Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Cbs'

305541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.753) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

31612623-31637199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31625031 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 209 (N209Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067801] [ENSMUST00000078509] [ENSMUST00000118504] [ENSMUST00000135425] [ENSMUST00000151718] [ENSMUST00000155814]

Predicted Effect

probably benign
Transcript: ENSMUST00000067801
AA Change: N209Y

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: N209Y

Domain	Start	End	E-Value	Type
Pfam:PALP	77	373	3.7e-66	PFAM
CBS	417	465	5.9e-11	SMART
Blast:CBS	482	553	1e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000078509
AA Change: N209Y

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: N209Y

Domain	Start	End	E-Value	Type
Pfam:PALP	77	373	3.4e-64	PFAM
CBS	417	465	1.19e-8	SMART
Blast:CBS	483	539	2e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000118504
AA Change: N209Y

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: N209Y

Domain	Start	End	E-Value	Type
Pfam:PALP	77	373	3.4e-64	PFAM
CBS	417	465	1.19e-8	SMART
Blast:CBS	483	539	2e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128351

Predicted Effect

probably benign
Transcript: ENSMUST00000135425

SMART Domains

Protein: ENSMUSP00000118785
Gene: ENSMUSG00000024039

Domain	Start	End	E-Value	Type
Pfam:PALP	77	175	4.1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143982

Predicted Effect

probably benign
Transcript: ENSMUST00000151718

SMART Domains

Protein: ENSMUSP00000117454
Gene: ENSMUSG00000024039

Domain	Start	End	E-Value	Type
PDB:4COO\|B	1	86	2e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000155814

SMART Domains

Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039

Domain	Start	End	E-Value	Type
Pfam:PALP	77	193	2.3e-32	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, butsurvive and breed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het
Zwilch	A	T	9: 64,146,836	N526K	probably benign	Het

Other mutations in Cbs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Cbs	APN	17	31621514	missense	possibly damaging	0.90
IGL02030:Cbs	APN	17	31625489	critical splice donor site	probably null
IGL02089:Cbs	APN	17	31615545	missense	probably benign	0.13
IGL02274:Cbs	APN	17	31625948	unclassified	probably null
PIT4418001:Cbs	UTSW	17	31615521	missense	possibly damaging	0.89
R0334:Cbs	UTSW	17	31619156	missense	probably damaging	1.00
R0398:Cbs	UTSW	17	31617242	missense	probably benign	0.01
R0466:Cbs	UTSW	17	31616152	missense	probably benign
R0732:Cbs	UTSW	17	31625029	missense	probably benign	0.00
R1125:Cbs	UTSW	17	31632831	missense	probably benign	0.00
R1586:Cbs	UTSW	17	31622474	missense	probably damaging	1.00
R1646:Cbs	UTSW	17	31613195	missense	probably benign	0.00
R1728:Cbs	UTSW	17	31620949	missense	probably benign	0.35
R1729:Cbs	UTSW	17	31620949	missense	probably benign	0.35
R1784:Cbs	UTSW	17	31620949	missense	probably benign	0.35
R1823:Cbs	UTSW	17	31624271	missense	probably damaging	1.00
R2200:Cbs	UTSW	17	31624264	missense	probably damaging	1.00
R3829:Cbs	UTSW	17	31617381	splice site	probably benign
R3892:Cbs	UTSW	17	31616074	missense	probably benign	0.06
R4073:Cbs	UTSW	17	31633005	missense	possibly damaging	0.80
R4089:Cbs	UTSW	17	31633006	missense	probably benign	0.03
R4799:Cbs	UTSW	17	31632852	missense	probably damaging	0.99
R5029:Cbs	UTSW	17	31615482	missense	possibly damaging	0.85
R5194:Cbs	UTSW	17	31624224	splice site	probably null
R5244:Cbs	UTSW	17	31617160	missense	probably damaging	1.00
R5660:Cbs	UTSW	17	31624246	missense	probably damaging	1.00
R5890:Cbs	UTSW	17	31613219	missense	probably damaging	0.97
R5935:Cbs	UTSW	17	31632879	missense	probably damaging	0.98
R5936:Cbs	UTSW	17	31625094	missense	probably damaging	0.98
R6891:Cbs	UTSW	17	31622457	missense	probably damaging	1.00
R7126:Cbs	UTSW	17	31619139	missense	probably benign	0.09
R7220:Cbs	UTSW	17	31619217	missense	probably benign	0.00
R7343:Cbs	UTSW	17	31619139	missense	possibly damaging	0.74
X0025:Cbs	UTSW	17	31616137	missense	possibly damaging	0.94
X0057:Cbs	UTSW	17	31632970	missense	probably benign	0.01
X0067:Cbs	UTSW	17	31627555	missense	probably damaging	1.00
Z1177:Cbs	UTSW	17	31625882	critical splice donor site	probably null

Posted On

2015-04-16