Mutagenetix > Incidental Mutation

Incidental Mutation 'R8158:Csad'

633395

Institutional Source

Beutler Lab

Gene Symbol

Csad

Ensembl Gene

ENSMUSG00000023044

Gene Name

cysteine sulfinic acid decarboxylase

Synonyms

MMRRC Submission

067584-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8158 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

102085432-102112685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102086197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 445 (M445V)

Ref Sequence

ENSEMBL: ENSMUSP00000023805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023805] [ENSMUST00000230288] [ENSMUST00000230322] [ENSMUST00000230708] [ENSMUST00000231048]

AlphaFold

Q9DBE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023805
AA Change: M445V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: M445V

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	49	417	1.4e-113	PFAM
Pfam:Aminotran_5	120	281	4.9e-7	PFAM
low complexity region	482	490	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230288
AA Change: M415V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000230322

Predicted Effect

probably benign
Transcript: ENSMUST00000230342

Predicted Effect

probably benign
Transcript: ENSMUST00000230708

Predicted Effect

probably benign
Transcript: ENSMUST00000231048

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,469,639 (GRCm39)	S968T	probably benign	Het
Adcy8	T	C	15: 64,655,655 (GRCm39)	D608G	probably benign	Het
Adgb	C	T	10: 10,254,478 (GRCm39)	V1162M	probably benign	Het
Agrn	A	G	4: 156,258,346 (GRCm39)	V1040A	probably benign	Het
Amer3	A	T	1: 34,626,741 (GRCm39)	T327S	possibly damaging	Het
Apaf1	C	T	10: 90,895,520 (GRCm39)	C426Y	probably benign	Het
Bsn	T	C	9: 107,987,232 (GRCm39)	D2840G	unknown	Het
Camsap1	A	T	2: 25,834,440 (GRCm39)	C406*	probably null	Het
Cbr2	A	T	11: 120,621,123 (GRCm39)	M158K	probably damaging	Het
Cgrrf1	T	C	14: 47,091,192 (GRCm39)	S239P	probably benign	Het
Clnk	C	A	5: 38,952,254 (GRCm39)		probably null	Het
Dnajb7	T	A	15: 81,291,600 (GRCm39)	N246Y	probably damaging	Het
Dok6	T	C	18: 89,492,071 (GRCm39)	I169V	probably benign	Het
H2bc14	T	C	13: 21,906,631 (GRCm39)	Y122H	probably benign	Het
Il1f10	T	G	2: 24,181,267 (GRCm39)	I11R	possibly damaging	Het
Irs1	C	T	1: 82,267,254 (GRCm39)	V321M	probably damaging	Het
Itga9	T	C	9: 118,706,211 (GRCm39)	F938L	probably damaging	Het
Kif7	T	C	7: 79,354,442 (GRCm39)	D781G	probably damaging	Het
Klhl41	A	T	2: 69,501,505 (GRCm39)	N322I	probably damaging	Het
Krtap31-1	T	G	11: 99,798,901 (GRCm39)	C35G	possibly damaging	Het
Lsm11	A	T	11: 45,824,824 (GRCm39)	D234E	probably benign	Het
Med6	T	C	12: 81,620,677 (GRCm39)	K223R	probably benign	Het
Mfsd4b2	G	A	10: 39,798,064 (GRCm39)	T97I	probably benign	Het
Mrgpra1	A	T	7: 46,985,204 (GRCm39)	C158*	probably null	Het
Nr2e1	T	C	10: 42,458,881 (GRCm39)	T8A	probably benign	Het
Oas2	T	C	5: 120,887,838 (GRCm39)	M1V	probably null	Het
Or13a27	T	C	7: 139,925,162 (GRCm39)	I247V	probably benign	Het
Or14a260	T	A	7: 85,984,885 (GRCm39)	I240F	probably benign	Het
Or1e33	T	A	11: 73,738,697 (GRCm39)	M85L	probably benign	Het
Or8k17	T	C	2: 86,066,504 (GRCm39)	Y218C	probably damaging	Het
Or8w1	T	A	2: 87,465,233 (GRCm39)	N286I	probably damaging	Het
Otof	C	T	5: 30,537,538 (GRCm39)	G1257D	probably benign	Het
Phf2	T	C	13: 48,971,236 (GRCm39)	T479A	probably benign	Het
Pik3c2a	T	C	7: 115,942,232 (GRCm39)	N1516S	probably benign	Het
Qrich1	C	A	9: 108,433,236 (GRCm39)	T622K	probably damaging	Het
Rasip1	A	G	7: 45,281,943 (GRCm39)	K482R	probably damaging	Het
Rgl2	T	C	17: 34,155,918 (GRCm39)	F698L	probably benign	Het
Scarb1	T	C	5: 125,380,201 (GRCm39)	D124G	probably benign	Het
Sclt1	A	G	3: 41,625,917 (GRCm39)	I350T	probably benign	Het
Sec23ip	T	G	7: 128,369,364 (GRCm39)	V696G	probably damaging	Het
Serpina1e	G	T	12: 103,917,354 (GRCm39)	T105K	probably benign	Het
Sin3a	A	G	9: 57,020,828 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,218,182 (GRCm39)	T154A	probably damaging	Het
Slc9a3	T	C	13: 74,303,241 (GRCm39)	L178P	probably damaging	Het
Smarca2	A	C	19: 26,659,448 (GRCm39)	I913L	probably benign	Het
Spaca7b	T	A	8: 11,715,056 (GRCm39)	D46V	probably damaging	Het
Tcea3	G	A	4: 136,001,027 (GRCm39)		probably null	Het
Tektl1	G	C	10: 78,584,509 (GRCm39)	Q338E	probably benign	Het
Tmcc1	T	A	6: 116,020,435 (GRCm39)	H339L		Het
Trpm2	G	T	10: 77,783,731 (GRCm39)	H247Q	probably damaging	Het
Tyr	T	A	7: 87,121,724 (GRCm39)	D356V	probably damaging	Het
Vmn2r54	A	T	7: 12,349,888 (GRCm39)	C565S	probably damaging	Het
Vmn2r82	A	C	10: 79,213,636 (GRCm39)	N74T	probably benign	Het
Zcchc4	T	C	5: 52,973,260 (GRCm39)	Y375H	probably damaging	Het
Zfhx3	T	A	8: 109,675,353 (GRCm39)	D2134E	possibly damaging	Het
Zfhx4	T	A	3: 5,464,010 (GRCm39)	Y1414*	probably null	Het
Zfp282	A	T	6: 47,867,626 (GRCm39)	E267D	possibly damaging	Het
Zfp442	A	T	2: 150,251,096 (GRCm39)	C269S	possibly damaging	Het
Zp3	T	A	5: 136,014,418 (GRCm39)	S246T	probably benign	Het

Other mutations in Csad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Csad	APN	15	102,095,598 (GRCm39)	missense	probably damaging	1.00
IGL01769:Csad	APN	15	102,088,516 (GRCm39)	missense	probably benign	0.02
IGL02254:Csad	APN	15	102,094,872 (GRCm39)	nonsense	probably null
dejavu	UTSW	15	102,088,407 (GRCm39)	missense	probably damaging	1.00
dell	UTSW	15	102,087,041 (GRCm39)	missense	probably damaging	1.00
farmer	UTSW	15	102,095,599 (GRCm39)	missense	probably damaging	1.00
lenovo	UTSW	15	102,087,469 (GRCm39)	missense	probably null	1.00
PIT4382001:Csad	UTSW	15	102,097,085 (GRCm39)	missense	probably benign	0.00
R0701:Csad	UTSW	15	102,087,571 (GRCm39)	missense	probably benign	0.42
R1595:Csad	UTSW	15	102,086,217 (GRCm39)	missense	probably damaging	1.00
R1707:Csad	UTSW	15	102,088,407 (GRCm39)	missense	probably damaging	1.00
R2107:Csad	UTSW	15	102,087,469 (GRCm39)	missense	probably null	1.00
R2196:Csad	UTSW	15	102,096,028 (GRCm39)	missense	probably benign	0.00
R2275:Csad	UTSW	15	102,095,557 (GRCm39)	missense	probably damaging	0.98
R2504:Csad	UTSW	15	102,097,102 (GRCm39)	start codon destroyed	probably null	0.97
R2928:Csad	UTSW	15	102,086,139 (GRCm39)	missense	probably damaging	1.00
R3924:Csad	UTSW	15	102,086,991 (GRCm39)	missense	probably benign	0.05
R6235:Csad	UTSW	15	102,087,041 (GRCm39)	missense	probably damaging	1.00
R6418:Csad	UTSW	15	102,087,958 (GRCm39)	missense	probably damaging	0.96
R7612:Csad	UTSW	15	102,097,357 (GRCm39)	unclassified	probably benign
R7742:Csad	UTSW	15	102,095,599 (GRCm39)	missense	probably damaging	1.00
R9520:Csad	UTSW	15	102,097,102 (GRCm39)	start codon destroyed	probably null	0.45

Predicted Primers

PCR Primer
(F):5'- TTGAGAACCCAGGAGACTACG -3'
(R):5'- CCAGCTCCAACTTTCCTAGAGAG -3'

Sequencing Primer
(F):5'- CCAGGAGACTACGCAGAGCTTG -3'
(R):5'- CTCCAACTTTCCTAGAGAGAGGAG -3'

Posted On

2020-06-30