Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Cbs'

173915

Institutional Source

Beutler Lab

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.725) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31612623-31637199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31613195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 547 (T547A)

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: T561A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: T561A

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: T547A

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

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: T547A

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: T547A

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

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: T547A

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: ENSMUST00000151597

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	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
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
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'- GTTCTGTGACACCAGAGGAAAGGC -3'
(R):5'- TGTCCCAGACAGCACCTAGCATTC -3'

Sequencing Primer
(F):5'- GGAAAGGCCCTGTAAGCTACTC -3'
(R):5'- GCTGTACTCACATGGCTCAG -3'

Posted On

2014-04-24