Incidental Mutation 'R3003:Adh6b'
ID |
257358 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adh6b
|
Ensembl Gene |
ENSMUSG00000074206 |
Gene Name |
alcohol dehydrogenase 6B (class V) |
Synonyms |
Adh5b |
MMRRC Submission |
040532-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R3003 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
138047536-138064622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 138063532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 248
(L248F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090166]
[ENSMUST00000199673]
|
AlphaFold |
A0A1D5RMB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090166
AA Change: L248F
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000087628 Gene: ENSMUSG00000074206 AA Change: L248F
Domain | Start | End | E-Value | Type |
Pfam:ADH_zinc_N
|
88 |
220 |
7.8e-24 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090166
AA Change: L248F
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199673
AA Change: L370F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
C |
16: 14,254,393 (GRCm39) |
V568A |
probably damaging |
Het |
Acd |
C |
T |
8: 106,426,913 (GRCm39) |
|
probably null |
Het |
Acly |
T |
C |
11: 100,395,053 (GRCm39) |
K469E |
possibly damaging |
Het |
Atg9b |
G |
T |
5: 24,596,217 (GRCm39) |
D192E |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,899,988 (GRCm39) |
D182G |
probably benign |
Het |
Cep112 |
A |
G |
11: 108,331,329 (GRCm39) |
E178G |
probably damaging |
Het |
Clptm1l |
C |
T |
13: 73,765,875 (GRCm39) |
T471I |
possibly damaging |
Het |
Csmd1 |
A |
G |
8: 16,246,184 (GRCm39) |
F1072L |
probably damaging |
Het |
Eprs1 |
T |
C |
1: 185,156,588 (GRCm39) |
|
probably null |
Het |
Il27ra |
G |
T |
8: 84,758,660 (GRCm39) |
S499* |
probably null |
Het |
Klk1b11 |
T |
C |
7: 43,426,419 (GRCm39) |
I51T |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Mprip |
A |
G |
11: 59,618,381 (GRCm39) |
T91A |
possibly damaging |
Het |
Pfpl |
T |
C |
19: 12,407,690 (GRCm39) |
I647T |
possibly damaging |
Het |
Plxnc1 |
A |
T |
10: 94,629,080 (GRCm39) |
F1565I |
probably damaging |
Het |
Prr5 |
G |
T |
15: 84,656,031 (GRCm39) |
C344F |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,738,004 (GRCm39) |
W1262R |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,763,197 (GRCm39) |
R927Q |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,917,014 (GRCm39) |
K213E |
probably damaging |
Het |
Smarcd1 |
C |
A |
15: 99,610,065 (GRCm39) |
P432Q |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,142,145 (GRCm39) |
D664G |
probably damaging |
Het |
Suz12 |
T |
A |
11: 79,910,587 (GRCm39) |
W313R |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,999,916 (GRCm39) |
Y1020C |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem81 |
A |
G |
1: 132,435,752 (GRCm39) |
N186S |
probably benign |
Het |
Tut4 |
G |
A |
4: 108,370,125 (GRCm39) |
E714K |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,286,125 (GRCm39) |
M208V |
probably benign |
Het |
|
Other mutations in Adh6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02802:Adh6b
|
UTSW |
3 |
138,058,545 (GRCm39) |
missense |
possibly damaging |
0.57 |
R0538:Adh6b
|
UTSW |
3 |
138,063,411 (GRCm39) |
missense |
probably benign |
0.03 |
R5123:Adh6b
|
UTSW |
3 |
138,063,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R6101:Adh6b
|
UTSW |
3 |
138,063,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6105:Adh6b
|
UTSW |
3 |
138,063,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7556:Adh6b
|
UTSW |
3 |
138,058,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R7558:Adh6b
|
UTSW |
3 |
138,058,297 (GRCm39) |
missense |
probably benign |
0.01 |
R8725:Adh6b
|
UTSW |
3 |
138,058,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R8727:Adh6b
|
UTSW |
3 |
138,058,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R8829:Adh6b
|
UTSW |
3 |
138,055,463 (GRCm39) |
missense |
probably benign |
0.00 |
R8832:Adh6b
|
UTSW |
3 |
138,055,463 (GRCm39) |
missense |
probably benign |
0.00 |
R8939:Adh6b
|
UTSW |
3 |
138,055,397 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGGAATCTTCAGTCAGATTTG -3'
(R):5'- GACATATTGCAGTTGAGGCTGG -3'
Sequencing Primer
(F):5'- AGTCAGATTTGATATGTTTCACATCC -3'
(R):5'- CTCATCAGGCAGGTTAATTGC -3'
|
Posted On |
2015-01-11 |