Incidental Mutation 'R9070:Als2cl'
ID 689495
Institutional Source Beutler Lab
Gene Symbol Als2cl
Ensembl Gene ENSMUSG00000044037
Gene Name ALS2 C-terminal like
Synonyms D930044G19Rik, mRn.49018
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R9070 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110709203-110729598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110718288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 343 (V343A)
Ref Sequence ENSEMBL: ENSMUSP00000081989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000123389] [ENSMUST00000130386] [ENSMUST00000155014]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084926
AA Change: V343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: V343A

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 benign
Transcript: ENSMUST00000130386
AA Change: V343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: V343A

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: ENSMUST00000155014
AA Change: V343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: V343A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T C 16: 35,100,770 (GRCm39) L774P probably damaging Het
Aldh2 T C 5: 121,707,032 (GRCm39) E495G probably damaging Het
Antxrl T A 14: 33,793,671 (GRCm39) C466* probably null Het
Aoc1l3 A G 6: 48,965,329 (GRCm39) N446D possibly damaging Het
Arc A G 15: 74,543,833 (GRCm39) L130P probably damaging Het
Barhl1 C A 2: 28,805,423 (GRCm39) R90L probably benign Het
Baz2a A G 10: 127,958,931 (GRCm39) M1149V probably benign Het
Bsn G A 9: 107,987,295 (GRCm39) S106L Het
Calu A G 6: 29,356,567 (GRCm39) E31G probably benign Het
Cdh23 T G 10: 60,173,539 (GRCm39) I1650L probably benign Het
Ceacam9 T C 7: 16,457,787 (GRCm39) V100A possibly damaging Het
Dnaaf9 A T 2: 130,654,793 (GRCm39) S159R possibly damaging Het
Dpyd T G 3: 118,792,892 (GRCm39) I533S probably damaging Het
Fam184a T C 10: 53,514,373 (GRCm39) D1016G possibly damaging Het
Fv1 T A 4: 147,954,414 (GRCm39) W327R probably damaging Het
Gbp7 A G 3: 142,249,762 (GRCm39) D411G probably benign Het
Gldc A T 19: 30,080,404 (GRCm39) D885E probably damaging Het
H4c3 A G 13: 23,882,170 (GRCm39) V88A probably damaging Het
Hdgfl2 T C 17: 56,389,371 (GRCm39) W82R possibly damaging Het
Hif1an A G 19: 44,551,458 (GRCm39) S48G probably benign Het
Itgal C T 7: 126,927,873 (GRCm39) R1023W probably null Het
Kif13a C A 13: 46,905,934 (GRCm39) A1618S probably benign Het
Lrrc57 A G 2: 120,436,565 (GRCm39) L181P probably damaging Het
Mptx2 T A 1: 173,102,119 (GRCm39) D190V probably benign Het
Mroh5 A G 15: 73,656,688 (GRCm39) F590L probably damaging Het
Net1 A G 13: 3,936,103 (GRCm39) I381T probably damaging Het
Nipbl T A 15: 8,368,215 (GRCm39) K1169I possibly damaging Het
Nop9 G A 14: 55,990,757 (GRCm39) R563H probably damaging Het
Obscn A T 11: 59,013,457 (GRCm39) L1130Q probably damaging Het
Or1j13 A T 2: 36,369,268 (GRCm39) S291R probably damaging Het
Or2b2b A T 13: 21,858,985 (GRCm39) M43K probably benign Het
Pcgf1 T A 6: 83,057,076 (GRCm39) H202Q probably damaging Het
Pcnx3 A G 19: 5,715,601 (GRCm39) L1883P probably benign Het
Pde4b T C 4: 102,458,994 (GRCm39) S505P probably damaging Het
Pitpnm2 C A 5: 124,259,375 (GRCm39) R1320L probably damaging Het
Plscr4 C A 9: 92,372,281 (GRCm39) probably benign Het
Pot1a C T 6: 25,744,629 (GRCm39) R625Q Het
Pou4f1 A G 14: 104,704,067 (GRCm39) S122P probably damaging Het
Ppl A G 16: 4,907,208 (GRCm39) V1029A probably benign Het
Prex1 A G 2: 166,427,707 (GRCm39) F982L probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rbks A G 5: 31,854,890 (GRCm39) V19A probably benign Het
Rps18-ps5 A G 13: 28,441,902 (GRCm39) Y95C probably benign Het
Rps20 A T 4: 3,835,280 (GRCm39) D5E probably benign Het
Sacs C A 14: 61,447,751 (GRCm39) P3266T probably benign Het
Septin7 A G 9: 25,175,507 (GRCm39) probably benign Het
Slc28a2b A G 2: 122,352,154 (GRCm39) T331A probably damaging Het
Tasor T C 14: 27,194,484 (GRCm39) V1228A probably benign Het
Trdv5 T C 14: 54,386,258 (GRCm39) D69G probably damaging Het
Treml4 G T 17: 48,576,781 (GRCm39) G180C 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
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
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'- GCATTGAGGAGATGGGACTC -3'
(R):5'- GCAACACCAAGCTTTAGGAGAC -3'

Sequencing Primer
(F):5'- CCTGGGAGGCCTCTTTAGG -3'
(R):5'- CCAAGCTTTAGGAGACTGACTC -3'
Posted On 2021-11-19