Incidental Mutation 'R3730:Focad'
ID 270921
Institutional Source Beutler Lab
Gene Symbol Focad
Ensembl Gene ENSMUSG00000038368
Gene Name focadhesin
Synonyms BC057079
Accession Numbers
Essential gene? Possibly essential (E-score: 0.515) question?
Stock # R3730 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 88012866-88329248 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88327162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 157 (I157T)
Ref Sequence ENSEMBL: ENSMUSP00000102765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030221] [ENSMUST00000097992] [ENSMUST00000107147] [ENSMUST00000132493] [ENSMUST00000159342]
AlphaFold A2AKG8
Predicted Effect probably benign
Transcript: ENSMUST00000030221
SMART Domains Protein: ENSMUSP00000030221
Gene: ENSMUSG00000028497

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:PTPLA 65 226 3.4e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097992
AA Change: I1751T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000095602
Gene: ENSMUSG00000038368
AA Change: I1751T

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 possibly damaging
Transcript: ENSMUST00000107147
AA Change: I157T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102765
Gene: ENSMUSG00000038368
AA Change: I157T

DomainStartEndE-ValueType
Pfam:DUF3028 1 204 8.6e-136 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107148
Predicted Effect probably benign
Transcript: ENSMUST00000132493
SMART Domains Protein: ENSMUSP00000119411
Gene: ENSMUSG00000028497

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:PTPLA 80 234 1.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151280
SMART Domains Protein: ENSMUSP00000122565
Gene: ENSMUSG00000028497

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:PTPLA 85 244 3e-37 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159342
AA Change: I1665T
SMART Domains Protein: ENSMUSP00000124298
Gene: ENSMUSG00000038368
AA Change: I1665T

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: ENSMUST00000162039
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,615,450 (GRCm39) N141S probably damaging Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Acot12 T A 13: 91,908,145 (GRCm39) F109Y possibly damaging Het
Adamts19 G A 18: 59,033,982 (GRCm39) R319Q probably damaging Het
Akap1 T C 11: 88,736,008 (GRCm39) E218G possibly damaging Het
Atg4b T A 1: 93,695,997 (GRCm39) D45E probably damaging Het
Atoh1 A G 6: 64,706,557 (GRCm39) E84G probably benign Het
Cemip2 A G 19: 21,803,481 (GRCm39) Y838C probably damaging Het
Cfap251 A T 5: 123,464,631 (GRCm39) I1280L possibly damaging Het
Cfap54 A T 10: 92,847,335 (GRCm39) Y951* probably null Het
Col4a4 T A 1: 82,433,472 (GRCm39) probably null Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Cyp3a25 G A 5: 145,939,891 (GRCm39) P39S probably damaging Het
Dhx9 C A 1: 153,353,866 (GRCm39) A186S probably benign Het
Dusp16 A G 6: 134,695,824 (GRCm39) S336P probably benign Het
Fcgbp T C 7: 27,784,882 (GRCm39) V314A possibly damaging Het
Frem3 A T 8: 81,342,545 (GRCm39) T1613S probably damaging Het
Fshr C T 17: 89,309,143 (GRCm39) V222I probably benign Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 A T 13: 70,751,359 (GRCm39) S1576T probably damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Itga8 T C 2: 12,198,321 (GRCm39) T555A possibly damaging Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Ktn1 A G 14: 47,938,606 (GRCm39) E766G probably damaging Het
Ldlr C G 9: 21,643,097 (GRCm39) A41G probably benign Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Mapk11 G A 15: 89,029,318 (GRCm39) A248V probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Npr2 T C 4: 43,640,999 (GRCm39) S402P possibly damaging Het
Olfm2 T C 9: 20,584,063 (GRCm39) N76D probably damaging Het
Or7g33 T A 9: 19,448,447 (GRCm39) I260F probably benign Het
Or8k3 A G 2: 86,059,195 (GRCm39) I40T probably benign Het
Pias4 A T 10: 80,999,888 (GRCm39) F55Y probably damaging Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc35e4 A G 11: 3,862,577 (GRCm39) V204A possibly damaging Het
Syt4 T C 18: 31,577,189 (GRCm39) H55R probably damaging Het
Trim46 T A 3: 89,142,256 (GRCm39) T721S probably benign Het
Usf3 G T 16: 44,038,938 (GRCm39) L1139F probably benign Het
Xrn2 A T 2: 146,866,729 (GRCm39) M100L probably benign Het
Zbtb33 C A X: 37,281,822 (GRCm39) N243K probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H 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
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
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
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'- ATCAGAGGTGTATCTTTCATTCCTG -3'
(R):5'- ATTAATGGTGCTGGCCCTCC -3'

Sequencing Primer
(F):5'- GTCTCATCTCTGCACCGC -3'
(R):5'- TTCCCATCTTTCTGACTTAAAATACC -3'
Posted On 2015-03-18