: 53,860,249	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,098,689		probably null	Het
Slc6a3	T	A	13: 73,557,081	D230E	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Synpo2l	A	G	14: 20,661,136	V472A	probably benign	Het
Taf6l	A	G	19: 8,773,350	I120T	possibly damaging	Het
Trappc11	T	C	8: 47,516,589	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,199,042	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,254,581	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,715,674	Y212*	probably null	Het
Vps54	T	A	11: 21,300,464		probably benign	Het
Zfp648	T	A	1: 154,204,789	H231Q	probably benign	Het
Zscan4d	T	A	7: 11,162,442	T334S	possibly damaging	Het
Zswim9	T	C	7: 13,261,610	M207V	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
R6730:Fam46c	UTSW	3	100472957	missense	probably benign	0.07
R8205:Fam46c	UTSW	3	100472822	missense	probably benign	0.04
R8483:Fam46c	UTSW	3	100472468	missense	probably damaging	1.00
R8883:Fam46c	UTSW	3	100472391	missense	probably benign	0.01
R9052:Fam46c	UTSW	3	100473302	missense	probably benign	0.12
R9259:Fam46c	UTSW	3	100472324	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACTGTGGGGTGGAAATGC -3'
(R):5'- ACGTTTTGGTCAAAGACAACGG -3'

Sequencing Primer
(F):5'- CTCGGAGATGGGATTGCC -3'
(R):5'- TTTGGTCAAAGACAACGGCTTGG -3'

Posted On

2020-07-28