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: 0.539) question?
Stock # R1767 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88012866-88329248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 88275705 bp (GRCm39)
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: 124,743,754 (GRCm39) N128S possibly damaging Het
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Adgrf5 A T 17: 43,761,455 (GRCm39) Y1050F possibly damaging Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Alk T A 17: 72,207,693 (GRCm39) H1014L possibly damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bmpr1a A G 14: 34,169,727 (GRCm39) probably null Het
Bpifa6 A G 2: 153,829,147 (GRCm39) T225A possibly damaging Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cckbr A T 7: 105,083,758 (GRCm39) I229F possibly damaging Het
Cers3 A G 7: 66,433,151 (GRCm39) K156R probably damaging Het
Chd1 T A 17: 15,990,565 (GRCm39) W1706R probably damaging Het
Col11a2 T A 17: 34,282,869 (GRCm39) probably benign Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Dis3 A T 14: 99,321,578 (GRCm39) Y590N probably damaging Het
Dpy19l1 T C 9: 24,373,880 (GRCm39) H270R probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ephx1 C T 1: 180,822,242 (GRCm39) G101S probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Fzd1 A G 5: 4,806,812 (GRCm39) Y257H probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm11938 G A 11: 99,494,071 (GRCm39) S8F unknown Het
Grin3a A T 4: 49,844,423 (GRCm39) V220E probably damaging Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hook3 A G 8: 26,561,084 (GRCm39) probably null Het
Itpr2 T C 6: 146,251,566 (GRCm39) D993G possibly damaging Het
Jhy T C 9: 40,872,444 (GRCm39) R22G probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
Krtap27-1 G A 16: 88,468,199 (GRCm39) S115L probably damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12j3 T C 7: 139,953,389 (GRCm39) I45V possibly damaging Het
Or52r1 T A 7: 102,536,833 (GRCm39) I176F probably damaging Het
Or8k3b A G 2: 86,520,728 (GRCm39) M197T probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Prkra G T 2: 76,477,584 (GRCm39) H40Q possibly damaging Het
Prss22 T A 17: 24,215,331 (GRCm39) E148D probably benign Het
Psg17 A G 7: 18,550,727 (GRCm39) V376A possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rnf26rt A T 6: 76,474,588 (GRCm39) N9K unknown Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Slco5a1 T C 1: 13,059,839 (GRCm39) D294G probably damaging Het
Slco6d1 A G 1: 98,418,274 (GRCm39) T487A possibly damaging Het
Smarcc2 A T 10: 128,304,951 (GRCm39) D262V possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tjp1 A G 7: 64,962,301 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Usp42 A T 5: 143,700,621 (GRCm39) V1134E possibly damaging Het
Uvrag A G 7: 98,748,601 (GRCm39) I117T probably damaging Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r110 C T 17: 20,800,840 (GRCm39) A531T possibly damaging Het
Wdsub1 A T 2: 59,689,058 (GRCm39) I388N probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zbtb34 A C 2: 33,301,348 (GRCm39) S398A possibly 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
IGL00900:Focad APN 4 88,047,260 (GRCm39) missense probably damaging 0.99
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
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
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