Incidental Mutation 'R4417:Rdh14'
| ID |
326898 |
| 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 |
041138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4417 (G1)
|
| Quality Score |
153 |
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
A |
1: 85,654,184 (GRCm39) |
Y51F |
probably damaging |
Het |
| Abi3bp |
C |
A |
16: 56,474,398 (GRCm39) |
T631K |
probably damaging |
Het |
| BC004004 |
G |
A |
17: 29,501,249 (GRCm39) |
|
probably benign |
Het |
| Cabp1 |
G |
A |
5: 115,324,096 (GRCm39) |
S7L |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
C |
11: 29,521,826 (GRCm39) |
I453T |
possibly damaging |
Het |
| Col28a1 |
T |
A |
6: 8,175,666 (GRCm39) |
I61F |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,896,466 (GRCm39) |
E61G |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,949,215 (GRCm39) |
V807I |
probably damaging |
Het |
| Crhbp |
T |
C |
13: 95,580,385 (GRCm39) |
S65G |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,872,040 (GRCm39) |
Q2730L |
possibly damaging |
Het |
| Epx |
T |
A |
11: 87,760,256 (GRCm39) |
R453* |
probably null |
Het |
| Fez1 |
T |
C |
9: 36,781,768 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Glp2r |
T |
C |
11: 67,555,342 (GRCm39) |
|
probably benign |
Het |
| Gpm6a |
T |
A |
8: 55,503,223 (GRCm39) |
N157K |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,015 (GRCm39) |
S136P |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lcp2 |
G |
T |
11: 34,000,917 (GRCm39) |
E33D |
probably benign |
Het |
| Lrrc32 |
G |
T |
7: 98,148,144 (GRCm39) |
R308L |
probably benign |
Het |
| Matr3 |
C |
A |
18: 35,705,171 (GRCm39) |
A32D |
probably damaging |
Het |
| Mfsd12 |
A |
G |
10: 81,200,537 (GRCm39) |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,038,586 (GRCm39) |
D1243G |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,805,333 (GRCm39) |
|
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,331 (GRCm39) |
E105G |
probably benign |
Het |
| Pasd1 |
G |
A |
X: 70,983,225 (GRCm39) |
C399Y |
possibly damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,261,632 (GRCm39) |
R977S |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,678,756 (GRCm39) |
E578G |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,400,116 (GRCm39) |
I183T |
probably damaging |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,602,908 (GRCm39) |
C968R |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,951,172 (GRCm39) |
|
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Stradb |
T |
C |
1: 59,033,531 (GRCm39) |
V398A |
probably benign |
Het |
| Tlr4 |
A |
T |
4: 66,757,540 (GRCm39) |
N111I |
probably damaging |
Het |
| Tnip2 |
G |
A |
5: 34,660,925 (GRCm39) |
R176* |
probably null |
Het |
| Tomm7 |
A |
G |
5: 24,048,977 (GRCm39) |
I32T |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,036 (GRCm39) |
I1020T |
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,717 (GRCm39) |
S172A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,854 (GRCm39) |
M247K |
probably benign |
Het |
| Zfp341 |
T |
C |
2: 154,470,907 (GRCm39) |
L308P |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 126,986,781 (GRCm39) |
S154P |
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 |
|
|
R4415: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'- CAGACACTGGCTTATTTATGCAC -3'
Sequencing Primer
(F):5'- GCGCGGGTCATCATGGG -3'
(R):5'- ACTTCTCCTTAGGACCTCCCAGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation