Incidental Mutation 'IGL03199:Fndc3c1'
ID 412928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc3c1
Ensembl Gene ENSMUSG00000033737
Gene Name fibronectin type III domain containing 3C1
Synonyms LOC333564
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL03199
Quality Score
Status
Chromosome X
Chromosomal Location 105463647-105529007 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105479993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 696 (K696N)
Ref Sequence ENSEMBL: ENSMUSP00000038678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039447]
AlphaFold Q6DFV6
Predicted Effect possibly damaging
Transcript: ENSMUST00000039447
AA Change: K696N

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: K696N

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,556 (GRCm39) I151T possibly damaging Het
Alms1 T A 6: 85,599,479 (GRCm39) M1904K possibly damaging Het
Chsy3 T A 18: 59,309,473 (GRCm39) F242Y probably damaging Het
Cwf19l2 G A 9: 3,477,830 (GRCm39) G845D probably damaging Het
Cyfip2 A G 11: 46,167,670 (GRCm39) I244T probably benign Het
Dnah10 A T 5: 124,894,761 (GRCm39) Q3499L probably benign Het
Fat3 A G 9: 16,288,344 (GRCm39) V393A possibly damaging Het
Fcamr T A 1: 130,740,655 (GRCm39) V358D probably damaging Het
Igkv2-112 G A 6: 68,197,000 (GRCm39) M12I probably benign Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Map4k1 A G 7: 28,682,842 (GRCm39) E16G probably damaging Het
Myl7 C T 11: 5,848,205 (GRCm39) G50R probably damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Or10d4b A G 9: 39,535,240 (GRCm39) I272V probably benign Het
Prkcz A G 4: 155,357,441 (GRCm39) F157L possibly damaging Het
Sult2a1 C A 7: 13,566,585 (GRCm39) G130V probably damaging Het
Trim27 G A 13: 21,375,421 (GRCm39) probably null Het
Trim43b T G 9: 88,971,481 (GRCm39) Q225P probably damaging Het
Ugt2b34 A G 5: 87,054,739 (GRCm39) L14P unknown Het
Vmn1r209 A T 13: 22,990,220 (GRCm39) S157T possibly damaging Het
Vmn2r38 A T 7: 9,078,375 (GRCm39) V669D probably damaging Het
Vps35l T C 7: 118,365,611 (GRCm39) S15P probably benign Het
Zfp422 T C 6: 116,603,912 (GRCm39) Q29R probably benign Het
Zfp623 C T 15: 75,819,119 (GRCm39) A25V probably benign Het
Other mutations in Fndc3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Fndc3c1 APN X 105,489,383 (GRCm39) missense probably benign
IGL01408:Fndc3c1 APN X 105,476,378 (GRCm39) missense probably benign 0.45
IGL01518:Fndc3c1 APN X 105,475,029 (GRCm39) missense probably damaging 1.00
IGL01718:Fndc3c1 APN X 105,489,534 (GRCm39) missense probably benign
IGL02143:Fndc3c1 APN X 105,516,340 (GRCm39) splice site probably benign
IGL02214:Fndc3c1 APN X 105,469,435 (GRCm39) missense probably benign 0.16
IGL03192:Fndc3c1 APN X 105,479,922 (GRCm39) splice site probably null
IGL03370:Fndc3c1 APN X 105,464,307 (GRCm39) missense probably benign 0.04
R0644:Fndc3c1 UTSW X 105,478,568 (GRCm39) missense probably benign 0.14
R0714:Fndc3c1 UTSW X 105,468,972 (GRCm39) nonsense probably null
R1928:Fndc3c1 UTSW X 105,477,128 (GRCm39) missense probably benign 0.28
R1998:Fndc3c1 UTSW X 105,464,311 (GRCm39) missense probably benign 0.01
R1999:Fndc3c1 UTSW X 105,464,311 (GRCm39) missense probably benign 0.01
R4110:Fndc3c1 UTSW X 105,487,897 (GRCm39) missense probably benign 0.07
R4785:Fndc3c1 UTSW X 105,481,308 (GRCm39) missense possibly damaging 0.87
R6623:Fndc3c1 UTSW X 105,478,679 (GRCm39) missense possibly damaging 0.55
R7173:Fndc3c1 UTSW X 105,478,679 (GRCm39) missense possibly damaging 0.55
R7208:Fndc3c1 UTSW X 105,478,679 (GRCm39) missense possibly damaging 0.55
Z1176:Fndc3c1 UTSW X 105,477,935 (GRCm39) missense not run
Posted On 2016-08-02