Mutagenetix > Incidental Mutations

Incidental Mutation 'R5863:Als2cr12'

453992

Institutional Source

Beutler Lab

Gene Symbol

Als2cr12

Ensembl Gene

ENSMUSG00000047528

Gene Name

amyotrophic lateral sclerosis 2 chromosome region 12

Synonyms

4933425F06Rik, 4933405P16Rik

MMRRC Submission

043232-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R5863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58646903-58695989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 58691749 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 49 (H49Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140780 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055313
AA Change: H49Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: H49Q

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 benign
Transcript: ENSMUST00000188772
AA Change: H49Q

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: H49Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188839

Predicted Effect

probably benign
Transcript: ENSMUST00000191252
AA Change: H49Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000191565
AA Change: H49Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: H49Q

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

0.0690

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,503,223	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,798,136	I136V	probably benign	Het
Adam6a	T	C	12: 113,544,367	I120T	probably benign	Het
Add3	C	A	19: 53,233,870	L303I	probably benign	Het
Anln	A	G	9: 22,337,984	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,722,845	E394G	unknown	Het
Asns	G	A	6: 7,675,443	Q520*	probably null	Het
Auh	T	G	13: 52,898,658	N141T	probably benign	Het
B3galt2	G	A	1: 143,646,366	R80Q	probably benign	Het
Bcl9	T	C	3: 97,210,350	T343A	probably benign	Het
C3	T	A	17: 57,223,141	I487F	probably benign	Het
Cast	T	C	13: 74,736,756	K326E	probably damaging	Het
Ccdc185	T	A	1: 182,748,557	H189L	possibly damaging	Het
Cep112	A	G	11: 108,606,232	E51G	probably damaging	Het
Cpvl	G	A	6: 53,873,428	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,083,077	L4F	probably damaging	Het
Dido1	A	G	2: 180,661,773	V1446A	probably benign	Het
Dlg2	T	A	7: 91,711,779	M35K	probably benign	Het
Dnah12	C	T	14: 26,854,921	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,014,782	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,125,753	F1443S	probably benign	Het
Gm14226	C	A	2: 155,024,291	T56N	probably benign	Het
Itgb4	C	T	11: 115,990,922	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,565,688	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,722,700	R284C	probably damaging	Het
Nog	A	G	11: 89,301,530	L164P	probably damaging	Het
Olfr46	G	A	7: 140,610,631	G155D	probably damaging	Het
Olfr898	T	C	9: 38,349,787	S235P	probably benign	Het
Pkhd1	T	A	1: 20,520,210	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,203,610	*193K	probably null	Het
Prpf4b	T	A	13: 34,899,128	I829N	possibly damaging	Het
Rassf1	C	T	9: 107,557,824	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,876,387	I238L	probably benign	Het
Sdk2	G	T	11: 113,834,984	D1146E	probably damaging	Het
Slc16a3	T	C	11: 120,957,953	F412L	probably benign	Het
Slc24a1	T	C	9: 64,928,542	T768A	unknown	Het
Stk32a	A	G	18: 43,315,144	N396S	probably benign	Het
Ston1	T	C	17: 88,635,945	S260P	possibly damaging	Het
Tmem135	A	G	7: 89,147,968		probably null	Het
Tmem30c	A	G	16: 57,270,055	V263A	probably benign	Het
Ttn	T	A	2: 76,756,758	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,585,307	I141T	probably damaging	Het
Zfp651	A	G	9: 121,767,530	S651G	probably benign	Het
Zscan20	A	T	4: 128,586,348	C783*	probably null	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
R5541:Als2cr12	UTSW	1	58658429	missense	probably benign	0.03
R5845:Als2cr12	UTSW	1	58667778	missense	possibly damaging	0.46
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'- CTAGGGTAATTTGTTGGCACAG -3'
(R):5'- TCGTGCTGATGACCAGGAGATAG -3'

Sequencing Primer
(F):5'- CAGGGCCTCAGTGAAGAAGTCC -3'
(R):5'- TAGATAAGAACCTGCACCTTGG -3'

Posted On

2017-02-10