Mutagenetix > Incidental Mutation

Incidental Mutation 'R6418:Csad'

518095

Institutional Source

Beutler Lab

Gene Symbol

Csad

Ensembl Gene

ENSMUSG00000023044

Gene Name

cysteine sulfinic acid decarboxylase

Synonyms

MMRRC Submission

044560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6418 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102085432-102112685 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102087958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 322 (S322P)

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: S322P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023805
Gene: ENSMUSG00000023044
AA Change: S322P

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

noncoding transcript
Transcript: ENSMUST00000230253

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230288
AA Change: S322P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230322

Predicted Effect

probably benign
Transcript: ENSMUST00000230342

Predicted Effect

probably benign
Transcript: ENSMUST00000230708

Predicted Effect

probably benign
Transcript: ENSMUST00000231029

Predicted Effect

probably benign
Transcript: ENSMUST00000231048

Meta Mutation Damage Score

0.2807

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

99% (67/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930507D05Rik	C	T	10: 62,285,441 (GRCm39)	A55V	unknown	Het
Adra1b	T	G	11: 43,667,028 (GRCm39)	D403A	probably benign	Het
Ankdd1b	A	T	13: 96,597,405 (GRCm39)	L9Q	probably damaging	Het
Ankrd17	A	T	5: 90,426,204 (GRCm39)	S789R	possibly damaging	Het
B3galnt1	A	G	3: 69,482,326 (GRCm39)	S312P	probably damaging	Het
C4bp	C	T	1: 130,583,750 (GRCm39)	V73M	probably damaging	Het
Ccdc121rt2	T	C	5: 112,598,019 (GRCm39)	S189P	probably benign	Het
Cenpe	T	A	3: 134,957,305 (GRCm39)	N1854K	probably damaging	Het
Chrm2	A	C	6: 36,500,674 (GRCm39)	Y177S	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Depdc1b	T	G	13: 108,493,956 (GRCm39)	Y115D	probably damaging	Het
Dnah17	T	C	11: 118,020,023 (GRCm39)	Y8C	probably damaging	Het
Dsg3	T	C	18: 20,656,817 (GRCm39)		probably null	Het
Elf5	A	G	2: 103,269,697 (GRCm39)	T93A	possibly damaging	Het
Eogt	C	T	6: 97,122,353 (GRCm39)	D27N	possibly damaging	Het
Fam118b	T	C	9: 35,146,633 (GRCm39)	D78G	probably damaging	Het
Fhip2a	T	A	19: 57,370,166 (GRCm39)	M470K	probably benign	Het
Frem3	A	G	8: 81,337,781 (GRCm39)	T25A	probably benign	Het
Gab1	C	A	8: 81,515,226 (GRCm39)	R364L	possibly damaging	Het
Golm1	T	C	13: 59,813,375 (GRCm39)	Y32C	probably damaging	Het
Has1	A	T	17: 18,070,207 (GRCm39)	V238E	probably damaging	Het
Hkdc1	T	C	10: 62,219,583 (GRCm39)	R907G	possibly damaging	Het
Igkv4-61	C	A	6: 69,394,138 (GRCm39)	A31S	possibly damaging	Het
Krtap24-1	C	T	16: 88,408,761 (GRCm39)	V122I	probably damaging	Het
Lrrc10	T	G	10: 116,881,616 (GRCm39)	L97V	probably damaging	Het
Map3k20	T	A	2: 72,232,457 (GRCm39)	M371K	probably benign	Het
Mis18bp1	A	T	12: 65,205,317 (GRCm39)	M2K	possibly damaging	Het
Mob3b	T	A	4: 34,954,049 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,570,607 (GRCm39)	T556A	possibly damaging	Het
Muc6	A	C	7: 141,224,032 (GRCm39)		probably benign	Het
Ncapg	A	T	5: 45,839,158 (GRCm39)	L519F	probably damaging	Het
Nfix	A	G	8: 85,453,778 (GRCm39)	S265P	probably benign	Het
Or13p10	T	A	4: 118,522,808 (GRCm39)	F31L	possibly damaging	Het
Or4c121	T	C	2: 89,023,823 (GRCm39)	K185R	probably damaging	Het
Or4k49	T	C	2: 111,494,817 (GRCm39)	V82A	probably benign	Het
Or52e5	T	C	7: 104,719,514 (GRCm39)	L280P	probably damaging	Het
Or8g35	C	A	9: 39,381,112 (GRCm39)	K303N	probably benign	Het
Osgin2	T	C	4: 16,006,410 (GRCm39)	T95A	probably benign	Het
Parp4	T	C	14: 56,858,108 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,879,046 (GRCm39)	G867D	probably damaging	Het
Pcdhb22	T	C	18: 37,652,959 (GRCm39)	S476P	possibly damaging	Het
Phldb1	A	G	9: 44,623,197 (GRCm39)	I619T	probably damaging	Het
Ppp1r13l	C	T	7: 19,105,256 (GRCm39)	R343C	probably damaging	Het
Rab2b	T	A	14: 52,506,164 (GRCm39)		probably benign	Het
Rims2	A	T	15: 39,373,092 (GRCm39)	E972V	probably damaging	Het
Slc26a9	G	T	1: 131,686,228 (GRCm39)	C337F	probably benign	Het
Spty2d1	A	G	7: 46,647,751 (GRCm39)	S393P	probably damaging	Het
Stkld1	A	T	2: 26,831,093 (GRCm39)	N90I	possibly damaging	Het
Svep1	T	A	4: 58,053,126 (GRCm39)	R3406S	probably benign	Het
Svil	A	T	18: 5,040,171 (GRCm39)	D48V	probably benign	Het
Thsd7a	T	A	6: 12,555,081 (GRCm39)	K268*	probably null	Het
Tmc6	A	G	11: 117,661,326 (GRCm39)	L618P	probably damaging	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Ube2q2l	C	A	6: 136,378,099 (GRCm39)	D244Y	probably damaging	Het
Ubn1	A	G	16: 4,899,791 (GRCm39)	H1101R	probably benign	Het
Upf2	G	A	2: 6,032,150 (GRCm39)	V899I	unknown	Het
Ush2a	A	T	1: 188,360,763 (GRCm39)	N2161I	probably damaging	Het
Usp25	A	T	16: 76,859,330 (GRCm39)	D276V	probably damaging	Het
Vmn2r68	T	A	7: 84,882,915 (GRCm39)	H279L	probably benign	Het
Vps13d	G	A	4: 144,818,850 (GRCm39)	R3019W	probably damaging	Het
Vsig10	A	T	5: 117,486,361 (GRCm39)	E423D	probably benign	Het
Wdfy2	T	A	14: 63,162,582 (GRCm39)	F95I	probably benign	Het
Xrn1	A	G	9: 95,915,763 (GRCm39)		probably null	Het
Zdhhc13	A	G	7: 48,461,149 (GRCm39)	T362A	possibly damaging	Het
Zfp984	C	T	4: 147,845,703 (GRCm39)	S2N	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
R7612:Csad	UTSW	15	102,097,357 (GRCm39)	unclassified	probably benign
R7742:Csad	UTSW	15	102,095,599 (GRCm39)	missense	probably damaging	1.00
R8158:Csad	UTSW	15	102,086,197 (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'- AATTCCCTGGGCACATGGAG -3'
(R):5'- GGTTCTCAGGATAGCCACAAAC -3'

Sequencing Primer
(F):5'- TGGGCACATGGAGCTCAAC -3'
(R):5'- ACACGGACAGATGATTGATTTTGG -3'

Posted On

2018-05-24