Incidental Mutation 'R5960:Fndc8'
ID 471423
Institutional Source Beutler Lab
Gene Symbol Fndc8
Ensembl Gene ENSMUSG00000018844
Gene Name fibronectin type III domain containing 8
Synonyms 4930466G16Rik
MMRRC Submission 044147-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5960 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 82782971-82791563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82788398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 76 (D76G)
Ref Sequence ENSEMBL: ENSMUSP00000018988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018988] [ENSMUST00000103213]
AlphaFold Q9D2H8
Predicted Effect probably benign
Transcript: ENSMUST00000018988
AA Change: D76G

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844
AA Change: D76G

DomainStartEndE-ValueType
low complexity region 159 170 N/A INTRINSIC
FN3 176 264 9.48e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103213
SMART Domains Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:NLE 17 77 3.6e-15 PFAM
WD40 103 142 5.22e-12 SMART
WD40 145 184 1.48e-11 SMART
WD40 188 232 1.66e-5 SMART
WD40 235 273 3.11e-10 SMART
WD40 276 357 1.14e-3 SMART
WD40 361 400 8.81e-10 SMART
WD40 403 442 1.69e-11 SMART
WD40 445 484 9.44e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140318
Predicted Effect probably benign
Transcript: ENSMUST00000167196
Meta Mutation Damage Score 0.1465 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,528 (GRCm39) T30A possibly damaging Het
Adat1 T C 8: 112,709,233 (GRCm39) M197V probably benign Het
Alcam T C 16: 52,115,489 (GRCm39) T210A probably benign Het
Ankfy1 T A 11: 72,648,178 (GRCm39) S886R possibly damaging Het
Aopep G A 13: 63,388,087 (GRCm39) R22Q probably damaging Het
Atg2a T G 19: 6,304,390 (GRCm39) F1136V probably damaging Het
Birc6 A T 17: 74,835,760 (GRCm39) T72S probably damaging Het
Caskin1 A G 17: 24,717,869 (GRCm39) T219A probably benign Het
Catsperg1 A G 7: 28,884,208 (GRCm39) probably benign Het
Cdh12 A G 15: 21,492,562 (GRCm39) probably null Het
Cfap126 A G 1: 170,952,882 (GRCm39) D45G probably damaging Het
Ciz1 C A 2: 32,261,228 (GRCm39) Q356K possibly damaging Het
Ckmt1 T A 2: 121,194,058 (GRCm39) I407N probably damaging Het
Csmd1 C T 8: 16,121,430 (GRCm39) E1756K possibly damaging Het
Cwf19l2 A G 9: 3,411,404 (GRCm39) K94E probably benign Het
Cyth1 A G 11: 118,023,193 (GRCm39) probably benign Het
Ddx25 A G 9: 35,465,807 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock3 C A 9: 106,788,554 (GRCm39) G138* probably null Het
Fam20a G A 11: 109,566,795 (GRCm39) probably benign Het
Fanci A G 7: 79,093,510 (GRCm39) T1006A probably damaging Het
Fat1 T C 8: 45,486,405 (GRCm39) Y3320H probably damaging Het
Gm19965 T C 1: 116,749,201 (GRCm39) I294T possibly damaging Het
Gm9755 T G 8: 67,967,840 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,878,113 (GRCm39) V879A possibly damaging Het
Ifi209 A T 1: 173,466,382 (GRCm39) probably null Het
Itgb2l T C 16: 96,227,459 (GRCm39) H528R probably benign Het
Marf1 T C 16: 13,970,281 (GRCm39) Q146R probably damaging Het
Megf11 A G 9: 64,567,731 (GRCm39) T407A probably benign Het
Mtg1 T C 7: 139,726,906 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,402,724 (GRCm39) S1317A probably benign Het
Nhsl3 A G 4: 129,115,865 (GRCm39) V933A probably damaging Het
Nudt16 A T 9: 105,008,698 (GRCm39) C63S possibly damaging Het
Nup107 T C 10: 117,625,915 (GRCm39) I49V probably null Het
Or51a24 G T 7: 103,733,560 (GRCm39) N242K probably damaging Het
Or5m13 T A 2: 85,749,069 (GRCm39) S267T probably benign Het
Orc1 T C 4: 108,463,495 (GRCm39) S671P possibly damaging Het
Paox A G 7: 139,712,402 (GRCm39) D211G probably benign Het
Pck2 A G 14: 55,786,004 (GRCm39) T571A possibly damaging Het
Pigg A G 5: 108,484,160 (GRCm39) E469G probably benign Het
Pikfyve C A 1: 65,292,597 (GRCm39) Y1349* probably null Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Prpf40b G T 15: 99,212,785 (GRCm39) R627L probably damaging Het
Rasgrf1 A G 9: 89,903,437 (GRCm39) I1217V possibly damaging Het
Rbm26 A T 14: 105,387,751 (GRCm39) V457D probably damaging Het
Rex1bd C A 8: 70,959,156 (GRCm39) R49L probably null Het
Robo2 A T 16: 73,730,603 (GRCm39) L1003Q probably damaging Het
Sacs A G 14: 61,446,144 (GRCm39) D2730G probably benign Het
Setd6 T A 8: 96,442,827 (GRCm39) L88H probably damaging Het
Smim35 T C 9: 45,154,288 (GRCm39) Y50H probably damaging Het
Sncb A G 13: 54,910,795 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,225 (GRCm39) H985L probably benign Het
Spmap2 T G 10: 79,421,765 (GRCm39) K151T possibly damaging Het
Stard9 A G 2: 120,530,442 (GRCm39) E2233G probably benign Het
Susd2 C T 10: 75,475,770 (GRCm39) V410I probably damaging Het
Synm A G 7: 67,385,494 (GRCm39) S281P probably damaging Het
Syvn1 C T 19: 6,100,598 (GRCm39) R330C probably damaging Het
Tiam2 A T 17: 3,488,915 (GRCm39) D741V probably benign Het
Tph1 A G 7: 46,311,429 (GRCm39) probably null Het
Trav7-5 T A 14: 53,768,706 (GRCm39) H91Q probably benign Het
Tymp A T 15: 89,260,778 (GRCm39) probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Other mutations in Fndc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02392:Fndc8 APN 11 82,789,429 (GRCm39) missense probably damaging 1.00
R0066:Fndc8 UTSW 11 82,788,398 (GRCm39) missense probably benign 0.38
R0066:Fndc8 UTSW 11 82,788,398 (GRCm39) missense probably benign 0.38
R1827:Fndc8 UTSW 11 82,790,355 (GRCm39) missense probably damaging 0.97
R2179:Fndc8 UTSW 11 82,789,580 (GRCm39) missense probably damaging 1.00
R4504:Fndc8 UTSW 11 82,783,226 (GRCm39) missense probably benign 0.21
R5401:Fndc8 UTSW 11 82,788,676 (GRCm39) missense possibly damaging 0.80
R5889:Fndc8 UTSW 11 82,789,555 (GRCm39) missense probably damaging 0.99
R6793:Fndc8 UTSW 11 82,788,412 (GRCm39) missense probably damaging 1.00
R6798:Fndc8 UTSW 11 82,783,217 (GRCm39) missense probably benign
R7210:Fndc8 UTSW 11 82,788,692 (GRCm39) missense probably damaging 0.99
R7224:Fndc8 UTSW 11 82,783,151 (GRCm39) missense probably benign 0.05
R7341:Fndc8 UTSW 11 82,789,603 (GRCm39) missense possibly damaging 0.81
R7576:Fndc8 UTSW 11 82,788,400 (GRCm39) missense probably damaging 1.00
R8190:Fndc8 UTSW 11 82,788,686 (GRCm39) missense probably damaging 1.00
R9030:Fndc8 UTSW 11 82,789,522 (GRCm39) missense probably benign 0.03
R9399:Fndc8 UTSW 11 82,788,739 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGTCAGGCTCTGCTGCTG -3'
(R):5'- ATTTGGGACTTAGATGAACGGG -3'

Sequencing Primer
(F):5'- GCTGCTGCTGAGCTTGTCTC -3'
(R):5'- GCAGATGGCCAGATTATCCTTTTCTG -3'
Posted On 2017-03-31