Incidental Mutation 'IGL00900:Focad'
ID 27205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Focad
Ensembl Gene ENSMUSG00000038368
Gene Name focadhesin
Synonyms BC057079
Accession Numbers
Essential gene? Possibly essential (E-score: 0.539) question?
Stock # IGL00900
Quality Score
Status
Chromosome 4
Chromosomal Location 88012866-88329248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88047260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 86 (N86K)
Ref Sequence ENSEMBL: ENSMUSP00000124298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097992] [ENSMUST00000159342]
AlphaFold A2AKG8
Predicted Effect unknown
Transcript: ENSMUST00000097992
AA Change: N86K
SMART Domains Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: N86K

DomainStartEndE-ValueType
low complexity region 150 161 N/A INTRINSIC
low complexity region 194 203 N/A INTRINSIC
low complexity region 264 273 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
low complexity region 348 361 N/A INTRINSIC
Pfam:DUF3730 490 714 1.5e-71 PFAM
low complexity region 957 969 N/A INTRINSIC
low complexity region 1032 1047 N/A INTRINSIC
low complexity region 1200 1209 N/A INTRINSIC
Pfam:DUF3028 1210 1798 1.5e-291 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147527
Predicted Effect probably damaging
Transcript: ENSMUST00000159342
AA Change: N86K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: N86K

DomainStartEndE-ValueType
Pfam:DUF3730 20 250 5.8e-27 PFAM
low complexity region 264 273 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
low complexity region 348 361 N/A INTRINSIC
Pfam:DUF3730 403 633 2.8e-61 PFAM
low complexity region 871 883 N/A INTRINSIC
low complexity region 946 961 N/A INTRINSIC
low complexity region 1114 1123 N/A INTRINSIC
Pfam:DUF3028 1124 1712 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161058
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,361,383 (GRCm39) probably benign Het
Agap3 G A 5: 24,681,366 (GRCm39) probably benign Het
Angptl2 A T 2: 33,133,784 (GRCm39) M369L probably benign Het
Arhgef11 A G 3: 87,590,867 (GRCm39) D36G possibly damaging Het
Ccnt1 A G 15: 98,452,514 (GRCm39) V134A probably damaging Het
Ces1e T C 8: 93,944,245 (GRCm39) H191R probably damaging Het
Dhh A G 15: 98,796,101 (GRCm39) probably benign Het
Edil3 C A 13: 89,437,652 (GRCm39) H418N probably benign Het
Fam161b T C 12: 84,402,743 (GRCm39) I296V probably benign Het
Foxn1 C T 11: 78,262,109 (GRCm39) G87S probably benign Het
Glipr1l2 T C 10: 111,933,887 (GRCm39) Y220H probably benign Het
Hnrnpa1 A G 15: 103,152,166 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ipo11 T C 13: 106,983,952 (GRCm39) M797V possibly damaging Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Klhdc2 T A 12: 69,350,308 (GRCm39) F118I probably benign Het
Mtap T A 4: 89,090,594 (GRCm39) Y221* probably null Het
Myh2 T C 11: 67,070,210 (GRCm39) V414A probably damaging Het
Ncor2 A T 5: 125,102,848 (GRCm39) Y1999N probably damaging Het
Or5d39 A G 2: 87,979,604 (GRCm39) F253S possibly damaging Het
Oxsm A G 14: 16,242,023 (GRCm38) S249P probably damaging Het
Pabpc4l T A 3: 46,401,507 (GRCm39) I46F possibly damaging Het
Pcnx2 A G 8: 126,589,975 (GRCm39) probably benign Het
Rasal2 A G 1: 157,239,499 (GRCm39) S4P possibly damaging Het
Reln A G 5: 22,185,115 (GRCm39) V1534A probably damaging Het
Rnf138 T A 18: 21,154,017 (GRCm39) D174E possibly damaging Het
Sh3pxd2a T A 19: 47,302,594 (GRCm39) N162Y probably benign Het
Slc6a4 A T 11: 76,914,006 (GRCm39) T519S probably benign Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Trip12 A G 1: 84,702,485 (GRCm39) S1945P possibly damaging Het
Vmn1r232 A G 17: 21,134,394 (GRCm39) F69L probably benign Het
Zeb2 T C 2: 44,887,287 (GRCm39) D545G probably damaging Het
Other mutations in Focad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Focad APN 4 88,275,711 (GRCm39) missense unknown
IGL00562:Focad APN 4 88,267,046 (GRCm39) missense unknown
IGL00563:Focad APN 4 88,267,046 (GRCm39) missense unknown
IGL00984:Focad APN 4 88,263,022 (GRCm39) missense unknown
IGL01016:Focad APN 4 88,310,252 (GRCm39) missense possibly damaging 0.51
IGL01069:Focad APN 4 88,244,383 (GRCm39) missense unknown
IGL01305:Focad APN 4 88,311,784 (GRCm39) missense probably benign 0.32
IGL01409:Focad APN 4 88,260,542 (GRCm39) missense unknown
IGL01447:Focad APN 4 88,244,465 (GRCm39) missense unknown
IGL01521:Focad APN 4 88,328,927 (GRCm39) makesense probably null
IGL01672:Focad APN 4 88,278,827 (GRCm39) critical splice donor site probably null
IGL01739:Focad APN 4 88,289,043 (GRCm39) missense unknown
IGL02082:Focad APN 4 88,148,815 (GRCm39) nonsense probably null
IGL02139:Focad APN 4 88,047,291 (GRCm39) critical splice donor site probably null
IGL02381:Focad APN 4 88,192,327 (GRCm39) splice site probably benign
IGL02898:Focad APN 4 88,310,234 (GRCm39) missense probably benign 0.02
certitude UTSW 4 88,096,370 (GRCm39) missense probably damaging 1.00
impression UTSW 4 88,196,479 (GRCm39) missense unknown
Microscope UTSW 4 88,260,441 (GRCm39) missense unknown
Nuance UTSW 4 88,115,083 (GRCm39) intron probably benign
Objective UTSW 4 88,319,305 (GRCm39) nonsense probably null
ANU22:Focad UTSW 4 88,311,784 (GRCm39) missense probably benign 0.32
R0025:Focad UTSW 4 88,327,196 (GRCm39) missense probably benign 0.02
R0554:Focad UTSW 4 88,267,126 (GRCm39) missense unknown
R0617:Focad UTSW 4 88,039,525 (GRCm39) unclassified probably benign
R0688:Focad UTSW 4 88,192,450 (GRCm39) missense unknown
R0746:Focad UTSW 4 88,315,451 (GRCm39) missense possibly damaging 0.84
R0907:Focad UTSW 4 88,196,498 (GRCm39) critical splice donor site probably null
R1109:Focad UTSW 4 88,114,984 (GRCm39) intron probably benign
R1136:Focad UTSW 4 88,244,417 (GRCm39) missense unknown
R1185:Focad UTSW 4 88,096,424 (GRCm39) missense probably benign 0.40
R1185:Focad UTSW 4 88,096,424 (GRCm39) missense probably benign 0.40
R1185:Focad UTSW 4 88,096,424 (GRCm39) missense probably benign 0.40
R1412:Focad UTSW 4 88,196,498 (GRCm39) critical splice donor site probably null
R1453:Focad UTSW 4 88,275,679 (GRCm39) critical splice acceptor site probably null
R1697:Focad UTSW 4 88,327,225 (GRCm39) missense probably damaging 0.98
R1739:Focad UTSW 4 88,316,128 (GRCm39) missense probably benign 0.05
R1767:Focad UTSW 4 88,275,705 (GRCm39) missense unknown
R1827:Focad UTSW 4 88,147,620 (GRCm39) missense probably benign 0.03
R1866:Focad UTSW 4 88,325,402 (GRCm39) missense possibly damaging 0.92
R1867:Focad UTSW 4 88,096,326 (GRCm39) missense probably damaging 0.99
R1929:Focad UTSW 4 88,260,449 (GRCm39) missense unknown
R1929:Focad UTSW 4 88,315,416 (GRCm39) missense probably benign 0.32
R1937:Focad UTSW 4 88,319,318 (GRCm39) start codon destroyed probably null
R1989:Focad UTSW 4 88,151,021 (GRCm39) critical splice donor site probably null
R2176:Focad UTSW 4 88,197,481 (GRCm39) missense unknown
R2393:Focad UTSW 4 88,039,567 (GRCm39) missense probably damaging 0.96
R2431:Focad UTSW 4 88,249,264 (GRCm39) missense unknown
R3195:Focad UTSW 4 88,325,588 (GRCm39) missense possibly damaging 0.85
R3196:Focad UTSW 4 88,325,588 (GRCm39) missense possibly damaging 0.85
R3730:Focad UTSW 4 88,327,162 (GRCm39) missense possibly damaging 0.52
R3772:Focad UTSW 4 88,254,398 (GRCm39) splice site probably benign
R4391:Focad UTSW 4 88,104,195 (GRCm39) missense probably damaging 1.00
R4491:Focad UTSW 4 88,278,142 (GRCm39) critical splice donor site probably null
R4492:Focad UTSW 4 88,278,142 (GRCm39) critical splice donor site probably null
R4703:Focad UTSW 4 88,260,558 (GRCm39) critical splice donor site probably null
R4788:Focad UTSW 4 88,275,706 (GRCm39) missense unknown
R4923:Focad UTSW 4 88,115,083 (GRCm39) intron probably benign
R5026:Focad UTSW 4 88,262,819 (GRCm39) missense unknown
R5122:Focad UTSW 4 88,325,602 (GRCm39) critical splice donor site probably null
R5153:Focad UTSW 4 88,278,121 (GRCm39) missense unknown
R5369:Focad UTSW 4 88,039,610 (GRCm39) splice site probably benign
R5414:Focad UTSW 4 88,328,939 (GRCm39) utr 3 prime probably benign
R5839:Focad UTSW 4 88,115,083 (GRCm39) intron probably benign
R5916:Focad UTSW 4 88,275,778 (GRCm39) missense unknown
R5953:Focad UTSW 4 88,147,572 (GRCm39) missense probably benign 0.01
R5991:Focad UTSW 4 88,319,256 (GRCm39) missense possibly damaging 0.91
R6230:Focad UTSW 4 88,260,441 (GRCm39) missense unknown
R6247:Focad UTSW 4 88,325,377 (GRCm39) missense possibly damaging 0.92
R6324:Focad UTSW 4 88,319,305 (GRCm39) nonsense probably null
R6543:Focad UTSW 4 88,197,493 (GRCm39) missense unknown
R6639:Focad UTSW 4 88,196,479 (GRCm39) missense unknown
R6802:Focad UTSW 4 88,262,921 (GRCm39) missense unknown
R6802:Focad UTSW 4 88,192,440 (GRCm39) missense unknown
R6866:Focad UTSW 4 88,321,623 (GRCm39) missense probably benign 0.34
R6902:Focad UTSW 4 88,148,713 (GRCm39) missense unknown
R6928:Focad UTSW 4 88,267,112 (GRCm39) missense unknown
R7036:Focad UTSW 4 88,042,874 (GRCm39) missense probably benign 0.05
R7057:Focad UTSW 4 88,192,342 (GRCm39) missense unknown
R7077:Focad UTSW 4 88,328,914 (GRCm39) missense unknown
R7242:Focad UTSW 4 88,228,143 (GRCm39) missense unknown
R7357:Focad UTSW 4 88,147,572 (GRCm39) missense probably benign 0.19
R7380:Focad UTSW 4 88,192,435 (GRCm39) missense unknown
R7427:Focad UTSW 4 88,286,988 (GRCm39) missense unknown
R7582:Focad UTSW 4 88,147,615 (GRCm39) missense probably benign 0.00
R7661:Focad UTSW 4 88,221,772 (GRCm39) missense unknown
R7688:Focad UTSW 4 88,096,370 (GRCm39) missense probably damaging 1.00
R7789:Focad UTSW 4 88,147,643 (GRCm39) missense unknown
R7880:Focad UTSW 4 88,319,407 (GRCm39) missense unknown
R7887:Focad UTSW 4 88,100,853 (GRCm39) missense probably damaging 1.00
R8024:Focad UTSW 4 88,315,237 (GRCm39) missense unknown
R8129:Focad UTSW 4 88,151,000 (GRCm39) missense unknown
R8369:Focad UTSW 4 88,150,905 (GRCm39) missense unknown
R8837:Focad UTSW 4 88,072,905 (GRCm39) missense probably damaging 0.96
R9014:Focad UTSW 4 88,275,763 (GRCm39) missense unknown
R9282:Focad UTSW 4 88,115,059 (GRCm39) missense unknown
R9431:Focad UTSW 4 88,321,583 (GRCm39) missense unknown
R9435:Focad UTSW 4 88,267,076 (GRCm39) missense unknown
R9676:Focad UTSW 4 88,273,682 (GRCm39) missense unknown
X0035:Focad UTSW 4 88,316,159 (GRCm39) missense possibly damaging 0.86
Posted On 2013-04-17