Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01504:Als2cl'

88987

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Als2cl

Ensembl Gene

ENSMUSG00000044037

Gene Name

ALS2 C-terminal like

Synonyms

D930044G19Rik, mRn.49018

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL01504

Quality Score

Status

Chromosome

Chromosomal Location

110709203-110729598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110718351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 364 (R364Q)

Ref Sequence

ENSEMBL: ENSMUSP00000115718 (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: R364Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: R364Q

Domain	Start	End	E-Value	Type
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: R364Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: R364Q

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000155014
AA Change: R364Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: R364Q

Domain	Start	End	E-Value	Type
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: ENSMUST00000195890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200613

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,231 (GRCm39)	I326N	probably damaging	Het
Acot6	G	A	12: 84,156,176 (GRCm39)	V375M	probably benign	Het
Cpa1	A	T	6: 30,640,720 (GRCm39)	T121S	probably benign	Het
Ctnnbl1	A	G	2: 157,660,036 (GRCm39)		probably benign	Het
Frrs1	C	A	3: 116,694,307 (GRCm39)	Q76K	probably damaging	Het
Gja10	T	A	4: 32,602,375 (GRCm39)	D3V	probably damaging	Het
Insyn2a	T	A	7: 134,519,669 (GRCm39)	Q287L	probably benign	Het
Krt76	T	C	15: 101,796,608 (GRCm39)	E400G	probably damaging	Het
Mdm1	A	G	10: 117,982,505 (GRCm39)	T47A	probably damaging	Het
Ncf2	A	G	1: 152,709,080 (GRCm39)	K336R	probably benign	Het
Ndrg4	C	A	8: 96,432,894 (GRCm39)	L34I	probably damaging	Het
Phf20l1	T	A	15: 66,469,540 (GRCm39)	H148Q	possibly damaging	Het
Rhobtb1	A	G	10: 69,085,528 (GRCm39)	H89R	probably damaging	Het
Sult1e1	T	C	5: 87,724,160 (GRCm39)	N266D	probably damaging	Het
Sult2a2	T	C	7: 13,472,189 (GRCm39)	S129P	probably damaging	Het
Trank1	A	G	9: 111,202,612 (GRCm39)	E1659G	probably damaging	Het
Trpa1	T	G	1: 14,952,443 (GRCm39)	I863L	possibly damaging	Het
Vmn1r177	C	T	7: 23,565,835 (GRCm39)	V14M	probably damaging	Het
Vmn2r14	A	T	5: 109,369,285 (GRCm39)	M96K	probably benign	Het
Zp1	C	T	19: 10,896,375 (GRCm39)	V117M	probably damaging	Het

Other mutations in Als2cl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9070:Als2cl	UTSW	9	110,718,288 (GRCm39)	missense	probably benign
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

Posted On

2013-12-03