Incidental Mutation 'R5004:Fndc7'
ID 390034
Institutional Source Beutler Lab
Gene Symbol Fndc7
Ensembl Gene ENSMUSG00000045326
Gene Name fibronectin type III domain containing 7
Synonyms E230011A21Rik
MMRRC Submission 042597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5004 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108760994-108797324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 108790789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 79 (T79M)
Ref Sequence ENSEMBL: ENSMUSP00000136215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053065] [ENSMUST00000102620] [ENSMUST00000180063]
AlphaFold A2AED3
Predicted Effect probably damaging
Transcript: ENSMUST00000053065
AA Change: T79M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: T79M

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
Blast:FN3 201 274 9e-44 BLAST
FN3 283 360 1.07e-1 SMART
FN3 457 530 5.1e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102620
AA Change: T79M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: T79M

DomainStartEndE-ValueType
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
FN3 201 275 2.44e-5 SMART
Blast:FN3 287 360 1e-43 BLAST
FN3 369 446 1.07e-1 SMART
FN3 543 616 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139137
SMART Domains Protein: ENSMUSP00000117562
Gene: ENSMUSG00000045326

DomainStartEndE-ValueType
Blast:FN3 1 123 3e-27 BLAST
SCOP:d1f6fb2 3 64 3e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000180063
AA Change: T79M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: T79M

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
FN3 201 275 2.44e-5 SMART
Blast:FN3 287 360 2e-43 BLAST
FN3 369 446 1.07e-1 SMART
FN3 543 616 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196867
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik A C 8: 13,605,927 (GRCm39) D189E possibly damaging Het
Abca5 C T 11: 110,170,202 (GRCm39) E1298K probably damaging Het
Actg1 C A 11: 120,238,986 (GRCm39) probably benign Het
Add2 A G 6: 86,073,728 (GRCm39) T206A probably benign Het
Alox12e A G 11: 70,212,330 (GRCm39) V116A probably benign Het
Ankrd27 T A 7: 35,307,800 (GRCm39) D346E probably damaging Het
Arfgap3 T A 15: 83,194,497 (GRCm39) S391C possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cars2 C T 8: 11,568,956 (GRCm39) probably null Het
Cav3 A G 6: 112,436,885 (GRCm39) K38R probably damaging Het
Ccdc159 G A 9: 21,844,241 (GRCm39) R101H probably damaging Het
Cops7b A G 1: 86,515,132 (GRCm39) probably benign Het
Cyp4a12b C T 4: 115,295,310 (GRCm39) T472I probably benign Het
Cyp4a32 T C 4: 115,458,238 (GRCm39) S23P probably damaging Het
Cyp4f13 T G 17: 33,144,760 (GRCm39) I275L probably benign Het
Dlgap1 T A 17: 71,025,222 (GRCm39) probably null Het
Dnajc12 A T 10: 63,222,486 (GRCm39) I4L probably benign Het
Ephb2 T A 4: 136,387,010 (GRCm39) D739V possibly damaging Het
Fam169a A G 13: 97,234,100 (GRCm39) Y124C probably damaging Het
Fbln5 T A 12: 101,727,080 (GRCm39) N303I probably damaging Het
Fdxr T C 11: 115,160,399 (GRCm39) E352G probably benign Het
Fhad1 T G 4: 141,729,910 (GRCm39) probably null Het
Fhod1 C T 8: 106,063,577 (GRCm39) probably benign Het
Fry A G 5: 150,357,069 (GRCm39) Q1872R probably benign Het
Gbx1 T C 5: 24,709,837 (GRCm39) H336R probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr15lg A T 14: 36,824,622 (GRCm39) C60S probably damaging Het
Hacl1 C A 14: 31,340,996 (GRCm39) C346F probably benign Het
Hectd4 C A 5: 121,466,262 (GRCm39) probably null Het
Hectd4 C T 5: 121,467,628 (GRCm39) P2526S possibly damaging Het
Il3ra A T 14: 14,355,381 (GRCm38) E289D probably benign Het
Itih4 T G 14: 30,614,629 (GRCm39) L497R probably damaging Het
Kcnh3 A T 15: 99,124,383 (GRCm39) K91* probably null Het
Kiz C G 2: 146,811,899 (GRCm39) D669E possibly damaging Het
Klhl30 T A 1: 91,287,046 (GRCm39) probably null Het
Kndc1 C A 7: 139,512,792 (GRCm39) C1514* probably null Het
Lipo2 A G 19: 33,699,076 (GRCm39) probably null Het
Macf1 T C 4: 123,279,268 (GRCm39) D5921G probably damaging Het
Mau2 A G 8: 70,478,537 (GRCm39) Y394H probably damaging Het
Mctp1 T A 13: 76,789,923 (GRCm39) S50R possibly damaging Het
Mllt10 T C 2: 18,175,079 (GRCm39) Y3H probably damaging Het
Mon1b T C 8: 114,365,859 (GRCm39) S396P probably damaging Het
Mrgpra4 A C 7: 47,631,535 (GRCm39) L22R probably benign Het
Msln T G 17: 25,973,193 (GRCm39) M1L possibly damaging Het
Myh15 T A 16: 48,952,411 (GRCm39) I827N probably damaging Het
Myh7 T C 14: 55,209,140 (GRCm39) D1866G probably damaging Het
Myo5b T G 18: 74,877,844 (GRCm39) probably null Het
Nlrc5 T G 8: 95,247,844 (GRCm39) probably benign Het
Nup210l A T 3: 90,087,472 (GRCm39) R1082* probably null Het
Or12k7 A G 2: 36,958,422 (GRCm39) Y35C probably damaging Het
Or4f4b G A 2: 111,314,005 (GRCm39) V105I possibly damaging Het
Or5p63 T A 7: 107,811,323 (GRCm39) K138* probably null Het
Or7e169 T C 9: 19,757,398 (GRCm39) I172M probably benign Het
Pi4ka A T 16: 17,195,033 (GRCm39) C122S probably damaging Het
Pkd2l1 G T 19: 44,138,016 (GRCm39) A690E probably benign Het
Pramel22 T C 4: 143,380,706 (GRCm39) Q439R probably benign Het
Prickle2 A T 6: 92,393,736 (GRCm39) D312E probably benign Het
Prrc2a T A 17: 35,368,974 (GRCm39) N2021Y probably benign Het
Prss3 T C 6: 41,350,836 (GRCm39) Y218C probably damaging Het
Psg20 T C 7: 18,414,837 (GRCm39) T350A probably damaging Het
Ptprg A T 14: 12,220,667 (GRCm38) I1235F probably damaging Het
Ptprk T A 10: 28,462,059 (GRCm39) D1181E possibly damaging Het
Rcc2 T A 4: 140,444,977 (GRCm39) S415T possibly damaging Het
Ripor1 CAA CA 8: 106,345,452 (GRCm39) probably null Het
Rnf31 T C 14: 55,829,639 (GRCm39) L68P probably damaging Het
Rsph6a A T 7: 18,791,665 (GRCm39) E278V possibly damaging Het
Rubcnl C T 14: 75,269,617 (GRCm39) Q92* probably null Het
Scfd1 A G 12: 51,491,777 (GRCm39) R580G probably benign Het
Sec31a A T 5: 100,516,192 (GRCm39) N967K probably damaging Het
Sema4b C A 7: 79,866,093 (GRCm39) T154N probably benign Het
Septin14 T A 5: 129,770,040 (GRCm39) I219F possibly damaging Het
Serpinb9c A T 13: 33,334,338 (GRCm39) S235T probably benign Het
Setd4 G T 16: 93,388,133 (GRCm39) H118N probably benign Het
Siglec1 C T 2: 130,911,789 (GRCm39) V1697M probably benign Het
Siglec1 A T 2: 130,915,331 (GRCm39) L1420Q possibly damaging Het
Soat2 T A 15: 102,069,546 (GRCm39) H402Q probably damaging Het
Sp3 A T 2: 72,768,633 (GRCm39) V666D probably benign Het
Spef2 T G 15: 9,578,413 (GRCm39) S1704R probably benign Het
Spidr A T 16: 15,936,806 (GRCm39) W100R possibly damaging Het
Steap1 G T 5: 5,792,829 (GRCm39) Y27* probably null Het
Svep1 G T 4: 58,087,751 (GRCm39) T1776K probably benign Het
Tdpoz1 T A 3: 93,578,440 (GRCm39) T115S probably benign Het
Tet2 A T 3: 133,193,140 (GRCm39) H431Q possibly damaging Het
Tnrc6c T G 11: 117,611,872 (GRCm39) V170G probably benign Het
Tom1 T C 8: 75,778,630 (GRCm39) L99P probably damaging Het
Trim11 C A 11: 58,872,164 (GRCm39) probably benign Het
Trio T C 15: 27,755,264 (GRCm39) K955R probably damaging Het
Tubd1 C T 11: 86,452,146 (GRCm39) T371I probably damaging Het
Usp17lb C T 7: 104,490,884 (GRCm39) M13I probably benign Het
Usp29 A G 7: 6,965,158 (GRCm39) M334V probably benign Het
Usp34 A G 11: 23,414,586 (GRCm39) Y2843C probably damaging Het
Utp20 A T 10: 88,584,135 (GRCm39) I2674N probably damaging Het
Vmn2r14 T G 5: 109,368,246 (GRCm39) T249P probably benign Het
Vmn2r43 A T 7: 8,247,848 (GRCm39) F772I probably damaging Het
Vmn2r51 T A 7: 9,821,932 (GRCm39) E584D probably benign Het
Zbtb22 G T 17: 34,136,217 (GRCm39) A121S probably benign Het
Zfp273 A T 13: 67,973,673 (GRCm39) H267L probably damaging Het
Zkscan2 C T 7: 123,089,267 (GRCm39) V335M probably damaging Het
Other mutations in Fndc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02077:Fndc7 APN 3 108,790,784 (GRCm39) missense probably benign 0.17
IGL02823:Fndc7 APN 3 108,776,487 (GRCm39) missense probably damaging 1.00
IGL02896:Fndc7 APN 3 108,770,247 (GRCm39) missense probably benign 0.04
IGL03196:Fndc7 APN 3 108,790,760 (GRCm39) missense probably damaging 1.00
IGL03343:Fndc7 APN 3 108,774,624 (GRCm39) missense probably damaging 1.00
IGL03377:Fndc7 APN 3 108,783,848 (GRCm39) missense probably benign 0.12
R0240:Fndc7 UTSW 3 108,766,235 (GRCm39) splice site probably benign
R0324:Fndc7 UTSW 3 108,784,015 (GRCm39) splice site probably null
R0457:Fndc7 UTSW 3 108,783,861 (GRCm39) missense probably benign 0.02
R0630:Fndc7 UTSW 3 108,783,931 (GRCm39) missense probably damaging 1.00
R0891:Fndc7 UTSW 3 108,777,904 (GRCm39) missense possibly damaging 0.54
R1752:Fndc7 UTSW 3 108,776,646 (GRCm39) missense probably benign 0.14
R1772:Fndc7 UTSW 3 108,777,850 (GRCm39) missense probably damaging 1.00
R1923:Fndc7 UTSW 3 108,784,003 (GRCm39) missense probably benign 0.00
R1957:Fndc7 UTSW 3 108,790,825 (GRCm39) missense probably damaging 0.98
R3801:Fndc7 UTSW 3 108,776,464 (GRCm39) missense possibly damaging 0.95
R4592:Fndc7 UTSW 3 108,766,218 (GRCm39) missense probably damaging 1.00
R4650:Fndc7 UTSW 3 108,770,135 (GRCm39) missense probably benign 0.15
R4652:Fndc7 UTSW 3 108,770,135 (GRCm39) missense probably benign 0.15
R4791:Fndc7 UTSW 3 108,783,975 (GRCm39) missense probably benign 0.00
R4933:Fndc7 UTSW 3 108,783,986 (GRCm39) missense probably benign 0.01
R5042:Fndc7 UTSW 3 108,770,102 (GRCm39) missense probably damaging 1.00
R5054:Fndc7 UTSW 3 108,788,663 (GRCm39) missense probably damaging 0.97
R5175:Fndc7 UTSW 3 108,776,482 (GRCm39) missense probably benign 0.04
R5325:Fndc7 UTSW 3 108,790,765 (GRCm39) missense probably damaging 1.00
R5571:Fndc7 UTSW 3 108,763,724 (GRCm39) missense possibly damaging 0.68
R5638:Fndc7 UTSW 3 108,770,208 (GRCm39) missense possibly damaging 0.69
R5846:Fndc7 UTSW 3 108,788,707 (GRCm39) missense probably damaging 1.00
R6488:Fndc7 UTSW 3 108,777,891 (GRCm39) missense probably damaging 0.99
R6737:Fndc7 UTSW 3 108,779,594 (GRCm39) missense probably damaging 1.00
R6993:Fndc7 UTSW 3 108,783,907 (GRCm39) missense probably benign 0.00
R6998:Fndc7 UTSW 3 108,783,964 (GRCm39) missense probably benign 0.02
R6999:Fndc7 UTSW 3 108,783,964 (GRCm39) missense probably benign 0.02
R7000:Fndc7 UTSW 3 108,783,964 (GRCm39) missense probably benign 0.02
R7001:Fndc7 UTSW 3 108,783,964 (GRCm39) missense probably benign 0.02
R7181:Fndc7 UTSW 3 108,788,640 (GRCm39) critical splice donor site probably null
R7324:Fndc7 UTSW 3 108,779,537 (GRCm39) missense probably benign 0.06
R7425:Fndc7 UTSW 3 108,783,975 (GRCm39) missense probably benign 0.00
R7631:Fndc7 UTSW 3 108,776,568 (GRCm39) missense probably damaging 1.00
R7702:Fndc7 UTSW 3 108,770,129 (GRCm39) missense probably damaging 0.98
R7713:Fndc7 UTSW 3 108,777,979 (GRCm39) missense possibly damaging 0.90
R7909:Fndc7 UTSW 3 108,770,232 (GRCm39) missense probably benign 0.04
R7946:Fndc7 UTSW 3 108,779,452 (GRCm39) missense possibly damaging 0.78
R8023:Fndc7 UTSW 3 108,774,461 (GRCm39) missense probably damaging 1.00
R8694:Fndc7 UTSW 3 108,779,622 (GRCm39) nonsense probably null
R8708:Fndc7 UTSW 3 108,774,528 (GRCm39) missense probably benign 0.00
R9325:Fndc7 UTSW 3 108,790,834 (GRCm39) missense possibly damaging 0.55
R9608:Fndc7 UTSW 3 108,774,597 (GRCm39) missense probably damaging 1.00
Z1088:Fndc7 UTSW 3 108,790,816 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACCACACATTTGCAGTGC -3'
(R):5'- TGGCAAAAGATGTCATCCTTGTAGG -3'

Sequencing Primer
(F):5'- TGCAGTGCTGTTAAAAACTCATC -3'
(R):5'- GGATATCCTGGCTAACATACAACTTC -3'
Posted On 2016-06-06