Incidental Mutation 'R5977:Dscaml1'
ID 481196
Institutional Source Beutler Lab
Gene Symbol Dscaml1
Ensembl Gene ENSMUSG00000032087
Gene Name DS cell adhesion molecule like 1
Synonyms 4921507G06Rik, 4930435C18Rik
MMRRC Submission 044159-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R5977 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 45338735-45665011 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45632596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 1154 (N1154T)
Ref Sequence ENSEMBL: ENSMUSP00000034592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034592]
AlphaFold Q4VA61
Predicted Effect probably benign
Transcript: ENSMUST00000034592
AA Change: N1154T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034592
Gene: ENSMUSG00000032087
AA Change: N1154T

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 unknown
Transcript: ENSMUST00000216685
AA Change: N183T
Meta Mutation Damage Score 0.1752 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,451,106 (GRCm39) R446S probably damaging Het
2900092C05Rik A T 7: 12,288,664 (GRCm39) H159L probably benign Het
4933405O20Rik G A 7: 50,249,838 (GRCm39) V291I probably damaging Het
A2ml1 A G 6: 128,558,085 (GRCm39) Y24H probably damaging Het
Adgrv1 C T 13: 81,583,678 (GRCm39) probably null Het
Ankrd52 C T 10: 128,218,566 (GRCm39) H351Y probably damaging Het
Anks6 C A 4: 47,035,748 (GRCm39) A588S probably benign Het
Arl15 T G 13: 114,070,645 (GRCm39) V80G probably damaging Het
Atp8a1 A G 5: 67,904,628 (GRCm39) I532T possibly damaging Het
Birc6 T C 17: 74,910,031 (GRCm39) C1475R probably damaging Het
Carmil1 C T 13: 24,253,719 (GRCm39) R394Q probably damaging Het
Cbfa2t2 T C 2: 154,359,697 (GRCm39) I254T probably damaging Het
Cemip2 A G 19: 21,803,447 (GRCm39) T827A probably benign Het
Col6a3 A G 1: 90,749,571 (GRCm39) V421A possibly damaging Het
Cped1 T C 6: 22,254,607 (GRCm39) V1000A probably damaging Het
Cr1l A T 1: 194,797,076 (GRCm39) Y282* probably null Het
Cryl1 G T 14: 57,620,236 (GRCm39) T43K probably benign Het
Csmd2 C T 4: 127,952,827 (GRCm39) P92L probably damaging Het
Ddx60 G A 8: 62,474,444 (GRCm39) probably null Het
Dhrs7b C T 11: 60,743,328 (GRCm39) R187* probably null Het
Dmtf1 T C 5: 9,190,451 (GRCm39) T88A probably damaging Het
Dnah2 T C 11: 69,411,707 (GRCm39) E305G possibly damaging Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Egflam T A 15: 7,347,726 (GRCm39) Y68F possibly damaging Het
Gcm2 A G 13: 41,256,603 (GRCm39) V382A probably damaging Het
Gm18358 A G 7: 84,739,756 (GRCm39) noncoding transcript Het
Gm3443 T G 19: 21,534,960 (GRCm39) I75S probably benign Het
Gpr182 C A 10: 127,586,748 (GRCm39) V68F possibly damaging Het
Herc1 T A 9: 66,340,604 (GRCm39) M1651K possibly damaging Het
Hey1 A T 3: 8,731,418 (GRCm39) probably null Het
Ighv1-43 A C 12: 114,909,829 (GRCm39) V31G probably benign Het
Il17rc T C 6: 113,459,692 (GRCm39) V450A probably damaging Het
Kbtbd4 T G 2: 90,736,487 (GRCm39) V166G probably benign Het
Marveld2 T C 13: 100,748,197 (GRCm39) N294S possibly damaging Het
Mtdh A G 15: 34,099,720 (GRCm39) K61E probably damaging Het
Muc5ac T C 7: 141,350,104 (GRCm39) S616P possibly damaging Het
Myh15 T C 16: 48,973,866 (GRCm39) L1292P probably damaging Het
Nek8 C T 11: 78,058,651 (GRCm39) V550M probably benign Het
Nup155 T A 15: 8,159,721 (GRCm39) probably null Het
Or2y17 G A 11: 49,231,592 (GRCm39) V78M probably damaging Het
Or7c70 A T 10: 78,683,572 (GRCm39) M59K possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G A 12: 83,831,143 (GRCm39) W1099* probably null Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Prss39 T G 1: 34,541,783 (GRCm39) C287G probably damaging Het
Pyroxd2 A G 19: 42,723,911 (GRCm39) V338A probably damaging Het
Rab19 T A 6: 39,360,860 (GRCm39) F3I probably benign Het
Relt A G 7: 100,512,355 (GRCm39) probably benign Het
Sbf2 T A 7: 109,977,193 (GRCm39) H647L probably benign Het
Scube1 C T 15: 83,513,689 (GRCm39) C327Y probably damaging Het
Sec14l4 A C 11: 3,990,055 (GRCm39) Q118P possibly damaging Het
Shisa9 C G 16: 12,085,292 (GRCm39) D300E probably benign Het
Smg1 A G 7: 117,740,580 (GRCm39) probably benign Het
Sncaip A G 18: 53,002,393 (GRCm39) T305A probably benign Het
Sorcs3 T C 19: 48,784,889 (GRCm39) V1104A probably damaging Het
Ugt1a6b C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc119b A G 5: 115,268,612 (GRCm39) V91A probably benign Het
Uvssa A G 5: 33,547,204 (GRCm39) K257E probably damaging Het
Vmn1r199 A C 13: 22,567,416 (GRCm39) M237L probably benign Het
Vmn1r69 G A 7: 10,314,417 (GRCm39) R26W probably damaging Het
Vmn2r54 A G 7: 12,366,143 (GRCm39) F264L probably damaging Het
Vmn2r7 C T 3: 64,623,464 (GRCm39) W285* probably null Het
Vmn2r78 T A 7: 86,569,541 (GRCm39) S145T possibly damaging Het
Vmn2r78 T A 7: 86,604,115 (GRCm39) N764K probably benign Het
Wdr5b T G 16: 35,862,374 (GRCm39) H164Q probably damaging Het
Zcchc7 G A 4: 44,894,982 (GRCm39) V236I possibly damaging Het
Zfp729b G A 13: 67,739,740 (GRCm39) R842C 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
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
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'- GAATAGCAGTACAGCTCCCAGAG -3'
(R):5'- CACACTACTGAGAGCTGTCAGC -3'

Sequencing Primer
(F):5'- AGAGCTGCGTCAGACAGTC -3'
(R):5'- TCAGCTCTAATCAGGCCTGGAG -3'
Posted On 2017-06-26