Incidental Mutation 'R0554:Focad'
ID 45336
Institutional Source Beutler Lab
Gene Symbol Focad
Ensembl Gene ENSMUSG00000038368
Gene Name focadhesin
Synonyms BC057079
MMRRC Submission 038746-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R0554 (G1)
Quality Score 212
Status Not validated
Chromosome 4
Chromosomal Location 88012866-88329248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88267126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1046 (Y1046H)
Ref Sequence ENSEMBL: ENSMUSP00000124298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097992] [ENSMUST00000159342]
AlphaFold A2AKG8
Predicted Effect unknown
Transcript: ENSMUST00000097992
AA Change: Y1132H
SMART Domains Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: Y1132H

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: Y1046H
SMART Domains Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: Y1046H

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik T A 5: 144,982,181 (GRCm39) Y255* probably null Het
1810024B03Rik A G 2: 127,029,196 (GRCm39) M1T probably null Het
4930503L19Rik T C 18: 70,600,451 (GRCm39) D386G probably damaging Het
Ace2 T A X: 162,958,947 (GRCm39) N601K probably benign Het
Adam4 A C 12: 81,468,198 (GRCm39) I141R probably damaging Het
Adcy10 G A 1: 165,340,699 (GRCm39) G235S probably benign Het
Adcy5 G A 16: 35,114,387 (GRCm39) V997I probably benign Het
Aff2 T G X: 68,907,680 (GRCm39) W1221G possibly damaging Het
Ankrd44 T C 1: 54,802,917 (GRCm39) N194D probably benign Het
Apba2 T G 7: 64,395,528 (GRCm39) L668R probably damaging Het
Asph T C 4: 9,604,581 (GRCm39) D152G probably damaging Het
Bcl3 C G 7: 19,553,991 (GRCm39) V126L probably benign Het
Cd163 A G 6: 124,289,619 (GRCm39) T446A probably benign Het
Cd209g C T 8: 4,184,995 (GRCm39) probably benign Het
Cdadc1 A T 14: 59,823,901 (GRCm39) V197E probably damaging Het
CN725425 T C 15: 91,144,966 (GRCm39) C610R possibly damaging Het
Col6a2 A G 10: 76,446,995 (GRCm39) probably null Het
Coro7 A G 16: 4,450,121 (GRCm39) L576P possibly damaging Het
Dgkb T A 12: 38,266,030 (GRCm39) V503E probably benign Het
Dhx57 A T 17: 80,567,665 (GRCm39) L806* probably null Het
Dlec1 T C 9: 118,944,070 (GRCm39) V373A probably benign Het
Dnah11 G T 12: 117,894,913 (GRCm39) R3645S probably benign Het
Dnhd1 T C 7: 105,343,602 (GRCm39) S1649P probably benign Het
Draxin T G 4: 148,192,420 (GRCm39) K297N probably damaging Het
Epha7 T C 4: 28,951,401 (GRCm39) S841P probably damaging Het
Esp8 T G 17: 40,841,166 (GRCm39) D142E unknown Het
F5 T G 1: 164,007,018 (GRCm39) V274G probably damaging Het
Fancc T C 13: 63,465,283 (GRCm39) S475G probably benign Het
Fmo3 T C 1: 162,781,901 (GRCm39) N484S probably benign Het
Furin C T 7: 80,041,032 (GRCm39) G602D probably damaging Het
Fut8 A T 12: 77,411,744 (GRCm39) I69L probably benign Het
Gnai3 A G 3: 108,030,928 (GRCm39) I78T probably benign Het
Gpr182 T C 10: 127,586,940 (GRCm39) I4V probably benign Het
Gpr63 T C 4: 25,007,447 (GRCm39) M57T probably benign Het
Grm1 T A 10: 10,595,667 (GRCm39) T654S probably benign Het
Gtf2h4 T C 17: 35,979,531 (GRCm39) T371A probably benign Het
Helq T C 5: 100,938,066 (GRCm39) N460S probably benign Het
Hmcn1 T C 1: 150,594,868 (GRCm39) N1867S probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Iigp1c G A 18: 60,378,489 (GRCm39) R8H probably benign Het
Inpp5j A G 11: 3,449,644 (GRCm39) Y713H probably damaging Het
Ints6 A T 14: 62,942,200 (GRCm39) V511D possibly damaging Het
Irag2 G A 6: 145,111,013 (GRCm39) A237T probably benign Het
Itga4 A G 2: 79,109,461 (GRCm39) Y220C probably damaging Het
Itgav T G 2: 83,624,614 (GRCm39) S735A possibly damaging Het
Kctd16 A G 18: 40,391,492 (GRCm39) I27V probably benign Het
Klhl6 T C 16: 19,772,343 (GRCm39) E334G probably damaging Het
Ltbp1 T A 17: 75,532,274 (GRCm39) L116H probably damaging Het
Magohb T A 6: 131,262,660 (GRCm39) H98L probably benign Het
Mgat2 A G 12: 69,232,166 (GRCm39) T247A probably benign Het
Mtif2 G A 11: 29,483,398 (GRCm39) probably null Het
Myrfl T C 10: 116,664,878 (GRCm39) E384G probably damaging Het
Nfam1 G T 15: 82,917,410 (GRCm39) R8S probably benign Het
Numa1 T C 7: 101,644,731 (GRCm39) S236P possibly damaging Het
Or14c46 A T 7: 85,918,865 (GRCm39) I44N probably damaging Het
Or2w3b T C 11: 58,623,865 (GRCm39) N42S probably damaging Het
Or5m10b T C 2: 85,699,863 (GRCm39) F309S probably benign Het
Or6c207 T C 10: 129,104,368 (GRCm39) T275A probably benign Het
Orc4 C T 2: 48,795,433 (GRCm39) S431N probably benign Het
Pax2 T C 19: 44,750,300 (GRCm39) V129A probably damaging Het
Pcdhb15 A G 18: 37,607,572 (GRCm39) D268G probably damaging Het
Pdcd1 G A 1: 93,967,107 (GRCm39) R264C probably damaging Het
Pi15 T A 1: 17,691,872 (GRCm39) M187K probably benign Het
Plag1 C T 4: 3,904,546 (GRCm39) C215Y probably damaging Het
Plagl1 A G 10: 13,002,926 (GRCm39) T65A probably benign Het
Pramel51 T C 12: 88,144,328 (GRCm39) T162A probably benign Het
Prss48 T A 3: 85,908,228 (GRCm39) Q18L probably benign Het
Prune2 T A 19: 17,102,582 (GRCm39) C2580* probably null Het
Rab40b T A 11: 121,250,432 (GRCm39) Q74L probably damaging Het
Raf1 A G 6: 115,600,491 (GRCm39) I376T probably benign Het
Rbm46 A T 3: 82,772,575 (GRCm39) F186I probably damaging Het
Reps1 C T 10: 17,998,867 (GRCm39) T720M possibly damaging Het
Rgs22 A G 15: 36,054,855 (GRCm39) M649T probably benign Het
Rhot1 C T 11: 80,134,264 (GRCm39) R47* probably null Het
Rhox2f A G X: 36,753,124 (GRCm39) Y8C possibly damaging Het
Rnf17 A G 14: 56,760,007 (GRCm39) Y1604C probably damaging Het
Rnf40 T C 7: 127,201,756 (GRCm39) C943R probably damaging Het
Ropn1l A T 15: 31,451,295 (GRCm39) M63K probably benign Het
Sbf2 C A 7: 110,027,494 (GRCm39) V501F probably damaging Het
Sh3bp1 T A 15: 78,791,467 (GRCm39) M354K probably damaging Het
Sipa1l3 T C 7: 29,087,455 (GRCm39) H590R possibly damaging Het
Slco6d1 T A 1: 98,394,422 (GRCm39) C369S probably benign Het
Sulf1 T C 1: 12,875,418 (GRCm39) Y143H probably damaging Het
Tiam2 A T 17: 3,488,956 (GRCm39) R755* probably null Het
Trim12c C A 7: 103,994,169 (GRCm39) L228F probably damaging Het
Ttc23l G T 15: 10,530,743 (GRCm39) Q290K probably benign Het
Uba3 T C 6: 97,168,221 (GRCm39) probably null Het
Ugt1a10 A G 1: 87,983,817 (GRCm39) E205G probably damaging Het
Ugt3a1 T A 15: 9,351,206 (GRCm39) S72T probably benign Het
Upk3bl C T 5: 136,088,648 (GRCm39) T113I probably damaging Het
Uspl1 T A 5: 149,124,644 (GRCm39) D20E probably damaging Het
Vmn2r19 G A 6: 123,313,102 (GRCm39) G724E probably damaging Het
Vmn2r63 T A 7: 42,583,129 (GRCm39) K29* probably null Het
Vwf C T 6: 125,619,744 (GRCm39) A1474V probably benign Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zfp462 A G 4: 55,013,689 (GRCm39) H737R probably damaging Het
Zfp536 T C 7: 37,180,244 (GRCm39) D787G probably damaging Het
Zfp692 A G 11: 58,205,053 (GRCm39) H434R probably damaging Het
Zp1 C A 19: 10,897,926 (GRCm39) C5F probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACAAGCATCTCTCTGGACCAGAAGG -3'
(R):5'- AAATGGCACACATTGCTCTGCAC -3'

Sequencing Primer
(F):5'- gcatactggacaagcactctac -3'
(R):5'- TCCACCGATAGCAGGGTTTAG -3'
Posted On 2013-06-11