Incidental Mutation 'R6799:Dscaml1'
ID 533211
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 044912-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R6799 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45361881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 214 (V214I)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592] [ENSMUST00000213919] [ENSMUST00000217538]
AlphaFold Q4VA61
Predicted Effect probably benign
Transcript: ENSMUST00000034592
AA Change: V214I

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: V214I

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 silent
Transcript: ENSMUST00000213919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217335
Predicted Effect silent
Transcript: ENSMUST00000217538
Meta Mutation Damage Score 0.1373 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.6%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A T 5: 144,981,624 (GRCm39) Y153F probably damaging Het
Abcb1b T A 5: 8,862,656 (GRCm39) Y113N probably damaging Het
Albfm1 A G 5: 90,727,474 (GRCm39) H364R probably damaging Het
Anapc1 C G 2: 128,501,657 (GRCm39) R795T probably null Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Arhgap26 A G 18: 39,232,660 (GRCm39) N96D probably damaging Het
Asxl3 G T 18: 22,598,457 (GRCm39) E191* probably null Het
Cc2d2b A G 19: 40,779,652 (GRCm39) E697G possibly damaging Het
Chaf1a A T 17: 56,354,059 (GRCm39) I110F unknown Het
Clca4b A T 3: 144,621,388 (GRCm39) probably null Het
Dagla C A 19: 10,234,214 (GRCm39) V366L probably damaging Het
Dapk1 A G 13: 60,900,049 (GRCm39) N878S probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dhx38 A G 8: 110,279,834 (GRCm39) L952P probably damaging Het
Drosha T A 15: 12,912,623 (GRCm39) Y1080* probably null Het
Dtymk A G 1: 93,726,214 (GRCm39) L15P probably benign Het
E330034G19Rik A G 14: 24,346,178 (GRCm39) M30V probably benign Het
Egfr G A 11: 16,846,952 (GRCm39) C783Y probably damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw24 T A 9: 109,453,998 (GRCm39) R49S probably damaging Het
Fcsk T C 8: 111,620,050 (GRCm39) M276V probably benign Het
Gm8797 A T 3: 5,816,027 (GRCm39) T22S probably benign Het
Hao1 T C 2: 134,372,685 (GRCm39) S108G probably damaging Het
Hdac4 C A 1: 91,929,935 (GRCm39) A184S probably damaging Het
Hikeshi T A 7: 89,579,553 (GRCm39) probably benign Het
Hivep2 C T 10: 14,004,757 (GRCm39) R452C probably benign Het
Hsdl1 T C 8: 120,293,169 (GRCm39) S68G probably benign Het
Kctd20 T C 17: 29,182,351 (GRCm39) probably null Het
Klf11 T C 12: 24,705,638 (GRCm39) V364A possibly damaging Het
Kpna6 A G 4: 129,551,247 (GRCm39) L86P probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lpin1 T A 12: 16,611,045 (GRCm39) N516Y probably damaging Het
Lrp2 T C 2: 69,314,248 (GRCm39) Y2161C probably damaging Het
Lrrtm3 A T 10: 63,923,630 (GRCm39) C512* probably null Het
Mfsd1 T C 3: 67,507,314 (GRCm39) I405T probably damaging Het
Msc T G 1: 14,825,491 (GRCm39) D161A probably damaging Het
Mttp T C 3: 137,800,841 (GRCm39) I755V probably benign Het
Ncam1 T C 9: 49,419,911 (GRCm39) T803A probably damaging Het
Nlrp14 A G 7: 106,795,346 (GRCm39) I210V probably benign Het
Npat A T 9: 53,462,930 (GRCm39) H108L probably benign Het
Nt5dc1 A G 10: 34,189,703 (GRCm39) I329T possibly damaging Het
Or10v5 T A 19: 11,806,178 (GRCm39) I71F possibly damaging Het
Or51q1c T A 7: 103,648,006 (GRCm39) probably null Het
Or8b35 T C 9: 37,904,478 (GRCm39) L230P possibly damaging Het
Parm1 C T 5: 91,742,070 (GRCm39) T146I possibly damaging Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pias1 G T 9: 62,789,334 (GRCm39) S624R probably benign Het
Ppif A G 14: 25,696,488 (GRCm39) H95R probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Psg20 A G 7: 18,418,345 (GRCm39) Y141H probably benign Het
Pygm A T 19: 6,448,157 (GRCm39) Y733F probably damaging Het
Rcc1l A T 5: 134,205,552 (GRCm39) M1K probably null Het
Rfpl4b T C 10: 38,697,341 (GRCm39) K87E possibly damaging Het
Rnf113a1 A C X: 36,455,840 (GRCm39) T266P probably benign Het
Scn5a A C 9: 119,324,688 (GRCm39) I1380S possibly damaging Het
Sel1l A G 12: 91,781,742 (GRCm39) probably null Het
Slc18a1 T A 8: 69,493,633 (GRCm39) I400L probably benign Het
Slc30a3 A G 5: 31,246,958 (GRCm39) S73P probably damaging Het
Slc9a5 A T 8: 106,090,600 (GRCm39) N685I possibly damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trdmt1 A G 2: 13,520,824 (GRCm39) probably null Het
Ttyh1 G T 7: 4,136,221 (GRCm39) probably null Het
Tyms A T 5: 30,266,069 (GRCm39) D283E probably benign Het
Vmn2r110 T A 17: 20,803,798 (GRCm39) Y259F probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r88 C A 14: 51,651,426 (GRCm39) Q255K probably benign Het
Vmn2r95 C T 17: 18,659,555 (GRCm39) P100S probably damaging Het
Zfp128 A T 7: 12,624,826 (GRCm39) H398L possibly damaging Het
Other mutations in Dscaml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dscaml1 APN 9 45,581,498 (GRCm39) nonsense probably null
IGL00497:Dscaml1 APN 9 45,663,536 (GRCm39) missense probably damaging 1.00
IGL00895:Dscaml1 APN 9 45,662,551 (GRCm39) missense probably damaging 0.99
IGL01011:Dscaml1 APN 9 45,594,970 (GRCm39) missense possibly damaging 0.76
IGL01086:Dscaml1 APN 9 45,613,960 (GRCm39) splice site probably benign
IGL01125:Dscaml1 APN 9 45,660,930 (GRCm39) critical splice acceptor site probably null
IGL01132:Dscaml1 APN 9 45,663,626 (GRCm39) nonsense probably null
IGL01356:Dscaml1 APN 9 45,658,155 (GRCm39) missense probably benign 0.03
IGL01459:Dscaml1 APN 9 45,653,981 (GRCm39) nonsense probably null
IGL01552:Dscaml1 APN 9 45,359,206 (GRCm39) missense probably damaging 1.00
IGL02033:Dscaml1 APN 9 45,595,080 (GRCm39) missense probably damaging 1.00
IGL02044:Dscaml1 APN 9 45,658,241 (GRCm39) nonsense probably null
IGL02095:Dscaml1 APN 9 45,359,001 (GRCm39) missense probably damaging 1.00
IGL02166:Dscaml1 APN 9 45,594,999 (GRCm39) missense probably damaging 0.98
IGL02262:Dscaml1 APN 9 45,643,378 (GRCm39) missense probably benign 0.44
IGL02262:Dscaml1 APN 9 45,656,414 (GRCm39) missense probably benign
IGL02340:Dscaml1 APN 9 45,581,474 (GRCm39) missense possibly damaging 0.66
IGL02604:Dscaml1 APN 9 45,655,626 (GRCm39) unclassified probably benign
IGL02619:Dscaml1 APN 9 45,359,094 (GRCm39) missense probably damaging 1.00
IGL02805:Dscaml1 APN 9 45,359,195 (GRCm39) missense probably damaging 0.98
IGL03409:Dscaml1 APN 9 45,581,401 (GRCm39) missense probably damaging 1.00
D3080:Dscaml1 UTSW 9 45,595,623 (GRCm39) missense probably benign 0.44
IGL03050:Dscaml1 UTSW 9 45,654,297 (GRCm39) missense probably damaging 1.00
R0149:Dscaml1 UTSW 9 45,653,978 (GRCm39) nonsense probably null
R0582:Dscaml1 UTSW 9 45,579,562 (GRCm39) missense possibly damaging 0.77
R0629:Dscaml1 UTSW 9 45,632,716 (GRCm39) missense probably damaging 0.98
R0632:Dscaml1 UTSW 9 45,643,432 (GRCm39) missense probably benign 0.06
R0815:Dscaml1 UTSW 9 45,656,372 (GRCm39) missense probably benign 0.00
R1162:Dscaml1 UTSW 9 45,663,647 (GRCm39) splice site probably benign
R1449:Dscaml1 UTSW 9 45,653,521 (GRCm39) missense possibly damaging 0.95
R1474:Dscaml1 UTSW 9 45,596,519 (GRCm39) missense probably damaging 1.00
R1481:Dscaml1 UTSW 9 45,583,941 (GRCm39) missense probably benign 0.01
R1533:Dscaml1 UTSW 9 45,361,882 (GRCm39) missense probably damaging 0.99
R1542:Dscaml1 UTSW 9 45,660,738 (GRCm39) missense possibly damaging 0.84
R1572:Dscaml1 UTSW 9 45,632,631 (GRCm39) missense probably benign 0.00
R1627:Dscaml1 UTSW 9 45,664,445 (GRCm39) missense probably damaging 1.00
R1634:Dscaml1 UTSW 9 45,584,047 (GRCm39) missense probably damaging 1.00
R1713:Dscaml1 UTSW 9 45,663,988 (GRCm39) missense possibly damaging 0.49
R1777:Dscaml1 UTSW 9 45,595,054 (GRCm39) missense possibly damaging 0.58
R1812:Dscaml1 UTSW 9 45,662,584 (GRCm39) critical splice donor site probably null
R1834:Dscaml1 UTSW 9 45,594,930 (GRCm39) missense probably benign 0.00
R1907:Dscaml1 UTSW 9 45,651,778 (GRCm39) missense probably damaging 1.00
R1953:Dscaml1 UTSW 9 45,581,522 (GRCm39) missense probably benign 0.01
R2056:Dscaml1 UTSW 9 45,661,430 (GRCm39) missense probably damaging 0.99
R2193:Dscaml1 UTSW 9 45,596,532 (GRCm39) missense probably benign 0.21
R2497:Dscaml1 UTSW 9 45,656,376 (GRCm39) missense probably benign 0.00
R3768:Dscaml1 UTSW 9 45,643,435 (GRCm39) missense possibly damaging 0.94
R3891:Dscaml1 UTSW 9 45,628,782 (GRCm39) missense possibly damaging 0.84
R4110:Dscaml1 UTSW 9 45,643,366 (GRCm39) missense probably benign 0.07
R4706:Dscaml1 UTSW 9 45,361,878 (GRCm39) missense probably damaging 1.00
R4716:Dscaml1 UTSW 9 45,361,890 (GRCm39) missense probably damaging 1.00
R4719:Dscaml1 UTSW 9 45,583,993 (GRCm39) missense probably benign 0.13
R4770:Dscaml1 UTSW 9 45,581,404 (GRCm39) missense probably damaging 1.00
R4924:Dscaml1 UTSW 9 45,656,487 (GRCm39) missense probably damaging 1.00
R5167:Dscaml1 UTSW 9 45,628,730 (GRCm39) missense probably damaging 1.00
R5346:Dscaml1 UTSW 9 45,361,857 (GRCm39) missense possibly damaging 0.63
R5737:Dscaml1 UTSW 9 45,656,483 (GRCm39) missense probably damaging 0.99
R5977:Dscaml1 UTSW 9 45,632,596 (GRCm39) missense probably benign 0.19
R6073:Dscaml1 UTSW 9 45,361,881 (GRCm39) missense probably benign 0.22
R6276:Dscaml1 UTSW 9 45,579,458 (GRCm39) missense possibly damaging 0.62
R6415:Dscaml1 UTSW 9 45,594,975 (GRCm39) nonsense probably null
R6527:Dscaml1 UTSW 9 45,623,482 (GRCm39) nonsense probably null
R6582:Dscaml1 UTSW 9 45,664,104 (GRCm39) missense probably benign 0.00
R6655:Dscaml1 UTSW 9 45,658,235 (GRCm39) missense probably benign 0.00
R6772:Dscaml1 UTSW 9 45,621,609 (GRCm39) missense probably damaging 1.00
R6892:Dscaml1 UTSW 9 45,595,128 (GRCm39) missense probably damaging 0.99
R6918:Dscaml1 UTSW 9 45,341,805 (GRCm39) missense probably benign
R6967:Dscaml1 UTSW 9 45,585,821 (GRCm39) missense probably damaging 0.97
R7214:Dscaml1 UTSW 9 45,581,437 (GRCm39) missense probably benign 0.01
R7286:Dscaml1 UTSW 9 45,654,044 (GRCm39) critical splice donor site probably null
R7315:Dscaml1 UTSW 9 45,656,423 (GRCm39) missense probably benign 0.00
R7338:Dscaml1 UTSW 9 45,585,802 (GRCm39) missense probably benign 0.12
R7343:Dscaml1 UTSW 9 45,664,214 (GRCm39) missense probably benign
R7395:Dscaml1 UTSW 9 45,613,703 (GRCm39) missense possibly damaging 0.73
R7439:Dscaml1 UTSW 9 45,621,624 (GRCm39) missense possibly damaging 0.94
R7484:Dscaml1 UTSW 9 45,660,744 (GRCm39) splice site probably null
R7545:Dscaml1 UTSW 9 45,596,681 (GRCm39) missense probably benign 0.11
R7979:Dscaml1 UTSW 9 45,595,029 (GRCm39) missense probably damaging 1.00
R8005:Dscaml1 UTSW 9 45,628,808 (GRCm39) missense probably damaging 1.00
R8181:Dscaml1 UTSW 9 45,658,140 (GRCm39) missense possibly damaging 0.86
R8262:Dscaml1 UTSW 9 45,658,438 (GRCm39) intron probably benign
R8428:Dscaml1 UTSW 9 45,653,884 (GRCm39) missense probably benign 0.00
R8725:Dscaml1 UTSW 9 45,341,759 (GRCm39) missense probably benign 0.00
R8727:Dscaml1 UTSW 9 45,341,759 (GRCm39) missense probably benign 0.00
R8796:Dscaml1 UTSW 9 45,359,026 (GRCm39) missense probably damaging 0.99
R8840:Dscaml1 UTSW 9 45,634,718 (GRCm39) missense probably damaging 0.99
R9291:Dscaml1 UTSW 9 45,359,251 (GRCm39) missense probably damaging 1.00
R9394:Dscaml1 UTSW 9 45,661,354 (GRCm39) missense possibly damaging 0.64
R9610:Dscaml1 UTSW 9 45,579,522 (GRCm39) missense possibly damaging 0.95
R9611:Dscaml1 UTSW 9 45,579,522 (GRCm39) missense possibly damaging 0.95
R9653:Dscaml1 UTSW 9 45,643,466 (GRCm39) critical splice donor site probably null
R9699:Dscaml1 UTSW 9 45,654,315 (GRCm39) missense probably damaging 0.97
X0058:Dscaml1 UTSW 9 45,663,426 (GRCm39) missense probably benign 0.00
Z1177:Dscaml1 UTSW 9 45,584,089 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAGACCCACACTGTTGTTAGTTCG -3'
(R):5'- ACGGAGCAGCAGCATATCAG -3'

Sequencing Primer
(F):5'- TCGAGCGATGATCACTGTGC -3'
(R):5'- GCATATCAGTCCCTAAAGCCATTG -3'
Posted On 2018-09-12