Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Cbs'

206614

Institutional Source

Beutler Lab

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31612623-31637199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31624271 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 229 (H229Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113209 (fasta)

Gene Model

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

AlphaFold

Q91WT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067801
AA Change: H229Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: H229Y

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 damaging
Transcript: ENSMUST00000078509
AA Change: H229Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: H229Y

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 damaging
Transcript: ENSMUST00000118504
AA Change: H229Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: H229Y

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

Meta Mutation Damage Score

0.9565

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502	L999*	probably null	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	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	splice site	probably null
IGL02733:Cbs	APN	17	31625031	missense	probably benign	0.01
news	UTSW	17	31624224	splice site	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
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
R8237:Cbs	UTSW	17	31615480	missense	probably benign	0.06
R8990:Cbs	UTSW	17	31615549	missense	probably benign	0.00
R9147:Cbs	UTSW	17	31625915	missense	probably damaging	1.00
R9148:Cbs	UTSW	17	31625915	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CTGAGTTTACCAAGGAGCGG -3'
(R):5'- ACTATCTTGCATGTGAGGGC -3'

Sequencing Primer
(F):5'- AAGACCCATGTTTCTTGCAATGGG -3'
(R):5'- ATGTGAGGGCCCTCGAGATG -3'

Posted On

2014-06-23