Incidental Mutation 'R7213:Itgbl1'
ID 561248
Institutional Source Beutler Lab
Gene Symbol Itgbl1
Ensembl Gene ENSMUSG00000032925
Gene Name integrin, beta-like 1
Synonyms with EGF-like repeat domains, B930011D01Rik
MMRRC Submission 045341-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7213 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 123897383-124213030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 124210709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 469 (C469Y)
Ref Sequence ENSEMBL: ENSMUSP00000059019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026631] [ENSMUST00000049681] [ENSMUST00000095529] [ENSMUST00000132026] [ENSMUST00000142161]
AlphaFold Q8VDV0
Predicted Effect probably benign
Transcript: ENSMUST00000026631
SMART Domains Protein: ENSMUSP00000026631
Gene: ENSMUSG00000025551

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
FGF 69 200 1.75e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000049681
AA Change: C469Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: C469Y

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 benign
Transcript: ENSMUST00000095529
SMART Domains Protein: ENSMUSP00000093185
Gene: ENSMUSG00000025551

DomainStartEndE-ValueType
FGF 74 205 1.75e-63 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000132026
AA Change: C345Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: C345Y

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G T 9: 124,056,530 (GRCm39) Y131* probably null Het
2310009B15Rik A T 1: 138,781,367 (GRCm39) V94D probably damaging Het
Actr1b T A 1: 36,741,221 (GRCm39) N120I probably damaging Het
Adam17 A T 12: 21,386,679 (GRCm39) Y452* probably null Het
Adam19 A T 11: 46,012,298 (GRCm39) T265S probably benign Het
Adgrb1 A G 15: 74,441,733 (GRCm39) T945A probably benign Het
Bpifa5 G A 2: 154,007,903 (GRCm39) V182M possibly damaging Het
Celsr3 C T 9: 108,726,239 (GRCm39) T3156I probably damaging Het
Cntrl A G 2: 35,025,692 (GRCm39) M674V possibly damaging Het
Cry2 C T 2: 92,244,004 (GRCm39) V390I probably benign Het
Cspg4b T A 13: 113,454,475 (GRCm39) F174I Het
Cwc25 G T 11: 97,644,855 (GRCm39) Q168K probably benign Het
Dcbld2 C T 16: 58,271,126 (GRCm39) A301V probably benign Het
Dclre1a T C 19: 56,518,067 (GRCm39) Y1004C probably damaging Het
Ddhd1 A C 14: 45,895,210 (GRCm39) S87A probably benign Het
Ear1 A G 14: 44,056,611 (GRCm39) C86R probably damaging Het
Epha5 T C 5: 84,381,782 (GRCm39) probably null Het
Fat2 A T 11: 55,171,871 (GRCm39) Y2947* probably null Het
Fat4 G A 3: 39,053,236 (GRCm39) V4077M possibly damaging Het
Fbxl12 A T 9: 20,550,304 (GRCm39) V140E probably damaging Het
Fbxo16 A G 14: 65,536,868 (GRCm39) probably null Het
Fto A T 8: 92,118,135 (GRCm39) Q29L probably benign Het
Gk5 C T 9: 96,027,765 (GRCm39) T200M probably damaging Het
Gm5916 C T 9: 36,039,946 (GRCm39) G14E possibly damaging Het
Gm9972 A T 11: 42,927,235 (GRCm39) probably benign Het
Gpr139 T A 7: 118,744,322 (GRCm39) M88L probably benign Het
Gpr26 T C 7: 131,569,219 (GRCm39) L188P probably damaging Het
H2ac4 G T 13: 23,935,146 (GRCm39) A11S unknown Het
Hbp1 A T 12: 31,987,196 (GRCm39) S219T probably benign Het
Hr A T 14: 70,795,790 (GRCm39) E445V probably damaging Het
Il12rb1 A G 8: 71,269,097 (GRCm39) K426E probably benign Het
Kdm2b A T 5: 123,059,532 (GRCm39) N523K probably damaging Het
Kptn A G 7: 15,854,704 (GRCm39) N125S possibly damaging Het
Krt17 T C 11: 100,149,356 (GRCm39) N238S probably benign Het
Lemd3 G A 10: 120,814,145 (GRCm39) R363* probably null Het
Mmrn1 G A 6: 60,921,527 (GRCm39) probably benign Het
Mtus1 T C 8: 41,537,524 (GRCm39) D64G probably damaging Het
Muc16 A G 9: 18,552,712 (GRCm39) V4527A probably benign Het
Naip2 T A 13: 100,323,991 (GRCm39) D193V probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nf1 A G 11: 79,360,645 (GRCm39) H1462R probably benign Het
Or2n1b T C 17: 38,459,965 (GRCm39) V162A probably benign Het
Or5ak20 A T 2: 85,183,900 (GRCm39) Y123* probably null Het
Pappa2 T A 1: 158,764,456 (GRCm39) T352S possibly damaging Het
Pcnt A G 10: 76,244,738 (GRCm39) L1114P probably damaging Het
Pde6b T C 5: 108,551,956 (GRCm39) Y212H probably damaging Het
Pik3c2g A T 6: 139,805,990 (GRCm39) I604F Het
Pld2 A G 11: 70,444,198 (GRCm39) D498G probably benign Het
Prag1 A T 8: 36,613,769 (GRCm39) Q1107L probably damaging Het
Pwp1 A T 10: 85,712,173 (GRCm39) I110F probably benign Het
Rims4 C T 2: 163,705,981 (GRCm39) V218I probably benign Het
Rnf10 C T 5: 115,380,532 (GRCm39) S754N probably damaging Het
Rnf10 T C 5: 115,380,533 (GRCm39) S754G probably damaging Het
Sel1l2 A T 2: 140,086,055 (GRCm39) V512E probably damaging Het
Shank2 T A 7: 143,585,146 (GRCm39) M49K probably benign Het
Sipa1 T C 19: 5,710,551 (GRCm39) D153G probably damaging Het
Slc46a2 C T 4: 59,914,279 (GRCm39) V215I possibly damaging Het
Slco6c1 G A 1: 97,055,671 (GRCm39) L77F probably benign Het
Smarca2 T C 19: 26,624,531 (GRCm39) L397P possibly damaging Het
Spg7 C T 8: 123,816,971 (GRCm39) A554V probably damaging Het
Stab1 T A 14: 30,865,630 (GRCm39) M1753L probably benign Het
Stk11 A G 10: 79,952,452 (GRCm39) M1V probably null Het
Supt6 C A 11: 78,122,976 (GRCm39) G136C probably damaging Het
Svil G T 18: 5,094,574 (GRCm39) R1418L probably damaging Het
Tfg A G 16: 56,521,516 (GRCm39) S167P probably benign Het
Timeless T C 10: 128,079,158 (GRCm39) V335A probably benign Het
Tll2 C A 19: 41,108,666 (GRCm39) R328L probably damaging Het
Tomm7 T C 5: 24,049,059 (GRCm39) S5G possibly damaging Het
Ttc39c G A 18: 12,820,138 (GRCm39) probably null Het
Ttn T C 2: 76,556,105 (GRCm39) E30300G probably benign Het
Tuba4a A T 1: 75,192,341 (GRCm39) D452E possibly damaging Het
Tubgcp2 T C 7: 139,587,927 (GRCm39) I233V probably benign Het
Tubgcp5 T A 7: 55,455,860 (GRCm39) V296E probably damaging Het
Vmn2r53 T C 7: 12,334,983 (GRCm39) S226G probably benign Het
Xrcc6 T C 15: 81,901,027 (GRCm39) probably benign Het
Zfhx4 C A 3: 5,461,704 (GRCm39) D1192E probably benign Het
Zfp180 G T 7: 23,803,938 (GRCm39) W119L possibly damaging Het
Zfp3 A G 11: 70,663,351 (GRCm39) I437V probably benign Het
Zfp616 A T 11: 73,976,689 (GRCm39) Q986L probably benign Het
Zfp937 T A 2: 150,081,385 (GRCm39) C472S probably 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
IGL02024:Itgbl1 APN 14 124,094,904 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAACTGTGATATGGGAGCCC -3'
(R):5'- CACAAAAGTCTGTCCTAGTGCTG -3'

Sequencing Primer
(F):5'- GAGCCCAGCTGAGTGATG -3'
(R):5'- CTGTCCTAGTGCTGTGTAATATGC -3'
Posted On 2019-06-26