Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03209:Sccpdh'

413231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sccpdh

Ensembl Gene

ENSMUSG00000038936

Gene Name

saccharopine dehydrogenase (putative)

Synonyms

C330023F11Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

IGL03209

Quality Score

Status

Chromosome

Chromosomal Location

179495796-179514754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179514238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 429 (V429A)

Ref Sequence

ENSEMBL: ENSMUSP00000040956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040538] [ENSMUST00000134287] [ENSMUST00000143936]

AlphaFold

Q8R127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040538
AA Change: V429A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: V429A

Domain	Start	End	E-Value	Type
Pfam:Sacchrp_dh_NADP	10	149	2.4e-28	PFAM
transmembrane domain	277	299	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134287

SMART Domains

Protein: ENSMUSP00000136880
Gene: ENSMUSG00000038936

Domain	Start	End	E-Value	Type
Pfam:Saccharop_dh	10	130	9.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143936

SMART Domains

Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936

Domain	Start	End	E-Value	Type
transmembrane domain	28	50	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000144480
AA Change: V169A

SMART Domains

Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: V169A

Domain	Start	End	E-Value	Type
Pfam:Sacchrp_dh_C	56	160	8.7e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192611

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	C	T	2: 26,882,973 (GRCm39)	A841V	probably benign	Het
Alms1	A	G	6: 85,576,955 (GRCm39)		probably benign	Het
Arc	A	T	15: 74,543,833 (GRCm39)	L130Q	probably damaging	Het
Arhgap28	C	T	17: 68,175,951 (GRCm39)	V383I	probably damaging	Het
Atf6	T	C	1: 170,662,463 (GRCm39)	S266G	probably benign	Het
Cd59b	A	G	2: 103,914,905 (GRCm39)	E101G	probably benign	Het
Cdc26	T	C	4: 62,313,251 (GRCm39)	K30R	possibly damaging	Het
Clns1a	A	G	7: 97,360,937 (GRCm39)	D103G	probably null	Het
Crispld2	C	A	8: 120,757,837 (GRCm39)	A394E	possibly damaging	Het
Cyp51	A	T	5: 4,154,195 (GRCm39)	L38H	probably damaging	Het
Dnah7a	T	G	1: 53,725,773 (GRCm39)		probably benign	Het
Fbxw2	T	C	2: 34,712,675 (GRCm39)	R129G	probably damaging	Het
Fgd3	T	C	13: 49,439,294 (GRCm39)	Q234R	probably damaging	Het
Gdpgp1	A	G	7: 79,888,847 (GRCm39)	T293A	probably damaging	Het
Hspa12a	T	G	19: 58,810,493 (GRCm39)		probably null	Het
Ier5l	G	T	2: 30,363,067 (GRCm39)	D319E	possibly damaging	Het
Iigp1c	T	A	18: 60,379,143 (GRCm39)	I226N	probably damaging	Het
Ikzf1	T	C	11: 11,650,226 (GRCm39)	V3A	probably benign	Het
Itga2	T	C	13: 115,017,168 (GRCm39)	N180D	probably damaging	Het
Lipt1	T	C	1: 37,914,150 (GRCm39)	S69P	probably damaging	Het
Lvrn	A	G	18: 47,022,565 (GRCm39)	I734V	probably benign	Het
Man2c1	A	G	9: 57,049,114 (GRCm39)	T871A	probably benign	Het
Ndufs1	A	T	1: 63,203,896 (GRCm39)	C129S	probably damaging	Het
Neb	A	T	2: 52,180,831 (GRCm39)	F1232I	probably damaging	Het
Ngly1	T	A	14: 16,281,831 (GRCm38)	Y362*	probably null	Het
Or2h2c	A	T	17: 37,422,413 (GRCm39)	S154T	probably benign	Het
Or5ak23	A	T	2: 85,244,723 (GRCm39)	S167T	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Plxnd1	A	T	6: 115,939,318 (GRCm39)	M1502K	probably damaging	Het
Slc25a48	T	C	13: 56,618,272 (GRCm39)	V303A	probably benign	Het
Sult2a6	T	C	7: 13,959,897 (GRCm39)	D212G	probably benign	Het
Tep1	A	T	14: 51,078,160 (GRCm39)		probably benign	Het
Tmem65	A	G	15: 58,656,751 (GRCm39)		probably benign	Het
Togaram2	T	C	17: 72,002,740 (GRCm39)		probably null	Het
Trim36	T	C	18: 46,300,575 (GRCm39)	T687A	probably benign	Het
Unc13b	T	A	4: 43,239,351 (GRCm39)	D3471E	probably damaging	Het
Urgcp	T	C	11: 5,667,238 (GRCm39)		probably null	Het
Zfhx4	A	T	3: 5,466,231 (GRCm39)	I2155F	probably damaging	Het
Zfp831	T	A	2: 174,487,059 (GRCm39)	V578E	probably benign	Het

Other mutations in Sccpdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Sccpdh	APN	1	179,505,634 (GRCm39)	missense	possibly damaging	0.90
IGL02225:Sccpdh	APN	1	179,507,264 (GRCm39)	missense	probably benign
IGL02428:Sccpdh	APN	1	179,508,070 (GRCm39)	missense	probably benign	0.01
IGL02516:Sccpdh	APN	1	179,509,256 (GRCm39)	missense	probably damaging	1.00
IGL02622:Sccpdh	APN	1	179,504,025 (GRCm39)	missense	probably damaging	1.00
IGL02708:Sccpdh	APN	1	179,508,074 (GRCm39)	missense	probably benign	0.32
R0508:Sccpdh	UTSW	1	179,508,080 (GRCm39)	splice site	probably null
R1160:Sccpdh	UTSW	1	179,511,775 (GRCm39)	missense	probably benign	0.01
R1462:Sccpdh	UTSW	1	179,509,125 (GRCm39)	splice site	probably benign
R1965:Sccpdh	UTSW	1	179,511,879 (GRCm39)	missense	probably damaging	1.00
R2104:Sccpdh	UTSW	1	179,498,162 (GRCm39)	missense	probably benign
R2200:Sccpdh	UTSW	1	179,498,171 (GRCm39)	missense	possibly damaging	0.95
R4693:Sccpdh	UTSW	1	179,495,975 (GRCm39)	missense	possibly damaging	0.95
R5954:Sccpdh	UTSW	1	179,508,153 (GRCm39)	missense	probably benign	0.08
R6248:Sccpdh	UTSW	1	179,495,957 (GRCm39)	missense	probably benign	0.00
R6355:Sccpdh	UTSW	1	179,498,165 (GRCm39)	missense	probably benign	0.01
R6447:Sccpdh	UTSW	1	179,506,453 (GRCm39)	makesense	probably null
R6692:Sccpdh	UTSW	1	179,511,792 (GRCm39)	missense	possibly damaging	0.94
R8117:Sccpdh	UTSW	1	179,504,017 (GRCm39)	missense	probably damaging	1.00
R8551:Sccpdh	UTSW	1	179,509,013 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02