Mutagenetix > Incidental Mutation

Incidental Mutation 'R0398:Cbs'

32161

Institutional Source

Beutler Lab

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

MMRRC Submission

038603-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.688) question?

Stock #

R0398 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

31831602-31856170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31836216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 411 (Q411K)

Ref Sequence

ENSEMBL: ENSMUSP00000113209 (fasta)

Gene Model

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

AlphaFold

Q91WT9

Predicted Effect

probably benign
Transcript: ENSMUST00000067801
AA Change: Q411K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: Q411K

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: Q411K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: Q411K

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: Q411K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: Q411K

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

0.0810

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 83.2%

Validation Efficiency

100% (81/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,117,010 (GRCm39)	Q546R	probably null	Het
Acr	T	G	15: 89,458,144 (GRCm39)	V275G	probably damaging	Het
Adam5	A	G	8: 25,303,448 (GRCm39)	Y160H	probably benign	Het
Adcy5	T	A	16: 35,089,438 (GRCm39)	M545K	probably damaging	Het
Aoc2	A	G	11: 101,216,379 (GRCm39)	E154G	possibly damaging	Het
Atg2a	T	G	19: 6,296,608 (GRCm39)	L338R	probably damaging	Het
Atp2a1	T	C	7: 126,049,590 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,644,866 (GRCm39)	S436P	probably benign	Het
Bpnt1	T	C	1: 185,070,355 (GRCm39)	Y16H	probably benign	Het
Cbll1	A	T	12: 31,542,091 (GRCm39)	F90Y	probably damaging	Het
Cdca2	A	C	14: 67,935,411 (GRCm39)	F435V	probably damaging	Het
Cdh13	T	G	8: 120,040,786 (GRCm39)	S664A	probably damaging	Het
Cdk17	T	A	10: 93,073,702 (GRCm39)	V438E	probably benign	Het
Cep295	T	C	9: 15,266,032 (GRCm39)	D40G	possibly damaging	Het
Col6a1	T	C	10: 76,545,952 (GRCm39)	H840R	unknown	Het
Cpa1	A	G	6: 30,645,250 (GRCm39)	T409A	probably benign	Het
Crlf1	G	A	8: 70,951,739 (GRCm39)		probably benign	Het
E2f2	T	A	4: 135,907,855 (GRCm39)	I184N	probably damaging	Het
Ehbp1	T	C	11: 22,045,886 (GRCm39)	D596G	probably damaging	Het
Elapor2	A	G	5: 9,495,367 (GRCm39)	R724G	probably benign	Het
Ets2	A	G	16: 95,517,267 (GRCm39)	Y333C	probably damaging	Het
Fam178b	A	G	1: 36,671,487 (GRCm39)		probably benign	Het
Fndc3b	A	G	3: 27,515,928 (GRCm39)	V626A	probably benign	Het
Gart	G	T	16: 91,436,337 (GRCm39)	A140E	probably damaging	Het
Gbp7	T	C	3: 142,251,274 (GRCm39)	S477P	possibly damaging	Het
Gm16380	T	C	9: 53,791,453 (GRCm39)		noncoding transcript	Het
Hmcn1	C	A	1: 150,674,565 (GRCm39)	R579M	possibly damaging	Het
Hoxb8	A	C	11: 96,173,937 (GRCm39)	H50P	probably damaging	Het
Hspa4	C	T	11: 53,163,706 (GRCm39)		probably null	Het
Hspa4l	G	A	3: 40,711,429 (GRCm39)		probably benign	Het
Hyal4	A	T	6: 24,756,670 (GRCm39)	Y296F	probably damaging	Het
Igsf8	C	A	1: 172,145,066 (GRCm39)	T131K	probably damaging	Het
Ilvbl	C	T	10: 78,415,373 (GRCm39)	P298L	probably damaging	Het
Jak2	T	A	19: 29,259,788 (GRCm39)	I229N	possibly damaging	Het
Kif1b	T	C	4: 149,288,688 (GRCm39)	D1205G	possibly damaging	Het
Lrrc63	T	C	14: 75,363,910 (GRCm39)	R74G	probably benign	Het
Lvrn	A	G	18: 47,013,760 (GRCm39)	T481A	probably benign	Het
Macf1	T	A	4: 123,244,810 (GRCm39)	T7312S	probably damaging	Het
Magel2	C	T	7: 62,030,299 (GRCm39)	Q1068*	probably null	Het
Mrpl3	A	G	9: 104,941,302 (GRCm39)	Y203C	probably damaging	Het
Nek2	T	A	1: 191,559,473 (GRCm39)	I326N	probably benign	Het
Nlrc4	A	C	17: 74,752,915 (GRCm39)	N489K	probably damaging	Het
Nlrp4f	A	T	13: 65,342,732 (GRCm39)	S304R	possibly damaging	Het
Ogfr	C	G	2: 180,235,492 (GRCm39)	R189G	probably damaging	Het
Or52b4i	T	A	7: 102,191,899 (GRCm39)	L252H	probably damaging	Het
Or5p78	T	A	7: 108,212,162 (GRCm39)	I216N	probably benign	Het
Or5w8	A	T	2: 87,688,401 (GRCm39)	N294I	probably damaging	Het
Orm3	A	G	4: 63,275,885 (GRCm39)	S145G	probably benign	Het
Pclo	A	G	5: 14,731,716 (GRCm39)	E3406G	unknown	Het
Pcx	T	G	19: 4,651,638 (GRCm39)	F4C	probably benign	Het
Pgd	C	A	4: 149,238,339 (GRCm39)	G364V	probably damaging	Het
Pla2g12a	C	A	3: 129,684,045 (GRCm39)	D102E	probably benign	Het
Pnpo	A	T	11: 96,833,253 (GRCm39)	C82*	probably null	Het
Prdm1	T	C	10: 44,315,805 (GRCm39)	N792S	probably damaging	Het
Prim2	A	T	1: 33,523,757 (GRCm39)		probably benign	Het
Proca1	C	A	11: 78,096,094 (GRCm39)	P242Q	probably benign	Het
Psmc5	A	G	11: 106,152,370 (GRCm39)	N129S	probably benign	Het
Ptchd4	A	G	17: 42,688,150 (GRCm39)	T231A	possibly damaging	Het
Qrfpr	C	T	3: 36,235,201 (GRCm39)		probably benign	Het
Rab44	G	A	17: 29,364,344 (GRCm39)		probably benign	Het
Racgap1	T	C	15: 99,526,508 (GRCm39)		probably benign	Het
Rapgef4	A	G	2: 71,861,385 (GRCm39)	E25G	probably damaging	Het
Rpl8	G	C	15: 76,789,246 (GRCm39)		probably benign	Het
Samd12	G	A	15: 53,583,116 (GRCm39)	P73S	possibly damaging	Het
Samd9l	T	A	6: 3,374,502 (GRCm39)	N920Y	probably damaging	Het
Sdk1	T	C	5: 141,948,476 (GRCm39)	V607A	probably benign	Het
Slc25a19	A	G	11: 115,508,401 (GRCm39)	Y196H	probably damaging	Het
Slc39a3	A	T	10: 80,869,621 (GRCm39)	M12K	possibly damaging	Het
Slc5a4a	T	C	10: 76,018,556 (GRCm39)	I501T	possibly damaging	Het
Sp4	A	T	12: 118,262,408 (GRCm39)	V546D	possibly damaging	Het
Ssh3	C	T	19: 4,313,727 (GRCm39)	V511M	possibly damaging	Het
Stard9	T	G	2: 120,526,788 (GRCm39)	V1015G	probably benign	Het
Thoc5	G	T	11: 4,871,978 (GRCm39)	V516F	possibly damaging	Het
Ttc21a	T	A	9: 119,783,628 (GRCm39)	I570N	probably damaging	Het
Ttc4	T	C	4: 106,524,770 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Yipf3	A	G	17: 46,562,411 (GRCm39)	E298G	possibly damaging	Het
Zbtb34	C	A	2: 33,301,060 (GRCm39)	E494*	probably null	Het
Zfhx3	A	G	8: 109,677,878 (GRCm39)	Y2976C	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
R0334:Cbs	UTSW	17	31,838,130 (GRCm39)	missense	probably damaging	1.00
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'- TGCACAGTGACAATGAACTAGGGC -3'
(R):5'- TCCTGAGTGACAAATGGATGCTGC -3'

Sequencing Primer
(F):5'- GAGTTACTATGGCCCAATGTCAG -3'
(R):5'- CATGAAAGAGGAGCTCTCAGTG -3'

Posted On

2013-04-24