Incidental Mutation 'R1767:Focad'
ID 194452
Institutional Source Beutler Lab
Gene Symbol Focad
Ensembl Gene ENSMUSG00000038368
Gene Name focadhesin
Synonyms BC057079
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R1767 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88094629-88411011 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88357468 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1105 (V1105L)
Ref Sequence ENSEMBL: ENSMUSP00000124298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097992] [ENSMUST00000159342]
AlphaFold A2AKG8
Predicted Effect unknown
Transcript: ENSMUST00000097992
AA Change: V1191L
SMART Domains Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: V1191L

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: ENSMUST00000107148
Predicted Effect unknown
Transcript: ENSMUST00000159342
AA Change: V1105L
SMART Domains Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: V1105L

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik T C 4: 124,849,961 (GRCm38) N128S possibly damaging Het
1700011H14Rik G A 14: 49,235,884 (GRCm38) T128I probably benign Het
Adam26b T A 8: 43,519,911 (GRCm38) I685F probably benign Het
Adgrf5 A T 17: 43,450,564 (GRCm38) Y1050F possibly damaging Het
Alcam A T 16: 52,270,714 (GRCm38) N480K probably damaging Het
Alk T A 17: 71,900,698 (GRCm38) H1014L possibly damaging Het
Arhgef2 A G 3: 88,643,953 (GRCm38) Q778R probably damaging Het
Arhgef6 T C X: 57,338,562 (GRCm38) M5V probably benign Het
Ascc3 T A 10: 50,718,376 (GRCm38) I1189N probably damaging Het
AU040320 G A 4: 126,840,724 (GRCm38) G713D probably damaging Het
Bmpr1a A G 14: 34,447,770 (GRCm38) probably null Het
Bpifa6 A G 2: 153,987,227 (GRCm38) T225A possibly damaging Het
Cacna1g T C 11: 94,459,802 (GRCm38) S406G probably benign Het
Ccdc40 T A 11: 119,230,696 (GRCm38) probably null Het
Cckbr A T 7: 105,434,551 (GRCm38) I229F possibly damaging Het
Cers3 A G 7: 66,783,403 (GRCm38) K156R probably damaging Het
Chd1 T A 17: 15,770,303 (GRCm38) W1706R probably damaging Het
Col11a2 T A 17: 34,063,895 (GRCm38) probably benign Het
Coq10b A G 1: 55,061,354 (GRCm38) R66G probably damaging Het
Cpn2 A T 16: 30,259,667 (GRCm38) Y405* probably null Het
Dis3 A T 14: 99,084,142 (GRCm38) Y590N probably damaging Het
Dpy19l1 T C 9: 24,462,584 (GRCm38) H270R probably benign Het
Dync1h1 G A 12: 110,636,509 (GRCm38) E2195K probably benign Het
Ephx1 C T 1: 180,994,677 (GRCm38) G101S probably damaging Het
Flg A T 3: 93,279,913 (GRCm38) Y224F possibly damaging Het
Fzd1 A G 5: 4,756,812 (GRCm38) Y257H probably benign Het
Gm11116 T C 5: 88,111,452 (GRCm38) probably benign Het
Gm11938 G A 11: 99,603,245 (GRCm38) S8F unknown Het
Gm9008 A T 6: 76,497,605 (GRCm38) N9K unknown Het
Grin3a A T 4: 49,844,423 (GRCm38) V220E probably damaging Het
Gstt2 T C 10: 75,834,264 (GRCm38) D8G probably damaging Het
Gtf3c3 C T 1: 54,417,778 (GRCm38) A488T probably damaging Het
Hook3 A G 8: 26,071,056 (GRCm38) probably null Het
Itpr2 T C 6: 146,350,068 (GRCm38) D993G possibly damaging Het
Jhy T C 9: 40,961,148 (GRCm38) R22G probably benign Het
Krt13 A C 11: 100,121,100 (GRCm38) H132Q possibly damaging Het
Krtap27-1 G A 16: 88,671,311 (GRCm38) S115L probably damaging Het
L1td1 T C 4: 98,737,449 (GRCm38) V627A probably benign Het
Lrrn4cl A G 19: 8,851,771 (GRCm38) T38A probably benign Het
Ly96 A G 1: 16,706,175 (GRCm38) T112A probably benign Het
Meltf G T 16: 31,883,929 (GRCm38) C158F probably damaging Het
Mycbp2 A T 14: 103,248,405 (GRCm38) H1040Q probably damaging Het
Npas4 G A 19: 4,988,183 (GRCm38) P199L probably benign Het
Olfr1087 A G 2: 86,690,384 (GRCm38) M197T probably benign Het
Olfr530 T C 7: 140,373,476 (GRCm38) I45V possibly damaging Het
Olfr569 T A 7: 102,887,626 (GRCm38) I176F probably damaging Het
Pcdh10 A T 3: 45,384,177 (GRCm38) H923L probably damaging Het
Pias3 T C 3: 96,701,403 (GRCm38) S228P probably damaging Het
Pign A G 1: 105,653,192 (GRCm38) V154A probably benign Het
Plod3 T A 5: 136,990,176 (GRCm38) V305E possibly damaging Het
Prkra G T 2: 76,647,240 (GRCm38) H40Q possibly damaging Het
Prss22 T A 17: 23,996,357 (GRCm38) E148D probably benign Het
Psg17 A G 7: 18,816,802 (GRCm38) V376A possibly damaging Het
Retnlg A T 16: 48,873,628 (GRCm38) D49V possibly damaging Het
Rtp1 A G 16: 23,431,374 (GRCm38) E163G probably damaging Het
Slc6a20a T A 9: 123,637,100 (GRCm38) I522F probably damaging Het
Slco5a1 T C 1: 12,989,615 (GRCm38) D294G probably damaging Het
Slco6d1 A G 1: 98,490,549 (GRCm38) T487A possibly damaging Het
Smarcc2 A T 10: 128,469,082 (GRCm38) D262V possibly damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Ssbp3 G T 4: 107,047,415 (GRCm38) D336Y probably damaging Het
Sun2 A G 15: 79,725,557 (GRCm38) S694P probably benign Het
Tdp1 G A 12: 99,891,343 (GRCm38) probably null Het
Tfap2a A T 13: 40,725,137 (GRCm38) I204N probably damaging Het
Tfip11 T A 5: 112,334,432 (GRCm38) W519R probably damaging Het
Tie1 T C 4: 118,476,176 (GRCm38) E831G possibly damaging Het
Tjp1 A G 7: 65,312,553 (GRCm38) probably null Het
Tln2 C T 9: 67,286,514 (GRCm38) A1773T probably benign Het
Tmem39b A C 4: 129,693,183 (GRCm38) I78M possibly damaging Het
Trank1 T C 9: 111,391,479 (GRCm38) V2428A probably benign Het
Trim35 A G 14: 66,304,168 (GRCm38) E247G probably damaging Het
Tsc22d1 T C 14: 76,418,102 (GRCm38) S674P probably damaging Het
Tsn A T 1: 118,300,888 (GRCm38) D201E probably damaging Het
Usp42 A T 5: 143,714,866 (GRCm38) V1134E possibly damaging Het
Uvrag A G 7: 99,099,394 (GRCm38) I117T probably damaging Het
Vmn1r192 A G 13: 22,187,271 (GRCm38) S260P probably benign Het
Vmn2r110 C T 17: 20,580,578 (GRCm38) A531T possibly damaging Het
Wdsub1 A T 2: 59,858,714 (GRCm38) I388N probably damaging Het
Wnt10b A T 15: 98,772,675 (GRCm38) L228Q probably damaging Het
Zbtb34 A C 2: 33,411,336 (GRCm38) S398A 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
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
R4391:Focad UTSW 4 88,185,958 (GRCm38) missense probably damaging 1.00
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'- TGCACTTGAACCTCCAAATCCTAGC -3'
(R):5'- TCCATCCCAGGAAGTGAGTCAGAC -3'

Sequencing Primer
(F):5'- tgaacCTCCAAATCCTAGCTAAGATG -3'
(R):5'- AAGTGAGTCAGACAGCAGC -3'
Posted On 2014-05-23