Mutagenetix > Incidental Mutation

Incidental Mutation 'R5936:Cbs'

462297

Institutional Source

Beutler Lab

Gene Symbol

Cbs

Ensembl Gene

ENSMUSG00000024039

Gene Name

cystathionine beta-synthase

Synonyms

HIP4

MMRRC Submission

044130-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R5936 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

31831602-31856170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31844068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 188 (T188A)

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: T188A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066878
Gene: ENSMUSG00000024039
AA Change: T188A

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: T188A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077597
Gene: ENSMUSG00000024039
AA Change: T188A

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: T188A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113209
Gene: ENSMUSG00000024039
AA Change: T188A

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 damaging
Transcript: ENSMUST00000155814
AA Change: T188A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118472
Gene: ENSMUSG00000024039
AA Change: T188A

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

Meta Mutation Damage Score

0.8708

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

91% (77/85)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Acnat2	T	C	4: 49,383,362 (GRCm39)	T64A	probably benign	Het
Afap1	A	G	5: 36,131,740 (GRCm39)	N356D	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Alpk2	G	A	18: 65,483,591 (GRCm39)	T139M	probably damaging	Het
Ankrd46	T	C	15: 36,479,428 (GRCm39)	D221G	probably benign	Het
Ano6	T	A	15: 95,870,482 (GRCm39)	L900H	probably damaging	Het
Asphd2	G	A	5: 112,533,623 (GRCm39)	R343*	probably null	Het
Atosa	T	C	9: 74,916,586 (GRCm39)	L395P	probably benign	Het
Brdt	A	G	5: 107,507,261 (GRCm39)	T554A	probably damaging	Het
Cacna1d	A	G	14: 29,893,271 (GRCm39)	V401A	possibly damaging	Het
Cfap54	T	A	10: 92,798,274 (GRCm39)	T1662S	probably benign	Het
Chka	A	G	19: 3,934,580 (GRCm39)	I205V	probably benign	Het
Chsy1	T	A	7: 65,822,025 (GRCm39)	N753K	possibly damaging	Het
Cpz	A	G	5: 35,659,987 (GRCm39)	S553P	probably benign	Het
Crtac1	A	G	19: 42,312,276 (GRCm39)	Y146H	probably damaging	Het
Csf1r	A	T	18: 61,258,880 (GRCm39)	I700F	probably damaging	Het
Ddx20	C	A	3: 105,587,903 (GRCm39)	E392D	possibly damaging	Het
Dhrs11	G	T	11: 84,716,350 (GRCm39)	Y67*	probably null	Het
Diaph3	G	T	14: 87,009,552 (GRCm39)	Q1076K	possibly damaging	Het
Dop1a	T	A	9: 86,418,565 (GRCm39)	L2037*	probably null	Het
Dst	G	T	1: 34,346,539 (GRCm39)	V5336L	probably damaging	Het
Etv1	C	A	12: 38,885,209 (GRCm39)	H248Q	probably damaging	Het
Fcgbp	T	C	7: 27,786,117 (GRCm39)	V518A	probably damaging	Het
Fchsd2	T	C	7: 100,840,908 (GRCm39)	L139S	probably damaging	Het
Fer	A	T	17: 64,231,058 (GRCm39)	T270S	probably benign	Het
Fgd5	A	G	6: 91,964,892 (GRCm39)	E375G	probably damaging	Het
Firrm	T	G	1: 163,814,581 (GRCm39)	I121L	probably benign	Het
Gabarapl1	T	A	6: 129,515,566 (GRCm39)	I68N	probably benign	Het
Gopc	C	T	10: 52,222,295 (GRCm39)	V30M	probably damaging	Het
Hbp1	T	C	12: 31,987,095 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,872,560 (GRCm39)	V2480A	probably damaging	Het
Igfbp3	T	A	11: 7,159,472 (GRCm39)	Y247F	probably damaging	Het
Kbtbd11	C	A	8: 15,077,534 (GRCm39)	S44R	probably benign	Het
Kcnk10	G	T	12: 98,456,191 (GRCm39)	S213R	probably benign	Het
Kcnq3	T	A	15: 65,871,959 (GRCm39)	D570V	probably damaging	Het
Kif21a	A	G	15: 90,819,850 (GRCm39)	F1594S	possibly damaging	Het
Klf3	A	G	5: 64,980,303 (GRCm39)	D31G	probably damaging	Het
Mapkapk3	T	C	9: 107,166,369 (GRCm39)	K59E	probably damaging	Het
Myo18a	A	G	11: 77,709,039 (GRCm39)	T484A	probably damaging	Het
Nlrp6	T	A	7: 140,502,725 (GRCm39)	L277*	probably null	Het
Nr5a1	G	T	2: 38,591,790 (GRCm39)		probably benign	Het
Nsmaf	C	T	4: 6,421,017 (GRCm39)		probably benign	Het
Or4f58	T	A	2: 111,851,932 (GRCm39)	H89L	probably benign	Het
Orc1	A	G	4: 108,459,180 (GRCm39)	T450A	probably benign	Het
Pacsin1	A	T	17: 27,923,971 (GRCm39)	I122F	probably benign	Het
Pced1b	T	A	15: 97,283,061 (GRCm39)	Y367N	possibly damaging	Het
Pced1b	T	A	15: 97,283,063 (GRCm39)	Y367*	probably null	Het
Pdpk1	A	G	17: 24,312,203 (GRCm39)	F281L	probably damaging	Het
Piwil1	T	C	5: 128,828,142 (GRCm39)	V714A	probably benign	Het
Plcd3	C	T	11: 102,969,173 (GRCm39)	V265M	probably damaging	Het
Ppp1r1c	A	T	2: 79,586,798 (GRCm39)	E48V	possibly damaging	Het
Prl2b1	T	G	13: 27,572,432 (GRCm39)	T53P	probably damaging	Het
Ptch2	T	G	4: 116,965,491 (GRCm39)	F359V	probably benign	Het
R3hdm2	G	A	10: 127,307,681 (GRCm39)	S314N	probably damaging	Het
Rictor	A	T	15: 6,813,642 (GRCm39)	S1043C	probably damaging	Het
Rtn4rl2	A	T	2: 84,710,775 (GRCm39)	L163Q	probably damaging	Het
Sarnp	T	A	10: 128,684,640 (GRCm39)	S129T	probably benign	Het
Scube3	A	T	17: 28,384,461 (GRCm39)	K585M	probably damaging	Het
Sgk3	C	T	1: 9,956,045 (GRCm39)		probably benign	Het
Skint6	C	T	4: 112,953,790 (GRCm39)	S458N	probably benign	Het
Slc25a54	A	G	3: 109,005,954 (GRCm39)	H154R	possibly damaging	Het
Sorbs1	A	C	19: 40,313,216 (GRCm39)	I690S	probably damaging	Het
Sqle	C	A	15: 59,202,678 (GRCm39)	A512D	probably damaging	Het
Tedc2	A	C	17: 24,435,315 (GRCm39)	L358R	probably damaging	Het
Tfr2	A	G	5: 137,585,268 (GRCm39)	S767G	probably benign	Het
Thoc5	A	G	11: 4,854,133 (GRCm39)	E27G	probably damaging	Het
Trappc8	A	T	18: 21,007,745 (GRCm39)	F123L	probably damaging	Het
Ube3d	C	T	9: 86,254,512 (GRCm39)	G323D	probably benign	Het
Unc13c	T	A	9: 73,485,774 (GRCm39)	H1642L	probably damaging	Het
Vmn1r10	A	T	6: 57,091,302 (GRCm39)	H298L	probably benign	Het
Xpo4	A	T	14: 57,880,956 (GRCm39)	Y26N	probably benign	Het
Zer1	A	G	2: 29,997,679 (GRCm39)	L409P	probably damaging	Het
Zfyve28	A	T	5: 34,382,332 (GRCm39)	L256Q	probably damaging	Het
Zgrf1	A	G	3: 127,355,902 (GRCm39)	E376G	possibly 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
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
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'- ATCCCTCAGCTTTCCAACAGG -3'
(R):5'- CTGTGTGGCCTCTGCTTTAATAAAAG -3'

Sequencing Primer
(F):5'- TTTCCAACAGGGTCCCCTAGG -3'
(R):5'- AAAGCCTTTCTTTACCAACTAAAAAC -3'

Posted On

2017-02-28