Incidental Mutation 'R2245:Rdh16f2'
| ID |
240632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh16f2
|
| Ensembl Gene |
ENSMUSG00000074639 |
| Gene Name |
RDH16 family member 2 |
| Synonyms |
BC089597 |
| MMRRC Submission |
040245-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2245 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127702345-127713188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127712145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 201
(K201E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092058]
|
| AlphaFold |
Q8K3M1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092058
AA Change: K201E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: K201E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
30 |
221 |
4.8e-44 |
PFAM |
|
Pfam:KR
|
31 |
206 |
4e-7 |
PFAM |
|
Pfam:DUF1776
|
43 |
304 |
6.8e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
A |
G |
7: 82,099,308 (GRCm39) |
Q154R |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,438,234 (GRCm39) |
L1520P |
probably benign |
Het |
| Brd1 |
A |
G |
15: 88,574,063 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
A |
G |
5: 92,757,811 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,754,766 (GRCm39) |
V1950F |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,229 (GRCm39) |
I237T |
probably damaging |
Het |
| Ddah2 |
T |
C |
17: 35,280,561 (GRCm39) |
L234P |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
C |
9: 101,873,973 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myadml2 |
A |
T |
11: 120,538,656 (GRCm39) |
F60I |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,399,925 (GRCm39) |
V2893A |
probably damaging |
Het |
| Ntn1 |
A |
G |
11: 68,276,120 (GRCm39) |
V276A |
probably benign |
Het |
| Or11h6 |
T |
A |
14: 50,880,062 (GRCm39) |
I102N |
probably damaging |
Het |
| Or4c111 |
A |
T |
2: 88,843,493 (GRCm39) |
I305K |
probably benign |
Het |
| Or7a39 |
A |
G |
10: 78,715,765 (GRCm39) |
Y253C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,527,551 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,315,080 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,009 (GRCm39) |
S1676P |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,203,047 (GRCm39) |
|
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,576,345 (GRCm39) |
D305G |
probably benign |
Het |
| Slc19a3 |
T |
C |
1: 82,991,691 (GRCm39) |
Y439C |
possibly damaging |
Het |
| Son |
G |
T |
16: 91,444,848 (GRCm39) |
|
probably null |
Het |
| Specc1 |
T |
C |
11: 62,022,713 (GRCm39) |
L710P |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,061,524 (GRCm39) |
D592G |
possibly damaging |
Het |
| Tmem237 |
A |
T |
1: 59,147,863 (GRCm39) |
D209E |
probably damaging |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,423 (GRCm39) |
T659A |
probably benign |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,388 (GRCm39) |
I734N |
probably damaging |
Het |
| Wdr7 |
A |
T |
18: 64,057,980 (GRCm39) |
I1270F |
possibly damaging |
Het |
|
| Other mutations in Rdh16f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Rdh16f2
|
APN |
10 |
127,702,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00780:Rdh16f2
|
APN |
10 |
127,710,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1448:Rdh16f2
|
UTSW |
10 |
127,712,794 (GRCm39) |
missense |
probably benign |
|
|
R1757:Rdh16f2
|
UTSW |
10 |
127,712,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2484:Rdh16f2
|
UTSW |
10 |
127,710,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3613:Rdh16f2
|
UTSW |
10 |
127,710,808 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4828:Rdh16f2
|
UTSW |
10 |
127,710,823 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5109:Rdh16f2
|
UTSW |
10 |
127,702,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5153:Rdh16f2
|
UTSW |
10 |
127,712,124 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5420:Rdh16f2
|
UTSW |
10 |
127,712,943 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5448:Rdh16f2
|
UTSW |
10 |
127,712,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5492:Rdh16f2
|
UTSW |
10 |
127,702,623 (GRCm39) |
nonsense |
probably null |
|
|
R5769:Rdh16f2
|
UTSW |
10 |
127,712,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5863:Rdh16f2
|
UTSW |
10 |
127,712,256 (GRCm39) |
missense |
probably benign |
|
|
R6003:Rdh16f2
|
UTSW |
10 |
127,712,201 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6063:Rdh16f2
|
UTSW |
10 |
127,712,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7365:Rdh16f2
|
UTSW |
10 |
127,712,893 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7446:Rdh16f2
|
UTSW |
10 |
127,712,767 (GRCm39) |
missense |
probably benign |
|
|
R8305:Rdh16f2
|
UTSW |
10 |
127,712,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Rdh16f2
|
UTSW |
10 |
127,712,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9357:Rdh16f2
|
UTSW |
10 |
127,712,915 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
X0023:Rdh16f2
|
UTSW |
10 |
127,702,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGCCATAGACCAGAATGTC -3'
(R):5'- ATTGTATGTAGCTTCGGCCCTC -3'
Sequencing Primer
(F):5'- AGACCAGAATGTCTAGTTTTAGGGC -3'
(R):5'- CCTCAGAGGTCACTTACAGGATG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation