Mutagenetix > Incidental Mutations

Incidental Mutation 'R1196:Fam46c'

101101

Institutional Source

Beutler Lab

Gene Symbol

Fam46c

Ensembl Gene

ENSMUSG00000044468

Gene Name

family with sequence similarity 46, member C

Synonyms

4930431B09Rik

MMRRC Submission

039268-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1196 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

100451628-100489324 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100473000 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 147 (T147A)

Ref Sequence

ENSEMBL: ENSMUSP00000056872 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061455
AA Change: T147A

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: T147A

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

0.1312

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 94.9%
20x: 86.8%

Validation Efficiency

97% (38/39)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,245,092	I2112T	probably benign	Het
Agtpbp1	C	A	13: 59,450,318		probably benign	Het
Ash1l	T	C	3: 88,983,316	M834T	probably damaging	Het
Aspg	A	G	12: 112,116,524	T213A	possibly damaging	Het
Chpf2	T	C	5: 24,589,648	V272A	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Ddah2	G	T	17: 35,061,527	D215Y	probably damaging	Het
Dna2	C	T	10: 62,949,187	R28W	probably benign	Het
Fbrsl1	T	A	5: 110,374,519	M150L	probably benign	Het
Hmces	T	A	6: 87,936,182	D306E	probably benign	Het
Itga2	C	T	13: 114,866,155		probably null	Het
Jmjd1c	T	C	10: 67,239,236		probably benign	Het
Krr1	T	A	10: 111,975,657	H85Q	probably benign	Het
Krt83	C	T	15: 101,491,433	R6Q	probably benign	Het
Krtap24-1	T	C	16: 88,611,642	M199V	probably benign	Het
Krtap5-2	A	T	7: 142,174,883	C353*	probably null	Het
Myo7a	T	G	7: 98,097,673	I178L	possibly damaging	Het
Myof	G	A	19: 37,910,960	T1043I	probably damaging	Het
Noc4l	C	T	5: 110,650,584	E247K	probably damaging	Het
Notch4	T	C	17: 34,568,863	C437R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Olfr1180	A	T	2: 88,412,546	N37K	probably damaging	Het
Olfr859	A	G	9: 19,808,632	I105V	probably benign	Het
Pank4	T	C	4: 154,978,173	F584L	probably damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Ranbp2	T	A	10: 58,477,053	F1198L	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Ttc28	G	A	5: 111,225,677	S962N	probably damaging	Het
Unc13a	A	G	8: 71,654,986	I554T	probably damaging	Het
Zfc3h1	A	G	10: 115,411,961	D1023G	probably damaging	Het
Zfp791	T	A	8: 85,110,954	K94*	probably null	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
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
R8282:Fam46c	UTSW	3	100473011	missense	probably damaging	1.00
R8483:Fam46c	UTSW	3	100472468	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCGATCAGCCTGTTCTGAAG -3'
(R):5'- AGGACATTGTCCAGACTGTCCGAG -3'

Sequencing Primer
(F):5'- AGATGGTCAAAGGCTTCCTC -3'
(R):5'- TGGTCAAAGACAACGGCTTG -3'

Posted On

2014-01-15