Incidental Mutation 'IGL02484:Fnd3c2'
ID 295367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnd3c2
Ensembl Gene ENSMUSG00000073012
Gene Name fibronectin type III domain containing 3C2
Synonyms 5031408O05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.034) question?
Stock # IGL02484
Quality Score
Status
Chromosome X
Chromosomal Location 105278852-105298978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105289092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 442 (H442Q)
Ref Sequence ENSEMBL: ENSMUSP00000088827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091282]
AlphaFold A2AP83
Predicted Effect probably damaging
Transcript: ENSMUST00000091282
AA Change: H442Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000088827
Gene: ENSMUSG00000073012
AA Change: H442Q

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
FN3 139 223 5.07e0 SMART
FN3 237 317 3.93e-9 SMART
FN3 332 414 5.11e-8 SMART
FN3 429 513 2.21e-3 SMART
FN3 613 688 3.93e-9 SMART
FN3 702 783 2.31e-6 SMART
FN3 798 876 2.14e-1 SMART
low complexity region 896 916 N/A INTRINSIC
transmembrane domain 922 940 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,262,777 (GRCm39) noncoding transcript Het
Araf A G X: 20,720,148 (GRCm39) probably benign Het
Arrb2 T A 11: 70,330,300 (GRCm39) V308E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Astn2 G A 4: 65,910,516 (GRCm39) probably benign Het
Cactin T A 10: 81,158,808 (GRCm39) I258N probably benign Het
Calhm6 T C 10: 34,002,400 (GRCm39) T228A probably benign Het
Catsperg1 T C 7: 28,910,345 (GRCm39) probably benign Het
Ccna1 C T 3: 54,955,915 (GRCm39) D146N probably benign Het
Chrna3 T C 9: 54,922,821 (GRCm39) Y329C probably damaging Het
Ctps2 G A X: 161,693,005 (GRCm39) G56D probably damaging Het
Cyp4b1 T C 4: 115,504,754 (GRCm39) D44G probably benign Het
D3Ertd751e A G 3: 41,708,155 (GRCm39) probably null Het
Daxx T C 17: 34,131,216 (GRCm39) V381A probably damaging Het
Dhx37 T A 5: 125,496,401 (GRCm39) I714F possibly damaging Het
Dnah7b T C 1: 46,234,478 (GRCm39) V1470A probably damaging Het
Efl1 T C 7: 82,332,247 (GRCm39) I297T probably damaging Het
Glp2r A C 11: 67,630,992 (GRCm39) V126G possibly damaging Het
Gm5699 G T 1: 31,037,843 (GRCm39) noncoding transcript Het
Gpt2 A G 8: 86,242,862 (GRCm39) D298G probably damaging Het
Gse1 G T 8: 121,302,001 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,420 (GRCm39) T65A probably benign Het
Ints8 G A 4: 11,208,834 (GRCm39) Q955* probably null Het
Lrguk C T 6: 34,069,726 (GRCm39) P534S probably damaging Het
Lrp6 A G 6: 134,518,886 (GRCm39) F60L probably benign Het
Mamld1 T C X: 70,162,258 (GRCm39) I423T possibly damaging Het
Mrpl22 G A 11: 58,063,888 (GRCm39) S36N possibly damaging Het
Mug2 A G 6: 122,049,712 (GRCm39) E915G probably damaging Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or5b94 T C 19: 12,652,223 (GRCm39) F218S possibly damaging Het
Or5p68 C T 7: 107,945,813 (GRCm39) R125Q probably damaging Het
Pde4c T A 8: 71,200,701 (GRCm39) probably benign Het
Pdxdc1 T C 16: 13,693,945 (GRCm39) E159G possibly damaging Het
Poln T C 5: 34,286,721 (GRCm39) E149G probably damaging Het
Pou5f2 T G 13: 78,174,024 (GRCm39) L322R probably damaging Het
Ppm1k A T 6: 57,501,997 (GRCm39) S55R possibly damaging Het
Ptges2 T A 2: 32,287,719 (GRCm39) I149N probably damaging Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Raet1e A T 10: 22,056,666 (GRCm39) M81L probably benign Het
Sipa1l3 A G 7: 29,098,956 (GRCm39) S438P probably damaging Het
Skint5 T A 4: 113,799,750 (GRCm39) K126* probably null Het
Stfa2 T C 16: 36,225,569 (GRCm39) T37A probably damaging Het
Ttll12 A G 15: 83,465,897 (GRCm39) I433T possibly damaging Het
Vmn2r32 C T 7: 7,467,116 (GRCm39) G804D probably damaging Het
Zc3h14 A G 12: 98,740,560 (GRCm39) T84A probably benign Het
Other mutations in Fnd3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Fnd3c2 APN X 105,279,597 (GRCm39) missense probably damaging 1.00
IGL01515:Fnd3c2 APN X 105,282,093 (GRCm39) missense probably damaging 1.00
IGL03301:Fnd3c2 APN X 105,295,869 (GRCm39) missense probably benign 0.00
R0630:Fnd3c2 UTSW X 105,282,763 (GRCm39) missense probably benign 0.37
R0654:Fnd3c2 UTSW X 105,290,760 (GRCm39) missense possibly damaging 0.83
R1678:Fnd3c2 UTSW X 105,281,305 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16