Incidental Mutation 'IGL01404:Lins1'
ID278383
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lins1
Ensembl Gene ENSMUSG00000053091
Gene Namelines homolog 1
SynonymsWins2, Lins, 2700083B01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01404
Quality Score
Status
Chromosome7
Chromosomal Location66689889-66717256 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 66713928 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 524 (V524I)
Ref Sequence ENSEMBL: ENSMUSP00000112404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065323] [ENSMUST00000077967] [ENSMUST00000121777] [ENSMUST00000130161] [ENSMUST00000133771] [ENSMUST00000153773]
Predicted Effect probably benign
Transcript: ENSMUST00000065323
Predicted Effect possibly damaging
Transcript: ENSMUST00000077967
AA Change: V519I

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000077117
Gene: ENSMUSG00000053091
AA Change: V519I

DomainStartEndE-ValueType
Pfam:LINES_N 204 554 1.6e-119 PFAM
low complexity region 641 652 N/A INTRINSIC
low complexity region 684 699 N/A INTRINSIC
Pfam:LINES_C 717 755 5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121777
AA Change: V524I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112404
Gene: ENSMUSG00000053091
AA Change: V524I

DomainStartEndE-ValueType
Pfam:LINES_N 210 558 9.5e-150 PFAM
low complexity region 646 657 N/A INTRINSIC
low complexity region 689 704 N/A INTRINSIC
Pfam:LINES_C 723 759 2.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128486
Predicted Effect probably benign
Transcript: ENSMUST00000130161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132181
Predicted Effect probably benign
Transcript: ENSMUST00000132351
SMART Domains Protein: ENSMUSP00000115180
Gene: ENSMUSG00000053091

DomainStartEndE-ValueType
Pfam:LINES_N 155 244 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133199
SMART Domains Protein: ENSMUSP00000115124
Gene: ENSMUSG00000053091

DomainStartEndE-ValueType
Pfam:LINES_N 1 220 3.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133771
Predicted Effect probably benign
Transcript: ENSMUST00000153773
SMART Domains Protein: ENSMUSP00000119187
Gene: ENSMUSG00000053091

DomainStartEndE-ValueType
Pfam:LINES_N 75 229 1.3e-40 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,164,378 probably null Het
4921524L21Rik T C 18: 6,638,653 S351P possibly damaging Het
Ablim3 A G 18: 61,871,683 Y12H probably damaging Het
Adam2 C T 14: 66,077,210 probably null Het
Adgre4 A T 17: 55,797,639 N235I possibly damaging Het
Aldh3b1 A C 19: 3,921,205 V153G probably benign Het
B430306N03Rik A G 17: 48,321,073 Y177C probably damaging Het
Cast A T 13: 74,738,287 Y249* probably null Het
Cfap43 T C 19: 47,795,666 D476G probably benign Het
Cpa4 T C 6: 30,581,702 I216T possibly damaging Het
Cpeb3 T C 19: 37,088,548 D407G probably benign Het
Ctnnal1 T C 4: 56,829,590 D413G probably damaging Het
Cyb5a A G 18: 84,877,860 S84G probably benign Het
Dpy19l4 C A 4: 11,273,006 probably null Het
Erbin A T 13: 103,839,464 S641T probably damaging Het
Espn T A 4: 152,138,444 T326S probably benign Het
Extl1 T C 4: 134,359,203 M514V probably benign Het
Fancc G A 13: 63,361,638 L134F probably damaging Het
Fis1 C T 5: 136,965,974 A90V probably benign Het
Gdi2 A G 13: 3,564,611 T319A probably benign Het
Gjc3 A G 5: 137,957,858 F55S probably damaging Het
Gm10762 C T 2: 128,967,085 probably benign Het
Got1 A G 19: 43,504,609 I291T possibly damaging Het
Gpr179 C A 11: 97,338,186 G1048* probably null Het
Ino80 T A 2: 119,456,718 D56V possibly damaging Het
Kcp C A 6: 29,496,639 C624F probably damaging Het
Kctd1 T A 18: 14,969,553 Q857L probably damaging Het
Lrp1 A T 10: 127,595,032 Y383N probably damaging Het
Mgam A C 6: 40,644,945 K84Q probably benign Het
Mib2 T A 4: 155,654,936 E862V probably damaging Het
Myh1 G T 11: 67,222,151 R1827L possibly damaging Het
Myh10 T C 11: 68,752,040 probably null Het
Myo1e A G 9: 70,337,766 Y382C probably benign Het
Nktr G A 9: 121,741,152 probably null Het
Nlrc4 A G 17: 74,445,711 I559T probably damaging Het
Nod2 A T 8: 88,663,736 M224L probably benign Het
Olfr175-ps1 G A 16: 58,824,595 T38I probably damaging Het
Olfr658 A T 7: 104,644,480 Y295* probably null Het
Olfr984 A G 9: 40,101,262 I76T probably benign Het
Pex7 G T 10: 19,894,811 probably benign Het
Ptprb A T 10: 116,339,436 D1112V probably benign Het
Rubcn G A 16: 32,827,296 T636M probably damaging Het
Scn5a A C 9: 119,486,470 L1724R probably damaging Het
Sec14l2 T C 11: 4,116,710 D34G possibly damaging Het
Serpina3k A G 12: 104,340,623 D38G probably benign Het
Sh3bgr A C 16: 96,206,490 K18N probably damaging Het
Sh3bp5l A T 11: 58,346,060 H281L probably benign Het
Slc28a2 T G 2: 122,452,057 I287M probably damaging Het
Slc2a1 T A 4: 119,132,238 M45K possibly damaging Het
Syt11 A G 3: 88,762,216 I123T probably benign Het
Tfg C A 16: 56,694,493 probably benign Het
Tmem177 T C 1: 119,910,061 D296G probably damaging Het
Trabd2b A G 4: 114,599,956 I357V probably benign Het
Trp63 C A 16: 25,820,385 probably benign Het
Ugt1a8 T C 1: 88,087,895 L10P probably benign Het
Vmn2r103 A G 17: 19,812,434 I823M probably damaging Het
Vmn2r45 T C 7: 8,481,468 N446S probably damaging Het
Vps13c A T 9: 67,913,204 probably null Het
Vwa3b C T 1: 37,154,036 T11I probably benign Het
Vwf A C 6: 125,677,970 Q2543P probably damaging Het
Yap1 G A 9: 7,934,741 probably benign Het
Zfp282 A C 6: 47,897,836 D325A probably damaging Het
Zfyve9 T G 4: 108,682,151 Y975S probably damaging Het
Other mutations in Lins1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Lins1 APN 7 66714531 nonsense probably null
IGL01402:Lins1 APN 7 66713928 missense probably damaging 0.99
IGL01887:Lins1 APN 7 66710381 missense probably damaging 0.98
IGL02887:Lins1 APN 7 66714183 missense probably damaging 0.99
R0089:Lins1 UTSW 7 66712048 unclassified probably benign
R1473:Lins1 UTSW 7 66712046 critical splice donor site probably null
R1556:Lins1 UTSW 7 66710637 nonsense probably null
R1580:Lins1 UTSW 7 66714491 missense probably benign 0.10
R1794:Lins1 UTSW 7 66711909 missense probably damaging 1.00
R1848:Lins1 UTSW 7 66714322 missense probably damaging 0.98
R3969:Lins1 UTSW 7 66708198 missense probably benign 0.31
R4760:Lins1 UTSW 7 66714687 unclassified probably benign
R4766:Lins1 UTSW 7 66710641 missense possibly damaging 0.92
R4811:Lins1 UTSW 7 66708150 missense probably benign 0.00
R4941:Lins1 UTSW 7 66709450 splice site probably benign
R5419:Lins1 UTSW 7 66708095 unclassified probably benign
R6140:Lins1 UTSW 7 66711924 missense probably damaging 1.00
R6258:Lins1 UTSW 7 66710748 critical splice donor site probably null
R6713:Lins1 UTSW 7 66708482 missense probably benign 0.00
R6787:Lins1 UTSW 7 66714154 missense probably benign 0.32
R7176:Lins1 UTSW 7 66713805 missense probably benign 0.10
R7455:Lins1 UTSW 7 66711944 missense probably benign 0.14
R7761:Lins1 UTSW 7 66714105 nonsense probably null
Z1176:Lins1 UTSW 7 66710264 missense possibly damaging 0.54
Posted On2015-04-16