Incidental Mutation 'R5889:Fndc8'
ID 456235
Institutional Source Beutler Lab
Gene Symbol Fndc8
Ensembl Gene ENSMUSG00000018844
Gene Name fibronectin type III domain containing 8
Synonyms 4930466G16Rik
MMRRC Submission 044090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5889 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 82782971-82791563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82789555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 238 (T238S)
Ref Sequence ENSEMBL: ENSMUSP00000018988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018988] [ENSMUST00000103213]
AlphaFold Q9D2H8
Predicted Effect probably damaging
Transcript: ENSMUST00000018988
AA Change: T238S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844
AA Change: T238S

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 0.5654 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.3%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,461 (GRCm39) E297G probably damaging Het
Astn1 C T 1: 158,427,950 (GRCm39) P707L possibly damaging Het
Cep290 T C 10: 100,334,936 (GRCm39) S319P possibly damaging Het
Chrna4 A C 2: 180,670,451 (GRCm39) L435W probably damaging Het
Cilp C A 9: 65,187,625 (GRCm39) A1240D possibly damaging Het
Col17a1 A G 19: 47,637,511 (GRCm39) F1249S possibly damaging Het
Creb3l3 T C 10: 80,928,367 (GRCm39) probably benign Het
Cyp4f40 C A 17: 32,894,731 (GRCm39) T432N probably benign Het
Dsg1c T G 18: 20,416,658 (GRCm39) I853R possibly damaging Het
Ebna1bp2 T A 4: 118,478,620 (GRCm39) D34E probably damaging Het
Edc4 C T 8: 106,614,654 (GRCm39) T112I possibly damaging Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Exoc6 A G 19: 37,570,693 (GRCm39) H291R probably damaging Het
Fbln5 G T 12: 101,731,485 (GRCm39) N236K probably damaging Het
Frem3 T C 8: 81,340,917 (GRCm39) V1070A probably damaging Het
Gabra4 A T 5: 71,729,234 (GRCm39) N515K possibly damaging Het
Gemin5 A G 11: 58,013,181 (GRCm39) V1422A possibly damaging Het
Gm10118 A G 10: 63,762,890 (GRCm39) probably benign Het
Grm5 A G 7: 87,252,281 (GRCm39) D177G probably damaging Het
Gtf2h4 G A 17: 35,981,792 (GRCm39) P147L possibly damaging Het
Hgsnat T C 8: 26,453,395 (GRCm39) D265G probably damaging Het
Hsd17b4 T A 18: 50,310,276 (GRCm39) L513Q probably damaging Het
Hsd17b7 A T 1: 169,783,487 (GRCm39) M307K probably benign Het
Hspa5 T C 2: 34,664,629 (GRCm39) V361A probably damaging Het
Iqgap2 A G 13: 95,768,550 (GRCm39) V1450A probably benign Het
Itpr3 A G 17: 27,334,039 (GRCm39) E2037G probably damaging Het
Itprid2 T A 2: 79,488,072 (GRCm39) D718E probably damaging Het
Lama5 T C 2: 179,835,467 (GRCm39) probably benign Het
Manba G T 3: 135,230,359 (GRCm39) G311* probably null Het
Mettl24 T A 10: 40,622,486 (GRCm39) V236E probably benign Het
Myh3 A G 11: 66,977,201 (GRCm39) D310G probably damaging Het
Ncoa4 A T 14: 31,888,616 (GRCm39) probably benign Het
Nop56 G T 2: 130,117,902 (GRCm39) R126L probably damaging Het
Nos3 C A 5: 24,573,775 (GRCm39) probably benign Het
Or13c7b T C 4: 43,820,492 (GRCm39) M290V possibly damaging Het
Pcdhga3 T A 18: 37,809,662 (GRCm39) V705D probably damaging Het
Prom2 C T 2: 127,371,331 (GRCm39) A776T possibly damaging Het
Prss48 A G 3: 85,905,492 (GRCm39) I127T probably damaging Het
Rtca T C 3: 116,293,232 (GRCm39) Y193C possibly damaging Het
Samd9l T C 6: 3,376,460 (GRCm39) Y267C probably damaging Het
Scube3 A G 17: 28,379,887 (GRCm39) R272G possibly damaging Het
Sprr1a G T 3: 92,391,951 (GRCm39) H17N probably benign Het
Stard3 G C 11: 98,266,361 (GRCm39) Q120H probably benign Het
Supt6 A G 11: 78,103,574 (GRCm39) I1377T probably damaging Het
Svop A T 5: 114,203,692 (GRCm39) S30T probably benign Het
Syne2 T A 12: 76,119,026 (GRCm39) L5882* probably null Het
Tanc2 G T 11: 105,812,633 (GRCm39) R1359L probably benign Het
Tmc7 A C 7: 118,165,549 (GRCm39) L55R probably benign Het
Trappc11 G A 8: 47,972,613 (GRCm39) A320V probably benign Het
Ttll8 G C 15: 88,818,142 (GRCm39) P178A probably damaging Het
Ttn T C 2: 76,560,993 (GRCm39) E20809G probably damaging Het
Tubb2a A T 13: 34,259,451 (GRCm39) V113E possibly damaging Het
Ube2d1 A T 10: 71,095,699 (GRCm39) probably benign Het
Usp48 T C 4: 137,343,723 (GRCm39) V452A probably benign Het
Vldlr T A 19: 27,217,064 (GRCm39) I39N probably damaging Het
Wbp1l C T 19: 46,642,619 (GRCm39) R191* probably null Het
Zyg11b C T 4: 108,094,577 (GRCm39) W669* probably null 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
R5960:Fndc8 UTSW 11 82,788,398 (GRCm39) missense probably benign 0.15
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'- GCTATTGTGATGCCTCCCAAC -3'
(R):5'- CCAATGGTTCTGACCTTCAGC -3'

Sequencing Primer
(F):5'- CACATATACCATGGGCTAGGC -3'
(R):5'- GACCTTCAGCTCGCTATCTCTATG -3'
Posted On 2017-02-15