Incidental Mutation 'IGL00928:Rdh14'
ID |
28734 |
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 # |
IGL00928
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
10440772-10445562 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10444803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 218
(S218N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000020947]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000219292]
[ENSMUST00000223534]
[ENSMUST00000218417]
[ENSMUST00000220611]
[ENSMUST00000219049]
[ENSMUST00000218339]
[ENSMUST00000218287]
[ENSMUST00000218551]
[ENSMUST00000220257]
[ENSMUST00000218327]
[ENSMUST00000219826]
|
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: S218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020947 Gene: ENSMUSG00000020621 AA Change: S218N
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: ENSMUST00000219292
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218288
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,217,720 (GRCm39) |
|
probably benign |
Het |
Ablim3 |
T |
C |
18: 61,982,477 (GRCm39) |
E156G |
possibly damaging |
Het |
Adgrb2 |
A |
G |
4: 129,886,096 (GRCm39) |
T79A |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,980,936 (GRCm39) |
V357E |
probably damaging |
Het |
Asph |
T |
C |
4: 9,594,675 (GRCm39) |
I241V |
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,893 (GRCm39) |
Y343C |
probably damaging |
Het |
Brf1 |
A |
G |
12: 112,927,220 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
A |
G |
1: 45,380,018 (GRCm39) |
|
probably benign |
Het |
Cps1 |
A |
C |
1: 67,162,393 (GRCm39) |
T24P |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,923,764 (GRCm39) |
L293P |
possibly damaging |
Het |
Engase |
C |
A |
11: 118,373,796 (GRCm39) |
R313S |
possibly damaging |
Het |
Espn |
A |
G |
4: 152,220,059 (GRCm39) |
S28P |
probably damaging |
Het |
Gnas |
T |
A |
2: 174,139,746 (GRCm39) |
L31* |
probably null |
Het |
Gorasp2 |
A |
G |
2: 70,521,208 (GRCm39) |
T393A |
probably benign |
Het |
Gpc6 |
T |
A |
14: 117,163,370 (GRCm39) |
V8E |
possibly damaging |
Het |
Gtf2a1l |
T |
C |
17: 89,001,890 (GRCm39) |
S202P |
probably benign |
Het |
Gucy1a2 |
T |
C |
9: 3,759,777 (GRCm39) |
F528L |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,238,018 (GRCm39) |
H721R |
probably benign |
Het |
Kcnu1 |
T |
C |
8: 26,339,763 (GRCm39) |
F27S |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,635,578 (GRCm39) |
W366R |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,396,908 (GRCm39) |
V954A |
probably damaging |
Het |
Nudt13 |
T |
C |
14: 20,366,231 (GRCm39) |
I303T |
possibly damaging |
Het |
Or10s1 |
T |
A |
9: 39,986,072 (GRCm39) |
H160Q |
probably damaging |
Het |
Or2h1 |
A |
C |
17: 37,404,224 (GRCm39) |
S181A |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,800,281 (GRCm39) |
V289A |
probably benign |
Het |
Pamr1 |
C |
A |
2: 102,469,686 (GRCm39) |
Q411K |
probably benign |
Het |
Pdcl |
A |
G |
2: 37,247,386 (GRCm39) |
M1T |
probably null |
Het |
Phf20 |
T |
C |
2: 156,146,736 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,365,424 (GRCm39) |
S49G |
probably damaging |
Het |
Ppp2r3c |
A |
G |
12: 55,339,283 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,675,978 (GRCm39) |
R16G |
probably benign |
Het |
Scarb2 |
A |
C |
5: 92,594,203 (GRCm39) |
F453C |
probably damaging |
Het |
Sh2d7 |
A |
G |
9: 54,448,515 (GRCm39) |
T179A |
probably benign |
Het |
Spag6l |
C |
T |
16: 16,584,877 (GRCm39) |
A424T |
possibly damaging |
Het |
Trim71 |
T |
C |
9: 114,354,083 (GRCm39) |
D307G |
probably benign |
Het |
Ufl1 |
A |
T |
4: 25,267,790 (GRCm39) |
L294M |
probably damaging |
Het |
Wdr93 |
C |
A |
7: 79,425,301 (GRCm39) |
P540Q |
probably damaging |
Het |
Wmp |
T |
A |
X: 106,989,449 (GRCm39) |
E488V |
possibly damaging |
Het |
|
Other mutations in Rdh14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Rdh14
|
APN |
12 |
10,441,134 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-04-17 |