Incidental Mutation 'R7214:Dscaml1'
ID 561316
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 045286-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R7214 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45581437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 419 (I419F)
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: I419F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: I419F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 C T 8: 95,660,646 (GRCm39) T95I Het
Arap2 C T 5: 62,906,681 (GRCm39) V113I probably benign Het
Atraid C T 5: 31,209,590 (GRCm39) Q85* probably null Het
Bcdin3d T C 15: 99,368,344 (GRCm39) D285G probably benign Het
Bmal1 T A 7: 112,898,610 (GRCm39) I346K probably benign Het
Carmil3 T C 14: 55,736,069 (GRCm39) W604R probably damaging Het
Ccl6 C T 11: 83,480,582 (GRCm39) probably null Het
Cct4 C T 11: 22,940,616 (GRCm39) probably benign Het
Cd2ap C T 17: 43,156,285 (GRCm39) R84Q possibly damaging Het
Cdt1 T A 8: 123,295,012 (GRCm39) probably null Het
Cln3 C T 7: 126,181,942 (GRCm39) G40D probably damaging Het
Crlf3 T C 11: 79,955,216 (GRCm39) S47G possibly damaging Het
Csrp3 T C 7: 48,480,385 (GRCm39) K193R probably benign Het
Cxcl3 A C 5: 90,934,219 (GRCm39) E33A probably damaging Het
Cyp11b1 T C 15: 74,708,708 (GRCm39) D362G probably benign Het
Dnah2 T C 11: 69,321,935 (GRCm39) D3795G probably damaging Het
Dnah3 G A 7: 119,521,965 (GRCm39) A4076V probably damaging Het
Dnaja3 T A 16: 4,519,046 (GRCm39) I380N possibly damaging Het
Dock10 T A 1: 80,546,246 (GRCm39) H785L probably benign Het
Dop1b T G 16: 93,607,023 (GRCm39) F2226V possibly damaging Het
Dyrk4 T A 6: 126,862,200 (GRCm39) I431F probably benign Het
Endog C T 2: 30,062,902 (GRCm39) R181C probably damaging Het
Fam90a1a A T 8: 22,453,641 (GRCm39) Y332F probably benign Het
Fastkd3 T C 13: 68,737,499 (GRCm39) I588T probably benign Het
Galnt9 G A 5: 110,737,694 (GRCm39) V217I probably benign Het
Gm973 A T 1: 59,601,888 (GRCm39) R501* probably null Het
Gnptab C T 10: 88,215,019 (GRCm39) probably benign Het
Gpn1 T C 5: 31,660,761 (GRCm39) F184S probably damaging Het
Imp3 G T 9: 56,845,007 (GRCm39) V73L probably benign Het
Ipo11 T C 13: 107,032,365 (GRCm39) D259G probably null Het
Jag1 T C 2: 136,948,802 (GRCm39) S142G probably benign Het
Klhl5 A T 5: 65,289,098 (GRCm39) E120V probably benign Het
Lct C A 1: 128,228,197 (GRCm39) V1099L probably benign Het
Lrba G C 3: 86,235,633 (GRCm39) W912C probably damaging Het
Lss C T 10: 76,383,305 (GRCm39) T535I probably damaging Het
Mcts2 T C 2: 152,529,297 (GRCm39) I36T probably benign Het
Meikin T A 11: 54,302,738 (GRCm39) N383K probably benign Het
Myo1g T C 11: 6,461,055 (GRCm39) Y663C probably damaging Het
Nadk2 T A 15: 9,108,342 (GRCm39) M419K probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfat5 T C 8: 108,020,515 (GRCm39) S20P probably damaging Het
Nlrp1a C T 11: 71,014,119 (GRCm39) C377Y probably damaging Het
Nlrp9a T C 7: 26,250,463 (GRCm39) V76A probably damaging Het
Nrap C A 19: 56,366,567 (GRCm39) A341S probably benign Het
Ntng2 T C 2: 29,117,732 (GRCm39) S239G probably damaging Het
Nup188 T A 2: 30,197,566 (GRCm39) C207S possibly damaging Het
Or10a4 T C 7: 106,697,619 (GRCm39) *316R probably null Het
Or10ak7 T A 4: 118,791,146 (GRCm39) I300F possibly damaging Het
Or1j17 T C 2: 36,578,107 (GRCm39) I31T probably benign Het
Or2ag1 T C 7: 106,473,474 (GRCm39) probably benign Het
Or5b118 T A 19: 13,448,337 (GRCm39) M1K probably null Het
Or8c13 A C 9: 38,091,318 (GRCm39) V267G probably damaging Het
Or8k31-ps1 C T 2: 86,356,150 (GRCm39) V124I probably damaging Het
Pcdhgb2 C A 18: 37,823,159 (GRCm39) A50E probably damaging Het
Pgap1 A T 1: 54,582,220 (GRCm39) M209K possibly damaging Het
Plbd1 T A 6: 136,589,829 (GRCm39) D463V probably damaging Het
Plcg2 T A 8: 118,310,288 (GRCm39) I380N probably damaging Het
Pnpt1 T C 11: 29,087,285 (GRCm39) W184R probably damaging Het
Pptc7 G A 5: 122,451,840 (GRCm39) V202I probably benign Het
Prpf6 C T 2: 181,282,389 (GRCm39) A510V probably damaging Het
Prr5l T C 2: 101,559,777 (GRCm39) Y235C probably benign Het
Ptprk T C 10: 28,450,905 (GRCm39) V1022A probably benign Het
Rbl2 T C 8: 91,810,057 (GRCm39) probably null Het
Rmnd1 T C 10: 4,360,753 (GRCm39) K348E probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Sacs T A 14: 61,429,241 (GRCm39) N433K probably benign Het
Scyl1 T C 19: 5,810,057 (GRCm39) T590A probably benign Het
Sdhd A G 9: 50,508,533 (GRCm39) V111A possibly damaging Het
Sec24b G T 3: 129,827,509 (GRCm39) P330Q probably benign Het
Serpinb6d C T 13: 33,848,128 (GRCm39) P31S probably damaging Het
Slc26a9 A T 1: 131,687,211 (GRCm39) R457W probably damaging Het
Slc5a8 G A 10: 88,755,364 (GRCm39) M490I probably benign Het
Slx4 A G 16: 3,806,844 (GRCm39) I533T probably benign Het
Slx4ip T A 2: 136,888,650 (GRCm39) F110L probably benign Het
Smchd1 T C 17: 71,652,359 (GRCm39) R2000G probably benign Het
Snx8 T C 5: 140,346,008 (GRCm39) E75G possibly damaging Het
Stab2 C A 10: 86,735,705 (GRCm39) C1292F probably damaging Het
Swt1 A T 1: 151,270,364 (GRCm39) M617K possibly damaging Het
Thoc2l A G 5: 104,670,229 (GRCm39) T1584A probably benign Het
Tiam2 T A 17: 3,568,687 (GRCm39) I1611N possibly damaging Het
Tmem63b T G 17: 45,972,748 (GRCm39) N682T probably benign Het
Trio C T 15: 27,871,273 (GRCm39) V674M probably damaging Het
Trpc3 G A 3: 36,704,286 (GRCm39) T557M possibly damaging Het
Vac14 T G 8: 111,397,674 (GRCm39) L463R probably damaging Het
Vmn2r43 C T 7: 8,256,379 (GRCm39) probably null Het
Wdr49 A T 3: 75,265,751 (GRCm39) Y232N possibly damaging Het
Wdr90 T C 17: 26,064,367 (GRCm39) M1835V probably benign Het
Xpc T C 6: 91,469,320 (GRCm39) E809G probably damaging Het
Zfhx3 A T 8: 109,675,493 (GRCm39) Q2181L probably damaging Het
Zfp442 T C 2: 150,251,201 (GRCm39) T234A probably benign Het
Zfp764 A T 7: 127,004,450 (GRCm39) M227K probably benign Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp957 A G 14: 79,450,750 (GRCm39) S350P unknown Het
Zscan29 T A 2: 120,999,761 (GRCm39) K147* probably null 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
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
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'- TTAGCCACATGCCATCACGG -3'
(R):5'- GACTGCAGATCCACTCTTCC -3'

Sequencing Primer
(F):5'- ATGCCATCACGGTTAAGGTC -3'
(R):5'- AGATCCACTCTTCCCTGCCAC -3'
Posted On 2019-06-26