Incidental Mutation 'R2851:Als2cl'
ID252231
Institutional Source Beutler Lab
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene NameALS2 C-terminal like
SynonymsmRn.49018, D930044G19Rik
MMRRC Submission 040444-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #R2851 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location110879870-110900530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110894135 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 636 (S636P)
Ref Sequence ENSEMBL: ENSMUSP00000115718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000130386] [ENSMUST00000155014]
Predicted Effect probably damaging
Transcript: ENSMUST00000084926
AA Change: S636P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: S636P

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 damaging
Transcript: ENSMUST00000130386
AA Change: S636P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: S636P

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 damaging
Transcript: ENSMUST00000155014
AA Change: S636P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: S636P

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
Meta Mutation Damage Score 0.2296 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 A C 1: 34,724,048 D795A unknown Het
Bank1 A T 3: 136,242,940 S159T possibly damaging Het
Catsperd A G 17: 56,660,169 probably null Het
Ccdc85a A G 11: 28,392,942 probably benign Het
Ceacam11 T C 7: 17,978,526 I300T probably benign Het
Cmtm5 A G 14: 54,938,055 probably benign Het
Cnn3 C T 3: 121,450,053 probably benign Het
Col12a1 A T 9: 79,678,332 N1254K probably damaging Het
Crispld2 T A 8: 120,014,089 L107Q probably damaging Het
Ctr9 C T 7: 111,053,446 R984C unknown Het
Cyp1b1 T C 17: 79,710,220 N502S probably benign Het
Cyp51 A T 5: 4,099,183 D231E probably damaging Het
Depdc5 A G 5: 32,924,171 E559G probably damaging Het
Dscam T C 16: 96,622,715 T1677A possibly damaging Het
Dzip1 A C 14: 118,922,445 M117R possibly damaging Het
Ednrb G T 14: 103,821,674 S305R probably benign Het
Emilin1 A G 5: 30,917,165 D250G probably benign Het
Frrs1 A G 3: 116,885,129 N200S probably benign Het
Fstl5 T A 3: 76,429,738 probably benign Het
Gmcl1 A C 6: 86,726,177 S92A probably damaging Het
Gpr62 T C 9: 106,464,712 E339G probably benign Het
Hspd1 A T 1: 55,081,097 D315E probably damaging Het
Il19 A G 1: 130,935,957 V99A possibly damaging Het
Itga9 G A 9: 118,636,536 E153K probably damaging Het
Itgad T A 7: 128,204,560 V42E probably benign Het
Krt82 T C 15: 101,548,435 Y170C probably damaging Het
Map4k4 T A 1: 40,000,755 probably benign Het
Mdc1 T A 17: 35,849,010 V670D probably benign Het
Mfsd4b2 T A 10: 39,922,123 S79C probably benign Het
Mre11a A G 9: 14,826,547 E599G probably benign Het
Mthfsd G A 8: 121,105,773 T60I probably benign Het
Mycbp2 A T 14: 103,144,333 F3724I probably damaging Het
Nceh1 A G 3: 27,241,355 Y255C probably damaging Het
Ncoa2 C T 1: 13,186,889 V129I probably damaging Het
Ndufb5 T C 3: 32,746,451 F58L probably damaging Het
Npsr1 A G 9: 24,310,005 probably benign Het
Obscn C A 11: 59,030,018 probably null Het
Pdzd7 C G 19: 45,027,674 V1003L probably benign Het
Pias3 A G 3: 96,703,537 E377G possibly damaging Het
Pilra T A 5: 137,836,080 M14L probably benign Het
Pkhd1 T C 1: 20,058,302 Q4059R probably benign Het
Ppa2 A T 3: 133,321,003 probably null Het
Proser1 G A 3: 53,480,545 A885T probably benign Het
Robo2 A G 16: 73,961,888 I665T probably damaging Het
Robo4 CGG CG 9: 37,411,490 probably null Het
Secisbp2 G A 13: 51,654,635 probably null Het
Setbp1 T A 18: 78,923,996 Q171L probably benign Het
Spata1 A G 3: 146,487,540 L96P possibly damaging Het
Srprb G A 9: 103,198,839 Q800* probably null Het
Stk11ip A G 1: 75,529,267 probably benign Het
Tbl3 T C 17: 24,702,583 T445A probably damaging Het
Tdrd12 G A 7: 35,485,373 T705M probably damaging Het
Tek A G 4: 94,820,224 T340A probably benign Het
Timm22 G A 11: 76,414,099 A188T probably damaging Het
Tmeff1 T A 4: 48,604,692 probably null Het
Tmprss12 C A 15: 100,282,415 T112K possibly damaging Het
U2surp A G 9: 95,500,682 probably null Het
Vmn2r84 T A 10: 130,394,167 E25D probably benign Het
Wdr62 A T 7: 30,261,437 N22K possibly damaging Het
Wdr78 A G 4: 103,096,661 S114P probably benign Het
Zfp653 A T 9: 22,057,566 D426E probably benign Het
Zfyve28 G A 5: 34,196,662 P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 T549A 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
IGL02073:Als2cl APN 9 110894339 missense probably benign
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
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 intron 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
R7937:Als2cl UTSW 9 110898496 makesense probably null
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
Predicted Primers PCR Primer
(F):5'- ACCAACCCTCTTAGTGCTGC -3'
(R):5'- AGGGTATCTTCCATGCTGCC -3'

Sequencing Primer
(F):5'- TCTTAGTGCTGCGCCGAG -3'
(R):5'- TTCCATGCTGCCCACACAG -3'
Posted On2014-12-04