Mutagenetix > Incidental Mutation

Incidental Mutation 'R6355:Sccpdh'

512320

Institutional Source

Beutler Lab

Gene Symbol

Sccpdh

Ensembl Gene

ENSMUSG00000038936

Gene Name

saccharopine dehydrogenase (putative)

Synonyms

C330023F11Rik

MMRRC Submission

044507-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R6355 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179495796-179514754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179498165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 70 (S70P)

Ref Sequence

ENSEMBL: ENSMUSP00000136880 (fasta)

Gene Model

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

AlphaFold

Q8R127

Predicted Effect

probably benign
Transcript: ENSMUST00000040538
AA Change: S70P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: S70P

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

noncoding transcript
Transcript: ENSMUST00000131039

Predicted Effect

probably benign
Transcript: ENSMUST00000134287
AA Change: S70P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136880
Gene: ENSMUSG00000038936
AA Change: S70P

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

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.8%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	G	13: 30,565,482 (GRCm39)	F182L	probably benign	Het
Ahnak	A	G	19: 8,986,126 (GRCm39)	E2470G	probably benign	Het
Arhgap20	T	C	9: 51,755,020 (GRCm39)	W418R	probably damaging	Het
Arhgap29	A	G	3: 121,804,907 (GRCm39)	D832G	possibly damaging	Het
Btbd2	A	G	10: 80,481,183 (GRCm39)	F325L	possibly damaging	Het
Chrna10	A	T	7: 101,762,292 (GRCm39)		probably null	Het
Cyp26a1	T	C	19: 37,687,377 (GRCm39)	I188T	possibly damaging	Het
Dnajc13	A	G	9: 104,080,469 (GRCm39)	C871R	probably damaging	Het
Efcab3	T	C	11: 104,896,511 (GRCm39)	S4287P	probably benign	Het
Gm5519	A	T	19: 33,802,471 (GRCm39)	*171C	probably null	Het
Gnat1	C	A	9: 107,554,623 (GRCm39)	V81F	probably benign	Het
Gorab	G	A	1: 163,214,138 (GRCm39)	A264V	probably damaging	Het
Ift172	A	T	5: 31,441,501 (GRCm39)	V211E	probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Kif26b	A	C	1: 178,743,743 (GRCm39)	S1280R	probably damaging	Het
Lce3e	C	T	3: 92,875,042 (GRCm39)		probably benign	Het
Magi1	A	G	6: 94,260,177 (GRCm39)	Y43H	probably benign	Het
Mon2	T	A	10: 122,858,825 (GRCm39)	M829L	possibly damaging	Het
Nmd3	G	A	3: 69,636,680 (GRCm39)	V96I	probably benign	Het
Ogfod1	T	C	8: 94,789,610 (GRCm39)	M437T	probably benign	Het
Or4f54	A	G	2: 111,123,230 (GRCm39)	I206V	probably benign	Het
Or5m9b	T	A	2: 85,905,216 (GRCm39)	I44K	probably benign	Het
Or6b2	T	C	1: 92,407,702 (GRCm39)	T214A	probably benign	Het
Pabpc2	A	G	18: 39,907,445 (GRCm39)	S237G	probably damaging	Het
Parp4	T	A	14: 56,839,757 (GRCm39)	D488E	possibly damaging	Het
Phldb2	C	T	16: 45,645,701 (GRCm39)	M293I	probably damaging	Het
Poc1b	G	A	10: 98,965,436 (GRCm39)	E80K	probably damaging	Het
Prdm5	C	A	6: 65,860,578 (GRCm39)	Q421K	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm39)	E479G	possibly damaging	Het
Ralgapa1	A	G	12: 55,745,639 (GRCm39)	S1239P	probably damaging	Het
Robo3	A	G	9: 37,330,235 (GRCm39)	V1052A	possibly damaging	Het
Satb2	G	T	1: 56,987,356 (GRCm39)	D83E	probably damaging	Het
Scn3a	A	G	2: 65,291,643 (GRCm39)	F1701S	probably damaging	Het
Srsf9	A	G	5: 115,465,368 (GRCm39)	M1V	probably null	Het
Stk32a	T	A	18: 43,430,659 (GRCm39)		probably null	Het
Sult2a5	A	C	7: 13,396,462 (GRCm39)	Y183S	probably benign	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Tnip2	G	A	5: 34,656,541 (GRCm39)	Q255*	probably null	Het
Vmn1r26	A	G	6: 57,985,536 (GRCm39)	W218R	probably benign	Het
Vmn2r61	A	G	7: 41,916,659 (GRCm39)	Y424C	probably benign	Het
Vmn2r86	T	A	10: 130,291,763 (GRCm39)	M1L	probably damaging	Het
Wnt3a	A	T	11: 59,166,058 (GRCm39)	I74N	probably damaging	Het
Zfyve1	A	T	12: 83,641,415 (GRCm39)	H80Q	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
IGL03209:Sccpdh	APN	1	179,514,238 (GRCm39)	missense	possibly damaging	0.89
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGTCAGAACAGGCATCTACTC -3'
(R):5'- AGGGAAGGCCTTCAATCTGC -3'

Sequencing Primer
(F):5'- GGCATCTACTCAGCATATTAACAG -3'
(R):5'- GGCCTTCAATCTGCCATCTG -3'

Posted On

2018-04-27