Incidental Mutation 'R0127:Als2cl'
ID 21462
Institutional Source Beutler Lab
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene Name ALS2 C-terminal like
Synonyms D930044G19Rik, mRn.49018
MMRRC Submission 038412-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0127 (G1)
Quality Score 206
Status Validated (trace)
Chromosome 9
Chromosomal Location 110709203-110729598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110720935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 521 (L521P)
Ref Sequence ENSEMBL: ENSMUSP00000115718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000130386] [ENSMUST00000155014]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084926
AA Change: L521P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: L521P

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: L521P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: L521P

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: L521P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: L521P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200613
Meta Mutation Damage Score 0.9218 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 99% (85/86)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,342 (GRCm39) T152A probably benign Het
Abca1 T C 4: 53,067,155 (GRCm39) I1351V probably benign Het
Acap1 A T 11: 69,778,043 (GRCm39) probably benign Het
Ankrd50 T C 3: 38,510,384 (GRCm39) D661G probably benign Het
Atp6v1b2 T A 8: 69,556,112 (GRCm39) N262K probably damaging Het
Baz1a T A 12: 54,945,491 (GRCm39) D1288V possibly damaging Het
Bbs1 A T 19: 4,945,057 (GRCm39) D371E probably benign Het
Bphl A G 13: 34,248,029 (GRCm39) probably benign Het
Caskin2 C A 11: 115,691,820 (GRCm39) R988S probably damaging Het
Cbr1 C A 16: 93,406,875 (GRCm39) T197N probably damaging Het
Ccdc88c T C 12: 100,901,999 (GRCm39) E1213G possibly damaging Het
Ccna1 A G 3: 54,957,169 (GRCm39) F83L probably damaging Het
Cep290 T A 10: 100,372,787 (GRCm39) probably benign Het
Cep89 C A 7: 35,127,687 (GRCm39) T543K possibly damaging Het
Cmtm7 T C 9: 114,610,738 (GRCm39) M45V probably benign Het
Col16a1 T A 4: 129,946,650 (GRCm39) V91E probably damaging Het
Csmd3 T C 15: 47,845,326 (GRCm39) N920S probably benign Het
Cyp26b1 A G 6: 84,554,190 (GRCm39) probably benign Het
Dao T A 5: 114,158,024 (GRCm39) H215Q probably damaging Het
Dido1 T C 2: 180,313,617 (GRCm39) D885G probably benign Het
Dlx4 T G 11: 95,032,055 (GRCm39) M240L probably benign Het
Dnah5 C T 15: 28,295,071 (GRCm39) P1351L probably damaging Het
Dnah6 T A 6: 73,015,717 (GRCm39) probably benign Het
Dock5 A T 14: 68,083,491 (GRCm39) D139E probably benign Het
Dynlt5 T C 4: 102,859,649 (GRCm39) probably benign Het
Fam234b T C 6: 135,195,821 (GRCm39) probably benign Het
Fat2 T C 11: 55,180,112 (GRCm39) T1410A probably benign Het
Fsip2 T A 2: 82,815,269 (GRCm39) N3667K probably benign Het
Gm5114 T C 7: 39,057,880 (GRCm39) I580V probably benign Het
Hapln1 A T 13: 89,755,988 (GRCm39) Y264F probably benign Het
Heatr5a A G 12: 51,972,188 (GRCm39) V694A probably benign Het
Hps1 A G 19: 42,759,550 (GRCm39) probably benign Het
Igsf9b G T 9: 27,245,681 (GRCm39) R1216L possibly damaging Het
Il4ra G T 7: 125,168,242 (GRCm39) C87F probably damaging Het
Kmt5b A G 19: 3,836,465 (GRCm39) M1V probably null Het
Krit1 A G 5: 3,872,178 (GRCm39) E401G probably damaging Het
Lamp1 T C 8: 13,224,491 (GRCm39) V385A probably damaging Het
Ly6g5b A G 17: 35,333,567 (GRCm39) Y82H probably damaging Het
Mapre2 A G 18: 23,937,232 (GRCm39) I25V probably benign Het
Mep1a A G 17: 43,808,777 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,376,209 (GRCm39) W466R probably benign Het
Muc2 C A 7: 141,302,691 (GRCm39) F11L probably benign Het
Nebl T A 2: 17,397,794 (GRCm39) M501L probably benign Het
Oga A T 19: 45,760,327 (GRCm39) I277N probably damaging Het
Or11g2 A G 14: 50,855,789 (GRCm39) I37V probably benign Het
Or4p18 A G 2: 88,232,699 (GRCm39) V193A probably benign Het
Or5w8 A G 2: 87,687,827 (GRCm39) I103V probably benign Het
Or8g32 A G 9: 39,305,238 (GRCm39) I50M probably benign Het
Pkd1l2 A G 8: 117,776,787 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,418,001 (GRCm39) M2886V probably damaging Het
Pop5 T A 5: 115,378,230 (GRCm39) L58H probably damaging Het
Prkch C A 12: 73,768,561 (GRCm39) H444N possibly damaging Het
Reln T C 5: 22,209,134 (GRCm39) D1148G probably damaging Het
Rffl G A 11: 82,703,458 (GRCm39) T120M probably damaging Het
Rmdn2 A T 17: 79,977,998 (GRCm39) S320C probably damaging Het
Rrbp1 C T 2: 143,831,864 (GRCm39) R101H probably benign Het
Rtf1 G A 2: 119,557,224 (GRCm39) R443H probably damaging Het
Serac1 G T 17: 6,099,115 (GRCm39) L559I probably damaging Het
Slc12a1 A G 2: 125,061,682 (GRCm39) R958G probably damaging Het
Slc15a3 T A 19: 10,833,350 (GRCm39) W456R probably damaging Het
Slc28a2b T A 2: 122,347,550 (GRCm39) probably null Het
Slc35f5 C T 1: 125,503,942 (GRCm39) P290L probably damaging Het
Slc35g2 C T 9: 100,435,170 (GRCm39) R167Q probably benign Het
Spag4 T C 2: 155,909,962 (GRCm39) V302A probably damaging Het
Spire2 A C 8: 124,084,836 (GRCm39) probably benign Het
Sptbn2 G T 19: 4,774,772 (GRCm39) V142L probably damaging Het
Syt17 T A 7: 118,009,164 (GRCm39) D352V probably damaging Het
Tars3 A T 7: 65,314,717 (GRCm39) D425V probably benign Het
Thsd7a A G 6: 12,554,907 (GRCm39) S326P probably benign Het
Tnpo2 T C 8: 85,767,257 (GRCm39) S64P probably damaging Het
Tonsl G T 15: 76,517,685 (GRCm39) A678D probably benign Het
Trim12c A G 7: 103,990,113 (GRCm39) probably null Het
Tsc22d1 A G 14: 76,656,421 (GRCm39) T885A possibly damaging Het
Ttn T C 2: 76,572,542 (GRCm39) D26117G probably damaging Het
Ttn T A 2: 76,707,355 (GRCm39) probably benign Het
Ugt3a1 T C 15: 9,306,342 (GRCm39) F164L probably benign Het
Vmn2r89 A G 14: 51,693,160 (GRCm39) N170S probably damaging Het
Vrk2 G T 11: 26,484,313 (GRCm39) probably benign Het
Wt1 C A 2: 104,963,802 (GRCm39) D207E probably damaging Het
Zbtb46 G A 2: 181,053,608 (GRCm39) A368V probably benign Het
Zc3h13 A T 14: 75,560,694 (GRCm39) D428V unknown Het
Zcchc8 C G 5: 123,845,400 (GRCm39) G320A probably damaging Het
Znfx1 T C 2: 166,886,130 (GRCm39) E810G possibly 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
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
Predicted Primers PCR Primer
(F):5'- TTGACCGTGAACTTGTGAGGGAGC -3'
(R):5'- CTCCAGCAGGGACACTGAAAGAATG -3'

Sequencing Primer
(F):5'- AACTTGATTGGCCCTGAGGAC -3'
(R):5'- CTCTGGGCAGGAGTCAAATC -3'
Posted On 2013-04-11