Incidental Mutation 'R3848:Als2cl'
ID 275771
Institutional Source Beutler Lab
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene Name ALS2 C-terminal like
Synonyms D930044G19Rik, mRn.49018
MMRRC Submission 040896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R3848 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110709203-110729598 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 110718377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000123389] [ENSMUST00000130386] [ENSMUST00000155014]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084926
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037

DomainStartEndE-ValueType
SCOP:d1by1a_ 8 215 2e-3 SMART
Blast:PH 220 318 8e-7 BLAST
MORN 356 377 1.83e-3 SMART
Pfam:MORN 381 397 4.5e-4 PFAM
MORN 407 428 1.2e1 SMART
MORN 430 451 3.71e-1 SMART
MORN 457 478 4.33e-1 SMART
MORN 481 502 3.18e-1 SMART
MORN 504 525 1.68e0 SMART
MORN 527 549 3.63e1 SMART
Pfam:VPS9 833 937 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123389
Predicted Effect probably benign
Transcript: ENSMUST00000130386
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037

DomainStartEndE-ValueType
SCOP:d1by1a_ 8 215 2e-3 SMART
Blast:PH 220 318 8e-7 BLAST
MORN 356 377 1.83e-3 SMART
Pfam:MORN 381 397 4.5e-4 PFAM
MORN 407 428 1.2e1 SMART
MORN 430 451 3.71e-1 SMART
MORN 457 478 4.33e-1 SMART
MORN 481 502 3.18e-1 SMART
MORN 504 525 1.68e0 SMART
MORN 527 549 3.63e1 SMART
Pfam:VPS9 833 937 1.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141845
Predicted Effect probably benign
Transcript: ENSMUST00000155014
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037

DomainStartEndE-ValueType
SCOP:d1by1a_ 8 215 2e-3 SMART
Blast:PH 220 318 8e-7 BLAST
MORN 356 377 1.83e-3 SMART
Pfam:MORN 381 399 5.6e-4 PFAM
MORN 407 428 1.2e1 SMART
MORN 430 451 3.71e-1 SMART
MORN 457 478 4.33e-1 SMART
MORN 481 502 3.18e-1 SMART
MORN 504 525 1.68e0 SMART
MORN 527 549 3.63e1 SMART
Pfam:VPS9 833 937 1.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195890
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Adgrv1 A G 13: 81,588,191 (GRCm39) V4465A probably damaging Het
Anxa2 G T 9: 69,374,624 (GRCm39) D34Y probably damaging Het
Asic1 A G 15: 99,570,814 (GRCm39) N143S probably benign Het
Catsperb A C 12: 101,475,585 (GRCm39) Q376H probably damaging Het
Cd72 T C 4: 43,452,525 (GRCm39) E132G possibly damaging Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Col15a1 T C 4: 47,289,374 (GRCm39) V48A possibly damaging Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpeb2 T G 5: 43,394,788 (GRCm39) S64A probably damaging Het
Cplx3 G A 9: 57,515,600 (GRCm39) A425V possibly damaging Het
Ctsc A G 7: 87,958,818 (GRCm39) H366R probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Efhb A T 17: 53,734,024 (GRCm39) probably benign Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Fbxo38 G A 18: 62,648,144 (GRCm39) S798F possibly damaging Het
Fggy T C 4: 95,489,361 (GRCm39) probably benign Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Hoxd8 A G 2: 74,535,929 (GRCm39) Y13C possibly damaging Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Jph2 G A 2: 163,181,332 (GRCm39) P611S probably benign Het
Kifbp A G 10: 62,405,249 (GRCm39) Y64H probably damaging Het
Kndc1 T C 7: 139,488,893 (GRCm39) S183P probably damaging Het
L3mbtl1 A G 2: 162,790,121 (GRCm39) E132G probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrpprc T C 17: 85,078,355 (GRCm39) I308V probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Or51v8 A G 7: 103,319,908 (GRCm39) V110A probably damaging Het
Or52e8b A G 7: 104,673,539 (GRCm39) V216A probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Orc2 T C 1: 58,520,151 (GRCm39) T225A probably benign Het
P2ry1 G A 3: 60,910,880 (GRCm39) W6* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pigt G A 2: 164,340,500 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,963,785 (GRCm39) C71* probably null Het
Plcxd2 T C 16: 45,792,629 (GRCm39) T237A probably damaging Het
Pnrc1 T C 4: 33,246,252 (GRCm39) K236E probably damaging Het
Ppargc1b T A 18: 61,444,113 (GRCm39) D350V probably damaging Het
Rapgef6 T C 11: 54,582,134 (GRCm39) S1349P probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Sell A T 1: 163,893,230 (GRCm39) K149* probably null Het
Sidt1 A G 16: 44,076,322 (GRCm39) probably benign Het
Slc6a5 C G 7: 49,577,306 (GRCm39) probably benign Het
Slc7a14 A T 3: 31,291,623 (GRCm39) N218K probably damaging Het
Spice1 C T 16: 44,199,254 (GRCm39) R569* probably null Het
Stk35 G T 2: 129,642,656 (GRCm39) A66S probably benign Het
Tmem245 A G 4: 56,926,298 (GRCm39) probably benign Het
Tnxb A C 17: 34,909,369 (GRCm39) R1632S possibly damaging Het
Ttc6 G A 12: 57,723,932 (GRCm39) R1020H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Vmn2r15 A T 5: 109,445,312 (GRCm39) D37E probably benign Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G probably damaging Het
Other mutations in Als2cl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Als2cl APN 9 110,715,607 (GRCm39) critical splice donor site probably null
IGL00743:Als2cl APN 9 110,718,227 (GRCm39) missense possibly damaging 0.88
IGL01504:Als2cl APN 9 110,718,351 (GRCm39) missense probably benign 0.05
IGL01991:Als2cl APN 9 110,721,985 (GRCm39) missense probably benign 0.00
IGL02073:Als2cl APN 9 110,723,407 (GRCm39) missense probably benign
IGL02407:Als2cl APN 9 110,718,295 (GRCm39) nonsense probably null
IGL03266:Als2cl APN 9 110,719,924 (GRCm39) missense possibly damaging 0.74
R0006:Als2cl UTSW 9 110,723,686 (GRCm39) missense possibly damaging 0.93
R0127:Als2cl UTSW 9 110,720,935 (GRCm39) missense probably damaging 1.00
R0395:Als2cl UTSW 9 110,727,152 (GRCm39) missense probably damaging 1.00
R0490:Als2cl UTSW 9 110,724,414 (GRCm39) missense probably benign 0.04
R0540:Als2cl UTSW 9 110,724,852 (GRCm39) nonsense probably null
R0900:Als2cl UTSW 9 110,719,496 (GRCm39) missense possibly damaging 0.94
R1542:Als2cl UTSW 9 110,723,102 (GRCm39) missense probably benign 0.36
R1574:Als2cl UTSW 9 110,713,128 (GRCm39) missense probably damaging 1.00
R1574:Als2cl UTSW 9 110,713,128 (GRCm39) missense probably damaging 1.00
R2059:Als2cl UTSW 9 110,714,506 (GRCm39) missense probably benign 0.00
R2168:Als2cl UTSW 9 110,717,810 (GRCm39) missense probably damaging 1.00
R2851:Als2cl UTSW 9 110,723,203 (GRCm39) missense probably damaging 0.99
R2853:Als2cl UTSW 9 110,723,203 (GRCm39) missense probably damaging 0.99
R2919:Als2cl UTSW 9 110,726,567 (GRCm39) critical splice acceptor site probably null
R3761:Als2cl UTSW 9 110,727,202 (GRCm39) missense probably damaging 1.00
R3850:Als2cl UTSW 9 110,718,377 (GRCm39) splice site probably benign
R4110:Als2cl UTSW 9 110,713,115 (GRCm39) missense probably benign 0.18
R4438:Als2cl UTSW 9 110,714,466 (GRCm39) missense probably damaging 0.98
R4732:Als2cl UTSW 9 110,718,204 (GRCm39) missense probably damaging 0.99
R4733:Als2cl UTSW 9 110,718,204 (GRCm39) missense probably damaging 0.99
R5060:Als2cl UTSW 9 110,713,205 (GRCm39) missense probably damaging 0.99
R5119:Als2cl UTSW 9 110,719,887 (GRCm39) missense probably damaging 1.00
R5905:Als2cl UTSW 9 110,727,152 (GRCm39) missense probably damaging 1.00
R5913:Als2cl UTSW 9 110,718,773 (GRCm39) critical splice acceptor site probably null
R5930:Als2cl UTSW 9 110,716,432 (GRCm39) missense probably damaging 1.00
R6197:Als2cl UTSW 9 110,724,952 (GRCm39) missense probably damaging 1.00
R6362:Als2cl UTSW 9 110,724,514 (GRCm39) splice site probably null
R7052:Als2cl UTSW 9 110,727,151 (GRCm39) missense probably damaging 1.00
R7081:Als2cl UTSW 9 110,723,650 (GRCm39) missense possibly damaging 0.66
R7472:Als2cl UTSW 9 110,727,174 (GRCm39) missense probably benign 0.05
R7854:Als2cl UTSW 9 110,727,564 (GRCm39) makesense probably null
R8120:Als2cl UTSW 9 110,714,460 (GRCm39) missense possibly damaging 0.57
R8279:Als2cl UTSW 9 110,723,653 (GRCm39) missense probably damaging 1.00
R8458:Als2cl UTSW 9 110,714,025 (GRCm39) missense probably damaging 0.98
R8475:Als2cl UTSW 9 110,715,484 (GRCm39) missense possibly damaging 0.46
R8808:Als2cl UTSW 9 110,718,282 (GRCm39) missense possibly damaging 0.87
R8819:Als2cl UTSW 9 110,714,855 (GRCm39) missense probably benign 0.07
R8820:Als2cl UTSW 9 110,714,855 (GRCm39) missense probably benign 0.07
R9070:Als2cl UTSW 9 110,718,288 (GRCm39) missense probably benign
R9149:Als2cl UTSW 9 110,718,191 (GRCm39) missense probably benign 0.42
R9257:Als2cl UTSW 9 110,723,755 (GRCm39) missense probably damaging 1.00
X0011:Als2cl UTSW 9 110,714,079 (GRCm39) missense probably damaging 1.00
Z1177:Als2cl UTSW 9 110,724,885 (GRCm39) nonsense probably null
Z1177:Als2cl UTSW 9 110,717,596 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATACCTGCAGCAGCGATGAC -3'
(R):5'- ACCCCTGACAACTTCCATGG -3'

Sequencing Primer
(F):5'- TGCAGCAGCGATGACATGTC -3'
(R):5'- CCTGACAACTTCCATGGGGAGAG -3'
Posted On 2015-04-06