Incidental Mutation 'IGL02407:Als2cl'
ID 292131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene Name ALS2 C-terminal like
Synonyms D930044G19Rik, mRn.49018
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL02407
Quality Score
Status
Chromosome 9
Chromosomal Location 110709203-110729598 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 110718295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 345 (Y345*)
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 null
Transcript: ENSMUST00000084926
AA Change: Y345*
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: Y345*

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 null
Transcript: ENSMUST00000130386
AA Change: Y345*
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: Y345*

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 null
Transcript: ENSMUST00000155014
AA Change: Y345*
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: Y345*

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,645,575 (GRCm39) W1040* probably null Het
Adgrv1 C A 13: 81,627,789 (GRCm39) A3691S probably damaging Het
Aplp2 A T 9: 31,069,823 (GRCm39) Y496* probably null Het
Ash1l T C 3: 88,979,855 (GRCm39) V2793A probably damaging Het
Bfsp1 A T 2: 143,668,853 (GRCm39) D575E probably benign Het
Ceacam20 G T 7: 19,704,332 (GRCm39) V128F probably benign Het
Cers4 A T 8: 4,570,306 (GRCm39) K204* probably null Het
Cog1 T C 11: 113,544,852 (GRCm39) Y345H probably benign Het
Col14a1 T C 15: 55,312,272 (GRCm39) probably benign Het
Col19a1 A T 1: 24,351,453 (GRCm39) probably null Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Cyp3a16 A T 5: 145,388,652 (GRCm39) M275K probably damaging Het
Degs2 T G 12: 108,658,254 (GRCm39) T242P probably damaging Het
Elac2 T C 11: 64,890,001 (GRCm39) V612A probably benign Het
Elovl6 T A 3: 129,398,733 (GRCm39) F45I probably damaging Het
Exoc1 A C 5: 76,693,193 (GRCm39) N360H probably damaging Het
Fam221b A T 4: 43,666,309 (GRCm39) S101T possibly damaging Het
Garre1 A T 7: 33,955,909 (GRCm39) N393K probably damaging Het
Glyr1 A G 16: 4,854,812 (GRCm39) F89L probably benign Het
Herc4 C A 10: 63,142,203 (GRCm39) T668K probably damaging Het
Hibadh C T 6: 52,525,874 (GRCm39) V259I possibly damaging Het
Hp1bp3 T A 4: 137,967,983 (GRCm39) D397E probably damaging Het
Ift80 G T 3: 68,805,869 (GRCm39) D724E probably benign Het
Igkv3-10 T C 6: 70,550,223 (GRCm39) probably benign Het
Irf9 G T 14: 55,842,678 (GRCm39) A75S possibly damaging Het
Kif13a C T 13: 46,938,769 (GRCm39) V76M probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Lgals8 A G 13: 12,469,699 (GRCm39) W87R probably benign Het
Mccc2 G A 13: 100,127,816 (GRCm39) P96L probably damaging Het
Megf11 A C 9: 64,587,531 (GRCm39) D443A probably damaging Het
Nckap5l T C 15: 99,321,008 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,281 (GRCm39) V230A probably benign Het
Nif3l1 G T 1: 58,496,956 (GRCm39) V294L possibly damaging Het
Or4k39 T A 2: 111,238,923 (GRCm39) noncoding transcript Het
Pcdhb13 T A 18: 37,576,128 (GRCm39) Y169N probably damaging Het
Peg3 A G 7: 6,710,635 (GRCm39) I1529T probably damaging Het
Piezo2 T A 18: 63,279,915 (GRCm39) I219F probably damaging Het
Prpf38a G A 4: 108,424,836 (GRCm39) R242W unknown Het
Prrc2a A T 17: 35,379,480 (GRCm39) D255E unknown Het
Rapgef6 G T 11: 54,567,181 (GRCm39) D1121Y possibly damaging Het
Ryr3 T A 2: 112,585,303 (GRCm39) H2761L probably damaging Het
Sel1l A T 12: 91,810,042 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,510,065 (GRCm39) D539G probably damaging Het
Slc38a9 A G 13: 112,826,777 (GRCm39) S172G probably benign Het
Slfn2 C A 11: 82,960,402 (GRCm39) T127K probably benign Het
Smurf1 A T 5: 144,821,534 (GRCm39) M496K probably damaging Het
Srgap2 A T 1: 131,247,340 (GRCm39) V564D probably damaging Het
Stk32a T C 18: 43,430,576 (GRCm39) I162T probably benign Het
Tchhl1 A T 3: 93,378,634 (GRCm39) N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 (GRCm39) H211Q probably damaging Het
Trim3 T C 7: 105,262,218 (GRCm39) N586S probably benign Het
Trpm1 A G 7: 63,868,869 (GRCm39) E507G probably damaging Het
Tyk2 G T 9: 21,020,523 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,365,316 (GRCm39) K310* probably null Het
Unc13a T A 8: 72,101,586 (GRCm39) N1022Y probably damaging Het
Vmn1r172 A T 7: 23,359,228 (GRCm39) N38Y probably damaging Het
Vmn2r100 A T 17: 19,741,770 (GRCm39) I161F probably damaging Het
Zcchc17 A G 4: 130,243,108 (GRCm39) M25T probably benign Het
Zfp563 G A 17: 33,323,795 (GRCm39) R130Q probably benign Het
Zhx2 A G 15: 57,686,802 (GRCm39) S724G probably benign 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
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
R3848:Als2cl UTSW 9 110,718,377 (GRCm39) splice site probably benign
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
Posted On 2015-04-16