Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Cbs'

26181

Institutional Source

Beutler Lab

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R0334 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

31831602-31856170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31838130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000113209 (fasta)

Gene Model

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

AlphaFold

Q91WT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000067801
AA Change: D373G

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

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: D373G

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: D373G

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

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: D373G

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: D373G

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

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: D373G

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

noncoding transcript
Transcript: ENSMUST00000143982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151597

Meta Mutation Damage Score

0.9626

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	Het

Other mutations in Cbs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Cbs	APN	17	31,840,488 (GRCm39)	missense	possibly damaging	0.90
IGL02030:Cbs	APN	17	31,844,463 (GRCm39)	critical splice donor site	probably null
IGL02089:Cbs	APN	17	31,834,519 (GRCm39)	missense	probably benign	0.13
IGL02274:Cbs	APN	17	31,844,922 (GRCm39)	splice site	probably null
IGL02733:Cbs	APN	17	31,844,005 (GRCm39)	missense	probably benign	0.01
news	UTSW	17	31,843,198 (GRCm39)	splice site	probably null
PIT4418001:Cbs	UTSW	17	31,834,495 (GRCm39)	missense	possibly damaging	0.89
R0398:Cbs	UTSW	17	31,836,216 (GRCm39)	missense	probably benign	0.01
R0466:Cbs	UTSW	17	31,835,126 (GRCm39)	missense	probably benign
R0732:Cbs	UTSW	17	31,844,003 (GRCm39)	missense	probably benign	0.00
R1125:Cbs	UTSW	17	31,851,805 (GRCm39)	missense	probably benign	0.00
R1586:Cbs	UTSW	17	31,841,448 (GRCm39)	missense	probably damaging	1.00
R1646:Cbs	UTSW	17	31,832,169 (GRCm39)	missense	probably benign	0.00
R1728:Cbs	UTSW	17	31,839,923 (GRCm39)	missense	probably benign	0.35
R1729:Cbs	UTSW	17	31,839,923 (GRCm39)	missense	probably benign	0.35
R1784:Cbs	UTSW	17	31,839,923 (GRCm39)	missense	probably benign	0.35
R1823:Cbs	UTSW	17	31,843,245 (GRCm39)	missense	probably damaging	1.00
R2200:Cbs	UTSW	17	31,843,238 (GRCm39)	missense	probably damaging	1.00
R3829:Cbs	UTSW	17	31,836,355 (GRCm39)	splice site	probably benign
R3892:Cbs	UTSW	17	31,835,048 (GRCm39)	missense	probably benign	0.06
R4073:Cbs	UTSW	17	31,851,979 (GRCm39)	missense	possibly damaging	0.80
R4089:Cbs	UTSW	17	31,851,980 (GRCm39)	missense	probably benign	0.03
R4799:Cbs	UTSW	17	31,851,826 (GRCm39)	missense	probably damaging	0.99
R5029:Cbs	UTSW	17	31,834,456 (GRCm39)	missense	possibly damaging	0.85
R5194:Cbs	UTSW	17	31,843,198 (GRCm39)	splice site	probably null
R5244:Cbs	UTSW	17	31,836,134 (GRCm39)	missense	probably damaging	1.00
R5660:Cbs	UTSW	17	31,843,220 (GRCm39)	missense	probably damaging	1.00
R5890:Cbs	UTSW	17	31,832,193 (GRCm39)	missense	probably damaging	0.97
R5935:Cbs	UTSW	17	31,851,853 (GRCm39)	missense	probably damaging	0.98
R5936:Cbs	UTSW	17	31,844,068 (GRCm39)	missense	probably damaging	0.98
R6891:Cbs	UTSW	17	31,841,431 (GRCm39)	missense	probably damaging	1.00
R7126:Cbs	UTSW	17	31,838,113 (GRCm39)	missense	probably benign	0.09
R7220:Cbs	UTSW	17	31,838,191 (GRCm39)	missense	probably benign	0.00
R7343:Cbs	UTSW	17	31,838,113 (GRCm39)	missense	possibly damaging	0.74
R8237:Cbs	UTSW	17	31,834,454 (GRCm39)	missense	probably benign	0.06
R8990:Cbs	UTSW	17	31,834,523 (GRCm39)	missense	probably benign	0.00
R9147:Cbs	UTSW	17	31,844,889 (GRCm39)	missense	probably damaging	1.00
R9148:Cbs	UTSW	17	31,844,889 (GRCm39)	missense	probably damaging	1.00
X0025:Cbs	UTSW	17	31,835,111 (GRCm39)	missense	possibly damaging	0.94
X0057:Cbs	UTSW	17	31,851,944 (GRCm39)	missense	probably benign	0.01
X0067:Cbs	UTSW	17	31,846,529 (GRCm39)	missense	probably damaging	1.00
Z1177:Cbs	UTSW	17	31,844,856 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGGCTCAGAAGCCATGAC -3'
(R):5'- TGTGAGCATGTGTGAGATGCACAG -3'

Sequencing Primer
(F):5'- ACAGCACTTAGGTGACAGCA -3'
(R):5'- tgtgagATGCACAGGGCTG -3'

Posted On

2013-04-16