Incidental Mutation 'IGL01518:Fndc3c1'
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ID89376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc3c1
Ensembl Gene ENSMUSG00000033737
Gene Namefibronectin type III domain containing 3C1
SynonymsLOC333564
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL01518
Quality Score
Status
ChromosomeX
Chromosomal Location106420041-106485401 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106431423 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 941 (N941S)
Ref Sequence ENSEMBL: ENSMUSP00000038678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039447]
Predicted Effect probably damaging
Transcript: ENSMUST00000039447
AA Change: N941S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: N941S

DomainStartEndE-ValueType
low complexity region 182 195 N/A INTRINSIC
Blast:FN3 200 303 8e-10 BLAST
low complexity region 308 332 N/A INTRINSIC
low complexity region 338 353 N/A INTRINSIC
FN3 449 537 2.64e-1 SMART
FN3 551 631 2.42e-9 SMART
FN3 646 728 1.37e-8 SMART
FN3 743 827 1.11e-3 SMART
FN3 915 994 3.42e-9 SMART
FN3 1015 1090 5.48e-8 SMART
FN3 1104 1185 2.48e-6 SMART
FN3 1200 1278 1.9e-2 SMART
low complexity region 1298 1313 N/A INTRINSIC
transmembrane domain 1333 1355 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151745
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik A C X: 66,304,054 V16G unknown Het
4933427I04Rik A T 4: 123,860,701 E136V probably benign Het
Aadac A G 3: 60,035,899 D75G probably damaging Het
Arfgap1 T A 2: 180,972,725 S125T probably benign Het
Atxn2 G T 5: 121,810,979 A813S probably damaging Het
Cadps C A 14: 12,522,352 S604I probably damaging Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Col4a4 T A 1: 82,455,759 M1488L unknown Het
Fryl T C 5: 73,086,962 Y1172C possibly damaging Het
Gm1527 T C 3: 28,895,588 probably benign Het
Hsf2 T C 10: 57,512,134 L458P probably damaging Het
Il2 T C 3: 37,123,007 T127A possibly damaging Het
Inpp5e A G 2: 26,397,934 Y617H probably damaging Het
Isoc2b G A 7: 4,850,764 S137F probably damaging Het
Map2 C T 1: 66,425,331 P241S probably damaging Het
Mfsd6 C A 1: 52,709,322 R128L probably damaging Het
Mrnip A G 11: 50,197,635 T153A probably damaging Het
Olfr1269 A G 2: 90,118,971 F209S possibly damaging Het
Olfr26 A T 9: 38,855,799 M246L probably benign Het
Pi4ka T C 16: 17,280,735 N2022S probably benign Het
Scrt2 C A 2: 152,093,640 R238S probably damaging Het
St3gal6 T A 16: 58,484,775 D108V probably benign Het
Tmem132b C T 5: 125,778,791 T529M probably damaging Het
Trappc11 T C 8: 47,501,869 probably null Het
Tspyl1 T A 10: 34,283,199 S307T possibly damaging Het
Ush2a A G 1: 188,399,785 S735G probably benign Het
Wnk2 T C 13: 49,068,192 M1186V possibly damaging Het
Other mutations in Fndc3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Fndc3c1 APN X 106445777 missense probably benign
IGL01408:Fndc3c1 APN X 106432772 missense probably benign 0.45
IGL01718:Fndc3c1 APN X 106445928 missense probably benign
IGL02143:Fndc3c1 APN X 106472734 splice site probably benign
IGL02214:Fndc3c1 APN X 106425829 missense probably benign 0.16
IGL03192:Fndc3c1 APN X 106436316 splice site probably null
IGL03199:Fndc3c1 APN X 106436387 missense possibly damaging 0.86
IGL03370:Fndc3c1 APN X 106420701 missense probably benign 0.04
R0644:Fndc3c1 UTSW X 106434962 missense probably benign 0.14
R0714:Fndc3c1 UTSW X 106425366 nonsense probably null
R1928:Fndc3c1 UTSW X 106433522 missense probably benign 0.28
R1998:Fndc3c1 UTSW X 106420705 missense probably benign 0.01
R1999:Fndc3c1 UTSW X 106420705 missense probably benign 0.01
R4110:Fndc3c1 UTSW X 106444291 missense probably benign 0.07
R4785:Fndc3c1 UTSW X 106437702 missense possibly damaging 0.87
R6623:Fndc3c1 UTSW X 106435073 missense possibly damaging 0.55
R7173:Fndc3c1 UTSW X 106435073 missense possibly damaging 0.55
R7208:Fndc3c1 UTSW X 106435073 missense possibly damaging 0.55
Z1176:Fndc3c1 UTSW X 106434329 missense not run
Posted On2013-12-03