Incidental Mutation 'R1907:Dscaml1'
ID 214481
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 039926-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R1907 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45651778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 277 (G277D)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592]
AlphaFold Q4VA61
Predicted Effect possibly damaging
Transcript: ENSMUST00000034592
AA Change: A1295T

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: A1295T

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 noncoding transcript
Transcript: ENSMUST00000215027
Predicted Effect probably damaging
Transcript: ENSMUST00000216685
AA Change: G277D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 98% (104/106)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C A 3: 121,862,661 (GRCm39) S206R probably damaging Het
Abcc6 G T 7: 45,663,593 (GRCm39) A357E probably benign Het
Abhd13 T A 8: 10,038,170 (GRCm39) C256S probably benign Het
Actrt3 A G 3: 30,652,716 (GRCm39) V126A probably damaging Het
Adgrv1 A G 13: 81,740,670 (GRCm39) probably benign Het
Alyref2 A G 1: 171,331,838 (GRCm39) D205G probably damaging Het
Amigo3 G A 9: 107,930,835 (GRCm39) R86Q probably benign Het
Ankrd50 G C 3: 38,508,201 (GRCm39) P1389A probably damaging Het
Aoah A G 13: 21,094,264 (GRCm39) D183G probably damaging Het
Arap3 A T 18: 38,129,724 (GRCm39) S146T probably benign Het
Atp2c2 T C 8: 120,476,615 (GRCm39) probably benign Het
Atp8b2 C T 3: 89,853,583 (GRCm39) V682M probably benign Het
Cacna1i T C 15: 80,259,465 (GRCm39) I1245T probably damaging Het
Card14 A G 11: 119,222,085 (GRCm39) N460S probably benign Het
Ceacam5 A G 7: 17,486,309 (GRCm39) D602G possibly damaging Het
Cecr2 T A 6: 120,738,121 (GRCm39) H921Q probably benign Het
Cyb5d1 T C 11: 69,285,566 (GRCm39) D115G probably benign Het
Dbp C T 7: 45,357,744 (GRCm39) T67I possibly damaging Het
Dennd5b C T 6: 148,943,074 (GRCm39) V601I probably benign Het
Dnah11 G A 12: 118,091,291 (GRCm39) A947V possibly damaging Het
Dpysl3 T A 18: 43,571,193 (GRCm39) D27V probably damaging Het
Drd1 A T 13: 54,207,271 (GRCm39) D307E possibly damaging Het
Eif4g3 C T 4: 137,885,726 (GRCm39) R842W probably damaging Het
Enam C T 5: 88,652,481 (GRCm39) T1330I possibly damaging Het
Fabp6 T C 11: 43,486,994 (GRCm39) probably null Het
Fcsk A T 8: 111,620,010 (GRCm39) L289* probably null Het
Fhip1a T C 3: 85,579,940 (GRCm39) D755G probably benign Het
Fsip2 C T 2: 82,813,772 (GRCm39) P3364S possibly damaging Het
Gad1 C T 2: 70,409,482 (GRCm39) S191F possibly damaging Het
Gcm1 A C 9: 77,972,055 (GRCm39) N332T probably benign Het
Gin1 G A 1: 97,703,172 (GRCm39) probably benign Het
Gpr25 T C 1: 136,188,538 (GRCm39) D25G probably benign Het
Gstm4 T C 3: 107,948,593 (GRCm39) T172A probably benign Het
Hnrnpll A G 17: 80,342,758 (GRCm39) probably null Het
Il12rb2 T A 6: 67,272,270 (GRCm39) K339* probably null Het
Inpp1 A G 1: 52,828,829 (GRCm39) *397Q probably null Het
Kcp G T 6: 29,497,834 (GRCm39) probably benign Het
Kdm1b G A 13: 47,217,596 (GRCm39) V352I probably benign Het
Klhdc2 G T 12: 69,343,734 (GRCm39) probably benign Het
Krt75 T A 15: 101,481,801 (GRCm39) T156S possibly damaging Het
Lag3 T A 6: 124,886,450 (GRCm39) I168F possibly damaging Het
Lama4 T G 10: 38,948,754 (GRCm39) V839G probably benign Het
Lmtk2 G T 5: 144,111,928 (GRCm39) V883L probably benign Het
Lrrc37a C A 11: 103,347,982 (GRCm39) K2904N unknown Het
Macf1 A T 4: 123,266,192 (GRCm39) I4775N probably damaging Het
Map2k3 T G 11: 60,823,055 (GRCm39) S3A possibly damaging Het
Mast1 G A 8: 85,642,895 (GRCm39) R967C probably damaging Het
Mettl2 T G 11: 105,017,666 (GRCm39) S59A probably benign Het
Mtr G A 13: 12,240,418 (GRCm39) T530I probably damaging Het
Myo7b A T 18: 32,110,052 (GRCm39) C1137S possibly damaging Het
Nacad T A 11: 6,552,540 (GRCm39) H217L probably benign Het
Ncstn A T 1: 171,899,710 (GRCm39) V324E probably damaging Het
Ndufaf7 C A 17: 79,249,546 (GRCm39) H148N possibly damaging Het
Or10a49 T A 7: 108,467,705 (GRCm39) I219F possibly damaging Het
Or52a24 T A 7: 103,381,190 (GRCm39) I19N probably damaging Het
Or52n2b G A 7: 104,566,272 (GRCm39) T77I probably damaging Het
Or7g12 T C 9: 18,899,737 (GRCm39) I151T possibly damaging Het
Or8b12 T G 9: 37,657,729 (GRCm39) L100V probably benign Het
Or8k17 T C 2: 86,066,454 (GRCm39) K242E possibly damaging Het
Pcdh20 T C 14: 88,706,140 (GRCm39) I387V probably benign Het
Pclo A G 5: 14,728,525 (GRCm39) probably benign Het
Pcp2 G A 8: 3,674,904 (GRCm39) probably benign Het
Pde1a T A 2: 79,698,651 (GRCm39) D393V probably damaging Het
Pias4 T C 10: 80,990,197 (GRCm39) D421G possibly damaging Het
Pign T C 1: 105,565,940 (GRCm39) T362A possibly damaging Het
Pik3c2g A C 6: 139,789,768 (GRCm39) K304Q probably damaging Het
Pkd2 T A 5: 104,634,672 (GRCm39) W568R probably damaging Het
Pld2 T A 11: 70,435,010 (GRCm39) I306N probably damaging Het
Plppr3 T C 10: 79,709,903 (GRCm39) K9R probably damaging Het
Pramel11 T A 4: 143,622,061 (GRCm39) R431S possibly damaging Het
Psme4 T C 11: 30,760,922 (GRCm39) V397A probably damaging Het
Ptbp2 A T 3: 119,555,398 (GRCm39) S23R probably damaging Het
Ptpn13 A G 5: 103,728,575 (GRCm39) D2074G probably null Het
Rab34 T A 11: 78,082,081 (GRCm39) L166H probably damaging Het
Rabgap1l T A 1: 160,472,880 (GRCm39) R519S probably benign Het
Rasa1 A T 13: 85,374,691 (GRCm39) L218* probably null Het
Reln A G 5: 22,249,960 (GRCm39) probably null Het
Rer1 T C 4: 155,162,956 (GRCm39) D94G possibly damaging Het
Rhpn1 T C 15: 75,583,673 (GRCm39) V386A probably benign Het
Samd3 T A 10: 26,147,754 (GRCm39) C476* probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sipa1l3 A G 7: 29,038,592 (GRCm39) S352P possibly damaging Het
Slc27a2 A G 2: 126,428,262 (GRCm39) Y549C probably benign Het
Slc7a9 A G 7: 35,149,279 (GRCm39) T7A probably benign Het
Slco4c1 C T 1: 96,770,224 (GRCm39) G280D probably damaging Het
Snx19 T A 9: 30,344,872 (GRCm39) V657E probably damaging Het
Spata31d1c A G 13: 65,183,690 (GRCm39) M411V probably benign Het
Spice1 T A 16: 44,178,193 (GRCm39) L72* probably null Het
Stard9 G T 2: 120,544,293 (GRCm39) V4471L probably damaging Het
Syt14 A G 1: 192,584,143 (GRCm39) L707P probably damaging Het
Tab1 T C 15: 80,037,869 (GRCm39) I234T probably damaging Het
Tas2r107 T C 6: 131,636,951 (GRCm39) M33V probably benign Het
Tbx4 T A 11: 85,805,349 (GRCm39) S479R possibly damaging Het
Tssk5 C T 15: 76,257,093 (GRCm39) R263Q probably benign Het
Ttn T C 2: 76,701,200 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,489 (GRCm39) Q226L probably benign Het
Ush2a C T 1: 188,447,261 (GRCm39) S2483L probably benign Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably damaging Het
Xirp2 A G 2: 67,346,700 (GRCm39) I2980M probably damaging Het
Yeats4 G A 10: 117,051,636 (GRCm39) T207I probably benign Het
Ythdc1 A G 5: 86,978,489 (GRCm39) R561G probably damaging Het
Zbtb14 G A 17: 69,694,385 (GRCm39) E28K possibly damaging Het
Zfp931 A T 2: 177,711,684 (GRCm39) L21Q probably damaging Het
Zyg11b A C 4: 108,112,423 (GRCm39) M415R 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
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
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'- ACTGCAGGACTAGCTCCATC -3'
(R):5'- AGGAGCCAGAATTCTGCAAATG -3'

Sequencing Primer
(F):5'- ATCAGCTCCCGGGGTTGAG -3'
(R):5'- TGGAAGCTTCTATCAGACCCTAGG -3'
Posted On 2014-07-14