Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Fam3c'

444127

Institutional Source

Beutler Lab

Gene Symbol

Fam3c

Ensembl Gene

ENSMUSG00000029672

Gene Name

FAM3 metabolism regulating signaling molecule C

Synonyms

Ilei, Fam3c, D6Wsu176e

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22306519-22356080 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 22355061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081288] [ENSMUST00000163371] [ENSMUST00000163963] [ENSMUST00000165576]

AlphaFold

Q91VU0

Predicted Effect

probably benign
Transcript: ENSMUST00000081288

SMART Domains

Protein: ENSMUSP00000080040
Gene: ENSMUSG00000029672

Domain	Start	End	E-Value	Type
PDB:2YOP\|C	18	194	9e-45	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000163371

SMART Domains

Protein: ENSMUSP00000128855
Gene: ENSMUSG00000029672

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163963

SMART Domains

Protein: ENSMUSP00000127559
Gene: ENSMUSG00000029672

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:ILEI	122	214	1.9e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165576

SMART Domains

Protein: ENSMUSP00000127709
Gene: ENSMUSG00000029672

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
PDB:2YOP\|C	48	224	4e-44	PDB

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out or gene trap allele exhibit normal skeletal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Ubr7	T	C	12: 102,734,526 (GRCm39)	S267P	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	probably damaging	Het

Other mutations in Fam3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Fam3c	APN	6	22,318,947 (GRCm39)	missense	probably damaging	1.00
IGL01958:Fam3c	APN	6	22,318,954 (GRCm39)	missense	probably damaging	1.00
IGL02017:Fam3c	APN	6	22,343,276 (GRCm39)	start codon destroyed	probably null	0.66
PIT4812001:Fam3c	UTSW	6	22,321,369 (GRCm39)	missense	probably damaging	1.00
R1829:Fam3c	UTSW	6	22,309,436 (GRCm39)	missense	probably damaging	1.00
R2024:Fam3c	UTSW	6	22,329,592 (GRCm39)	missense	probably benign	0.33
R2884:Fam3c	UTSW	6	22,329,581 (GRCm39)	missense	probably damaging	0.98
R5481:Fam3c	UTSW	6	22,321,357 (GRCm39)	missense	probably benign	0.30
R5911:Fam3c	UTSW	6	22,339,299 (GRCm39)	missense	probably benign	0.00
R5911:Fam3c	UTSW	6	22,328,560 (GRCm39)	missense	probably damaging	1.00
R6575:Fam3c	UTSW	6	22,329,607 (GRCm39)	missense	probably damaging	1.00
R6687:Fam3c	UTSW	6	22,328,669 (GRCm39)	missense	probably benign	0.03
R6982:Fam3c	UTSW	6	22,322,300 (GRCm39)	missense	probably damaging	1.00
R7570:Fam3c	UTSW	6	22,326,404 (GRCm39)	intron	probably benign
R7777:Fam3c	UTSW	6	22,328,573 (GRCm39)	missense	probably benign	0.19
R7994:Fam3c	UTSW	6	22,308,459 (GRCm39)	missense	probably damaging	0.98
R8082:Fam3c	UTSW	6	22,343,303 (GRCm39)	missense	unknown
R8254:Fam3c	UTSW	6	22,328,675 (GRCm39)	missense	possibly damaging	0.88
R9477:Fam3c	UTSW	6	22,308,479 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-11-09