Incidental Mutation 'R1953:Dscaml1'
ID 217485
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 039967-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R1953 (G1)
Quality Score 187
Status Not validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45581522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 447 (T447I)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592] [ENSMUST00000213919]
AlphaFold Q4VA61
Predicted Effect probably benign
Transcript: ENSMUST00000034592
AA Change: T447I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: T447I

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: ENSMUST00000213919
Predicted Effect probably benign
Transcript: ENSMUST00000216078
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A T 11: 80,268,772 (GRCm39) D12E probably damaging Het
Abca15 C T 7: 119,960,655 (GRCm39) R706C probably damaging Het
Actr1a G A 19: 46,369,387 (GRCm39) S209F probably benign Het
Adcy1 A G 11: 7,028,991 (GRCm39) N247S probably benign Het
Anapc4 T C 5: 52,997,030 (GRCm39) L101S probably damaging Het
Asap3 C T 4: 135,954,767 (GRCm39) R60* probably null Het
Ascc3 T C 10: 50,721,726 (GRCm39) S2060P probably benign Het
Atp9b G A 18: 80,797,522 (GRCm39) T851I possibly damaging Het
Borcs5 A G 6: 134,687,230 (GRCm39) H196R unknown Het
Bpifb9b A C 2: 154,153,234 (GRCm39) D100A probably damaging Het
Cant1 G C 11: 118,299,609 (GRCm39) P247A probably damaging Het
Capza3 A T 6: 139,988,294 (GRCm39) I298L possibly damaging Het
Cdh10 T C 15: 18,966,997 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,381 (GRCm39) V2551A probably benign Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cmtr2 T C 8: 110,948,551 (GRCm39) L287P probably damaging Het
Crebbp G A 16: 3,997,313 (GRCm39) T257I probably benign Het
Crispld2 G A 8: 120,742,035 (GRCm39) V128M probably damaging Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dnah10 A G 5: 124,859,332 (GRCm39) T2043A probably benign Het
Eif2ak3 A G 6: 70,869,538 (GRCm39) T742A probably benign Het
Farp1 A G 14: 121,492,894 (GRCm39) T499A probably benign Het
Fcgr1 G A 3: 96,194,386 (GRCm39) T167I probably damaging Het
Fgd5 C A 6: 92,001,611 (GRCm39) H935Q probably benign Het
Fhl4 A T 10: 84,934,171 (GRCm39) D203E probably benign Het
Gapt T G 13: 110,490,340 (GRCm39) T108P probably damaging Het
Gpt2 A G 8: 86,248,013 (GRCm39) T419A probably benign Het
Gucy2c A G 6: 136,681,291 (GRCm39) V907A probably damaging Het
Hmbs T C 9: 44,248,741 (GRCm39) D211G probably damaging Het
Irx5 A G 8: 93,086,438 (GRCm39) N174D probably damaging Het
Itfg1 A G 8: 86,557,860 (GRCm39) V170A probably benign Het
Itga2b T A 11: 102,349,009 (GRCm39) T732S probably benign Het
Klhl3 A G 13: 58,159,022 (GRCm39) Y546H probably damaging Het
Lama5 G A 2: 179,832,540 (GRCm39) H1670Y possibly damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 T C 7: 108,524,325 (GRCm39) D385G probably benign Het
Nr2e3 T A 9: 59,857,079 (GRCm39) D30V probably benign Het
Nyap1 A G 5: 137,733,294 (GRCm39) S580P probably benign Het
Or4c108 G A 2: 88,804,224 (GRCm39) Q4* probably null Het
Or4c12 A G 2: 89,774,267 (GRCm39) L64P probably damaging Het
Or4e2 T A 14: 52,688,344 (GRCm39) V158E probably benign Het
Pex1 A G 5: 3,680,038 (GRCm39) H952R probably damaging Het
Plin4 T A 17: 56,410,849 (GRCm39) I1061F possibly damaging Het
Pnkp C A 7: 44,512,026 (GRCm39) R517S probably benign Het
Polr2e T A 10: 79,874,388 (GRCm39) E39D probably benign Het
Pramel18 T C 4: 101,767,312 (GRCm39) I187T probably benign Het
Prokr1 T C 6: 87,565,575 (GRCm39) Y90C probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Rere G A 4: 150,701,294 (GRCm39) E1225K probably damaging Het
Rsl24d1 G T 9: 73,021,896 (GRCm39) probably benign Het
Selp A G 1: 163,954,081 (GRCm39) N127S probably benign Het
Slc22a18 C T 7: 143,029,984 (GRCm39) T17I probably damaging Het
Smad2 A G 18: 76,395,776 (GRCm39) T72A possibly damaging Het
Snx29 G A 16: 11,217,647 (GRCm39) W149* probably null Het
Stk31 G T 6: 49,423,412 (GRCm39) probably null Het
Sult1e1 T G 5: 87,735,530 (GRCm39) probably null Het
Syngap1 G A 17: 27,163,661 (GRCm39) R41H possibly damaging Het
Tbc1d17 T A 7: 44,490,822 (GRCm39) probably null Het
Tex55 G T 16: 38,648,275 (GRCm39) T278K possibly damaging Het
Tie1 A T 4: 118,329,987 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T A 7: 111,692,083 (GRCm39) D848E probably benign Het
Vmn1r72 A G 7: 11,403,731 (GRCm39) L239P probably damaging Het
Vmn2r124 T C 17: 18,283,122 (GRCm39) I272T probably benign Het
Vwa1 C T 4: 155,857,571 (GRCm39) V76M probably damaging Het
Xrn1 G T 9: 95,906,274 (GRCm39) probably null Het
Zfp667 G T 7: 6,308,087 (GRCm39) V252F probably benign Het
Zranb3 A T 1: 127,927,136 (GRCm39) V343D probably 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
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
R6799:Dscaml1 UTSW 9 45,361,881 (GRCm39) missense probably benign 0.22
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'- TCATGTGACCCTGACACCAAAG -3'
(R):5'- TTGTAGAGCTGACACGAGGG -3'

Sequencing Primer
(F):5'- GGGAGCACGGTCATCCTATC -3'
(R):5'- CTGACACGAGGGCATGG -3'
Posted On 2014-08-01