Incidental Mutation 'R4391:Focad'
ID 326360
Institutional Source Beutler Lab
Gene Symbol Focad
Ensembl Gene ENSMUSG00000038368
Gene Name focadhesin
Synonyms BC057079
MMRRC Submission 041682-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R4391 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 88094629-88411011 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88185958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 358 (I358K)
Ref Sequence ENSEMBL: ENSMUSP00000124298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097992] [ENSMUST00000159342]
AlphaFold A2AKG8
Predicted Effect unknown
Transcript: ENSMUST00000097992
AA Change: I358K
SMART Domains Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: I358K

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 probably damaging
Transcript: ENSMUST00000159342
AA Change: I358K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: I358K

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
Meta Mutation Damage Score 0.5774 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 91.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030469F06Rik A T 12: 31,184,623 (GRCm38) noncoding transcript Het
A530032D15Rik G A 1: 85,085,131 (GRCm38) probably benign Het
Actn2 C T 13: 12,290,748 (GRCm38) R394Q probably damaging Het
Atg16l1 A G 1: 87,760,120 (GRCm38) D62G probably damaging Het
Atp2b1 A G 10: 99,003,214 (GRCm38) T635A probably benign Het
Chil4 G A 3: 106,203,727 (GRCm38) P284S possibly damaging Het
Dnah1 G A 14: 31,294,835 (GRCm38) T1575I probably damaging Het
Dnah7b A G 1: 46,337,594 (GRCm38) probably null Het
Dnajc12 A G 10: 63,407,059 (GRCm38) T37A probably benign Het
Efcab5 T A 11: 77,090,458 (GRCm38) N1354I probably damaging Het
Epas1 T C 17: 86,809,663 (GRCm38) L218P probably benign Het
Fbxw15 T A 9: 109,568,232 (GRCm38) probably benign Het
Filip1l C A 16: 57,570,792 (GRCm38) S581* probably null Het
Gm382 T A X: 127,061,319 (GRCm38) S376T probably benign Het
Gpsm1 C T 2: 26,323,997 (GRCm38) R179C probably damaging Het
Hjurp A G 1: 88,266,561 (GRCm38) probably benign Het
Homer3 G A 8: 70,290,143 (GRCm38) probably null Het
Krt39 C T 11: 99,514,752 (GRCm38) A441T probably benign Het
Nrd1 T A 4: 109,046,644 (GRCm38) N662K probably damaging Het
Obox5 C T 7: 15,757,974 (GRCm38) Q105* probably null Het
Olfr312 T A 11: 58,832,015 (GRCm38) V287D possibly damaging Het
Olfr681 T A 7: 105,121,586 (GRCm38) M43K possibly damaging Het
Olfr891 A T 9: 38,180,349 (GRCm38) V158D probably damaging Het
Pcdhb5 T A 18: 37,322,736 (GRCm38) L723Q possibly damaging Het
Pou3f3 G T 1: 42,697,458 (GRCm38) A105S unknown Het
Ppp1r3d C T 2: 178,414,087 (GRCm38) D41N probably damaging Het
Ppp4r1 A G 17: 65,824,754 (GRCm38) N497S probably benign Het
Rad54b T G 4: 11,615,570 (GRCm38) N859K probably benign Het
Sh3bp2 C T 5: 34,549,718 (GRCm38) S29L probably benign Het
Smarcad1 A T 6: 65,056,459 (GRCm38) N142I probably benign Het
Stat3 G A 11: 100,905,552 (GRCm38) probably benign Het
Stmn3 T C 2: 181,308,783 (GRCm38) R77G probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,211,984 (GRCm38) probably benign Het
Vmn2r79 A G 7: 87,001,891 (GRCm38) H166R possibly damaging Het
Xlr3a T C X: 73,091,844 (GRCm38) I87V possibly damaging Het
Other mutations in Focad
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Focad APN 4 88,357,474 (GRCm38) missense unknown
IGL00562:Focad APN 4 88,348,809 (GRCm38) missense unknown
IGL00563:Focad APN 4 88,348,809 (GRCm38) missense unknown
IGL00900:Focad APN 4 88,129,023 (GRCm38) missense probably damaging 0.99
IGL00984:Focad APN 4 88,344,785 (GRCm38) missense unknown
IGL01016:Focad APN 4 88,392,015 (GRCm38) missense possibly damaging 0.51
IGL01069:Focad APN 4 88,326,146 (GRCm38) missense unknown
IGL01305:Focad APN 4 88,393,547 (GRCm38) missense probably benign 0.32
IGL01409:Focad APN 4 88,342,305 (GRCm38) missense unknown
IGL01447:Focad APN 4 88,326,228 (GRCm38) missense unknown
IGL01521:Focad APN 4 88,410,690 (GRCm38) makesense probably null
IGL01672:Focad APN 4 88,360,590 (GRCm38) critical splice donor site probably null
IGL01739:Focad APN 4 88,370,806 (GRCm38) missense unknown
IGL02082:Focad APN 4 88,230,578 (GRCm38) nonsense probably null
IGL02139:Focad APN 4 88,129,054 (GRCm38) critical splice donor site probably null
IGL02381:Focad APN 4 88,274,090 (GRCm38) splice site probably benign
IGL02898:Focad APN 4 88,391,997 (GRCm38) missense probably benign 0.02
certitude UTSW 4 88,178,133 (GRCm38) missense probably damaging 1.00
impression UTSW 4 88,278,242 (GRCm38) missense unknown
Microscope UTSW 4 88,342,204 (GRCm38) missense unknown
Nuance UTSW 4 88,196,846 (GRCm38) intron probably benign
Objective UTSW 4 88,401,068 (GRCm38) nonsense probably null
ANU22:Focad UTSW 4 88,393,547 (GRCm38) missense probably benign 0.32
R0025:Focad UTSW 4 88,408,959 (GRCm38) missense probably benign 0.02
R0554:Focad UTSW 4 88,348,889 (GRCm38) missense unknown
R0617:Focad UTSW 4 88,121,288 (GRCm38) unclassified probably benign
R0688:Focad UTSW 4 88,274,213 (GRCm38) missense unknown
R0746:Focad UTSW 4 88,397,214 (GRCm38) missense possibly damaging 0.84
R0907:Focad UTSW 4 88,278,261 (GRCm38) critical splice donor site probably null
R1109:Focad UTSW 4 88,196,747 (GRCm38) intron probably benign
R1136:Focad UTSW 4 88,326,180 (GRCm38) missense unknown
R1185:Focad UTSW 4 88,178,187 (GRCm38) missense probably benign 0.40
R1185:Focad UTSW 4 88,178,187 (GRCm38) missense probably benign 0.40
R1185:Focad UTSW 4 88,178,187 (GRCm38) missense probably benign 0.40
R1412:Focad UTSW 4 88,278,261 (GRCm38) critical splice donor site probably null
R1453:Focad UTSW 4 88,357,442 (GRCm38) critical splice acceptor site probably null
R1697:Focad UTSW 4 88,408,988 (GRCm38) missense probably damaging 0.98
R1739:Focad UTSW 4 88,397,891 (GRCm38) missense probably benign 0.05
R1767:Focad UTSW 4 88,357,468 (GRCm38) missense unknown
R1827:Focad UTSW 4 88,229,383 (GRCm38) missense probably benign 0.03
R1866:Focad UTSW 4 88,407,165 (GRCm38) missense possibly damaging 0.92
R1867:Focad UTSW 4 88,178,089 (GRCm38) missense probably damaging 0.99
R1929:Focad UTSW 4 88,342,212 (GRCm38) missense unknown
R1929:Focad UTSW 4 88,397,179 (GRCm38) missense probably benign 0.32
R1937:Focad UTSW 4 88,401,081 (GRCm38) start codon destroyed probably null
R1989:Focad UTSW 4 88,232,784 (GRCm38) critical splice donor site probably null
R2176:Focad UTSW 4 88,279,244 (GRCm38) missense unknown
R2393:Focad UTSW 4 88,121,330 (GRCm38) missense probably damaging 0.96
R2431:Focad UTSW 4 88,331,027 (GRCm38) missense unknown
R3195:Focad UTSW 4 88,407,351 (GRCm38) missense possibly damaging 0.85
R3196:Focad UTSW 4 88,407,351 (GRCm38) missense possibly damaging 0.85
R3730:Focad UTSW 4 88,408,925 (GRCm38) missense possibly damaging 0.52
R3772:Focad UTSW 4 88,336,161 (GRCm38) splice site probably benign
R4491:Focad UTSW 4 88,359,905 (GRCm38) critical splice donor site probably null
R4492:Focad UTSW 4 88,359,905 (GRCm38) critical splice donor site probably null
R4703:Focad UTSW 4 88,342,321 (GRCm38) critical splice donor site probably null
R4788:Focad UTSW 4 88,357,469 (GRCm38) missense unknown
R4923:Focad UTSW 4 88,196,846 (GRCm38) intron probably benign
R5026:Focad UTSW 4 88,344,582 (GRCm38) missense unknown
R5122:Focad UTSW 4 88,407,365 (GRCm38) critical splice donor site probably null
R5153:Focad UTSW 4 88,359,884 (GRCm38) missense unknown
R5369:Focad UTSW 4 88,121,373 (GRCm38) splice site probably benign
R5414:Focad UTSW 4 88,410,702 (GRCm38) utr 3 prime probably benign
R5839:Focad UTSW 4 88,196,846 (GRCm38) intron probably benign
R5916:Focad UTSW 4 88,357,541 (GRCm38) missense unknown
R5953:Focad UTSW 4 88,229,335 (GRCm38) missense probably benign 0.01
R5991:Focad UTSW 4 88,401,019 (GRCm38) missense possibly damaging 0.91
R6230:Focad UTSW 4 88,342,204 (GRCm38) missense unknown
R6247:Focad UTSW 4 88,407,140 (GRCm38) missense possibly damaging 0.92
R6324:Focad UTSW 4 88,401,068 (GRCm38) nonsense probably null
R6543:Focad UTSW 4 88,279,256 (GRCm38) missense unknown
R6639:Focad UTSW 4 88,278,242 (GRCm38) missense unknown
R6802:Focad UTSW 4 88,344,684 (GRCm38) missense unknown
R6802:Focad UTSW 4 88,274,203 (GRCm38) missense unknown
R6866:Focad UTSW 4 88,403,386 (GRCm38) missense probably benign 0.34
R6902:Focad UTSW 4 88,230,476 (GRCm38) missense unknown
R6928:Focad UTSW 4 88,348,875 (GRCm38) missense unknown
R7036:Focad UTSW 4 88,124,637 (GRCm38) missense probably benign 0.05
R7057:Focad UTSW 4 88,274,105 (GRCm38) missense unknown
R7077:Focad UTSW 4 88,410,677 (GRCm38) missense unknown
R7242:Focad UTSW 4 88,309,906 (GRCm38) missense unknown
R7357:Focad UTSW 4 88,229,335 (GRCm38) missense probably benign 0.19
R7380:Focad UTSW 4 88,274,198 (GRCm38) missense unknown
R7427:Focad UTSW 4 88,368,751 (GRCm38) missense unknown
R7582:Focad UTSW 4 88,229,378 (GRCm38) missense probably benign 0.00
R7661:Focad UTSW 4 88,303,535 (GRCm38) missense unknown
R7688:Focad UTSW 4 88,178,133 (GRCm38) missense probably damaging 1.00
R7789:Focad UTSW 4 88,229,406 (GRCm38) missense unknown
R7880:Focad UTSW 4 88,401,170 (GRCm38) missense unknown
R7887:Focad UTSW 4 88,182,616 (GRCm38) missense probably damaging 1.00
R8024:Focad UTSW 4 88,397,000 (GRCm38) missense unknown
R8129:Focad UTSW 4 88,232,763 (GRCm38) missense unknown
R8369:Focad UTSW 4 88,232,668 (GRCm38) missense unknown
R8837:Focad UTSW 4 88,154,668 (GRCm38) missense probably damaging 0.96
R9014:Focad UTSW 4 88,357,526 (GRCm38) missense unknown
R9282:Focad UTSW 4 88,196,822 (GRCm38) missense unknown
R9431:Focad UTSW 4 88,403,346 (GRCm38) missense unknown
R9435:Focad UTSW 4 88,348,839 (GRCm38) missense unknown
R9676:Focad UTSW 4 88,355,445 (GRCm38) missense unknown
X0035:Focad UTSW 4 88,397,922 (GRCm38) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- AGCTGGTTGTAAATGTGCAAG -3'
(R):5'- TAGTCCAGAGCAGCATAACATC -3'

Sequencing Primer
(F):5'- GCAAGAAAAACTCTATTTCATGGGG -3'
(R):5'- GTACAGTGAACTTACATTGAAGCAG -3'
Posted On 2015-07-06