Mutagenetix > Incidental Mutation

Incidental Mutation 'R2098:Fam3d'

230394

Institutional Source

Beutler Lab

Gene Symbol

Fam3d

Ensembl Gene

ENSMUSG00000021749

Gene Name

FAM3 metabolism regulating signaling molecule D

Synonyms

Oit1, 2310076N21Rik, EF-7

MMRRC Submission

040102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R2098 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14091019-14120836 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8361479 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 47 (I47V)

Ref Sequence

ENSEMBL: ENSMUSP00000022269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022269] [ENSMUST00000224529]

AlphaFold

P97805

Predicted Effect

probably benign
Transcript: ENSMUST00000022269
AA Change: I47V

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022269
Gene: ENSMUSG00000021749
AA Change: I47V

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:ILEI	98	190	3.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224529

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a targeted mutation exhibit emotion/affect abnormalities including decreased anxiety and depression responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,927,405 (GRCm39)	E1316G	probably damaging	Het
Arhgap32	C	A	9: 32,171,207 (GRCm39)	T1329K	probably damaging	Het
Arhgef10l	G	C	4: 140,306,743 (GRCm39)	L104V	probably damaging	Het
Bend3	T	C	10: 43,386,500 (GRCm39)	S298P	probably damaging	Het
Cacna1b	C	T	2: 24,540,558 (GRCm39)	V1385M	probably damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Cd84	G	A	1: 171,713,148 (GRCm39)	C291Y	probably benign	Het
Cdhr2	A	G	13: 54,863,457 (GRCm39)	I113V	probably benign	Het
Cfap206	G	A	4: 34,719,053 (GRCm39)	Q318*	probably null	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cyth1	T	A	11: 118,084,479 (GRCm39)	I25F	probably damaging	Het
Dock2	A	T	11: 34,216,279 (GRCm39)	N1208K	probably benign	Het
Dock2	A	G	11: 34,609,832 (GRCm39)	S203P	probably damaging	Het
Ehbp1l1	G	T	19: 5,758,686 (GRCm39)	T1652K	possibly damaging	Het
Eps8l2	G	A	7: 140,935,705 (GRCm39)		probably null	Het
Gm10250	A	G	15: 5,150,296 (GRCm39)		probably benign	Het
Gm9772	T	C	17: 22,225,618 (GRCm39)	H94R	probably benign	Het
Hspg2	G	A	4: 137,247,420 (GRCm39)	G1184D	probably damaging	Het
Igfn1	T	A	1: 135,906,043 (GRCm39)	D255V	probably damaging	Het
Marf1	T	C	16: 13,932,064 (GRCm39)	H1651R	probably benign	Het
Mllt10	T	C	2: 18,167,464 (GRCm39)	V385A	possibly damaging	Het
Mmp1b	G	A	9: 7,386,984 (GRCm39)	S76L	probably benign	Het
Mrps2	C	A	2: 28,358,327 (GRCm39)	T39K	probably benign	Het
Myo6	T	C	9: 80,188,808 (GRCm39)	Y715H	probably damaging	Het
Nsun7	A	G	5: 66,441,055 (GRCm39)	E392G	probably damaging	Het
Obscn	C	T	11: 58,960,817 (GRCm39)	E3374K	probably damaging	Het
Or2a20	G	A	6: 43,194,437 (GRCm39)	V197I	probably benign	Het
Or4c11	A	T	2: 88,695,215 (GRCm39)	I89F	probably benign	Het
Or56a4	A	G	7: 104,806,478 (GRCm39)	V137A	probably benign	Het
Or5w13	A	T	2: 87,524,073 (GRCm39)	M51K	probably benign	Het
Pkd2	C	T	5: 104,626,768 (GRCm39)	P317S	probably damaging	Het
Prl5a1	T	C	13: 28,329,488 (GRCm39)	S56P	probably damaging	Het
Psmd1	A	G	1: 86,009,823 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,733,305 (GRCm39)	C732R	probably damaging	Het
Rad51c	A	T	11: 87,293,589 (GRCm39)	V71E	probably benign	Het
Scn11a	A	T	9: 119,621,560 (GRCm39)	I619K	possibly damaging	Het
Sgpp1	T	G	12: 75,763,284 (GRCm39)	D299A	probably damaging	Het
Slc16a4	C	A	3: 107,208,163 (GRCm39)	Y224*	probably null	Het
Slc22a30	G	A	19: 8,378,175 (GRCm39)	S167L	probably damaging	Het
Slc6a5	T	C	7: 49,595,315 (GRCm39)	I559T	probably damaging	Het
Spire1	A	G	18: 67,636,536 (GRCm39)	F364L	probably damaging	Het
Srek1	G	A	13: 103,881,363 (GRCm39)	T421I	unknown	Het
St8sia4	T	C	1: 95,581,253 (GRCm39)	H163R	probably damaging	Het
Supt6	A	G	11: 78,104,087 (GRCm39)		probably null	Het
Tas2r103	T	C	6: 133,013,560 (GRCm39)	T169A	probably benign	Het
Thrap3	A	G	4: 126,073,823 (GRCm39)	S308P	probably damaging	Het
V1rd19	C	T	7: 23,703,160 (GRCm39)	L209F	probably damaging	Het
Zfp267	T	A	3: 36,220,289 (GRCm39)	S771T	probably benign	Het

Other mutations in Fam3d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02795:Fam3d	APN	14	8,355,497 (GRCm38)	missense	probably benign
IGL02850:Fam3d	APN	14	8,361,475 (GRCm38)	critical splice donor site	probably null
R0899:Fam3d	UTSW	14	8,364,863 (GRCm38)	missense	probably damaging	0.99
R4304:Fam3d	UTSW	14	8,349,324 (GRCm38)	missense	probably damaging	1.00
R4356:Fam3d	UTSW	14	8,349,314 (GRCm38)	missense	probably damaging	1.00
R4603:Fam3d	UTSW	14	8,358,429 (GRCm38)	missense	probably damaging	0.99
R4705:Fam3d	UTSW	14	8,349,347 (GRCm38)	missense	probably benign	0.01
R5650:Fam3d	UTSW	14	8,357,142 (GRCm38)	missense	probably damaging	0.99
R5679:Fam3d	UTSW	14	8,349,305 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGAGTTAAGAGTCCCCAGC -3'
(R):5'- ACAAGTGAGGAAAAGCTCCC -3'

Sequencing Primer
(F):5'- TTAAGAGTCCCCAGCAGTCTGAATG -3'
(R):5'- CTCCCGTATGTAACAGGGTGTC -3'

Posted On

2014-09-18