Incidental Mutation 'IGL02805:Dscaml1'
ID 360368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # IGL02805
Quality Score
Status
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45359195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 151 (N151K)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592] [ENSMUST00000213919] [ENSMUST00000217538]
AlphaFold Q4VA61
Predicted Effect probably damaging
Transcript: ENSMUST00000034592
AA Change: N151K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: N151K

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 possibly damaging
Transcript: ENSMUST00000213919
AA Change: I25K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217335
Predicted Effect unknown
Transcript: ENSMUST00000217538
AA Change: I25K
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign 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
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
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
Posted On 2015-12-18