Incidental Mutation 'IGL02870:Retsat'
| ID |
362525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Retsat
|
| Ensembl Gene |
ENSMUSG00000056666 |
| Gene Name |
retinol saturase (all trans retinol 13,14 reductase) |
| Synonyms |
0610039N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
IGL02870
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
72575585-72584471 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72584007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 500
(Y500H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070524]
[ENSMUST00000070597]
[ENSMUST00000176168]
[ENSMUST00000176364]
|
| AlphaFold |
Q64FW2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070524
|
| SMART Domains |
Protein: ENSMUSP00000068487
Gene: ENSMUSG00000056429
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
260 |
N/A |
INTRINSIC |
|
transmembrane domain
|
300 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070597
AA Change: Y561H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068568
Gene: ENSMUSG00000056666
AA Change: Y561H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
68 |
113 |
8.9e-9 |
PFAM |
|
Pfam:NAD_binding_8
|
71 |
136 |
1.3e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
76 |
587 |
2.7e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129071
AA Change: Y82H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175824
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176168
AA Change: Y352H
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135421
Gene: ENSMUSG00000056666
AA Change: Y352H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1gpea1
|
95 |
175 |
6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176364
AA Change: Y500H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134847
Gene: ENSMUSG00000056666
AA Change: Y500H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SCOP:d1d5ta1
|
91 |
290 |
7e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205878
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are deficient in the production of all-trans-13,14-dihydroretinol from dietary vitamin A and exhibit increased adiposity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,711,851 (GRCm39) |
V1042M |
probably benign |
Het |
| Agmat |
C |
A |
4: 141,474,253 (GRCm39) |
H45N |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,258,936 (GRCm39) |
V520D |
probably damaging |
Het |
| Ccser1 |
T |
A |
6: 61,288,276 (GRCm39) |
N146K |
probably damaging |
Het |
| Cdhr4 |
T |
A |
9: 107,875,263 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,034,994 (GRCm39) |
I224T |
probably benign |
Het |
| Ddx19a |
G |
T |
8: 111,710,258 (GRCm39) |
P114Q |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,753,452 (GRCm39) |
V275A |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,881,026 (GRCm39) |
S627P |
probably damaging |
Het |
| Flywch1 |
C |
T |
17: 23,974,876 (GRCm39) |
G541D |
probably damaging |
Het |
| Grk2 |
T |
C |
19: 4,340,430 (GRCm39) |
D317G |
probably damaging |
Het |
| H2-M5 |
T |
C |
17: 37,299,925 (GRCm39) |
E83G |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,154,037 (GRCm39) |
F658L |
probably damaging |
Het |
| Hmmr |
G |
T |
11: 40,604,902 (GRCm39) |
Q390K |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,461,416 (GRCm39) |
T2548S |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,370,043 (GRCm39) |
A33V |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,104,768 (GRCm39) |
R684W |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,493,722 (GRCm39) |
V315M |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,836,673 (GRCm39) |
K115* |
probably null |
Het |
| Plcxd1 |
A |
G |
5: 110,249,271 (GRCm39) |
T33A |
probably damaging |
Het |
| Ranbp17 |
A |
G |
11: 33,193,262 (GRCm39) |
S931P |
probably damaging |
Het |
| Rfx8 |
C |
T |
1: 39,722,871 (GRCm39) |
V249I |
possibly damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,889,867 (GRCm39) |
I599L |
unknown |
Het |
| Sardh |
A |
T |
2: 27,125,503 (GRCm39) |
I337N |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,378,017 (GRCm39) |
M237L |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,809,303 (GRCm39) |
S97G |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,861,354 (GRCm39) |
D2520G |
probably benign |
Het |
| Tnfrsf11b |
C |
T |
15: 54,119,423 (GRCm39) |
V184M |
probably benign |
Het |
| Trpv4 |
A |
T |
5: 114,763,117 (GRCm39) |
V764E |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,655,057 (GRCm39) |
A430E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,949 (GRCm39) |
R23315G |
probably damaging |
Het |
| Txnrd1 |
A |
G |
10: 82,731,813 (GRCm39) |
I478M |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,410,555 (GRCm39) |
V2401A |
probably benign |
Het |
| Vill |
T |
C |
9: 118,890,967 (GRCm39) |
L191P |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,355 (GRCm39) |
V159A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,421,740 (GRCm39) |
N939K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,003,337 (GRCm39) |
V2926A |
probably damaging |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,231,086 (GRCm39) |
T471N |
probably damaging |
Het |
|
| Other mutations in Retsat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Retsat
|
APN |
6 |
72,584,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01816:Retsat
|
APN |
6 |
72,578,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01993:Retsat
|
APN |
6 |
72,581,978 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02212:Retsat
|
APN |
6 |
72,578,693 (GRCm39) |
nonsense |
probably null |
|
|
IGL02719:Retsat
|
APN |
6 |
72,580,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03352:Retsat
|
APN |
6 |
72,575,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0135:Retsat
|
UTSW |
6 |
72,579,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0487:Retsat
|
UTSW |
6 |
72,583,414 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1173:Retsat
|
UTSW |
6 |
72,580,634 (GRCm39) |
unclassified |
probably benign |
|
|
R1716:Retsat
|
UTSW |
6 |
72,583,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1718:Retsat
|
UTSW |
6 |
72,579,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Retsat
|
UTSW |
6 |
72,583,558 (GRCm39) |
nonsense |
probably null |
|
|
R4976:Retsat
|
UTSW |
6 |
72,578,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Retsat
|
UTSW |
6 |
72,578,518 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5669:Retsat
|
UTSW |
6 |
72,582,993 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6247:Retsat
|
UTSW |
6 |
72,581,918 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6675:Retsat
|
UTSW |
6 |
72,578,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7200:Retsat
|
UTSW |
6 |
72,583,002 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7939:Retsat
|
UTSW |
6 |
72,581,919 (GRCm39) |
missense |
probably benign |
|
|
R9055:Retsat
|
UTSW |
6 |
72,583,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-12-18 |
Incidental Mutation