Incidental Mutation 'R5540:Fndc3b'
ID 435861
Institutional Source Beutler Lab
Gene Symbol Fndc3b
Ensembl Gene ENSMUSG00000039286
Gene Name fibronectin type III domain containing 3B
Synonyms 1600019O04Rik, fad104
MMRRC Submission 043098-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5540 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 27470311-27765456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27555651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 301 (P301L)
Ref Sequence ENSEMBL: ENSMUSP00000141620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046157] [ENSMUST00000193779] [ENSMUST00000195008]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046157
AA Change: P301L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: P301L

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 224 246 N/A INTRINSIC
FN3 279 368 6.29e-8 SMART
FN3 382 463 8.31e-8 SMART
FN3 478 560 3.15e-8 SMART
FN3 575 659 4.28e-10 SMART
FN3 674 755 2.14e-10 SMART
FN3 770 849 1.98e-5 SMART
FN3 872 947 1.31e-5 SMART
FN3 961 1042 2.31e-6 SMART
FN3 1057 1137 1.2e-4 SMART
low complexity region 1165 1176 N/A INTRINSIC
transmembrane domain 1182 1204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191684
Predicted Effect unknown
Transcript: ENSMUST00000193779
AA Change: P97L
SMART Domains Protein: ENSMUSP00000141888
Gene: ENSMUSG00000039286
AA Change: P97L

DomainStartEndE-ValueType
PDB:1WK0|A 67 117 2e-6 PDB
Blast:FN3 75 119 2e-25 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000195008
AA Change: P301L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: P301L

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 224 246 N/A INTRINSIC
FN3 279 368 6.29e-8 SMART
FN3 382 463 8.31e-8 SMART
FN3 478 560 3.15e-8 SMART
FN3 575 659 4.28e-10 SMART
FN3 674 755 2.14e-10 SMART
FN3 770 849 1.98e-5 SMART
FN3 872 947 1.31e-5 SMART
FN3 961 1042 2.31e-6 SMART
FN3 1057 1137 1.2e-4 SMART
low complexity region 1165 1176 N/A INTRINSIC
transmembrane domain 1182 1204 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,012,371 (GRCm39) S15P probably damaging Het
Actl7a A T 4: 56,744,388 (GRCm39) H305L probably benign Het
Adam26b C A 8: 43,974,654 (GRCm39) C116F probably damaging Het
Adgrl2 A G 3: 148,543,198 (GRCm39) probably null Het
Akr1b10 A G 6: 34,371,047 (GRCm39) T238A probably damaging Het
Akr1c18 A G 13: 4,187,178 (GRCm39) V186A probably benign Het
Alpk3 G A 7: 80,745,184 (GRCm39) V1311M probably damaging Het
Aox1 A G 1: 58,143,569 (GRCm39) N1229S probably benign Het
Apobec3 T A 15: 79,782,120 (GRCm39) N43K probably benign Het
Arid1a A C 4: 133,407,765 (GRCm39) D2247E unknown Het
Asph A G 4: 9,635,906 (GRCm39) L77S probably damaging Het
Cd300ld T A 11: 114,878,231 (GRCm39) T94S probably damaging Het
Celf2 T C 2: 6,558,743 (GRCm39) T382A probably benign Het
Cfap54 C T 10: 92,808,470 (GRCm39) A1402T possibly damaging Het
Chrnb1 A T 11: 69,686,476 (GRCm39) V48E probably benign Het
Col6a5 T A 9: 105,739,975 (GRCm39) E2548V probably benign Het
Crebrf A G 17: 26,961,071 (GRCm39) D56G possibly damaging Het
Dctn5 A G 7: 121,734,275 (GRCm39) T40A probably benign Het
Dmxl2 A T 9: 54,301,141 (GRCm39) N2323K probably benign Het
Dync1h1 A G 12: 110,627,384 (GRCm39) Q4021R probably benign Het
Dyrk1a T G 16: 94,486,202 (GRCm39) probably null Het
Ephb3 T A 16: 21,039,610 (GRCm39) F454Y probably damaging Het
Fbxo38 A G 18: 62,647,864 (GRCm39) probably null Het
Flg T C 3: 93,184,923 (GRCm39) F15S probably damaging Het
Fpr-rs7 C T 17: 20,334,356 (GRCm39) G45R probably damaging Het
Garin3 A G 11: 46,295,715 (GRCm39) N29S probably damaging Het
Gfi1 T A 5: 107,867,991 (GRCm39) T360S probably damaging Het
Grik4 T C 9: 42,432,243 (GRCm39) H918R probably damaging Het
Hpx A G 7: 105,241,119 (GRCm39) S385P possibly damaging Het
Kdm5b A G 1: 134,558,979 (GRCm39) D1501G probably damaging Het
Kif20b A T 19: 34,915,860 (GRCm39) M546L probably benign Het
Map3k9 G T 12: 81,819,587 (GRCm39) N222K probably damaging Het
Me1 A G 9: 86,561,926 (GRCm39) L53P possibly damaging Het
Mis18bp1 T C 12: 65,195,520 (GRCm39) E748G possibly damaging Het
Morc3 T A 16: 93,644,268 (GRCm39) N186K probably benign Het
Mtor A G 4: 148,539,165 (GRCm39) T221A probably benign Het
Muc6 A G 7: 141,235,850 (GRCm39) probably null Het
Myh8 C A 11: 67,177,266 (GRCm39) T444N probably benign Het
Myo7b A G 18: 32,140,143 (GRCm39) Y216H probably damaging Het
Myom1 G A 17: 71,416,782 (GRCm39) V1382M probably damaging Het
Nbeal2 A T 9: 110,460,801 (GRCm39) Y1718N probably damaging Het
Npc1l1 A G 11: 6,164,546 (GRCm39) S1168P probably damaging Het
Or4c58 A G 2: 89,675,011 (GRCm39) F102S probably damaging Het
Or4d2 T A 11: 87,784,511 (GRCm39) K80* probably null Het
Or51f5 C T 7: 102,424,136 (GRCm39) A135V probably benign Het
Or5an9 T A 19: 12,187,824 (GRCm39) I298N probably damaging Het
Or6c8b G T 10: 128,882,364 (GRCm39) D189E probably damaging Het
Pcdha4 C A 18: 37,087,890 (GRCm39) A691E probably benign Het
Pde6a T G 18: 61,364,438 (GRCm39) F165V probably damaging Het
Ptpn14 A T 1: 189,578,561 (GRCm39) M340L probably benign Het
Rnasel G T 1: 153,630,890 (GRCm39) E469* probably null Het
Rsph3a T G 17: 8,164,790 (GRCm39) L50R probably benign Het
Rusc2 A G 4: 43,423,975 (GRCm39) Y1043C probably damaging Het
Serpinb6b A T 13: 33,161,541 (GRCm39) K86* probably null Het
Serpine1 T C 5: 137,092,063 (GRCm39) T392A probably benign Het
Shcbp1 A T 8: 4,794,529 (GRCm39) D421E probably damaging Het
Slc24a1 A G 9: 64,855,863 (GRCm39) V348A unknown Het
Slc26a7 A G 4: 14,506,621 (GRCm39) F605L probably benign Het
Slc66a1 A T 4: 139,027,655 (GRCm39) L229Q probably damaging Het
Spag17 A C 3: 99,963,588 (GRCm39) E1102A possibly damaging Het
Stab2 A G 10: 86,683,989 (GRCm39) V2390A probably benign Het
Stk11 A G 10: 79,961,883 (GRCm39) I35V probably benign Het
Stk24 T C 14: 121,531,693 (GRCm39) D321G possibly damaging Het
Tbx4 A T 11: 85,801,994 (GRCm39) N209I possibly damaging Het
Tmem225 T C 9: 40,060,681 (GRCm39) L80P probably damaging Het
Tnfrsf4 C T 4: 156,098,380 (GRCm39) T17I probably benign Het
Traf3ip1 G A 1: 91,429,037 (GRCm39) R268Q probably benign Het
Trhde T A 10: 114,636,497 (GRCm39) I237F probably benign Het
Ugt2a1 A T 5: 87,633,915 (GRCm39) W231R probably damaging Het
Vash1 ACTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGC 12: 86,726,831 (GRCm39) probably benign Het
Vps16 T A 2: 130,284,305 (GRCm39) D685E probably benign Het
Washc4 A G 10: 83,409,657 (GRCm39) D602G probably damaging Het
Wdr59 A G 8: 112,211,816 (GRCm39) L377P possibly damaging Het
Wdr81 T C 11: 75,339,896 (GRCm39) E1364G probably damaging Het
Other mutations in Fndc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fndc3b APN 3 27,592,161 (GRCm39) missense probably benign 0.40
IGL00848:Fndc3b APN 3 27,505,658 (GRCm39) missense probably damaging 1.00
IGL01099:Fndc3b APN 3 27,517,966 (GRCm39) missense probably benign 0.10
IGL01459:Fndc3b APN 3 27,515,889 (GRCm39) missense probably benign 0.11
IGL01583:Fndc3b APN 3 27,483,144 (GRCm39) missense probably damaging 1.00
IGL01736:Fndc3b APN 3 27,521,552 (GRCm39) missense probably damaging 1.00
IGL02154:Fndc3b APN 3 27,592,266 (GRCm39) missense probably damaging 0.99
IGL02377:Fndc3b APN 3 27,674,801 (GRCm39) missense probably damaging 1.00
IGL02470:Fndc3b APN 3 27,515,869 (GRCm39) missense probably damaging 1.00
IGL02508:Fndc3b APN 3 27,512,900 (GRCm39) missense probably damaging 1.00
IGL02834:Fndc3b APN 3 27,562,652 (GRCm39) missense probably damaging 1.00
IGL02974:Fndc3b APN 3 27,542,425 (GRCm39) missense probably damaging 1.00
IGL02999:Fndc3b APN 3 27,592,388 (GRCm39) missense probably damaging 1.00
IGL03083:Fndc3b APN 3 27,521,576 (GRCm39) missense probably benign 0.10
R0040:Fndc3b UTSW 3 27,610,266 (GRCm39) splice site probably null
R0040:Fndc3b UTSW 3 27,610,266 (GRCm39) splice site probably null
R0101:Fndc3b UTSW 3 27,512,957 (GRCm39) missense probably damaging 1.00
R0279:Fndc3b UTSW 3 27,511,155 (GRCm39) missense probably benign 0.30
R0281:Fndc3b UTSW 3 27,511,155 (GRCm39) missense probably benign 0.30
R0325:Fndc3b UTSW 3 27,521,579 (GRCm39) missense probably damaging 1.00
R0398:Fndc3b UTSW 3 27,515,928 (GRCm39) missense probably benign 0.19
R1334:Fndc3b UTSW 3 27,513,000 (GRCm39) missense probably damaging 1.00
R1464:Fndc3b UTSW 3 27,494,334 (GRCm39) splice site probably benign
R1961:Fndc3b UTSW 3 27,510,600 (GRCm39) nonsense probably null
R1993:Fndc3b UTSW 3 27,473,549 (GRCm39) missense probably benign
R2087:Fndc3b UTSW 3 27,505,703 (GRCm39) missense probably benign 0.00
R2113:Fndc3b UTSW 3 27,697,185 (GRCm39) missense probably damaging 1.00
R2258:Fndc3b UTSW 3 27,494,309 (GRCm39) missense possibly damaging 0.93
R2437:Fndc3b UTSW 3 27,505,481 (GRCm39) missense probably damaging 0.99
R2930:Fndc3b UTSW 3 27,524,435 (GRCm39) missense probably benign
R2997:Fndc3b UTSW 3 27,523,021 (GRCm39) missense probably benign 0.00
R3151:Fndc3b UTSW 3 27,473,652 (GRCm39) missense possibly damaging 0.93
R3782:Fndc3b UTSW 3 27,514,135 (GRCm39) missense possibly damaging 0.81
R4255:Fndc3b UTSW 3 27,555,556 (GRCm39) missense possibly damaging 0.77
R4628:Fndc3b UTSW 3 27,610,277 (GRCm39) missense probably benign 0.19
R4747:Fndc3b UTSW 3 27,483,114 (GRCm39) missense probably damaging 0.98
R4849:Fndc3b UTSW 3 27,514,097 (GRCm39) missense probably damaging 1.00
R5185:Fndc3b UTSW 3 27,511,219 (GRCm39) missense probably benign 0.14
R5291:Fndc3b UTSW 3 27,697,144 (GRCm39) missense probably benign 0.39
R5392:Fndc3b UTSW 3 27,519,936 (GRCm39) nonsense probably null
R5554:Fndc3b UTSW 3 27,697,162 (GRCm39) missense possibly damaging 0.69
R5635:Fndc3b UTSW 3 27,596,080 (GRCm39) missense probably damaging 1.00
R5639:Fndc3b UTSW 3 27,480,302 (GRCm39) missense probably damaging 0.98
R5678:Fndc3b UTSW 3 27,483,172 (GRCm39) missense probably benign
R5732:Fndc3b UTSW 3 27,515,922 (GRCm39) missense probably damaging 1.00
R5880:Fndc3b UTSW 3 27,483,052 (GRCm39) missense probably damaging 1.00
R6539:Fndc3b UTSW 3 27,592,206 (GRCm39) missense probably benign 0.22
R7038:Fndc3b UTSW 3 27,555,618 (GRCm39) missense probably benign 0.23
R7102:Fndc3b UTSW 3 27,524,383 (GRCm39) missense possibly damaging 0.73
R7203:Fndc3b UTSW 3 27,510,634 (GRCm39) missense probably benign 0.00
R7472:Fndc3b UTSW 3 27,515,893 (GRCm39) missense probably benign 0.00
R7796:Fndc3b UTSW 3 27,515,892 (GRCm39) missense probably benign 0.00
R7861:Fndc3b UTSW 3 27,523,148 (GRCm39) missense possibly damaging 0.62
R8105:Fndc3b UTSW 3 27,524,374 (GRCm39) missense probably benign 0.01
R8119:Fndc3b UTSW 3 27,505,493 (GRCm39) missense probably benign 0.01
R8348:Fndc3b UTSW 3 27,494,144 (GRCm39) missense probably benign
R8677:Fndc3b UTSW 3 27,511,176 (GRCm39) missense probably benign 0.32
R8929:Fndc3b UTSW 3 27,596,253 (GRCm39) missense probably damaging 1.00
R8943:Fndc3b UTSW 3 27,555,329 (GRCm39) intron probably benign
R9102:Fndc3b UTSW 3 27,523,014 (GRCm39) critical splice donor site probably null
R9211:Fndc3b UTSW 3 27,523,086 (GRCm39) missense probably damaging 1.00
R9224:Fndc3b UTSW 3 27,524,450 (GRCm39) missense possibly damaging 0.47
R9225:Fndc3b UTSW 3 27,510,680 (GRCm39) nonsense probably null
R9358:Fndc3b UTSW 3 27,505,556 (GRCm39) missense possibly damaging 0.79
R9600:Fndc3b UTSW 3 27,552,941 (GRCm39) missense probably damaging 1.00
X0028:Fndc3b UTSW 3 27,505,583 (GRCm39) missense possibly damaging 0.72
Z1088:Fndc3b UTSW 3 27,519,957 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCCCTGTGATTACCAATGTTTAAG -3'
(R):5'- AGCTGGTGTTACCTTCATGAG -3'

Sequencing Primer
(F):5'- GAAAATTTGCATCATTTGAGTTTCCC -3'
(R):5'- GCTGGTGTTACCTTCATGAGATAAC -3'
Posted On 2016-10-24