Incidental Mutation 'IGL01810:Fndc3a'
ID 155820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc3a
Ensembl Gene ENSMUSG00000033487
Gene Name fibronectin type III domain containing 3A
Synonyms sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # IGL01810
Quality Score
Status
Chromosome 14
Chromosomal Location 72775386-72947443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72803581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 525 (Y525H)
Ref Sequence ENSEMBL: ENSMUSP00000124637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089017] [ENSMUST00000162478]
AlphaFold Q8BX90
Predicted Effect probably benign
Transcript: ENSMUST00000089017
AA Change: Y525H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: Y525H

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
FN3 266 358 3.05e-6 SMART
FN3 371 452 3.42e-9 SMART
FN3 467 549 1.84e-9 SMART
FN3 564 647 1.06e-5 SMART
FN3 662 744 2.19e-7 SMART
FN3 759 838 5.48e-8 SMART
FN3 864 937 2.28e-5 SMART
FN3 951 1032 3.22e-5 SMART
FN3 1047 1127 5.63e0 SMART
transmembrane domain 1175 1197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159144
Predicted Effect probably benign
Transcript: ENSMUST00000162478
AA Change: Y525H

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: Y525H

DomainStartEndE-ValueType
low complexity region 120 136 N/A INTRINSIC
low complexity region 202 216 N/A INTRINSIC
low complexity region 228 244 N/A INTRINSIC
FN3 266 358 3.05e-6 SMART
FN3 371 452 3.42e-9 SMART
Pfam:fn3 468 540 1.9e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000162825
AA Change: Y480H
SMART Domains Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: Y480H

DomainStartEndE-ValueType
low complexity region 76 92 N/A INTRINSIC
low complexity region 158 172 N/A INTRINSIC
low complexity region 184 200 N/A INTRINSIC
FN3 222 314 3.05e-6 SMART
FN3 327 408 3.42e-9 SMART
FN3 423 505 1.84e-9 SMART
FN3 520 603 1.06e-5 SMART
FN3 618 700 2.19e-7 SMART
FN3 715 794 5.48e-8 SMART
FN3 820 893 2.28e-5 SMART
FN3 907 988 3.22e-5 SMART
FN3 1003 1083 5.63e0 SMART
transmembrane domain 1131 1153 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Males homozygous for an insertional mutation are sterile; females are fertile. In mutant males, spermatids form multinucleated syncytia and fail to mature, while Sertoli cells exhibit abnormal cytoplasmic vacuoles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Gm4922 T C 10: 18,659,795 (GRCm39) Q309R probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Il1b C T 2: 129,211,649 (GRCm39) E24K probably damaging Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Peli2 G A 14: 48,493,491 (GRCm39) V238I probably benign Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Setd7 A T 3: 51,440,388 (GRCm39) probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Tpx2 G T 2: 152,726,155 (GRCm39) Q373H probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown Het
Other mutations in Fndc3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Fndc3a APN 14 72,796,797 (GRCm39) splice site probably benign
IGL01120:Fndc3a APN 14 72,794,102 (GRCm39) missense probably benign 0.05
IGL01577:Fndc3a APN 14 72,827,298 (GRCm39) missense probably damaging 0.99
IGL01965:Fndc3a APN 14 72,777,842 (GRCm39) missense probably benign 0.09
IGL01992:Fndc3a APN 14 72,811,996 (GRCm39) missense probably benign 0.25
IGL02244:Fndc3a APN 14 72,793,807 (GRCm39) splice site probably benign
IGL02639:Fndc3a APN 14 72,811,797 (GRCm39) missense probably benign 0.08
IGL03076:Fndc3a APN 14 72,793,908 (GRCm39) missense possibly damaging 0.82
IGL03096:Fndc3a APN 14 72,836,559 (GRCm39) missense probably damaging 1.00
PIT4677001:Fndc3a UTSW 14 72,812,035 (GRCm39) missense probably benign 0.02
R0112:Fndc3a UTSW 14 72,777,935 (GRCm39) splice site probably benign
R0379:Fndc3a UTSW 14 72,794,049 (GRCm39) missense probably damaging 1.00
R0381:Fndc3a UTSW 14 72,794,067 (GRCm39) missense probably benign 0.05
R0544:Fndc3a UTSW 14 72,795,062 (GRCm39) splice site probably benign
R1079:Fndc3a UTSW 14 72,827,247 (GRCm39) missense possibly damaging 0.81
R1299:Fndc3a UTSW 14 72,803,638 (GRCm39) splice site probably benign
R1424:Fndc3a UTSW 14 72,811,811 (GRCm39) missense probably damaging 1.00
R1453:Fndc3a UTSW 14 72,777,768 (GRCm39) nonsense probably null
R1478:Fndc3a UTSW 14 72,795,072 (GRCm39) critical splice donor site probably null
R1573:Fndc3a UTSW 14 72,806,384 (GRCm39) missense probably damaging 0.98
R1574:Fndc3a UTSW 14 72,793,997 (GRCm39) missense probably damaging 1.00
R1574:Fndc3a UTSW 14 72,793,997 (GRCm39) missense probably damaging 1.00
R1743:Fndc3a UTSW 14 72,889,521 (GRCm39) missense probably damaging 1.00
R1852:Fndc3a UTSW 14 72,794,283 (GRCm39) missense probably damaging 0.96
R2097:Fndc3a UTSW 14 72,811,791 (GRCm39) critical splice donor site probably null
R2396:Fndc3a UTSW 14 72,921,123 (GRCm39) missense possibly damaging 0.92
R2512:Fndc3a UTSW 14 72,793,715 (GRCm39) missense probably benign 0.00
R3722:Fndc3a UTSW 14 72,777,648 (GRCm39) missense probably benign 0.39
R5470:Fndc3a UTSW 14 72,812,008 (GRCm39) missense possibly damaging 0.83
R5757:Fndc3a UTSW 14 72,794,025 (GRCm39) missense probably benign
R5931:Fndc3a UTSW 14 72,806,307 (GRCm39) missense probably benign
R6188:Fndc3a UTSW 14 72,827,401 (GRCm39) missense probably damaging 0.99
R6297:Fndc3a UTSW 14 72,800,980 (GRCm39) missense probably damaging 0.98
R6638:Fndc3a UTSW 14 72,796,688 (GRCm39) nonsense probably null
R7221:Fndc3a UTSW 14 72,793,597 (GRCm39) missense probably benign
R7571:Fndc3a UTSW 14 72,827,336 (GRCm39) missense probably damaging 0.99
R7677:Fndc3a UTSW 14 72,804,854 (GRCm39) missense probably benign
R7744:Fndc3a UTSW 14 72,799,156 (GRCm39) missense possibly damaging 0.95
R7849:Fndc3a UTSW 14 72,802,100 (GRCm39) missense probably benign 0.01
R8027:Fndc3a UTSW 14 72,790,983 (GRCm39) missense probably benign 0.04
R8152:Fndc3a UTSW 14 72,811,820 (GRCm39) missense probably damaging 1.00
R8225:Fndc3a UTSW 14 72,795,117 (GRCm39) missense probably benign 0.00
R8295:Fndc3a UTSW 14 72,789,959 (GRCm39) missense probably benign 0.03
R8799:Fndc3a UTSW 14 72,793,955 (GRCm39) missense probably benign 0.00
R8955:Fndc3a UTSW 14 72,794,410 (GRCm39) missense probably benign
R9019:Fndc3a UTSW 14 72,811,840 (GRCm39) missense probably benign 0.01
R9120:Fndc3a UTSW 14 72,802,133 (GRCm39) missense probably benign
R9155:Fndc3a UTSW 14 72,921,162 (GRCm39) missense possibly damaging 0.50
R9281:Fndc3a UTSW 14 72,799,097 (GRCm39) missense probably benign 0.00
R9512:Fndc3a UTSW 14 72,827,424 (GRCm39) missense probably damaging 1.00
R9742:Fndc3a UTSW 14 72,777,693 (GRCm39) nonsense probably null
R9744:Fndc3a UTSW 14 72,777,693 (GRCm39) nonsense probably null
Z1176:Fndc3a UTSW 14 72,804,813 (GRCm39) missense probably damaging 0.98
Posted On 2014-02-04