Incidental Mutation 'R4414:Rdh14'
ID |
377774 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rdh14
|
Ensembl Gene |
ENSMUSG00000020621 |
Gene Name |
retinol dehydrogenase 14 (all-trans and 9-cis) |
Synonyms |
PAN2, 3110030G19Rik |
MMRRC Submission |
041694-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R4414 (G1)
|
Quality Score |
30 |
Status
|
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]
[ENSMUST00000223534]
[ENSMUST00000219292]
[ENSMUST00000220611]
[ENSMUST00000219049]
[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 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 |
noncoding transcript
Transcript: ENSMUST00000218148
|
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: ENSMUST00000223534
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Src |
A |
G |
2: 157,306,573 (GRCm39) |
D192G |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATCACCGGAGCAAACAGC -3'
(R):5'- CCAGACACTGGCTTATTTATGCAC -3'
Sequencing Primer
(F):5'- GCGCGGGTCATCATGGG -3'
(R):5'- ACTTCTCCTTAGGACCTCCCAGG -3'
|
Posted On |
2016-04-05 |