Mutagenetix > Incidental Mutation

Incidental Mutation 'R3761:Als2cl'

270540

Institutional Source

Beutler Lab

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: 0.086) question?

Stock #

R3761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110709203-110729598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110727202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 923 (T923A)

Ref Sequence

ENSEMBL: ENSMUSP00000115718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084926] [ENSMUST00000130386] [ENSMUST00000155014]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084926
AA Change: T923A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: T923A

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 damaging
Transcript: ENSMUST00000130386
AA Change: T923A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: T923A

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 damaging
Transcript: ENSMUST00000155014
AA Change: T923A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: T923A

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc91	A	T	6: 147,464,200 (GRCm39)	D216V	unknown	Het
Clstn3	A	G	6: 124,434,835 (GRCm39)	V360A	possibly damaging	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ehmt2	A	G	17: 35,132,707 (GRCm39)	I1235V	probably damaging	Het
Eif3e	C	T	15: 43,124,480 (GRCm39)	R346H	probably damaging	Het
Esrp2	T	C	8: 106,860,254 (GRCm39)	D301G	probably damaging	Het
Fam174a	G	T	1: 95,241,971 (GRCm39)	V144F	probably damaging	Het
Fbxo31	A	T	8: 122,287,169 (GRCm39)	W135R	possibly damaging	Het
Heatr5b	A	G	17: 79,137,071 (GRCm39)	S150P	probably damaging	Het
Il16	A	G	7: 83,300,093 (GRCm39)	L400S	possibly damaging	Het
Or10d1c	A	T	9: 38,893,662 (GRCm39)	I226N	possibly damaging	Het
Ryr3	A	G	2: 112,585,258 (GRCm39)	F2776S	probably benign	Het
Sema3d	T	C	5: 12,621,004 (GRCm39)	Y537H	probably damaging	Het
Sh3pxd2b	T	C	11: 32,372,750 (GRCm39)	V639A	probably benign	Het
Slc39a10	A	G	1: 46,851,285 (GRCm39)	V735A	possibly damaging	Het
Slc45a2	T	A	15: 11,012,800 (GRCm39)	Y268N	probably benign	Het
Tmco5	A	G	2: 116,717,787 (GRCm39)		probably null	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Wwp1	A	T	4: 19,631,085 (GRCm39)	H649Q	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
IGL01504:Als2cl	APN	9	110,718,351 (GRCm39)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGCCCAGAAAGGAGCC -3'
(R):5'- TTAGGAACAGCTGTCAGCCATG -3'

Sequencing Primer
(F):5'- AGCCAGTCTCATGAGATCTGG -3'
(R):5'- GAACAGCTGTCAGCCATGTTCTG -3'

Posted On

2015-03-18