Incidental Mutation 'IGL02734:Itgb4'
ID 305580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itgb4
Ensembl Gene ENSMUSG00000020758
Gene Name integrin beta 4
Synonyms CD104
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02734
Quality Score
Status
Chromosome 11
Chromosomal Location 115865556-115899238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115896792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1470 (R1470L)
Ref Sequence ENSEMBL: ENSMUSP00000127604 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021107] [ENSMUST00000021114] [ENSMUST00000068981] [ENSMUST00000106458] [ENSMUST00000106460] [ENSMUST00000106461] [ENSMUST00000169928]
AlphaFold A2A863
Predicted Effect probably benign
Transcript: ENSMUST00000021107
AA Change: R1470L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758
AA Change: R1470L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 712 1.32e-28 SMART
low complexity region 715 732 N/A INTRINSIC
transmembrane domain 737 756 N/A INTRINSIC
Calx_beta 980 1085 3.13e-35 SMART
FN3 1125 1203 3.15e-8 SMART
FN3 1218 1305 6.29e-8 SMART
low complexity region 1324 1332 N/A INTRINSIC
FN3 1508 1589 1.79e-12 SMART
FN3 1621 1705 1.7e-13 SMART
low complexity region 1738 1751 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021114
SMART Domains Protein: ENSMUSP00000021114
Gene: ENSMUSG00000020766

DomainStartEndE-ValueType
Pfam:GalKase_gal_bdg 18 67 2.6e-24 PFAM
Pfam:GHMP_kinases_N 126 194 7.3e-14 PFAM
Pfam:GHMP_kinases_C 289 374 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068981
SMART Domains Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
FN3 1459 1540 1.79e-12 SMART
FN3 1572 1656 1.7e-13 SMART
low complexity region 1689 1702 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106458
SMART Domains Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
low complexity region 1413 1425 N/A INTRINSIC
FN3 1524 1605 1.79e-12 SMART
FN3 1637 1721 1.7e-13 SMART
low complexity region 1754 1767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106460
AA Change: R1474L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758
AA Change: R1474L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
FN3 1512 1593 1.79e-12 SMART
FN3 1625 1709 1.7e-13 SMART
low complexity region 1742 1755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106461
SMART Domains Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 713 7.06e-29 SMART
low complexity region 716 733 N/A INTRINSIC
transmembrane domain 738 757 N/A INTRINSIC
Calx_beta 981 1086 3.13e-35 SMART
FN3 1129 1207 3.15e-8 SMART
FN3 1222 1309 6.29e-8 SMART
low complexity region 1328 1336 N/A INTRINSIC
low complexity region 1413 1425 N/A INTRINSIC
FN3 1524 1605 1.79e-12 SMART
FN3 1637 1721 1.7e-13 SMART
low complexity region 1754 1767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169928
AA Change: R1470L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758
AA Change: R1470L

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
PSI 30 74 3.89e-1 SMART
INB 38 457 4.23e-213 SMART
VWA 130 361 8.29e-1 SMART
EGF_like 544 576 3.23e1 SMART
Integrin_B_tail 628 712 1.32e-28 SMART
low complexity region 715 732 N/A INTRINSIC
transmembrane domain 737 756 N/A INTRINSIC
Calx_beta 980 1085 3.13e-35 SMART
FN3 1125 1203 3.15e-8 SMART
FN3 1218 1305 6.29e-8 SMART
low complexity region 1324 1332 N/A INTRINSIC
FN3 1508 1589 1.79e-12 SMART
FN3 1621 1705 1.7e-13 SMART
low complexity region 1738 1751 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 T A 4: 144,506,349 (GRCm39) D114V probably damaging Het
Adam26a A G 8: 44,022,812 (GRCm39) V226A probably benign Het
Anapc4 T A 5: 53,018,633 (GRCm39) V525E probably benign Het
Apip C T 2: 102,919,889 (GRCm39) probably benign Het
Bak1 A G 17: 27,239,927 (GRCm39) V203A possibly damaging Het
Bche T A 3: 73,609,409 (GRCm39) T6S probably benign Het
Ceacam5 T A 7: 17,484,737 (GRCm39) V493D probably damaging Het
Cstf3 T A 2: 104,439,539 (GRCm39) probably benign Het
Fam227a A T 15: 79,502,042 (GRCm39) probably benign Het
Fbln1 G T 15: 85,111,182 (GRCm39) C112F probably damaging Het
Gm12695 G A 4: 96,612,267 (GRCm39) R499* probably null Het
Igdcc4 T G 9: 65,038,738 (GRCm39) S887A possibly damaging Het
Kif1a T C 1: 92,990,280 (GRCm39) E480G probably damaging Het
Mgam T A 6: 40,639,628 (GRCm39) F497L probably damaging Het
Or4a74 T C 2: 89,440,303 (GRCm39) I48V probably benign Het
Or5ar1 T G 2: 85,671,883 (GRCm39) D84A possibly damaging Het
Or5t5 T C 2: 86,616,712 (GRCm39) Y213H probably benign Het
Prl7a2 A T 13: 27,843,190 (GRCm39) D204E probably benign Het
Shd A G 17: 56,278,632 (GRCm39) Y65C probably damaging Het
Slc25a39 A G 11: 102,295,349 (GRCm39) V207A probably benign Het
Sptlc2 T C 12: 87,402,444 (GRCm39) T161A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tacc2 G T 7: 130,227,829 (GRCm39) V1505L probably damaging Het
Taf6 T C 5: 138,182,118 (GRCm39) K76E possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Zc3h4 T C 7: 16,157,849 (GRCm39) I353T unknown Het
Other mutations in Itgb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Itgb4 APN 11 115,881,766 (GRCm39) missense probably damaging 1.00
IGL01391:Itgb4 APN 11 115,881,746 (GRCm39) missense probably damaging 1.00
IGL01431:Itgb4 APN 11 115,897,283 (GRCm39) splice site probably benign
IGL01750:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL01752:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL01756:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL01766:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL01769:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL02188:Itgb4 APN 11 115,894,213 (GRCm39) missense probably benign 0.08
IGL02262:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL02293:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL02318:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL02319:Itgb4 APN 11 115,879,752 (GRCm39) missense probably damaging 0.99
IGL02338:Itgb4 APN 11 115,898,795 (GRCm39) missense probably damaging 1.00
IGL02879:Itgb4 APN 11 115,885,178 (GRCm39) missense probably benign 0.05
IGL02889:Itgb4 APN 11 115,879,731 (GRCm39) missense probably damaging 1.00
IGL03183:Itgb4 APN 11 115,879,550 (GRCm39) missense probably damaging 1.00
IGL03054:Itgb4 UTSW 11 115,891,166 (GRCm39) nonsense probably null
R0021:Itgb4 UTSW 11 115,870,453 (GRCm39) missense possibly damaging 0.95
R0092:Itgb4 UTSW 11 115,869,950 (GRCm39) missense probably damaging 1.00
R0305:Itgb4 UTSW 11 115,870,238 (GRCm39) missense probably damaging 1.00
R0408:Itgb4 UTSW 11 115,898,428 (GRCm39) missense probably damaging 0.99
R0465:Itgb4 UTSW 11 115,870,582 (GRCm39) missense probably damaging 1.00
R0499:Itgb4 UTSW 11 115,870,521 (GRCm39) missense probably benign 0.00
R0535:Itgb4 UTSW 11 115,881,835 (GRCm39) missense possibly damaging 0.86
R0571:Itgb4 UTSW 11 115,870,594 (GRCm39) missense possibly damaging 0.94
R0613:Itgb4 UTSW 11 115,884,168 (GRCm39) missense probably damaging 0.98
R0838:Itgb4 UTSW 11 115,888,988 (GRCm39) intron probably benign
R1381:Itgb4 UTSW 11 115,885,163 (GRCm39) missense probably benign 0.00
R1451:Itgb4 UTSW 11 115,881,710 (GRCm39) missense probably damaging 1.00
R1459:Itgb4 UTSW 11 115,869,937 (GRCm39) missense probably benign 0.42
R1460:Itgb4 UTSW 11 115,874,990 (GRCm39) missense probably damaging 0.96
R1473:Itgb4 UTSW 11 115,874,873 (GRCm39) missense probably benign 0.01
R1484:Itgb4 UTSW 11 115,890,625 (GRCm39) missense probably benign 0.01
R1593:Itgb4 UTSW 11 115,871,817 (GRCm39) missense probably damaging 1.00
R1623:Itgb4 UTSW 11 115,882,142 (GRCm39) nonsense probably null
R1633:Itgb4 UTSW 11 115,898,586 (GRCm39) missense probably damaging 1.00
R1642:Itgb4 UTSW 11 115,898,183 (GRCm39) missense probably damaging 1.00
R1669:Itgb4 UTSW 11 115,882,156 (GRCm39) missense probably benign 0.07
R1713:Itgb4 UTSW 11 115,894,315 (GRCm39) missense probably damaging 1.00
R1732:Itgb4 UTSW 11 115,879,744 (GRCm39) missense probably damaging 1.00
R1791:Itgb4 UTSW 11 115,879,346 (GRCm39) missense probably damaging 1.00
R1847:Itgb4 UTSW 11 115,874,590 (GRCm39) missense probably benign 0.31
R1902:Itgb4 UTSW 11 115,871,564 (GRCm39) missense probably damaging 0.98
R1945:Itgb4 UTSW 11 115,884,279 (GRCm39) nonsense probably null
R2102:Itgb4 UTSW 11 115,896,561 (GRCm39) missense probably benign 0.23
R2184:Itgb4 UTSW 11 115,870,450 (GRCm39) missense probably damaging 0.96
R2334:Itgb4 UTSW 11 115,884,261 (GRCm39) missense probably damaging 1.00
R2401:Itgb4 UTSW 11 115,897,389 (GRCm39) missense possibly damaging 0.67
R3743:Itgb4 UTSW 11 115,894,496 (GRCm39) missense probably damaging 1.00
R3938:Itgb4 UTSW 11 115,896,752 (GRCm39) missense possibly damaging 0.92
R4134:Itgb4 UTSW 11 115,897,296 (GRCm39) missense probably benign 0.03
R4280:Itgb4 UTSW 11 115,881,761 (GRCm39) missense probably damaging 1.00
R4342:Itgb4 UTSW 11 115,879,555 (GRCm39) missense probably benign 0.01
R4434:Itgb4 UTSW 11 115,890,640 (GRCm39) missense probably benign 0.10
R4505:Itgb4 UTSW 11 115,874,087 (GRCm39) splice site silent
R4585:Itgb4 UTSW 11 115,884,151 (GRCm39) missense probably damaging 1.00
R4586:Itgb4 UTSW 11 115,884,151 (GRCm39) missense probably damaging 1.00
R4601:Itgb4 UTSW 11 115,896,548 (GRCm39) missense probably damaging 1.00
R4921:Itgb4 UTSW 11 115,897,431 (GRCm39) missense probably benign 0.12
R4962:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5027:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5029:Itgb4 UTSW 11 115,879,417 (GRCm39) intron probably benign
R5084:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5085:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5124:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5125:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5150:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5175:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5176:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5179:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5207:Itgb4 UTSW 11 115,897,365 (GRCm39) missense probably damaging 1.00
R5263:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5264:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5334:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5337:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5344:Itgb4 UTSW 11 115,880,575 (GRCm39) missense probably null 0.92
R5391:Itgb4 UTSW 11 115,875,894 (GRCm39) missense probably benign 0.05
R5437:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5440:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5653:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5654:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5655:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5772:Itgb4 UTSW 11 115,879,258 (GRCm39) intron probably benign
R5812:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5813:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5814:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5863:Itgb4 UTSW 11 115,881,748 (GRCm39) missense probably damaging 1.00
R5864:Itgb4 UTSW 11 115,881,748 (GRCm39) missense probably damaging 1.00
R5865:Itgb4 UTSW 11 115,881,748 (GRCm39) missense probably damaging 1.00
R5951:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5954:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R5982:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6043:Itgb4 UTSW 11 115,870,212 (GRCm39) missense probably benign 0.30
R6133:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6134:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6135:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6169:Itgb4 UTSW 11 115,885,102 (GRCm39) missense probably damaging 0.98
R6172:Itgb4 UTSW 11 115,891,237 (GRCm39) missense probably benign 0.23
R6255:Itgb4 UTSW 11 115,888,963 (GRCm39) missense possibly damaging 0.83
R6258:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6259:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6260:Itgb4 UTSW 11 115,874,983 (GRCm39) missense probably benign 0.00
R6612:Itgb4 UTSW 11 115,874,897 (GRCm39) missense probably benign 0.00
R7037:Itgb4 UTSW 11 115,896,391 (GRCm39) nonsense probably null
R7371:Itgb4 UTSW 11 115,888,906 (GRCm39) missense probably benign 0.29
R7605:Itgb4 UTSW 11 115,897,302 (GRCm39) missense probably benign 0.01
R7659:Itgb4 UTSW 11 115,870,557 (GRCm39) missense probably damaging 1.00
R7759:Itgb4 UTSW 11 115,894,536 (GRCm39) missense possibly damaging 0.92
R7804:Itgb4 UTSW 11 115,894,510 (GRCm39) missense probably damaging 1.00
R7832:Itgb4 UTSW 11 115,891,087 (GRCm39) missense probably damaging 1.00
R7842:Itgb4 UTSW 11 115,873,531 (GRCm39) missense probably benign 0.18
R7923:Itgb4 UTSW 11 115,873,525 (GRCm39) critical splice acceptor site probably null
R8004:Itgb4 UTSW 11 115,873,531 (GRCm39) missense probably benign 0.00
R8143:Itgb4 UTSW 11 115,884,255 (GRCm39) missense probably damaging 1.00
R8427:Itgb4 UTSW 11 115,882,544 (GRCm39) critical splice donor site probably null
R8857:Itgb4 UTSW 11 115,871,853 (GRCm39) missense probably benign 0.04
R8863:Itgb4 UTSW 11 115,875,898 (GRCm39) nonsense probably null
R8932:Itgb4 UTSW 11 115,879,295 (GRCm39) missense probably benign 0.01
R9153:Itgb4 UTSW 11 115,874,879 (GRCm39) missense probably benign 0.00
R9207:Itgb4 UTSW 11 115,897,923 (GRCm39) missense probably damaging 1.00
R9239:Itgb4 UTSW 11 115,898,130 (GRCm39) missense probably damaging 1.00
R9267:Itgb4 UTSW 11 115,870,465 (GRCm39) missense probably benign
R9289:Itgb4 UTSW 11 115,885,187 (GRCm39) missense probably benign 0.01
R9328:Itgb4 UTSW 11 115,880,625 (GRCm39) missense probably benign 0.00
R9435:Itgb4 UTSW 11 115,895,855 (GRCm39) missense probably benign 0.01
R9450:Itgb4 UTSW 11 115,874,097 (GRCm39) missense probably damaging 1.00
R9649:Itgb4 UTSW 11 115,885,171 (GRCm39) missense possibly damaging 0.78
R9779:Itgb4 UTSW 11 115,882,485 (GRCm39) missense probably damaging 1.00
X0062:Itgb4 UTSW 11 115,884,278 (GRCm39) missense probably damaging 1.00
Z1176:Itgb4 UTSW 11 115,897,346 (GRCm39) missense probably damaging 1.00
Z1177:Itgb4 UTSW 11 115,888,884 (GRCm39) missense probably benign 0.00
Z1177:Itgb4 UTSW 11 115,877,637 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16