Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03032:Als2'

408512

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 #

IGL03032

Quality Score

Status

Chromosome

Chromosomal Location

59202085-59276390 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 59255189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027178] [ENSMUST00000160945] [ENSMUST00000163058]

AlphaFold

Q920R0

Predicted Effect

probably benign
Transcript: ENSMUST00000027178

SMART Domains

Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:RCC1	1	52	3.3e-8	PFAM
Pfam:RCC1_2	39	66	4.1e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163058

SMART Domains

Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024

Domain	Start	End	E-Value	Type
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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 88,119,774 (GRCm39)	Y177F	possibly damaging	Het
Arhgap44	A	G	11: 64,915,038 (GRCm39)	L410P	probably damaging	Het
Atp13a2	C	T	4: 140,727,666 (GRCm39)	A481V	possibly damaging	Het
Bod1l	C	A	5: 41,988,927 (GRCm39)	L393F	probably benign	Het
Cflar	T	A	1: 58,780,179 (GRCm39)	I258N	probably damaging	Het
Col24a1	T	C	3: 145,244,458 (GRCm39)		probably null	Het
Csmd2	A	T	4: 128,412,834 (GRCm39)	N2542I	probably benign	Het
Cyp2b9	T	C	7: 25,898,025 (GRCm39)		probably benign	Het
Dip2c	A	T	13: 9,601,814 (GRCm39)	I258F	probably damaging	Het
Dock7	A	G	4: 98,854,585 (GRCm39)	S1560P	probably benign	Het
Drc7	C	T	8: 95,802,875 (GRCm39)		probably benign	Het
Gm3667	T	A	14: 18,269,522 (GRCm39)	S203C	probably null	Het
Gramd2a	A	G	9: 59,619,410 (GRCm39)	E190G	probably benign	Het
Gstm4	T	C	3: 107,951,263 (GRCm39)	D8G	probably damaging	Het
Heatr5b	A	T	17: 79,067,928 (GRCm39)	M1820K	probably benign	Het
Irs4	A	G	X: 140,505,794 (GRCm39)	Y801H	unknown	Het
Loxhd1	C	T	18: 77,374,169 (GRCm39)	T80I	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Mapk8ip1	T	G	2: 92,216,958 (GRCm39)	K446Q	probably damaging	Het
Mettl21e	C	A	1: 44,249,319 (GRCm39)		probably null	Het
Mmp8	T	A	9: 7,558,530 (GRCm39)		probably benign	Het
Muc19	A	T	15: 91,808,424 (GRCm39)		noncoding transcript	Het
Nipsnap3b	T	A	4: 53,015,016 (GRCm39)	V21E	possibly damaging	Het
Or1j15	C	A	2: 36,458,716 (GRCm39)	Y35*	probably null	Het
Or5al6	A	G	2: 85,977,043 (GRCm39)	F12L	probably damaging	Het
Or7a38	A	T	10: 78,753,471 (GRCm39)	I266F	probably benign	Het
Parp12	G	A	6: 39,064,520 (GRCm39)		probably null	Het
Pramel14	C	A	4: 143,719,815 (GRCm39)	L183F	probably damaging	Het
Rgsl1	T	A	1: 153,701,948 (GRCm39)	T169S	possibly damaging	Het
Rnf38	T	C	4: 44,152,529 (GRCm39)	R12G	probably damaging	Het
Slc9c1	T	C	16: 45,363,624 (GRCm39)		probably benign	Het
Slpi	T	C	2: 164,197,367 (GRCm39)		probably benign	Het
Snx17	G	A	5: 31,353,355 (GRCm39)	V165I	probably benign	Het
Tnfaip3	A	G	10: 18,880,357 (GRCm39)	V570A	probably benign	Het
Vmn1r63	A	G	7: 5,806,350 (GRCm39)	M94T	probably benign	Het
Vmn2r95	A	G	17: 18,672,575 (GRCm39)	I771V	probably benign	Het
Wiz	A	G	17: 32,575,532 (GRCm39)	V868A	probably benign	Het

Other mutations in Als2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03065:Als2	APN	1	59,255,031 (GRCm39)	missense	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