Incidental Mutation 'R4696:Itgbl1'
ID 355729
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 041946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4696 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 123897383-124213030 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124204120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 404 (C404R)
Ref Sequence ENSEMBL: ENSMUSP00000059019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049681] [ENSMUST00000132026] [ENSMUST00000142161]
AlphaFold Q8VDV0
Predicted Effect probably damaging
Transcript: ENSMUST00000049681
AA Change: C404R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
AA Change: C404R

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: C280R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
AA Change: C280R

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
Meta Mutation Damage Score 0.1987 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,241,817 (GRCm39) S1405G probably benign Het
Acaca T C 11: 84,171,261 (GRCm39) V1165A possibly damaging Het
Acin1 C A 14: 54,880,474 (GRCm39) probably benign Het
Akr1b8 G A 6: 34,340,312 (GRCm39) V159I probably benign Het
Alms1 T C 6: 85,597,504 (GRCm39) Y777H probably damaging Het
Cblc C A 7: 19,530,407 (GRCm39) G101C probably damaging Het
Cdc42ep5 G A 7: 4,154,614 (GRCm39) P58L possibly damaging Het
Cic A G 7: 24,987,908 (GRCm39) N1532S probably benign Het
Cipc T A 12: 86,999,714 (GRCm39) probably benign Het
Clca4b T C 3: 144,617,146 (GRCm39) I835V probably benign Het
Cntrob C T 11: 69,211,714 (GRCm39) G170D probably damaging Het
Col14a1 A G 15: 55,235,998 (GRCm39) Q304R unknown Het
Csmd3 T C 15: 47,777,364 (GRCm39) T1181A probably benign Het
Dchs1 A G 7: 105,413,834 (GRCm39) F994L probably damaging Het
Ddx42 C A 11: 106,138,529 (GRCm39) A776D probably benign Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dmpk A T 7: 18,822,139 (GRCm39) N366Y probably damaging Het
Dmrt1 A G 19: 25,580,674 (GRCm39) Y362C possibly damaging Het
Dock10 C T 1: 80,493,330 (GRCm39) G1880D possibly damaging Het
Dzip1l A G 9: 99,545,664 (GRCm39) R638G possibly damaging Het
Dzip3 T A 16: 48,746,332 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Eno4 T C 19: 58,934,068 (GRCm39) S90P probably damaging Het
Epn2 C G 11: 61,426,129 (GRCm39) A283P probably damaging Het
Eya3 T A 4: 132,397,543 (GRCm39) Y67* probably null Het
Fat2 T C 11: 55,175,841 (GRCm39) N1624S probably benign Het
Fez1 T A 9: 36,781,766 (GRCm39) probably null Het
Fgfr1 T C 8: 26,053,504 (GRCm39) S260P probably damaging Het
Glb1 A G 9: 114,293,220 (GRCm39) S532G probably benign Het
Gm15455 A T 1: 33,876,874 (GRCm39) noncoding transcript Het
Grid2ip A G 5: 143,377,131 (GRCm39) probably benign Het
Guca2b C A 4: 119,513,996 (GRCm39) G129V probably damaging Het
Hes3 T C 4: 152,372,124 (GRCm39) E65G probably damaging Het
Kansl1 C T 11: 104,247,593 (GRCm39) V586I possibly damaging Het
Krt18 A G 15: 101,940,293 (GRCm39) D390G probably benign Het
Laptm5 T C 4: 130,660,982 (GRCm39) probably benign Het
Lgals3bp C T 11: 118,288,977 (GRCm39) E116K probably benign Het
Lrrc39 C T 3: 116,363,769 (GRCm39) S114F probably damaging Het
Mfap3 T C 11: 57,419,117 (GRCm39) probably null Het
Nphp3 A G 9: 103,899,931 (GRCm39) H481R probably benign Het
Ntm T C 9: 29,090,501 (GRCm39) T73A possibly damaging Het
Or5m13b T A 2: 85,749,215 (GRCm39) probably null Het
Or8g4 T A 9: 39,662,024 (GRCm39) M114K probably damaging Het
Pbk G A 14: 66,049,386 (GRCm39) C21Y probably benign Het
Pglyrp1 A G 7: 18,618,871 (GRCm39) E74G probably benign Het
R3hdm1 G T 1: 128,164,503 (GRCm39) probably benign Het
Rap1gds1 T C 3: 138,633,375 (GRCm39) T599A probably damaging Het
Rigi A G 4: 40,203,798 (GRCm39) probably benign Het
Rims1 A T 1: 22,358,836 (GRCm39) M1273K probably damaging Het
Sbf1 G A 15: 89,187,315 (GRCm39) R721* probably null Het
Slc17a1 T C 13: 24,064,700 (GRCm39) I388T probably damaging Het
Sprn A C 7: 139,733,469 (GRCm39) probably benign Het
Tango6 T C 8: 107,426,863 (GRCm39) V459A possibly damaging Het
Tert C T 13: 73,775,939 (GRCm39) T230I probably benign Het
Thada T C 17: 84,733,614 (GRCm39) D1011G possibly damaging Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trip11 A T 12: 101,851,549 (GRCm39) N838K possibly damaging Het
Ttn A G 2: 76,597,997 (GRCm39) W19639R probably damaging Het
Ubr4 T A 4: 139,135,983 (GRCm39) S924T probably benign Het
Upb1 A G 10: 75,250,861 (GRCm39) E110G probably benign Het
Vegfa C T 17: 46,339,272 (GRCm39) probably null Het
Vmn1r231 T C 17: 21,110,901 (GRCm39) K5E possibly damaging Het
Vmn2r16 A T 5: 109,487,168 (GRCm39) I130F probably benign Het
Wscd2 T A 5: 113,689,240 (GRCm39) V82E probably benign Het
Zfp462 A G 4: 55,008,612 (GRCm39) T193A probably benign Het
Zfp467 A G 6: 48,416,291 (GRCm39) probably benign Het
Zfp619 T C 7: 39,186,412 (GRCm39) L814P probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTCTAATGGGAGATGAGGACCTATG -3'
(R):5'- TTGCTGATGCTCTACTTTCAAGG -3'

Sequencing Primer
(F):5'- GAGGACCTATGATTTGCACTTTC -3'
(R):5'- GGTTCACACACAAGCTTAGTGGC -3'
Posted On 2015-10-21