Incidental Mutation 'R3613:Rdh16f2'
| ID |
269288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rdh16f2
|
| Ensembl Gene |
ENSMUSG00000074639 |
| Gene Name |
RDH16 family member 2 |
| Synonyms |
BC089597 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3613 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127702345-127713188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127710808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 142
(I142F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092058]
|
| AlphaFold |
Q8K3M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092058
AA Change: I142F
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: I142F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,864,863 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
| Ctsh |
A |
C |
9: 89,957,763 (GRCm39) |
M281L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Hinfp |
T |
C |
9: 44,209,041 (GRCm39) |
H359R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,426,298 (GRCm39) |
|
probably null |
Het |
| Lsamp |
T |
C |
16: 41,775,686 (GRCm39) |
V179A |
probably benign |
Het |
| Nr1i3 |
T |
A |
1: 171,042,564 (GRCm39) |
C63* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,937 (GRCm39) |
T131S |
probably benign |
Het |
| Pdk2 |
T |
C |
11: 94,918,072 (GRCm39) |
E387G |
probably benign |
Het |
| Pelp1 |
T |
C |
11: 70,286,261 (GRCm39) |
N572S |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,105,441 (GRCm39) |
H1515L |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,480,520 (GRCm39) |
T729I |
probably benign |
Het |
| Tgfbi |
G |
A |
13: 56,773,539 (GRCm39) |
R179Q |
probably damaging |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,787 (GRCm39) |
N72K |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,662,766 (GRCm39) |
T1573M |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
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 |
|
R2245:Rdh16f2
|
UTSW |
10 |
127,712,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Rdh16f2
|
UTSW |
10 |
127,710,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGTCACAGTGTGCTTACCTTG -3'
(R):5'- TGCAGAATTGAAGTGTCCTCCC -3'
Sequencing Primer
(F):5'- CACAGTGTGCTTACCTTGTTGAATG -3'
(R):5'- AATTGAAGTGTCCTCCCTATGATGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation