Incidental Mutation 'R0632:Dscaml1'
ID 59720
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 038821-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # R0632 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45426628-45753712 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45732134 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1284 (I1284F)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592]
AlphaFold Q4VA61
Predicted Effect probably benign
Transcript: ENSMUST00000034592
AA Change: I1284F

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: I1284F

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: ENSMUST00000216685
Meta Mutation Damage Score 0.1820 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 95% (81/85)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a T A 9: 119,347,818 (GRCm38) probably benign Het
Adgrg7 T A 16: 56,742,589 (GRCm38) T462S possibly damaging Het
Akap6 A T 12: 52,937,148 (GRCm38) N825I probably damaging Het
Ankib1 T A 5: 3,772,529 (GRCm38) N59I probably benign Het
Anks6 T C 4: 47,033,167 (GRCm38) S633G possibly damaging Het
Ap4e1 C A 2: 127,049,280 (GRCm38) Y522* probably null Het
Art5 G A 7: 102,097,957 (GRCm38) T205I probably damaging Het
Ascc2 T A 11: 4,649,855 (GRCm38) L176H probably damaging Het
Atp13a5 T C 16: 29,298,208 (GRCm38) D529G probably benign Het
C2cd4a T C 9: 67,831,563 (GRCm38) E66G probably benign Het
C8a T C 4: 104,856,492 (GRCm38) D147G probably damaging Het
Ccdc14 T C 16: 34,721,649 (GRCm38) V532A possibly damaging Het
Ccdc88a T A 11: 29,482,749 (GRCm38) probably benign Het
Cfap54 C T 10: 92,885,096 (GRCm38) E2543K unknown Het
Cldn13 C T 5: 134,914,747 (GRCm38) E195K probably benign Het
Cp A G 3: 19,971,082 (GRCm38) S402G probably null Het
Cpa3 T C 3: 20,225,194 (GRCm38) T194A probably benign Het
Crygf C A 1: 65,927,997 (GRCm38) Y93* probably null Het
Ctsh A G 9: 90,061,582 (GRCm38) R87G possibly damaging Het
Cyp2t4 A G 7: 27,158,246 (GRCm38) D428G possibly damaging Het
Dnah17 C G 11: 118,067,682 (GRCm38) probably benign Het
Dnah3 A G 7: 119,967,905 (GRCm38) V2366A probably benign Het
Dsg1c T C 18: 20,272,346 (GRCm38) probably benign Het
Dst G T 1: 34,271,413 (GRCm38) R4098L probably damaging Het
Efhb A G 17: 53,413,459 (GRCm38) probably benign Het
Epha7 A T 4: 28,821,104 (GRCm38) I90F probably damaging Het
Fam171a2 T A 11: 102,437,881 (GRCm38) D684V probably damaging Het
Fan1 A G 7: 64,363,199 (GRCm38) V665A possibly damaging Het
Fbn2 A G 18: 58,037,747 (GRCm38) C2191R probably damaging Het
Fkbp3 G A 12: 65,073,918 (GRCm38) A2V probably benign Het
G6pd2 A G 5: 61,810,171 (GRCm38) N430D probably benign Het
Gm13547 T A 2: 29,761,584 (GRCm38) D7E possibly damaging Het
H4c9 G T 13: 22,041,027 (GRCm38) Y99* probably null Het
Hdac5 A T 11: 102,205,812 (GRCm38) D260E probably damaging Het
Hsf2bp T C 17: 32,013,346 (GRCm38) E142G probably damaging Het
Igf1r C T 7: 68,165,155 (GRCm38) T268I probably damaging Het
Inava T C 1: 136,227,618 (GRCm38) D83G probably benign Het
Kcne3 C T 7: 100,184,439 (GRCm38) R88C probably damaging Het
Klk1b9 G T 7: 43,979,372 (GRCm38) G100V possibly damaging Het
Kmt2d G A 15: 98,853,581 (GRCm38) probably benign Het
Lama1 C T 17: 67,752,368 (GRCm38) probably benign Het
Lcp2 C T 11: 34,082,426 (GRCm38) P335S possibly damaging Het
Lrrk2 T A 15: 91,796,028 (GRCm38) N2047K probably damaging Het
Mcub T C 3: 129,918,726 (GRCm38) M167V probably benign Het
Mia2 T C 12: 59,136,143 (GRCm38) L36P probably damaging Het
Mmp13 A T 9: 7,282,077 (GRCm38) I460F possibly damaging Het
Mmp13 G A 9: 7,274,032 (GRCm38) G169R probably damaging Het
Msh4 A G 3: 153,896,895 (GRCm38) I232T probably damaging Het
Msra T A 14: 64,210,532 (GRCm38) M145L probably benign Het
Myo7a A T 7: 98,112,150 (GRCm38) probably benign Het
Nme8 A T 13: 19,658,036 (GRCm38) N422K probably damaging Het
Nol6 A T 4: 41,121,115 (GRCm38) F353I probably damaging Het
Nphp3 A G 9: 104,018,274 (GRCm38) K384E probably damaging Het
Or51h5 C T 7: 102,928,604 (GRCm38) probably null Het
Or52e15 A G 7: 104,996,703 (GRCm38) I67T probably benign Het
Or52h7 A G 7: 104,564,337 (GRCm38) I39V probably benign Het
Phox2b T G 5: 67,096,214 (GRCm38) probably benign Het
Plec A T 15: 76,173,411 (GRCm38) S4131T probably damaging Het
Pptc7 G A 5: 122,313,591 (GRCm38) probably benign Het
Pramel31 G A 4: 144,363,782 (GRCm38) C464Y probably damaging Het
Prpf40b A G 15: 99,316,289 (GRCm38) E810G probably benign Het
Ptprc C T 1: 138,073,610 (GRCm38) V965I probably benign Het
Pum1 T A 4: 130,728,104 (GRCm38) M180K probably benign Het
Ranbp3 T C 17: 56,702,896 (GRCm38) probably benign Het
Rasgrf2 A G 13: 91,972,274 (GRCm38) S787P probably benign Het
Rnf19b T A 4: 129,073,551 (GRCm38) N294K probably damaging Het
Samd3 A T 10: 26,244,495 (GRCm38) H156L possibly damaging Het
Serpinb6c C T 13: 33,880,031 (GRCm38) R347Q possibly damaging Het
Slc36a3 A G 11: 55,125,080 (GRCm38) I416T probably damaging Het
Slc4a4 T A 5: 89,129,641 (GRCm38) F279Y probably damaging Het
Slc6a2 T A 8: 92,992,801 (GRCm38) probably benign Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Tab2 A G 10: 7,919,801 (GRCm38) S232P probably benign Het
Tacc2 A T 7: 130,625,595 (GRCm38) K1356* probably null Het
Tmem87a A G 2: 120,359,542 (GRCm38) S544P probably damaging Het
Trim52 T A 14: 106,106,967 (GRCm38) C20S probably damaging Het
Usp38 A T 8: 81,014,150 (GRCm38) V96E probably benign Het
Vmn2r59 T C 7: 42,058,884 (GRCm38) Y33C probably damaging Het
Vsig10l T G 7: 43,464,137 (GRCm38) V171G probably damaging Het
Zfp957 T A 14: 79,212,920 (GRCm38) I480F probably damaging Het
Other mutations in Dscaml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Dscaml1 APN 9 45,670,200 (GRCm38) nonsense probably null
IGL00497:Dscaml1 APN 9 45,752,238 (GRCm38) missense probably damaging 1.00
IGL00895:Dscaml1 APN 9 45,751,253 (GRCm38) missense probably damaging 0.99
IGL01011:Dscaml1 APN 9 45,683,672 (GRCm38) missense possibly damaging 0.76
IGL01086:Dscaml1 APN 9 45,702,662 (GRCm38) splice site probably benign
IGL01125:Dscaml1 APN 9 45,749,632 (GRCm38) critical splice acceptor site probably null
IGL01132:Dscaml1 APN 9 45,752,328 (GRCm38) nonsense probably null
IGL01356:Dscaml1 APN 9 45,746,857 (GRCm38) missense probably benign 0.03
IGL01459:Dscaml1 APN 9 45,742,683 (GRCm38) nonsense probably null
IGL01552:Dscaml1 APN 9 45,447,908 (GRCm38) missense probably damaging 1.00
IGL02033:Dscaml1 APN 9 45,683,782 (GRCm38) missense probably damaging 1.00
IGL02044:Dscaml1 APN 9 45,746,943 (GRCm38) nonsense probably null
IGL02095:Dscaml1 APN 9 45,447,703 (GRCm38) missense probably damaging 1.00
IGL02166:Dscaml1 APN 9 45,683,701 (GRCm38) missense probably damaging 0.98
IGL02262:Dscaml1 APN 9 45,732,080 (GRCm38) missense probably benign 0.44
IGL02262:Dscaml1 APN 9 45,745,116 (GRCm38) missense probably benign
IGL02340:Dscaml1 APN 9 45,670,176 (GRCm38) missense possibly damaging 0.66
IGL02604:Dscaml1 APN 9 45,744,328 (GRCm38) unclassified probably benign
IGL02619:Dscaml1 APN 9 45,447,796 (GRCm38) missense probably damaging 1.00
IGL02805:Dscaml1 APN 9 45,447,897 (GRCm38) missense probably damaging 0.98
IGL03409:Dscaml1 APN 9 45,670,103 (GRCm38) missense probably damaging 1.00
D3080:Dscaml1 UTSW 9 45,684,325 (GRCm38) missense probably benign 0.44
IGL03050:Dscaml1 UTSW 9 45,742,999 (GRCm38) missense probably damaging 1.00
R0149:Dscaml1 UTSW 9 45,742,680 (GRCm38) nonsense probably null
R0582:Dscaml1 UTSW 9 45,668,264 (GRCm38) missense possibly damaging 0.77
R0629:Dscaml1 UTSW 9 45,721,418 (GRCm38) missense probably damaging 0.98
R0815:Dscaml1 UTSW 9 45,745,074 (GRCm38) missense probably benign 0.00
R1162:Dscaml1 UTSW 9 45,752,349 (GRCm38) splice site probably benign
R1449:Dscaml1 UTSW 9 45,742,223 (GRCm38) missense possibly damaging 0.95
R1474:Dscaml1 UTSW 9 45,685,221 (GRCm38) missense probably damaging 1.00
R1481:Dscaml1 UTSW 9 45,672,643 (GRCm38) missense probably benign 0.01
R1533:Dscaml1 UTSW 9 45,450,584 (GRCm38) missense probably damaging 0.99
R1542:Dscaml1 UTSW 9 45,749,440 (GRCm38) missense possibly damaging 0.84
R1572:Dscaml1 UTSW 9 45,721,333 (GRCm38) missense probably benign 0.00
R1627:Dscaml1 UTSW 9 45,753,147 (GRCm38) missense probably damaging 1.00
R1634:Dscaml1 UTSW 9 45,672,749 (GRCm38) missense probably damaging 1.00
R1713:Dscaml1 UTSW 9 45,752,690 (GRCm38) missense possibly damaging 0.49
R1777:Dscaml1 UTSW 9 45,683,756 (GRCm38) missense possibly damaging 0.58
R1812:Dscaml1 UTSW 9 45,751,286 (GRCm38) critical splice donor site probably null
R1834:Dscaml1 UTSW 9 45,683,632 (GRCm38) missense probably benign 0.00
R1907:Dscaml1 UTSW 9 45,740,480 (GRCm38) missense probably damaging 1.00
R1953:Dscaml1 UTSW 9 45,670,224 (GRCm38) missense probably benign 0.01
R2056:Dscaml1 UTSW 9 45,750,132 (GRCm38) missense probably damaging 0.99
R2193:Dscaml1 UTSW 9 45,685,234 (GRCm38) missense probably benign 0.21
R2497:Dscaml1 UTSW 9 45,745,078 (GRCm38) missense probably benign 0.00
R3768:Dscaml1 UTSW 9 45,732,137 (GRCm38) missense possibly damaging 0.94
R3891:Dscaml1 UTSW 9 45,717,484 (GRCm38) missense possibly damaging 0.84
R4110:Dscaml1 UTSW 9 45,732,068 (GRCm38) missense probably benign 0.07
R4706:Dscaml1 UTSW 9 45,450,580 (GRCm38) missense probably damaging 1.00
R4716:Dscaml1 UTSW 9 45,450,592 (GRCm38) missense probably damaging 1.00
R4719:Dscaml1 UTSW 9 45,672,695 (GRCm38) missense probably benign 0.13
R4770:Dscaml1 UTSW 9 45,670,106 (GRCm38) missense probably damaging 1.00
R4924:Dscaml1 UTSW 9 45,745,189 (GRCm38) missense probably damaging 1.00
R5167:Dscaml1 UTSW 9 45,717,432 (GRCm38) missense probably damaging 1.00
R5346:Dscaml1 UTSW 9 45,450,559 (GRCm38) missense possibly damaging 0.63
R5737:Dscaml1 UTSW 9 45,745,185 (GRCm38) missense probably damaging 0.99
R5977:Dscaml1 UTSW 9 45,721,298 (GRCm38) missense probably benign 0.19
R6073:Dscaml1 UTSW 9 45,450,583 (GRCm38) missense probably benign 0.22
R6276:Dscaml1 UTSW 9 45,668,160 (GRCm38) missense possibly damaging 0.62
R6415:Dscaml1 UTSW 9 45,683,677 (GRCm38) nonsense probably null
R6527:Dscaml1 UTSW 9 45,712,184 (GRCm38) nonsense probably null
R6582:Dscaml1 UTSW 9 45,752,806 (GRCm38) missense probably benign 0.00
R6655:Dscaml1 UTSW 9 45,746,937 (GRCm38) missense probably benign 0.00
R6772:Dscaml1 UTSW 9 45,710,311 (GRCm38) missense probably damaging 1.00
R6799:Dscaml1 UTSW 9 45,450,583 (GRCm38) missense probably benign 0.22
R6892:Dscaml1 UTSW 9 45,683,830 (GRCm38) missense probably damaging 0.99
R6918:Dscaml1 UTSW 9 45,430,507 (GRCm38) missense probably benign
R6967:Dscaml1 UTSW 9 45,674,523 (GRCm38) missense probably damaging 0.97
R7214:Dscaml1 UTSW 9 45,670,139 (GRCm38) missense probably benign 0.01
R7286:Dscaml1 UTSW 9 45,742,746 (GRCm38) critical splice donor site probably null
R7315:Dscaml1 UTSW 9 45,745,125 (GRCm38) missense probably benign 0.00
R7338:Dscaml1 UTSW 9 45,674,504 (GRCm38) missense probably benign 0.12
R7343:Dscaml1 UTSW 9 45,752,916 (GRCm38) missense probably benign
R7395:Dscaml1 UTSW 9 45,702,405 (GRCm38) missense possibly damaging 0.73
R7439:Dscaml1 UTSW 9 45,710,326 (GRCm38) missense possibly damaging 0.94
R7484:Dscaml1 UTSW 9 45,749,446 (GRCm38) splice site probably null
R7545:Dscaml1 UTSW 9 45,685,383 (GRCm38) missense probably benign 0.11
R7979:Dscaml1 UTSW 9 45,683,731 (GRCm38) missense probably damaging 1.00
R8005:Dscaml1 UTSW 9 45,717,510 (GRCm38) missense probably damaging 1.00
R8181:Dscaml1 UTSW 9 45,746,842 (GRCm38) missense possibly damaging 0.86
R8262:Dscaml1 UTSW 9 45,747,140 (GRCm38) intron probably benign
R8428:Dscaml1 UTSW 9 45,742,586 (GRCm38) missense probably benign 0.00
R8725:Dscaml1 UTSW 9 45,430,461 (GRCm38) missense probably benign 0.00
R8727:Dscaml1 UTSW 9 45,430,461 (GRCm38) missense probably benign 0.00
R8796:Dscaml1 UTSW 9 45,447,728 (GRCm38) missense probably damaging 0.99
R8840:Dscaml1 UTSW 9 45,723,420 (GRCm38) missense probably damaging 0.99
R9291:Dscaml1 UTSW 9 45,447,953 (GRCm38) missense probably damaging 1.00
R9394:Dscaml1 UTSW 9 45,750,056 (GRCm38) missense possibly damaging 0.64
R9610:Dscaml1 UTSW 9 45,668,224 (GRCm38) missense possibly damaging 0.95
R9611:Dscaml1 UTSW 9 45,668,224 (GRCm38) missense possibly damaging 0.95
R9653:Dscaml1 UTSW 9 45,732,168 (GRCm38) critical splice donor site probably null
R9699:Dscaml1 UTSW 9 45,743,017 (GRCm38) missense probably damaging 0.97
X0058:Dscaml1 UTSW 9 45,752,128 (GRCm38) missense probably benign 0.00
Z1177:Dscaml1 UTSW 9 45,672,791 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCTGACCAAACACTTGTGAAGCTGG -3'
(R):5'- GGCCCATGATGGATGATAGCACAC -3'

Sequencing Primer
(F):5'- CTGTAGGCCATGCTCAGC -3'
(R):5'- gcttagtctcaggtcctcg -3'
Posted On 2013-07-11