Incidental Mutation 'IGL00264:Rdh14'
| ID |
4440 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rdh14
|
| Ensembl Gene |
ENSMUSG00000020621 |
| Gene Name |
retinol dehydrogenase 14 (all-trans and 9-cis) |
| Synonyms |
PAN2, 3110030G19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
10440772-10445562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10441134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 99
(G99W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000020947]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000220257]
[ENSMUST00000219826]
[ENSMUST00000218551]
[ENSMUST00000223534]
[ENSMUST00000219292]
[ENSMUST00000218287]
[ENSMUST00000219049]
[ENSMUST00000220611]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000218417]
|
| AlphaFold |
Q9ERI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002456
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
233 |
N/A |
INTRINSIC |
|
Pfam:5-nucleotidase
|
298 |
570 |
1.6e-106 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020947
AA Change: G99W
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020947
Gene: ENSMUSG00000020621
AA Change: G99W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:KR
|
45 |
199 |
3.4e-10 |
PFAM |
|
Pfam:adh_short
|
45 |
258 |
5.4e-34 |
PFAM |
|
Pfam:Epimerase
|
47 |
248 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118657
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
231 |
N/A |
INTRINSIC |
|
Pfam:5-nucleotidase
|
280 |
553 |
7e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147323
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
233 |
N/A |
INTRINSIC |
|
Pfam:5-nucleotidase
|
298 |
466 |
4.8e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218288
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Rdh14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Rdh14
|
APN |
12 |
10,444,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Rdh14
|
APN |
12 |
10,444,712 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
H8562:Rdh14
|
UTSW |
12 |
10,444,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Rdh14
|
UTSW |
12 |
10,444,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Rdh14
|
UTSW |
12 |
10,441,162 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3980:Rdh14
|
UTSW |
12 |
10,444,703 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4289:Rdh14
|
UTSW |
12 |
10,444,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4414:Rdh14
|
UTSW |
12 |
10,441,231 (GRCm39) |
splice site |
probably null |
|
|
R4415:Rdh14
|
UTSW |
12 |
10,441,231 (GRCm39) |
splice site |
probably null |
|
|
R4417:Rdh14
|
UTSW |
12 |
10,441,231 (GRCm39) |
splice site |
probably null |
|
|
R4594:Rdh14
|
UTSW |
12 |
10,444,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Rdh14
|
UTSW |
12 |
10,444,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6618:Rdh14
|
UTSW |
12 |
10,445,123 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8088:Rdh14
|
UTSW |
12 |
10,444,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Rdh14
|
UTSW |
12 |
10,444,580 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9651:Rdh14
|
UTSW |
12 |
10,441,118 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation