Incidental Mutation 'R4415:Rdh14'
ID |
326805 |
Institutional Source |
Beutler Lab
|
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 # |
R4415 (G1)
|
Quality Score |
92 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
10440772-10445562 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 10441231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000020947]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218287]
[ENSMUST00000220257]
[ENSMUST00000218417]
[ENSMUST00000218551]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000219292]
[ENSMUST00000219049]
[ENSMUST00000219826]
[ENSMUST00000223534]
[ENSMUST00000220611]
|
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 null
Transcript: ENSMUST00000020947
|
SMART Domains |
Protein: ENSMUSP00000020947 Gene: ENSMUSG00000020621
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 |
probably benign
Transcript: ENSMUST00000218287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218288
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
Spata31e5 |
T |
A |
1: 28,816,214 (GRCm39) |
Q606L |
probably benign |
Het |
Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
probably 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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGATCACCGGAGCAAACAG -3'
(R):5'- AGACACTGGCTTATTTATGCACTTC -3'
Sequencing Primer
(F):5'- GCGCGGGTCATCATGGG -3'
(R):5'- CTCCTTAGGACCTCCCAGGAATTC -3'
|
Posted On |
2015-07-07 |