Incidental Mutation 'IGL03323:Lad1'
ID416567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lad1
Ensembl Gene ENSMUSG00000041782
Gene Nameladinin
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL03323
Quality Score
Status
Chromosome1
Chromosomal Location135818598-135833342 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 135830974 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038760]
Predicted Effect probably null
Transcript: ENSMUST00000038760
SMART Domains Protein: ENSMUSP00000044630
Gene: ENSMUSG00000041782

DomainStartEndE-ValueType
low complexity region 16 35 N/A INTRINSIC
low complexity region 88 110 N/A INTRINSIC
low complexity region 365 377 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190773
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Bcl2l15 A T 3: 103,833,403 I62L probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Lad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03259:Lad1 APN 1 135827656 missense probably benign 0.07
R1728:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1728:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1729:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1729:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1730:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1730:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1739:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1739:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1762:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1762:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1783:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1783:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1784:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1784:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1785:Lad1 UTSW 1 135827381 missense possibly damaging 0.90
R1785:Lad1 UTSW 1 135828023 missense probably damaging 1.00
R1837:Lad1 UTSW 1 135829706 missense probably benign 0.00
R1854:Lad1 UTSW 1 135827730 missense probably damaging 0.99
R4066:Lad1 UTSW 1 135827427 missense probably damaging 1.00
R4240:Lad1 UTSW 1 135827295 missense possibly damaging 0.84
R4414:Lad1 UTSW 1 135828746 missense probably benign 0.06
R4415:Lad1 UTSW 1 135828746 missense probably benign 0.06
R4417:Lad1 UTSW 1 135828746 missense probably benign 0.06
R4770:Lad1 UTSW 1 135825793 missense probably damaging 1.00
R6419:Lad1 UTSW 1 135831892 missense possibly damaging 0.86
R6824:Lad1 UTSW 1 135827741 missense probably benign 0.04
R6905:Lad1 UTSW 1 135827880 missense probably benign 0.40
X0024:Lad1 UTSW 1 135830933 missense probably damaging 1.00
Posted On2016-08-02