Mutagenetix > Incidental Mutations

Incidental Mutation 'R5541:Als2cr12'

486851

Institutional Source

Beutler Lab

Gene Symbol

Als2cr12

Ensembl Gene

ENSMUSG00000047528

Gene Name

amyotrophic lateral sclerosis 2 chromosome region 12

Synonyms

4933425F06Rik, 4933405P16Rik

MMRRC Submission

043099-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58646903-58695989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58658429 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 384 (M384T)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000055313
AA Change: C383R

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: C383R

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: ENSMUST00000185352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188643

Predicted Effect

probably benign
Transcript: ENSMUST00000188772

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

probably benign
Transcript: ENSMUST00000191565
AA Change: M384T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: M384T

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
March10	C	T	11: 105,390,131	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAGTCCGTAGCTTCCTC -3'
(R):5'- CTAGTTGCCAGTCACCATCAC -3'

Sequencing Primer
(F):5'- TAGCTTCCTCCCAGGGCAG -3'
(R):5'- TCCATTGGAAATATGATCTCCCAAAC -3'

Posted On

2017-08-28