Incidental Mutation 'R0899:Fam3d'
ID 83811
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 039059-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0899 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 14091019-14120836 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8364863 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 16 (I16T)
Ref Sequence ENSEMBL: ENSMUSP00000153041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022269] [ENSMUST00000224529]
AlphaFold P97805
Predicted Effect probably benign
Transcript: ENSMUST00000022269
AA Change: I16T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022269
Gene: ENSMUSG00000021749
AA Change: I16T

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:ILEI 98 190 3.1e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224529
AA Change: I16T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225127
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik T C 15: 84,833,459 (GRCm39) K442E probably damaging Het
Adamts1 G A 16: 85,594,940 (GRCm39) R340* probably null Het
Afg3l2 T C 18: 67,556,047 (GRCm39) N428S possibly damaging Het
Aqp12 G A 1: 92,934,332 (GRCm39) D70N probably damaging Het
Astn1 T A 1: 158,338,679 (GRCm39) C475* probably null Het
Atp2b1 G A 10: 98,852,893 (GRCm39) probably null Het
Cbln2 T C 18: 86,734,877 (GRCm39) S217P possibly damaging Het
Ces2h T C 8: 105,741,182 (GRCm39) L58P probably damaging Het
Cfap43 C T 19: 47,736,433 (GRCm39) G1353R possibly damaging Het
Crcp A G 5: 130,088,672 (GRCm39) M91V probably benign Het
Cubn A G 2: 13,367,139 (GRCm39) V1577A possibly damaging Het
Dthd1 A G 5: 63,000,271 (GRCm39) H531R probably benign Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fat2 C T 11: 55,147,051 (GRCm39) G3982S probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fcnb T A 2: 27,966,791 (GRCm39) K247N probably damaging Het
Gtf2a1l A G 17: 88,976,152 (GRCm39) N5S Het
Htr3a T A 9: 48,812,752 (GRCm39) D229V possibly damaging Het
Ipo11 A C 13: 107,037,324 (GRCm39) L173* probably null Het
Jam3 C A 9: 27,010,253 (GRCm39) G244W probably damaging Het
Lypd11 C T 7: 24,422,737 (GRCm39) R112H probably benign Het
Mrpl52 C T 14: 54,664,541 (GRCm39) R12* probably null Het
Myo15a A G 11: 60,368,011 (GRCm39) Y257C possibly damaging Het
Myocd G A 11: 65,086,018 (GRCm39) P215L possibly damaging Het
Ndst1 T C 18: 60,840,954 (GRCm39) T243A probably benign Het
Obox5 A T 7: 15,492,800 (GRCm39) T252S probably benign Het
Or5m13b A G 2: 85,753,731 (GRCm39) T40A probably benign Het
Or6c75 T C 10: 129,337,301 (GRCm39) F183L probably damaging Het
Or7g34 A C 9: 19,477,843 (GRCm39) V276G probably damaging Het
Osbpl1a T C 18: 12,890,747 (GRCm39) S377G possibly damaging Het
Pfkl A G 10: 77,841,273 (GRCm39) probably null Het
Prdm16 A T 4: 154,613,366 (GRCm39) N20K probably damaging Het
Prkd1 A G 12: 50,431,976 (GRCm39) I589T probably damaging Het
Scnn1b G A 7: 121,516,938 (GRCm39) G525S probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Ttn A G 2: 76,718,329 (GRCm39) probably benign Het
Wap T C 11: 6,586,725 (GRCm39) T125A probably benign Het
Wdr86 C T 5: 24,923,005 (GRCm39) R229Q probably benign Het
Other mutations in Fam3d
AlleleSourceChrCoordTypePredicted EffectPPH 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
R2098:Fam3d UTSW 14 8,361,479 (GRCm38) missense probably benign 0.14
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'- TGCTCTCCATAGCTTCCTGGAAGTC -3'
(R):5'- GTGGTCTCAGCACAGTCTCATGTC -3'

Sequencing Primer
(F):5'- CTGGAAGTCCAGGAATCTTATCC -3'
(R):5'- TCGTGGACATGATCTGTACAC -3'
Posted On 2013-11-08