Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.467) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

179668210-179687189 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179678069 bp

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]

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: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Sccpdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Sccpdh	APN	1	179679699	missense	probably benign
IGL02428:Sccpdh	APN	1	179680505	missense	probably benign	0.01
IGL02516:Sccpdh	APN	1	179681691	missense	probably damaging	1.00
IGL02622:Sccpdh	APN	1	179676460	missense	probably damaging	1.00
IGL02708:Sccpdh	APN	1	179680509	missense	probably benign	0.32
IGL03209:Sccpdh	APN	1	179686673	missense	possibly damaging	0.89
R0508:Sccpdh	UTSW	1	179680515	unclassified	probably null
R1160:Sccpdh	UTSW	1	179684210	missense	probably benign	0.01
R1462:Sccpdh	UTSW	1	179681560	splice site	probably benign
R1965:Sccpdh	UTSW	1	179684314	missense	probably damaging	1.00
R2104:Sccpdh	UTSW	1	179670597	missense	probably benign
R2200:Sccpdh	UTSW	1	179670606	missense	possibly damaging	0.95
R4693:Sccpdh	UTSW	1	179668410	missense	possibly damaging	0.95
R5954:Sccpdh	UTSW	1	179680588	missense	probably benign	0.08
R6248:Sccpdh	UTSW	1	179668392	missense	probably benign	0.00
R6355:Sccpdh	UTSW	1	179670600	missense	probably benign	0.01
R6447:Sccpdh	UTSW	1	179678888	makesense	probably null
R6692:Sccpdh	UTSW	1	179684227	missense	possibly damaging	0.94

Posted On

2014-05-07