Incidental Mutation 'IGL01011:Dscaml1'
ID 53756
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
Accession Numbers

Genbank: NM_001081270; MGI: 2150309

Is this an essential gene? Possibly essential (E-score: 0.608) question?
Stock # IGL01011
Quality Score
Status
Chromosome 9
Chromosomal Location 45426628-45753712 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45683672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 691 (D691G)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592]
AlphaFold Q4VA61
Predicted Effect possibly damaging
Transcript: ENSMUST00000034592
AA Change: D691G

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: D691G

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 28 55 N/A INTRINSIC
IG_like 96 168 1.22e0 SMART
IG 189 277 1.15e-3 SMART
IGc2 296 359 2.54e-14 SMART
IGc2 385 451 8.12e-13 SMART
IGc2 478 550 9.55e-10 SMART
IGc2 575 640 9.78e-7 SMART
IGc2 666 734 5.93e-6 SMART
IGc2 760 832 6.75e-10 SMART
IG 853 943 1e-3 SMART
FN3 945 1029 6.64e-7 SMART
FN3 1045 1133 9.46e-12 SMART
FN3 1148 1234 3.2e-9 SMART
FN3 1249 1332 3.48e-10 SMART
IGc2 1363 1428 1.49e-11 SMART
FN3 1442 1522 3.42e-9 SMART
FN3 1537 1618 2.14e-1 SMART
low complexity region 1671 1683 N/A INTRINSIC
low complexity region 2018 2026 N/A INTRINSIC
low complexity region 2035 2069 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216078
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 is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,258,246 C282S probably damaging Het
Abca12 T C 1: 71,263,632 I2143V probably benign Het
Adgrg6 A C 10: 14,409,798 I1148S probably damaging Het
Aox4 C T 1: 58,240,775 R517* probably null Het
Arnt2 T A 7: 84,285,829 D289V probably benign Het
Atad2b A G 12: 4,965,984 N570S probably benign Het
Aven G A 2: 112,629,785 D208N possibly damaging Het
Bcl9l A G 9: 44,505,179 D183G possibly damaging Het
Cd300lf A G 11: 115,124,333 S144P probably benign Het
Chd8 C A 14: 52,231,532 G543V possibly damaging Het
Chrm2 A G 6: 36,524,438 N410S probably benign Het
Clip4 A G 17: 71,849,939 I590V probably benign Het
Cnbp C T 6: 87,845,700 R27H probably benign Het
Col4a3 T C 1: 82,682,301 V889A unknown Het
Cxcl5 T C 5: 90,760,523 probably benign Het
Dennd6a G T 14: 26,603,054 V171F probably damaging Het
Dhx38 T C 8: 109,562,691 I26V probably benign Het
Etfdh A T 3: 79,612,061 probably benign Het
Fbn2 G A 18: 58,095,240 probably benign Het
Foxp2 T A 6: 15,438,019 *715R probably null Het
Ftl1 A T 7: 45,458,646 D65E probably benign Het
Galm A G 17: 80,183,280 T289A probably benign Het
Gm20721 A G 2: 174,345,738 D1049G probably damaging Het
Gm28778 T C 1: 53,299,118 V47A probably benign Het
Gm5414 T C 15: 101,628,134 S19G probably benign Het
Hdac7 T A 15: 97,793,935 E835D possibly damaging Het
Hist1h1t C T 13: 23,696,049 L62F probably damaging Het
Hspg2 C T 4: 137,559,335 T3663I probably damaging Het
Kdm4d A T 9: 14,464,219 D114E probably benign Het
Kif5a A T 10: 127,239,196 V516E probably benign Het
Lrrtm1 A G 6: 77,244,235 probably null Het
Miga1 G T 3: 152,276,690 T519K probably benign Het
Mtfr1l G A 4: 134,529,200 P182S probably damaging Het
Myo15 A G 11: 60,476,992 I193V probably benign Het
Myo1e T C 9: 70,316,589 probably benign Het
Olfr190 T A 16: 59,074,430 T217S probably benign Het
Olfr376 A T 11: 73,375,007 Q86L probably benign Het
Olfr541 A T 7: 140,704,437 Y62F probably damaging Het
Pias1 T C 9: 62,912,855 T277A probably benign Het
Slamf6 T A 1: 171,938,099 H263Q probably benign Het
Snrnp48 A G 13: 38,220,764 D202G probably damaging Het
Snx13 T A 12: 35,098,280 D269E probably damaging Het
Tiam2 A T 17: 3,415,028 D344V probably benign Het
Tmem62 G T 2: 120,979,219 K127N possibly damaging Het
Trav15-1-dv6-1 C T 14: 53,560,035 T46I possibly damaging Het
Trav16d-dv11 C T 14: 53,047,584 T39M possibly damaging Het
Trio T C 15: 27,736,489 D2794G probably damaging Het
Trpc7 C T 13: 56,804,540 G551D probably damaging Het
Ttc37 G A 13: 76,122,665 C127Y probably damaging Het
Ttn A G 2: 76,814,290 V11294A possibly damaging Het
Ubap2 G A 4: 41,195,328 probably benign Het
Ubap2l G A 3: 90,009,256 Q915* probably null Het
Ubfd1 A G 7: 122,078,472 E340G probably benign Het
Vil1 T C 1: 74,434,887 probably null Het
Vmn1r6 T G 6: 57,002,544 L42V probably benign Het
Vps13c A G 9: 67,926,955 T1635A probably damaging Het
Zfhx3 T A 8: 108,793,594 H449Q probably benign Het
Zfp750 A T 11: 121,513,096 S318T probably benign Het
Other mutations in Dscaml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dscaml1 APN 9 45670200 nonsense probably null
IGL00497:Dscaml1 APN 9 45752238 missense probably damaging 1.00
IGL00895:Dscaml1 APN 9 45751253 missense probably damaging 0.99
IGL01086:Dscaml1 APN 9 45702662 splice site probably benign
IGL01125:Dscaml1 APN 9 45749632 critical splice acceptor site probably null
IGL01132:Dscaml1 APN 9 45752328 nonsense probably null
IGL01356:Dscaml1 APN 9 45746857 missense probably benign 0.03
IGL01459:Dscaml1 APN 9 45742683 nonsense probably null
IGL01552:Dscaml1 APN 9 45447908 missense probably damaging 1.00
IGL02033:Dscaml1 APN 9 45683782 missense probably damaging 1.00
IGL02044:Dscaml1 APN 9 45746943 nonsense probably null
IGL02095:Dscaml1 APN 9 45447703 missense probably damaging 1.00
IGL02166:Dscaml1 APN 9 45683701 missense probably damaging 0.98
IGL02262:Dscaml1 APN 9 45745116 missense probably benign
IGL02262:Dscaml1 APN 9 45732080 missense probably benign 0.44
IGL02340:Dscaml1 APN 9 45670176 missense possibly damaging 0.66
IGL02604:Dscaml1 APN 9 45744328 unclassified probably benign
IGL02619:Dscaml1 APN 9 45447796 missense probably damaging 1.00
IGL02805:Dscaml1 APN 9 45447897 missense probably damaging 0.98
IGL03409:Dscaml1 APN 9 45670103 missense probably damaging 1.00
D3080:Dscaml1 UTSW 9 45684325 missense probably benign 0.44
IGL03050:Dscaml1 UTSW 9 45742999 missense probably damaging 1.00
R0149:Dscaml1 UTSW 9 45742680 nonsense probably null
R0582:Dscaml1 UTSW 9 45668264 missense possibly damaging 0.77
R0629:Dscaml1 UTSW 9 45721418 missense probably damaging 0.98
R0632:Dscaml1 UTSW 9 45732134 missense probably benign 0.06
R0815:Dscaml1 UTSW 9 45745074 missense probably benign 0.00
R1162:Dscaml1 UTSW 9 45752349 splice site probably benign
R1449:Dscaml1 UTSW 9 45742223 missense possibly damaging 0.95
R1474:Dscaml1 UTSW 9 45685221 missense probably damaging 1.00
R1481:Dscaml1 UTSW 9 45672643 missense probably benign 0.01
R1533:Dscaml1 UTSW 9 45450584 missense probably damaging 0.99
R1542:Dscaml1 UTSW 9 45749440 missense possibly damaging 0.84
R1572:Dscaml1 UTSW 9 45721333 missense probably benign 0.00
R1627:Dscaml1 UTSW 9 45753147 missense probably damaging 1.00
R1634:Dscaml1 UTSW 9 45672749 missense probably damaging 1.00
R1713:Dscaml1 UTSW 9 45752690 missense possibly damaging 0.49
R1777:Dscaml1 UTSW 9 45683756 missense possibly damaging 0.58
R1812:Dscaml1 UTSW 9 45751286 critical splice donor site probably null
R1834:Dscaml1 UTSW 9 45683632 missense probably benign 0.00
R1907:Dscaml1 UTSW 9 45740480 missense probably damaging 1.00
R1953:Dscaml1 UTSW 9 45670224 missense probably benign 0.01
R2056:Dscaml1 UTSW 9 45750132 missense probably damaging 0.99
R2193:Dscaml1 UTSW 9 45685234 missense probably benign 0.21
R2497:Dscaml1 UTSW 9 45745078 missense probably benign 0.00
R3768:Dscaml1 UTSW 9 45732137 missense possibly damaging 0.94
R3891:Dscaml1 UTSW 9 45717484 missense possibly damaging 0.84
R4110:Dscaml1 UTSW 9 45732068 missense probably benign 0.07
R4706:Dscaml1 UTSW 9 45450580 missense probably damaging 1.00
R4716:Dscaml1 UTSW 9 45450592 missense probably damaging 1.00
R4719:Dscaml1 UTSW 9 45672695 missense probably benign 0.13
R4770:Dscaml1 UTSW 9 45670106 missense probably damaging 1.00
R4924:Dscaml1 UTSW 9 45745189 missense probably damaging 1.00
R5167:Dscaml1 UTSW 9 45717432 missense probably damaging 1.00
R5346:Dscaml1 UTSW 9 45450559 missense possibly damaging 0.63
R5737:Dscaml1 UTSW 9 45745185 missense probably damaging 0.99
R5977:Dscaml1 UTSW 9 45721298 missense probably benign 0.19
R6073:Dscaml1 UTSW 9 45450583 missense probably benign 0.22
R6276:Dscaml1 UTSW 9 45668160 missense possibly damaging 0.62
R6415:Dscaml1 UTSW 9 45683677 nonsense probably null
R6527:Dscaml1 UTSW 9 45712184 nonsense probably null
R6582:Dscaml1 UTSW 9 45752806 missense probably benign 0.00
R6655:Dscaml1 UTSW 9 45746937 missense probably benign 0.00
R6772:Dscaml1 UTSW 9 45710311 missense probably damaging 1.00
R6799:Dscaml1 UTSW 9 45450583 missense probably benign 0.22
R6892:Dscaml1 UTSW 9 45683830 missense probably damaging 0.99
R6918:Dscaml1 UTSW 9 45430507 missense probably benign
R6967:Dscaml1 UTSW 9 45674523 missense probably damaging 0.97
R7214:Dscaml1 UTSW 9 45670139 missense probably benign 0.01
R7286:Dscaml1 UTSW 9 45742746 critical splice donor site probably null
R7315:Dscaml1 UTSW 9 45745125 missense probably benign 0.00
R7338:Dscaml1 UTSW 9 45674504 missense probably benign 0.12
R7343:Dscaml1 UTSW 9 45752916 missense probably benign
R7395:Dscaml1 UTSW 9 45702405 missense possibly damaging 0.73
R7439:Dscaml1 UTSW 9 45710326 missense possibly damaging 0.94
R7484:Dscaml1 UTSW 9 45749446 splice site probably null
R7545:Dscaml1 UTSW 9 45685383 missense probably benign 0.11
R7979:Dscaml1 UTSW 9 45683731 missense probably damaging 1.00
R8005:Dscaml1 UTSW 9 45717510 missense probably damaging 1.00
R8181:Dscaml1 UTSW 9 45746842 missense possibly damaging 0.86
R8262:Dscaml1 UTSW 9 45747140 intron probably benign
R8428:Dscaml1 UTSW 9 45742586 missense probably benign 0.00
R8725:Dscaml1 UTSW 9 45430461 missense probably benign 0.00
R8727:Dscaml1 UTSW 9 45430461 missense probably benign 0.00
R8796:Dscaml1 UTSW 9 45447728 missense probably damaging 0.99
R8840:Dscaml1 UTSW 9 45723420 missense probably damaging 0.99
R9291:Dscaml1 UTSW 9 45447953 missense probably damaging 1.00
R9394:Dscaml1 UTSW 9 45750056 missense possibly damaging 0.64
R9610:Dscaml1 UTSW 9 45668224 missense possibly damaging 0.95
R9611:Dscaml1 UTSW 9 45668224 missense possibly damaging 0.95
R9653:Dscaml1 UTSW 9 45732168 critical splice donor site probably null
R9699:Dscaml1 UTSW 9 45743017 missense probably damaging 0.97
X0058:Dscaml1 UTSW 9 45752128 missense probably benign 0.00
Z1177:Dscaml1 UTSW 9 45672791 missense probably damaging 0.98
Posted On 2013-06-28