Incidental Mutation 'IGL02024:Itgbl1'
ID 184095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgbl1
Ensembl Gene ENSMUSG00000032925
Gene Name integrin, beta-like 1
Synonyms with EGF-like repeat domains, B930011D01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02024
Quality Score
Status
Chromosome 14
Chromosomal Location 123897383-124213030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124094904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 186 (C186S)
Ref Sequence ENSEMBL: ENSMUSP00000115455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049681] [ENSMUST00000132026] [ENSMUST00000142161]
AlphaFold Q8VDV0
Predicted Effect probably damaging
Transcript: ENSMUST00000049681
AA Change: C310S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: C310S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
internal_repeat_1 62 164 7.9e-12 PROSPERO
EGF_like 184 217 6.95e1 SMART
EGF 275 311 2.25e1 SMART
low complexity region 335 348 N/A INTRINSIC
Pfam:EGF_2 368 398 3.6e-8 PFAM
low complexity region 423 438 N/A INTRINSIC
low complexity region 448 456 N/A INTRINSIC
Blast:EGF_like 457 486 4e-9 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000132026
AA Change: C186S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: C186S

DomainStartEndE-ValueType
internal_repeat_2 22 50 3.54e-8 PROSPERO
internal_repeat_1 23 87 7.45e-14 PROSPERO
low complexity region 101 126 N/A INTRINSIC
EGF 151 187 2.25e1 SMART
low complexity region 211 224 N/A INTRINSIC
Pfam:EGF_2 239 274 1.5e-7 PFAM
low complexity region 299 314 N/A INTRINSIC
low complexity region 324 332 N/A INTRINSIC
internal_repeat_2 334 362 3.54e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000142161
SMART Domains Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
PDB:4G1E|B 59 171 1e-17 PDB
Blast:EGF_like 90 127 5e-15 BLAST
low complexity region 178 192 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Htr2c T A X: 145,858,921 (GRCm39) M77K probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Or6s1 T G 14: 51,308,766 (GRCm39) E28A probably benign Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Porcn C T X: 8,067,901 (GRCm39) V233I probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Slc6a8 C T X: 72,722,583 (GRCm39) probably benign Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly damaging Het
Other mutations in Itgbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Itgbl1 APN 14 124,083,844 (GRCm39) splice site probably benign
IGL01290:Itgbl1 APN 14 124,204,137 (GRCm39) missense probably benign 0.02
IGL01618:Itgbl1 APN 14 124,065,211 (GRCm39) missense possibly damaging 0.88
IGL02192:Itgbl1 APN 14 124,081,338 (GRCm39) missense probably damaging 1.00
IGL02215:Itgbl1 APN 14 124,209,553 (GRCm39) missense probably benign 0.01
IGL02400:Itgbl1 APN 14 124,083,938 (GRCm39) missense probably damaging 1.00
IGL02483:Itgbl1 APN 14 124,065,155 (GRCm39) splice site probably benign
BB002:Itgbl1 UTSW 14 124,210,735 (GRCm39) missense possibly damaging 0.68
BB012:Itgbl1 UTSW 14 124,210,735 (GRCm39) missense possibly damaging 0.68
H8441:Itgbl1 UTSW 14 124,210,699 (GRCm39) missense probably damaging 1.00
R0137:Itgbl1 UTSW 14 124,078,098 (GRCm39) critical splice donor site probably null
R0193:Itgbl1 UTSW 14 124,083,958 (GRCm39) missense probably benign 0.09
R0355:Itgbl1 UTSW 14 124,077,997 (GRCm39) nonsense probably null
R0598:Itgbl1 UTSW 14 124,094,848 (GRCm39) missense possibly damaging 0.93
R0662:Itgbl1 UTSW 14 124,065,306 (GRCm39) missense probably damaging 1.00
R0689:Itgbl1 UTSW 14 124,065,259 (GRCm39) missense possibly damaging 0.65
R1385:Itgbl1 UTSW 14 123,898,923 (GRCm39) splice site probably null
R1957:Itgbl1 UTSW 14 124,204,090 (GRCm39) missense probably damaging 1.00
R3739:Itgbl1 UTSW 14 124,204,090 (GRCm39) missense probably damaging 1.00
R3842:Itgbl1 UTSW 14 124,077,977 (GRCm39) missense possibly damaging 0.92
R4434:Itgbl1 UTSW 14 124,209,611 (GRCm39) missense probably damaging 1.00
R4463:Itgbl1 UTSW 14 124,078,080 (GRCm39) missense probably damaging 0.97
R4696:Itgbl1 UTSW 14 124,204,120 (GRCm39) missense probably damaging 1.00
R4937:Itgbl1 UTSW 14 124,210,780 (GRCm39) missense probably benign 0.12
R5087:Itgbl1 UTSW 14 124,204,151 (GRCm39) missense possibly damaging 0.52
R5747:Itgbl1 UTSW 14 124,209,576 (GRCm39) nonsense probably null
R6020:Itgbl1 UTSW 14 124,083,977 (GRCm39) missense probably damaging 0.99
R6169:Itgbl1 UTSW 14 123,897,790 (GRCm39) missense probably benign 0.17
R6758:Itgbl1 UTSW 14 124,094,901 (GRCm39) missense probably benign 0.23
R7213:Itgbl1 UTSW 14 124,210,709 (GRCm39) missense probably damaging 1.00
R7259:Itgbl1 UTSW 14 124,081,316 (GRCm39) missense probably damaging 0.96
R7378:Itgbl1 UTSW 14 124,094,901 (GRCm39) missense probably benign 0.23
R7461:Itgbl1 UTSW 14 124,065,211 (GRCm39) missense possibly damaging 0.88
R7664:Itgbl1 UTSW 14 124,083,962 (GRCm39) missense probably damaging 1.00
R7841:Itgbl1 UTSW 14 124,209,645 (GRCm39) critical splice donor site probably null
R7925:Itgbl1 UTSW 14 124,210,735 (GRCm39) missense possibly damaging 0.68
R8115:Itgbl1 UTSW 14 124,094,955 (GRCm39) missense probably damaging 1.00
R8260:Itgbl1 UTSW 14 124,065,246 (GRCm39) missense probably benign 0.00
R8778:Itgbl1 UTSW 14 124,078,075 (GRCm39) missense probably benign 0.01
R8978:Itgbl1 UTSW 14 124,209,617 (GRCm39) missense probably damaging 1.00
R9186:Itgbl1 UTSW 14 124,094,970 (GRCm39) missense probably benign
V1024:Itgbl1 UTSW 14 124,210,699 (GRCm39) missense probably damaging 1.00
X0012:Itgbl1 UTSW 14 123,898,717 (GRCm39) missense probably benign 0.01
X0017:Itgbl1 UTSW 14 124,209,623 (GRCm39) missense possibly damaging 0.81
Z1176:Itgbl1 UTSW 14 124,192,084 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07