Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Als2cr12'

102467

Institutional Source

Beutler Lab

Gene Symbol

Als2cr12

Ensembl Gene

ENSMUSG00000047528

Gene Name

amyotrophic lateral sclerosis 2 chromosome region 12

Synonyms

4933425F06Rik, 4933405P16Rik

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58646903-58695989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58669463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 215 (Y215N)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055313] [ENSMUST00000188772] [ENSMUST00000191252] [ENSMUST00000191565]

AlphaFold

Q8BVM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055313
AA Change: Y215N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: Y215N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185953

Predicted Effect

probably damaging
Transcript: ENSMUST00000188772
AA Change: Y215N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: Y215N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

probably damaging
Transcript: ENSMUST00000191565
AA Change: Y215N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: Y215N

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC

Meta Mutation Damage Score

0.2527

Coding Region Coverage

1x: 99.4%
3x: 97.7%
10x: 89.5%
20x: 66.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	G	1: 85,099,505	K113N	probably benign	Het
Adam20	T	C	8: 40,795,618	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,752,541	N290K	possibly damaging	Het
Ano8	C	A	8: 71,482,017	V447F	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Ash1l	A	T	3: 88,984,887	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 45,944,084	K837E	possibly damaging	Het
Cd19	T	A	7: 126,411,045	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,258,281	V473I	possibly damaging	Het
Chd6	C	T	2: 160,990,271	E994K	probably damaging	Het
Col5a2	G	T	1: 45,376,771	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,340,266	D3720G	probably damaging	Het
Dsel	T	C	1: 111,862,209	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Hrg	G	T	16: 22,961,004	C344F	probably damaging	Het
Htt	T	C	5: 34,851,252	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,324,387	I784F	probably damaging	Het
Kifc3	T	C	8: 95,137,918	T55A	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Olfr434	A	T	6: 43,217,212	T100S	probably damaging	Het
Olfr692	G	A	7: 105,369,277	R308Q	probably benign	Het
Oog3	A	G	4: 144,158,412	F318S	possibly damaging	Het
Pde5a	C	T	3: 122,794,313	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,537,441	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,375,847	D731G	probably damaging	Het
Ptk6	C	T	2: 181,195,797	G443D	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,423,504	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,702,480	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,544,140	Y290C	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc6a11	T	A	6: 114,244,870	I507N	possibly damaging	Het
Sybu	A	T	15: 44,746,255	F78I	probably damaging	Het
Tox	A	T	4: 6,823,055	N87K	possibly damaging	Het
Trrap	G	A	5: 144,804,766	G1308R	probably damaging	Het
Trub2	A	G	2: 29,787,632		probably benign	Het
Vmn2r114	A	T	17: 23,311,063	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,293,206	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,554,145	E519K	probably benign	Het
Zfp106	A	T	2: 120,520,536	C1545S	probably damaging	Het

Other mutations in Als2cr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Als2cr12	APN	1	58670394	missense	probably damaging	0.98
IGL02549:Als2cr12	APN	1	58659282	missense	probably benign	0.05
IGL02647:Als2cr12	APN	1	58670454	missense	probably benign
IGL03098:Als2cr12	UTSW	1	58691749	missense	probably benign	0.06
PIT4504001:Als2cr12	UTSW	1	58659099	missense	probably benign	0.20
R1147:Als2cr12	UTSW	1	58669463	missense	probably damaging	0.99
R1959:Als2cr12	UTSW	1	58659278	missense	possibly damaging	0.92
R1960:Als2cr12	UTSW	1	58659278	missense	possibly damaging	0.92
R3815:Als2cr12	UTSW	1	58659005	missense	probably damaging	0.98
R4445:Als2cr12	UTSW	1	58666921	missense	possibly damaging	0.83
R4617:Als2cr12	UTSW	1	58661442	missense	probably benign	0.19
R4720:Als2cr12	UTSW	1	58678348	missense	possibly damaging	0.46
R4816:Als2cr12	UTSW	1	58670408	missense	probably benign	0.10
R4947:Als2cr12	UTSW	1	58676539	missense	probably benign	0.05
R4960:Als2cr12	UTSW	1	58667806	missense	probably damaging	0.98
R4970:Als2cr12	UTSW	1	58659282	missense	probably benign	0.05
R5018:Als2cr12	UTSW	1	58690950	missense	probably benign
R5112:Als2cr12	UTSW	1	58659282	missense	probably benign	0.05
R5269:Als2cr12	UTSW	1	58691760	missense	possibly damaging	0.83
R5426:Als2cr12	UTSW	1	58666886	nonsense	probably null
R5541:Als2cr12	UTSW	1	58658429	missense	probably benign	0.03
R5845:Als2cr12	UTSW	1	58667778	missense	possibly damaging	0.46
R5863:Als2cr12	UTSW	1	58691749	missense	probably benign	0.06
R6364:Als2cr12	UTSW	1	58658372	missense	probably damaging	0.96
R6430:Als2cr12	UTSW	1	58678289	missense	probably damaging	0.98
R6527:Als2cr12	UTSW	1	58692413	start codon destroyed	probably null	0.01
R6573:Als2cr12	UTSW	1	58666844	missense	probably benign	0.27
R7367:Als2cr12	UTSW	1	58666864	missense	probably benign	0.07
R7459:Als2cr12	UTSW	1	58691752	missense	possibly damaging	0.46
R7497:Als2cr12	UTSW	1	58678308	missense	probably damaging	1.00
R8317:Als2cr12	UTSW	1	58676548	missense	possibly damaging	0.94
R8925:Als2cr12	UTSW	1	58667723	splice site	probably null
R9542:Als2cr12	UTSW	1	58678345	missense	probably benign	0.10

Predicted Primers

Posted On

2014-01-15