Incidental Mutation 'R2919:Als2cl'
ID 255433
Institutional Source Beutler Lab
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene Name ALS2 C-terminal like
Synonyms D930044G19Rik, mRn.49018
MMRRC Submission 040504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R2919 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110709203-110729598 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 110726567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
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 null
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 probably null
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: ENSMUST00000195890
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,122,001 (GRCm39) R27H probably benign Het
2310002L09Rik A T 4: 73,868,845 (GRCm39) L31Q probably damaging Het
Agbl1 G A 7: 76,064,406 (GRCm39) D53N probably damaging Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Atg9b T A 5: 24,596,542 (GRCm39) T125S possibly damaging Het
Casp8ap2 A G 4: 32,645,343 (GRCm39) D1472G probably damaging Het
Cd1d2 C G 3: 86,894,987 (GRCm39) P158A probably damaging Het
Cdc45 A G 16: 18,627,543 (GRCm39) I94T probably benign Het
Chd6 T G 2: 160,809,800 (GRCm39) D1487A possibly damaging Het
Edem2 T C 2: 155,550,947 (GRCm39) Y340C probably damaging Het
Fbxl12 C T 9: 20,553,509 (GRCm39) R26H probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Gm5884 A G 6: 128,622,021 (GRCm39) noncoding transcript Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Inpp4b C A 8: 82,711,958 (GRCm39) A425E possibly damaging Het
Kif1a A G 1: 92,974,464 (GRCm39) Y964H probably damaging Het
Lrp1b A C 2: 41,660,911 (GRCm39) C66G probably damaging Het
Lrp4 A G 2: 91,321,075 (GRCm39) I1034V probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mmrn2 T C 14: 34,124,879 (GRCm39) V820A possibly damaging Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mroh9 A C 1: 162,884,341 (GRCm39) M399R probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp2 G A 5: 65,964,441 (GRCm39) G830D probably benign Het
Nagpa G A 16: 5,021,651 (GRCm39) probably benign Het
Or52b1 C T 7: 104,979,067 (GRCm39) V111M probably damaging Het
Or5g23 G A 2: 85,438,754 (GRCm39) P167S probably benign Het
Oxgr1 T A 14: 120,260,221 (GRCm39) probably benign Het
Parp3 T A 9: 106,350,924 (GRCm39) R323W possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Pfkp C T 13: 6,643,279 (GRCm39) G513D probably damaging Het
Pla2g4d T C 2: 120,112,108 (GRCm39) probably benign Het
Rtl1 T C 12: 109,557,582 (GRCm39) E1419G unknown Het
Sdf2 G C 11: 78,145,680 (GRCm39) V126L probably damaging Het
Sgk2 T G 2: 162,841,115 (GRCm39) L175R probably damaging Het
Sgk2 C A 2: 162,841,125 (GRCm39) F178L probably damaging Het
Sim1 T C 10: 50,785,911 (GRCm39) Y255H probably benign Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc38a3 A T 9: 107,534,886 (GRCm39) I163N probably damaging Het
Slc39a4 A G 15: 76,500,870 (GRCm39) L31P probably damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Slfnl1 G T 4: 120,390,275 (GRCm39) probably benign Het
Stradb G A 1: 59,031,828 (GRCm39) V247M probably benign Het
Styk1 T A 6: 131,289,967 (GRCm39) probably benign Het
Sult1d1 A G 5: 87,707,614 (GRCm39) probably benign Het
Syk C T 13: 52,765,157 (GRCm39) P95S probably benign Het
Taar2 T A 10: 23,817,454 (GRCm39) N331K probably benign Het
Thsd7b A G 1: 130,117,587 (GRCm39) probably benign Het
Tmbim7 G A 5: 3,723,188 (GRCm39) probably null Het
Tmem107 T C 11: 68,962,247 (GRCm39) L68P probably damaging Het
Tmem184c A T 8: 78,331,276 (GRCm39) C158S probably damaging Het
Tmpo A G 10: 90,988,548 (GRCm39) I310T probably benign Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Xirp1 T C 9: 119,847,767 (GRCm39) E372G possibly damaging Het
Zbtb5 T C 4: 44,994,790 (GRCm39) E198G probably damaging Het
Zfp804a A G 2: 82,066,160 (GRCm39) N44D 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
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'- AGCCCCTTGGAACCTAGTTC -3'
(R):5'- TAGGTCTTCTCAAGTACCTCCAGC -3'

Sequencing Primer
(F):5'- AGTTCCTCCATGAAGCTCACAGTG -3'
(R):5'- TTCTCCCGAGGGTGCACTG -3'
Posted On 2014-12-29