Incidental Mutation 'IGL02073:Als2cl'
ID185909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene NameALS2 C-terminal like
SynonymsmRn.49018, D930044G19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02073
Quality Score
Status
Chromosome9
Chromosomal Location110879870-110900530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110894339 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 659 (K659E)
Ref Sequence ENSEMBL: ENSMUSP00000115718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000130386] [ENSMUST00000155014]
Predicted Effect probably benign
Transcript: ENSMUST00000084926
AA Change: K659E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: K659E

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: ENSMUST00000130386
AA Change: K659E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: K659E

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
AA Change: K659E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: K659E

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: ENSMUST00000195890
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Als2cl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Als2cl APN 9 110886539 critical splice donor site probably null
IGL00743:Als2cl APN 9 110889159 missense possibly damaging 0.88
IGL01504:Als2cl APN 9 110889283 missense probably benign 0.05
IGL01991:Als2cl APN 9 110892917 missense probably benign 0.00
IGL02407:Als2cl APN 9 110889227 nonsense probably null
IGL03266:Als2cl APN 9 110890856 missense possibly damaging 0.74
R0006:Als2cl UTSW 9 110894618 missense possibly damaging 0.93
R0127:Als2cl UTSW 9 110891867 missense probably damaging 1.00
R0395:Als2cl UTSW 9 110898084 missense probably damaging 1.00
R0490:Als2cl UTSW 9 110895346 missense probably benign 0.04
R0540:Als2cl UTSW 9 110895784 nonsense probably null
R0900:Als2cl UTSW 9 110890428 missense possibly damaging 0.94
R1542:Als2cl UTSW 9 110894034 missense probably benign 0.36
R1574:Als2cl UTSW 9 110884060 missense probably damaging 1.00
R1574:Als2cl UTSW 9 110884060 missense probably damaging 1.00
R2059:Als2cl UTSW 9 110885438 missense probably benign 0.00
R2168:Als2cl UTSW 9 110888742 missense probably damaging 1.00
R2851:Als2cl UTSW 9 110894135 missense probably damaging 0.99
R2853:Als2cl UTSW 9 110894135 missense probably damaging 0.99
R2919:Als2cl UTSW 9 110897499 critical splice acceptor site probably null
R3761:Als2cl UTSW 9 110898134 missense probably damaging 1.00
R3848:Als2cl UTSW 9 110889309 splice site probably benign
R3850:Als2cl UTSW 9 110889309 splice site probably benign
R4110:Als2cl UTSW 9 110884047 missense probably benign 0.18
R4438:Als2cl UTSW 9 110885398 missense probably damaging 0.98
R4732:Als2cl UTSW 9 110889136 missense probably damaging 0.99
R4733:Als2cl UTSW 9 110889136 missense probably damaging 0.99
R5060:Als2cl UTSW 9 110884137 missense probably damaging 0.99
R5119:Als2cl UTSW 9 110890819 missense probably damaging 1.00
R5905:Als2cl UTSW 9 110898084 missense probably damaging 1.00
R5913:Als2cl UTSW 9 110889705 critical splice acceptor site probably null
R5930:Als2cl UTSW 9 110887364 missense probably damaging 1.00
R6197:Als2cl UTSW 9 110895884 missense probably damaging 1.00
R6362:Als2cl UTSW 9 110895446 splice site probably null
R7052:Als2cl UTSW 9 110898083 missense probably damaging 1.00
R7081:Als2cl UTSW 9 110894582 missense possibly damaging 0.66
R7472:Als2cl UTSW 9 110898106 missense probably benign 0.05
R7854:Als2cl UTSW 9 110898496 makesense probably null
R8120:Als2cl UTSW 9 110885392 missense possibly damaging 0.57
R8279:Als2cl UTSW 9 110894585 missense probably damaging 1.00
R8458:Als2cl UTSW 9 110884957 missense probably damaging 0.98
R8475:Als2cl UTSW 9 110886416 missense possibly damaging 0.46
R8808:Als2cl UTSW 9 110889214 missense possibly damaging 0.87
R8819:Als2cl UTSW 9 110885787 missense probably benign 0.07
R8820:Als2cl UTSW 9 110885787 missense probably benign 0.07
X0011:Als2cl UTSW 9 110885011 missense probably damaging 1.00
Z1177:Als2cl UTSW 9 110888528 missense probably benign 0.00
Z1177:Als2cl UTSW 9 110895817 nonsense probably null
Posted On2014-05-07