Incidental Mutation 'IGL03065:Als2'
ID 409630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Als2
Ensembl Gene ENSMUSG00000026024
Gene Name alsin Rho guanine nucleotide exchange factor
Synonyms Als2cr6, 3222402C23Rik, Alsin, 9430073A21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.767) question?
Stock # IGL03065
Quality Score
Status
Chromosome 1
Chromosomal Location 59202085-59276390 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59255031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 109 (S109G)
Ref Sequence ENSEMBL: ENSMUSP00000125753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000160945] [ENSMUST00000163058]
AlphaFold Q920R0
Predicted Effect probably benign
Transcript: ENSMUST00000027178
AA Change: S109G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024
AA Change: S109G

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 1.1e-9 PFAM
Pfam:RCC1 109 165 9.5e-11 PFAM
Pfam:RCC1 170 216 6.6e-11 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 5.4e-13 PFAM
Pfam:RCC1_2 555 584 8.3e-12 PFAM
Pfam:RCC1 571 619 3.4e-11 PFAM
Pfam:RhoGEF 688 877 6.5e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 8.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159166
Predicted Effect probably benign
Transcript: ENSMUST00000160945
SMART Domains Protein: ENSMUSP00000140990
Gene: ENSMUSG00000026024

DomainStartEndE-ValueType
Pfam:RCC1 1 52 3.3e-8 PFAM
Pfam:RCC1_2 39 66 4.1e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163058
AA Change: S109G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024
AA Change: S109G

DomainStartEndE-ValueType
Pfam:RCC1_2 93 122 9.9e-10 PFAM
Pfam:RCC1 109 165 9.5e-12 PFAM
Pfam:RCC1 170 216 4.9e-12 PFAM
low complexity region 268 282 N/A INTRINSIC
low complexity region 465 483 N/A INTRINSIC
Pfam:RCC1 521 568 4.6e-14 PFAM
Pfam:RCC1_2 555 584 1.2e-11 PFAM
Pfam:RCC1 571 619 8.6e-11 PFAM
Pfam:RhoGEF 688 877 2.6e-10 PFAM
PH 895 1001 2.17e0 SMART
MORN 1041 1062 1.34e-5 SMART
MORN 1064 1085 1.95e-1 SMART
MORN 1092 1113 6.68e-6 SMART
MORN 1115 1136 9.39e0 SMART
MORN 1143 1164 1.49e1 SMART
MORN 1167 1188 1.13e1 SMART
MORN 1190 1211 2.28e0 SMART
MORN 1213 1235 5.95e1 SMART
low complexity region 1470 1483 N/A INTRINSIC
Pfam:VPS9 1546 1650 1e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188469
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Heph T A X: 95,571,173 (GRCm39) I669N probably benign Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Als2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Als2 APN 1 59,209,055 (GRCm39) nonsense probably null
IGL00924:Als2 APN 1 59,255,021 (GRCm39) missense probably benign 0.03
IGL00949:Als2 APN 1 59,254,731 (GRCm39) missense probably damaging 1.00
IGL00950:Als2 APN 1 59,254,541 (GRCm39) missense probably benign 0.01
IGL01090:Als2 APN 1 59,254,775 (GRCm39) missense possibly damaging 0.81
IGL01116:Als2 APN 1 59,225,163 (GRCm39) splice site probably benign
IGL02001:Als2 APN 1 59,219,347 (GRCm39) splice site probably benign
IGL02075:Als2 APN 1 59,246,945 (GRCm39) missense probably damaging 1.00
IGL02441:Als2 APN 1 59,254,631 (GRCm39) missense probably damaging 0.98
IGL02728:Als2 APN 1 59,235,506 (GRCm39) missense probably benign 0.00
IGL02740:Als2 APN 1 59,209,078 (GRCm39) missense probably benign 0.01
IGL02885:Als2 APN 1 59,206,650 (GRCm39) missense probably benign 0.30
IGL02896:Als2 APN 1 59,222,946 (GRCm39) missense probably benign 0.17
IGL02978:Als2 APN 1 59,254,324 (GRCm39) missense probably benign 0.32
IGL03032:Als2 APN 1 59,255,189 (GRCm39) splice site probably benign
IGL03212:Als2 APN 1 59,242,085 (GRCm39) missense probably benign 0.00
IGL03226:Als2 APN 1 59,225,679 (GRCm39) missense probably benign 0.43
R0014:Als2 UTSW 1 59,250,547 (GRCm39) missense possibly damaging 0.53
R0243:Als2 UTSW 1 59,254,546 (GRCm39) missense probably benign
R0326:Als2 UTSW 1 59,219,742 (GRCm39) missense probably damaging 1.00
R0376:Als2 UTSW 1 59,254,724 (GRCm39) missense probably benign 0.00
R0605:Als2 UTSW 1 59,207,573 (GRCm39) missense probably benign 0.02
R1607:Als2 UTSW 1 59,219,306 (GRCm39) missense probably damaging 1.00
R1631:Als2 UTSW 1 59,257,226 (GRCm39) missense probably benign 0.00
R1657:Als2 UTSW 1 59,219,760 (GRCm39) missense probably damaging 1.00
R1763:Als2 UTSW 1 59,214,150 (GRCm39) missense probably benign
R1950:Als2 UTSW 1 59,224,760 (GRCm39) critical splice acceptor site probably null
R1970:Als2 UTSW 1 59,254,328 (GRCm39) missense probably benign 0.34
R2151:Als2 UTSW 1 59,246,948 (GRCm39) missense probably damaging 1.00
R2292:Als2 UTSW 1 59,226,544 (GRCm39) missense probably damaging 1.00
R2513:Als2 UTSW 1 59,254,276 (GRCm39) missense probably benign 0.00
R2849:Als2 UTSW 1 59,245,697 (GRCm39) missense probably damaging 0.97
R2869:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2869:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2870:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2870:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2872:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2872:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R2873:Als2 UTSW 1 59,250,296 (GRCm39) missense probably damaging 1.00
R3054:Als2 UTSW 1 59,254,653 (GRCm39) missense probably damaging 1.00
R3081:Als2 UTSW 1 59,226,508 (GRCm39) missense probably damaging 1.00
R3176:Als2 UTSW 1 59,209,167 (GRCm39) missense possibly damaging 0.88
R3276:Als2 UTSW 1 59,209,167 (GRCm39) missense possibly damaging 0.88
R3801:Als2 UTSW 1 59,206,358 (GRCm39) missense probably damaging 1.00
R3803:Als2 UTSW 1 59,206,358 (GRCm39) missense probably damaging 1.00
R3808:Als2 UTSW 1 59,209,609 (GRCm39) missense probably benign 0.08
R3884:Als2 UTSW 1 59,224,727 (GRCm39) missense probably damaging 0.99
R4012:Als2 UTSW 1 59,226,575 (GRCm39) missense probably benign 0.09
R4033:Als2 UTSW 1 59,235,400 (GRCm39) missense probably benign
R4201:Als2 UTSW 1 59,219,313 (GRCm39) missense possibly damaging 0.77
R4321:Als2 UTSW 1 59,206,613 (GRCm39) splice site probably benign
R4707:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4784:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4785:Als2 UTSW 1 59,254,472 (GRCm39) missense probably benign
R4991:Als2 UTSW 1 59,246,927 (GRCm39) missense probably benign 0.10
R5068:Als2 UTSW 1 59,250,433 (GRCm39) missense probably benign 0.13
R5110:Als2 UTSW 1 59,224,600 (GRCm39) missense probably damaging 0.98
R5141:Als2 UTSW 1 59,209,611 (GRCm39) missense possibly damaging 0.80
R5394:Als2 UTSW 1 59,214,105 (GRCm39) missense probably benign 0.06
R5621:Als2 UTSW 1 59,231,049 (GRCm39) missense probably benign 0.33
R5685:Als2 UTSW 1 59,218,250 (GRCm39) missense possibly damaging 0.73
R5987:Als2 UTSW 1 59,245,746 (GRCm39) missense probably damaging 1.00
R6012:Als2 UTSW 1 59,224,374 (GRCm39) missense probably damaging 1.00
R6118:Als2 UTSW 1 59,242,228 (GRCm39) missense possibly damaging 0.62
R6222:Als2 UTSW 1 59,219,284 (GRCm39) missense probably benign 0.04
R6367:Als2 UTSW 1 59,238,299 (GRCm39) missense probably benign 0.04
R6394:Als2 UTSW 1 59,206,356 (GRCm39) missense probably damaging 0.99
R6866:Als2 UTSW 1 59,250,292 (GRCm39) missense probably damaging 1.00
R6965:Als2 UTSW 1 59,209,716 (GRCm39) missense possibly damaging 0.70
R7038:Als2 UTSW 1 59,206,673 (GRCm39) missense possibly damaging 0.94
R7178:Als2 UTSW 1 59,246,971 (GRCm39) missense probably damaging 0.96
R7494:Als2 UTSW 1 59,222,325 (GRCm39) splice site probably null
R7541:Als2 UTSW 1 59,206,775 (GRCm39) splice site probably null
R7601:Als2 UTSW 1 59,209,161 (GRCm39) missense probably benign 0.17
R8380:Als2 UTSW 1 59,250,467 (GRCm39) missense probably benign
R8478:Als2 UTSW 1 59,225,175 (GRCm39) missense probably damaging 0.96
R8492:Als2 UTSW 1 59,250,503 (GRCm39) missense probably damaging 0.98
R9048:Als2 UTSW 1 59,225,670 (GRCm39) missense possibly damaging 0.81
R9090:Als2 UTSW 1 59,242,189 (GRCm39) missense probably benign 0.01
R9128:Als2 UTSW 1 59,219,709 (GRCm39) missense probably benign 0.00
R9206:Als2 UTSW 1 59,224,406 (GRCm39) missense probably damaging 1.00
R9271:Als2 UTSW 1 59,242,189 (GRCm39) missense probably benign 0.01
R9430:Als2 UTSW 1 59,231,198 (GRCm39) missense probably benign 0.00
R9455:Als2 UTSW 1 59,219,296 (GRCm39) missense probably damaging 1.00
R9482:Als2 UTSW 1 59,231,109 (GRCm39) missense probably damaging 1.00
R9494:Als2 UTSW 1 59,206,664 (GRCm39) missense probably damaging 1.00
R9544:Als2 UTSW 1 59,250,468 (GRCm39) missense probably benign 0.00
R9796:Als2 UTSW 1 59,209,601 (GRCm39) missense probably benign 0.04
Posted On 2016-08-02