Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02428:Sccpdh'

293005

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 #

IGL02428

Quality Score

Status

Chromosome

Chromosomal Location

179495796-179514754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 179508070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 237 (Y237H)

Ref Sequence

ENSEMBL: ENSMUSP00000040956 (fasta)

Gene Model

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

AlphaFold

Q8R127

Predicted Effect

probably benign
Transcript: ENSMUST00000040538
AA Change: Y237H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: Y237H

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

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
1700024G13Rik	T	C	14: 32,110,205 (GRCm39)		probably benign	Het
AB124611	C	T	9: 21,440,221 (GRCm39)	S69L	possibly damaging	Het
Abca6	G	A	11: 110,069,618 (GRCm39)	A1566V	possibly damaging	Het
Ahnak	A	G	19: 8,992,197 (GRCm39)	I4494V	possibly damaging	Het
Ascc3	T	A	10: 50,721,791 (GRCm39)	Y2081*	probably null	Het
Cdc42bpb	T	C	12: 111,289,561 (GRCm39)	T423A	probably benign	Het
Cdh6	T	A	15: 13,064,516 (GRCm39)	I125F	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,368,609 (GRCm39)	L1845P	possibly damaging	Het
Epha4	A	G	1: 77,483,385 (GRCm39)	V208A	possibly damaging	Het
Fanci	A	G	7: 79,094,264 (GRCm39)		probably benign	Het
Fezf2	T	C	14: 12,344,494 (GRCm38)	E231G	probably damaging	Het
Flnc	A	G	6: 29,451,484 (GRCm39)	D1566G	probably damaging	Het
Gm11565	A	G	11: 99,805,811 (GRCm39)	T68A	probably benign	Het
Ifng	G	A	10: 118,281,159 (GRCm39)	R154H	probably damaging	Het
Il1r1	G	A	1: 40,352,392 (GRCm39)	E521K	possibly damaging	Het
Irf3	G	T	7: 44,648,163 (GRCm39)	L9F	probably damaging	Het
Jade1	T	G	3: 41,568,374 (GRCm39)	I814S	probably benign	Het
Kcnh1	G	A	1: 192,019,851 (GRCm39)	W365*	probably null	Het
Kif16b	T	C	2: 142,514,280 (GRCm39)	T1209A	possibly damaging	Het
Mcur1	A	T	13: 43,695,203 (GRCm39)	S324T	probably damaging	Het
Mgat2	C	A	12: 69,231,558 (GRCm39)	A44E	probably benign	Het
Nox1	A	G	X: 133,008,583 (GRCm39)		probably benign	Het
Oga	A	T	19: 45,753,940 (GRCm39)	W645R	probably damaging	Het
Or52ae7	A	T	7: 103,119,590 (GRCm39)	I115F	probably benign	Het
Or5ak23	A	G	2: 85,244,537 (GRCm39)	S229P	probably benign	Het
Pcnt	A	T	10: 76,265,090 (GRCm39)	I340N	probably damaging	Het
Pde11a	T	C	2: 75,877,189 (GRCm39)	E760G	possibly damaging	Het
Per3	C	T	4: 151,102,674 (GRCm39)		probably null	Het
Rabep1	G	A	11: 70,808,306 (GRCm39)	A421T	probably benign	Het
Rint1	C	T	5: 23,999,450 (GRCm39)	Q80*	probably null	Het
Rnaset2b	G	A	17: 7,248,568 (GRCm39)		probably null	Het
Scn10a	T	A	9: 119,520,628 (GRCm39)	T91S	probably damaging	Het
Spock1	A	G	13: 57,592,245 (GRCm39)		probably benign	Het
Stat1	A	G	1: 52,182,125 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,118,203 (GRCm39)	E2212G	probably damaging	Het
Taok1	T	A	11: 77,440,103 (GRCm39)	R635W	probably benign	Het
Vmn1r39	A	G	6: 66,781,946 (GRCm39)	I124T	probably benign	Het
Vmn2r32	T	C	7: 7,477,283 (GRCm39)	I369M	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
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

2015-04-16