Incidental Mutation 'R1574:Als2cl'
ID202737
Institutional Source Beutler Lab
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: 0.077) question?
Stock #R1574 (G1)
Quality Score164
Status Not validated
Chromosome9
Chromosomal Location110879870-110900530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 110884060 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 6 (E6G)
Ref Sequence ENSEMBL: ENSMUSP00000115718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050958] [ENSMUST00000084926] [ENSMUST00000123389] [ENSMUST00000130386] [ENSMUST00000155014]
Predicted Effect probably benign
Transcript: ENSMUST00000050958
SMART Domains Protein: ENSMUSP00000060148
Gene: ENSMUSG00000049555

DomainStartEndE-ValueType
transmembrane domain 12 31 N/A INTRINSIC
low complexity region 37 44 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084926
AA Change: E6G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: E6G

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: ENSMUST00000123389
AA Change: E6G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000130386
AA Change: E6G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: E6G

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 noncoding transcript
Transcript: ENSMUST00000143416
Predicted Effect probably damaging
Transcript: ENSMUST00000155014
AA Change: E6G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: E6G

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: ENSMUST00000198062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200613
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,787,449 N1276K probably damaging Het
Ankrd12 A T 17: 65,986,274 D721E probably benign Het
Anpep A G 7: 79,838,407 probably null Het
Apeh A T 9: 108,092,726 probably null Het
Apob A T 12: 7,990,839 I655L possibly damaging Het
Atp2b1 T A 10: 98,996,948 L437Q probably damaging Het
Cacna2d3 T A 14: 29,351,822 R222S probably damaging Het
Cdc25b T A 2: 131,191,137 probably benign Het
Cdon A G 9: 35,452,937 probably benign Het
Cenpf C T 1: 189,652,713 D2457N probably damaging Het
Cenpo A T 12: 4,215,433 probably null Het
Ces2b G T 8: 104,835,889 A284S probably benign Het
Clock T C 5: 76,242,832 D311G probably damaging Het
Csmd3 T C 15: 47,695,861 probably null Het
Dbil5 A G 11: 76,218,482 M71V probably benign Het
Ddhd1 A C 14: 45,595,547 L864R probably damaging Het
Ddx19a T C 8: 110,993,111 probably benign Het
Dnah11 A G 12: 118,060,317 C1900R probably damaging Het
Dnah2 A G 11: 69,514,688 V666A probably benign Het
Dnah5 T A 15: 28,252,423 M754K probably benign Het
Dnajc15 A T 14: 77,826,414 S145T probably benign Het
Drap1 A G 19: 5,424,257 F25S probably damaging Het
Fam83e G A 7: 45,726,711 E283K probably damaging Het
Fbxo48 G T 11: 16,953,368 probably benign Het
Fndc3a A T 14: 72,556,557 I892N probably damaging Het
Gcn1l1 A G 5: 115,615,552 T2321A probably benign Het
Gm1110 G T 9: 26,881,126 probably benign Het
Gm5499 T C 17: 87,078,995 noncoding transcript Het
Gmnc G T 16: 26,963,979 probably benign Het
Greb1l A G 18: 10,554,997 D1681G possibly damaging Het
Hc G A 2: 35,000,765 probably benign Het
Hmcn2 A C 2: 31,404,887 T2563P probably damaging Het
Iqcd A T 5: 120,600,235 K39N probably damaging Het
Kank2 A G 9: 21,774,575 S668P probably damaging Het
Kcng1 T A 2: 168,269,041 N68Y probably damaging Het
Kmt5b T A 19: 3,786,633 probably null Het
Lama2 T A 10: 27,324,754 I533F possibly damaging Het
Lcmt1 T A 7: 123,402,908 I132N probably damaging Het
Lrmp T G 6: 145,158,630 probably benign Het
Mad2l2 G T 4: 148,142,972 probably benign Het
Mcph1 T C 8: 18,801,412 I807T probably damaging Het
Mdn1 A G 4: 32,722,315 I2366V probably benign Het
Moxd1 T C 10: 24,300,319 W558R probably damaging Het
Myh13 T C 11: 67,362,581 probably benign Het
Myrf T C 19: 10,225,487 D141G probably damaging Het
Ncoa7 T C 10: 30,694,101 I249M probably damaging Het
Obox5 T C 7: 15,758,633 V171A probably damaging Het
Olfr1352 C A 10: 78,983,986 N32K probably damaging Het
Olfr15 T C 16: 3,839,657 I228T probably damaging Het
Olfr70 A T 4: 43,697,134 V13D possibly damaging Het
Olfr818 A G 10: 129,945,510 L69P probably damaging Het
Olfr988 A T 2: 85,353,899 V9E probably damaging Het
Parp4 A G 14: 56,602,295 T487A probably damaging Het
Pclo A G 5: 14,679,831 probably benign Het
Pcnx2 G A 8: 125,773,930 R1474C probably damaging Het
Prrxl1 A G 14: 32,605,324 probably benign Het
Qtrt2 A G 16: 43,871,832 probably benign Het
Sart1 G A 19: 5,380,259 P788L probably damaging Het
Sdk1 A G 5: 141,998,879 T740A probably benign Het
Serpinb1c T C 13: 32,888,996 D61G possibly damaging Het
Slc24a5 G A 2: 125,080,862 G152S probably damaging Het
Slc6a4 A T 11: 77,019,196 I426F possibly damaging Het
Stk33 C T 7: 109,279,820 V441I probably benign Het
Sult1c2 A G 17: 53,836,899 probably null Het
Tdpoz4 T A 3: 93,796,528 V44E probably benign Het
Tmprss13 C A 9: 45,343,231 T432K probably damaging Het
Traf7 A G 17: 24,510,553 L428P probably damaging Het
Tubb1 T C 2: 174,457,422 I299T probably benign Het
Vmn1r158 A T 7: 22,790,347 W146R probably damaging Het
Vmn1r42 A G 6: 89,845,077 I170T possibly damaging Het
Vmn2r116 A T 17: 23,387,089 H325L probably damaging Het
Zfp516 T A 18: 82,993,175 L1111H possibly damaging Het
Zfp61 C G 7: 24,291,210 K505N probably damaging Het
Zfp653 C A 9: 22,057,978 E331* probably null Het
Zfp949 A T 9: 88,569,777 K467* probably null 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
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 intron probably null
R7052:Als2cl UTSW 9 110898083 missense probably damaging 1.00
R7081:Als2cl UTSW 9 110894582 missense possibly damaging 0.66
X0011:Als2cl UTSW 9 110885011 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGTGAGAAGCTGGACTC -3'
(R):5'- CTAACAAGGGAGAAATCGTATCCC -3'

Sequencing Primer
(F):5'- AGCTGGACTCACTGATTGAC -3'
(R):5'- AGAAATCGTATCCCTGGGGG -3'
Posted On2014-06-23