Mutagenetix > Incidental Mutation

Incidental Mutation 'R1160:Sccpdh'

100279

Institutional Source

Beutler Lab

Gene Symbol

Sccpdh

Ensembl Gene

ENSMUSG00000038936

Gene Name

saccharopine dehydrogenase (putative)

Synonyms

C330023F11Rik

MMRRC Submission

039233-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179495796-179514754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 179511775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 82 (D82E)

Ref Sequence

ENSEMBL: ENSMUSP00000115769 (fasta)

Gene Model

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

AlphaFold

Q8R127

Predicted Effect

probably benign
Transcript: ENSMUST00000040538
AA Change: D332E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040956
Gene: ENSMUSG00000038936
AA Change: D332E

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
AA Change: D82E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000115769
Gene: ENSMUSG00000038936
AA Change: D82E

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

Predicted Effect

unknown
Transcript: ENSMUST00000144480
AA Change: D72E

SMART Domains

Protein: ENSMUSP00000121285
Gene: ENSMUSG00000038936
AA Change: D72E

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

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	G	T	1: 89,770,876 (GRCm39)	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,115,917 (GRCm39)		probably null	Het
Arl5b	T	C	2: 15,074,648 (GRCm39)	V43A	probably benign	Het
Astn1	T	C	1: 158,427,935 (GRCm39)	V702A	possibly damaging	Het
Bach1	T	C	16: 87,512,322 (GRCm39)	V15A	probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,377,218 (GRCm39)	V774M	probably benign	Het
Dcaf5	T	C	12: 80,386,989 (GRCm39)	D379G	possibly damaging	Het
Dcpp1	T	A	17: 24,100,405 (GRCm39)	I45K	possibly damaging	Het
Ddx17	T	A	15: 79,425,288 (GRCm39)	S128C	probably damaging	Het
Eml3	A	G	19: 8,910,614 (GRCm39)	N192S	probably benign	Het
Epha3	T	G	16: 63,593,431 (GRCm39)	D219A	probably damaging	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Khdc4	C	A	3: 88,616,169 (GRCm39)	P452Q	probably damaging	Het
Klhl5	A	G	5: 65,298,683 (GRCm39)	N154S	probably benign	Het
Lrif1	A	G	3: 106,640,033 (GRCm39)	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,271,864 (GRCm39)	N664S	probably benign	Het
Or52z15	A	G	7: 103,332,068 (GRCm39)	N38D	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,636,138 (GRCm39)		probably null	Het
Pole	A	G	5: 110,443,119 (GRCm39)	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,274,868 (GRCm39)	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,855,547 (GRCm39)	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,088,505 (GRCm39)	F237S	probably damaging	Het
Slc19a3	A	C	1: 83,000,413 (GRCm39)	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,013,995 (GRCm39)	A401T	possibly damaging	Het
Snupn	T	G	9: 56,864,389 (GRCm39)	C29W	probably benign	Het
Sorbs2	A	G	8: 46,223,613 (GRCm39)	Y222C	probably damaging	Het
Sox17	A	T	1: 4,562,075 (GRCm39)	V310E	probably damaging	Het
Srgap1	T	A	10: 121,691,382 (GRCm39)	Y284F	probably benign	Het
Srpk1	C	A	17: 28,818,748 (GRCm39)	V363F	probably benign	Het
Syt13	T	A	2: 92,773,387 (GRCm39)		probably null	Het
Taf2	A	G	15: 54,934,793 (GRCm39)	V45A	probably benign	Het
Tal1	A	T	4: 114,925,813 (GRCm39)	D294V	probably damaging	Het
Tbl2	A	G	5: 135,188,246 (GRCm39)	T347A	probably benign	Het
Tet3	A	G	6: 83,381,434 (GRCm39)	S110P	probably benign	Het
Tmem132a	A	G	19: 10,835,938 (GRCm39)	V864A	probably damaging	Het
Trak1	T	C	9: 121,221,073 (GRCm39)	I80T	probably benign	Het
Trappc6b	G	A	12: 59,097,064 (GRCm39)	T86I	probably damaging	Het
Usf3	T	A	16: 44,038,910 (GRCm39)	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,340,231 (GRCm39)	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,189,828 (GRCm39)	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,936 (GRCm39)	V685E	probably damaging	Het
Zp2	A	T	7: 119,735,268 (GRCm39)	D368E	probably damaging	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
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

Predicted Primers

Posted On

2014-01-15