Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02896:Als2'

363397

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 #

IGL02896

Quality Score

Status

Chromosome

Chromosomal Location

59202085-59276390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59222946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1108 (V1108A)

Ref Sequence

ENSEMBL: ENSMUSP00000125753 (fasta)

Gene Model

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

AlphaFold

Q920R0

Predicted Effect

probably benign
Transcript: ENSMUST00000027178
AA Change: V1108A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027178
Gene: ENSMUSG00000026024
AA Change: V1108A

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

probably benign
Transcript: ENSMUST00000163058
AA Change: V1108A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125753
Gene: ENSMUSG00000026024
AA Change: V1108A

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,315,648 (GRCm39)	D246G	probably damaging	Het
Adcy2	A	G	13: 68,875,991 (GRCm39)	S504P	probably damaging	Het
Adgrv1	A	T	13: 81,668,858 (GRCm39)	I2566K	probably damaging	Het
Atad2b	T	A	12: 5,008,151 (GRCm39)	F466I	probably damaging	Het
Cyp2a22	T	C	7: 26,635,886 (GRCm39)	M226V	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,326 (GRCm39)	D1023G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,205 (GRCm39)	I232V	probably benign	Het
Dolpp1	T	C	2: 30,286,242 (GRCm39)	S114P	probably damaging	Het
Fars2	T	A	13: 36,388,825 (GRCm39)	S105T	probably benign	Het
Fndc7	T	C	3: 108,770,247 (GRCm39)	I560V	probably benign	Het
Gcn1	T	C	5: 115,757,707 (GRCm39)		probably benign	Het
Gm5134	T	C	10: 75,810,058 (GRCm39)	L113P	possibly damaging	Het
Hipk2	G	T	6: 38,675,382 (GRCm39)	H1066Q	probably damaging	Het
Katnb1	A	G	8: 95,822,656 (GRCm39)		probably benign	Het
Lrrd1	T	A	5: 3,901,473 (GRCm39)	S593T	probably benign	Het
Mastl	T	C	2: 23,021,779 (GRCm39)	R713G	probably damaging	Het
Meak7	T	C	8: 120,489,164 (GRCm39)	D373G	probably damaging	Het
Mrgpra6	T	A	7: 46,838,655 (GRCm39)	D181V	probably benign	Het
Mroh7	C	T	4: 106,557,013 (GRCm39)	V828I	possibly damaging	Het
Nbeal2	A	G	9: 110,468,360 (GRCm39)		probably null	Het
Nckap5l	G	T	15: 99,325,091 (GRCm39)	Q471K	possibly damaging	Het
Or12j5	T	C	7: 140,083,968 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,459,217 (GRCm39)	L202F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,353 (GRCm39)	L224*	probably null	Het
Pfn4	A	G	12: 4,825,451 (GRCm39)	N96S	probably benign	Het
Ppp1r3c	G	A	19: 36,710,865 (GRCm39)	P302S	probably benign	Het
Senp2	T	G	16: 21,837,118 (GRCm39)	Y122*	probably null	Het
Slc5a7	C	A	17: 54,600,045 (GRCm39)	G123*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tent2	A	T	13: 93,304,945 (GRCm39)	N280K	probably damaging	Het
Th	C	T	7: 142,449,168 (GRCm39)	R289Q	probably damaging	Het
Tigit	C	T	16: 43,482,561 (GRCm39)	V58I	probably benign	Het
Ush1c	C	A	7: 45,847,839 (GRCm39)	V810L	probably benign	Het
Vmn2r120	C	A	17: 57,816,008 (GRCm39)	K782N	probably damaging	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
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
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

2015-12-18