Incidental Mutation 'R6447:Sccpdh'
ID |
519217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sccpdh
|
Ensembl Gene |
ENSMUSG00000038936 |
Gene Name |
saccharopine dehydrogenase (putative) |
Synonyms |
C330023F11Rik |
MMRRC Submission |
044389-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.506)
|
Stock # |
R6447 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
179495796-179514754 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 179506453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 131
(*131W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040538]
[ENSMUST00000134287]
[ENSMUST00000143936]
|
AlphaFold |
Q8R127 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040538
AA Change: T175A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000040956 Gene: ENSMUSG00000038936 AA Change: T175A
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 null
Transcript: ENSMUST00000134287
AA Change: *131W
|
SMART Domains |
Protein: ENSMUSP00000136880 Gene: ENSMUSG00000038936 AA Change: *131W
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
A |
G |
3: 59,772,819 (GRCm39) |
I108V |
probably damaging |
Het |
Axl |
C |
A |
7: 25,469,708 (GRCm39) |
R476I |
probably damaging |
Het |
Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
Samd8 |
T |
C |
14: 21,842,624 (GRCm39) |
|
probably null |
Het |
Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmprss11f |
T |
C |
5: 86,676,086 (GRCm39) |
Y365C |
probably damaging |
Het |
Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
Zswim2 |
T |
C |
2: 83,745,457 (GRCm39) |
|
probably null |
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 |
R6355:Sccpdh
|
UTSW |
1 |
179,498,165 (GRCm39) |
missense |
probably benign |
0.01 |
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'- AGAGTTCACCTGGCCTTCAC -3'
(R):5'- CACATGAATGTCTTAGAAGTTGACC -3'
Sequencing Primer
(F):5'- CTGTGTCTTGCTCTGTGGATAAAAAC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
Posted On |
2018-05-24 |