Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02026:Sccpdh'

184148

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: 0.506) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

179495796-179514754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179505634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 138 (H138L)

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: H138L

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: H138L

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

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

probably benign
Transcript: ENSMUST00000144480

SMART Domains

Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,809,251 (GRCm39)	V237E	possibly damaging	Het
Amh	T	C	10: 80,641,242 (GRCm39)	L54P	probably damaging	Het
Aoc3	T	C	11: 101,228,421 (GRCm39)	S743P	probably benign	Het
Arhgap23	T	A	11: 97,342,407 (GRCm39)	W19R	probably damaging	Het
Atm	C	T	9: 53,353,717 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,095,853 (GRCm39)	E281G	probably damaging	Het
Col7a1	A	C	9: 108,797,097 (GRCm39)	K1650N	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Evi2b	T	C	11: 79,406,613 (GRCm39)	S321G	probably damaging	Het
Fancm	T	G	12: 65,152,508 (GRCm39)	V988G	probably benign	Het
Gbp2	A	G	3: 142,339,241 (GRCm39)	Y431C	probably damaging	Het
Gclc	T	C	9: 77,699,342 (GRCm39)	V530A	probably benign	Het
Gm5885	T	C	6: 133,508,291 (GRCm39)		noncoding transcript	Het
Hlcs	A	T	16: 93,935,564 (GRCm39)	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,444,587 (GRCm39)	F240L	probably damaging	Het
Itgb6	C	A	2: 60,458,410 (GRCm39)	V448F	possibly damaging	Het
Lama1	A	G	17: 68,116,287 (GRCm39)	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,020,482 (GRCm39)		probably benign	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Lrrtm3	T	C	10: 63,924,231 (GRCm39)	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,026,842 (GRCm39)	R468*	probably null	Het
Man1a	T	C	10: 53,890,569 (GRCm39)	E373G	probably damaging	Het
Myo1h	A	T	5: 114,461,505 (GRCm39)	Q250L	probably null	Het
Myo9a	T	C	9: 59,813,245 (GRCm39)	V2077A	probably damaging	Het
Or14j3	A	G	17: 37,900,298 (GRCm39)		probably benign	Het
Otud5	C	T	X: 7,738,232 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,260,772 (GRCm39)	S332G	probably benign	Het
Pde8b	A	G	13: 95,170,869 (GRCm39)	V549A	probably damaging	Het
Pgap1	A	T	1: 54,533,978 (GRCm39)	M645K	probably benign	Het
Pm20d1	A	T	1: 131,729,497 (GRCm39)	R175*	probably null	Het
Polr2b	A	G	5: 77,480,099 (GRCm39)	N585S	probably benign	Het
Recql	T	A	6: 142,312,394 (GRCm39)	K41*	probably null	Het
Sec31a	A	T	5: 100,517,485 (GRCm39)	S951T	probably benign	Het
Slc44a4	A	T	17: 35,140,832 (GRCm39)		probably benign	Het
Tchhl1	G	T	3: 93,377,862 (GRCm39)	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,203,658 (GRCm39)		probably benign	Het
Tesl2	T	G	X: 23,824,233 (GRCm39)	H314P	probably damaging	Het
Trbv12-1	A	G	6: 41,090,928 (GRCm39)	D100G	probably damaging	Het
Ttll13	T	A	7: 79,910,127 (GRCm39)	S757T	probably benign	Het
Vipas39	T	A	12: 87,298,483 (GRCm39)		probably benign	Het
Vmn1r64	G	A	7: 5,886,649 (GRCm39)	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 11,994,432 (GRCm39)	S59P	probably damaging	Het
Vsx1	A	T	2: 150,530,447 (GRCm39)	V145D	probably benign	Het
Wdfy4	T	A	14: 32,815,257 (GRCm39)	N1586I	probably damaging	Het
Zan	T	A	5: 137,403,726 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zzef1	T	A	11: 72,772,164 (GRCm39)	M1707K	probably benign	Het

Other mutations in Sccpdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07