Incidental Mutation 'R7633:Slco1a6'
| ID |
589752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a6
|
| Ensembl Gene |
ENSMUSG00000079262 |
| Gene Name |
solute carrier organic anion transporter family, member 1a6 |
| Synonyms |
Slc21a13, organic anion-transporting polypeptide, 4930422F19Rik, Oatp-5 |
| MMRRC Submission |
045721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R7633 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142085761-142208521 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142145755 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 73
(I73N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
| AlphaFold |
Q99J94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111827
AA Change: I73N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: I73N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
421 |
7.8e-26 |
PFAM |
|
Pfam:OATP
|
21 |
597 |
1.3e-163 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
2.7e-11 |
PFAM |
|
transmembrane domain
|
600 |
619 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
C |
A |
11: 58,447,478 (GRCm38) |
M29I |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,558,995 (GRCm38) |
R92S |
unknown |
Het |
| Acaca |
A |
G |
11: 84,372,639 (GRCm38) |
I2029V |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,948,584 (GRCm38) |
D1138A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,947,118 (GRCm38) |
V2508E |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,729,399 (GRCm38) |
|
probably null |
Het |
| C530008M17Rik |
A |
G |
5: 76,857,520 (GRCm38) |
E576G |
unknown |
Het |
| Cd46 |
A |
T |
1: 195,083,619 (GRCm38) |
M146K |
probably null |
Het |
| Chp1 |
A |
G |
2: 119,560,745 (GRCm38) |
I28V |
probably benign |
Het |
| Chrnb1 |
T |
A |
11: 69,792,873 (GRCm38) |
R216W |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,782,112 (GRCm38) |
T392M |
probably benign |
Het |
| Dcxr |
A |
C |
11: 120,726,453 (GRCm38) |
L88R |
probably benign |
Het |
| Dedd |
C |
T |
1: 171,338,910 (GRCm38) |
P138L |
probably benign |
Het |
| Degs1 |
A |
G |
1: 182,279,698 (GRCm38) |
S35P |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,815,780 (GRCm38) |
D851G |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 59,981,534 (GRCm38) |
D521G |
probably damaging |
Het |
| Fam26d |
G |
A |
10: 34,043,908 (GRCm38) |
T121M |
possibly damaging |
Het |
| Gm14085 |
A |
T |
2: 122,486,680 (GRCm38) |
R7S |
probably null |
Het |
| Gm21731 |
G |
A |
13: 120,240,840 (GRCm38) |
W57* |
probably null |
Het |
| Gm6882 |
A |
G |
7: 21,427,652 (GRCm38) |
V97A |
probably damaging |
Het |
| Hgs |
A |
T |
11: 120,474,302 (GRCm38) |
Q172L |
probably damaging |
Het |
| Hormad2 |
T |
C |
11: 4,346,662 (GRCm38) |
Q274R |
probably benign |
Het |
| Igkv8-19 |
C |
T |
6: 70,341,399 (GRCm38) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 22,671,741 (GRCm38) |
N377S |
probably benign |
Het |
| Intu |
G |
A |
3: 40,654,253 (GRCm38) |
G232S |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,797,065 (GRCm38) |
S806P |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,583 (GRCm38) |
F194L |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,158,622 (GRCm38) |
I160K |
probably benign |
Het |
| Nup155 |
C |
G |
15: 8,109,453 (GRCm38) |
S3W |
probably damaging |
Het |
| Olfr1287 |
A |
G |
2: 111,449,622 (GRCm38) |
I161V |
probably benign |
Het |
| Olfr284 |
A |
G |
15: 98,340,086 (GRCm38) |
I301T |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,956,151 (GRCm38) |
F147L |
possibly damaging |
Het |
| Ppfia1 |
T |
C |
7: 144,552,436 (GRCm38) |
D33G |
possibly damaging |
Het |
| Prdm11 |
G |
A |
2: 92,980,654 (GRCm38) |
A200V |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,456,629 (GRCm38) |
I1123K |
unknown |
Het |
| Rgs1 |
A |
G |
1: 144,248,477 (GRCm38) |
|
probably null |
Het |
| Skint7 |
T |
A |
4: 111,984,140 (GRCm38) |
V259E |
probably benign |
Het |
| Slc25a3 |
A |
T |
10: 91,118,042 (GRCm38) |
|
probably null |
Het |
| Sltm |
C |
G |
9: 70,586,673 (GRCm38) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 69,018,067 (GRCm38) |
|
probably benign |
Het |
| Spock2 |
G |
A |
10: 60,126,180 (GRCm38) |
D206N |
probably damaging |
Het |
| Stard3nl |
T |
G |
13: 19,367,838 (GRCm38) |
R185S |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,197,099 (GRCm38) |
Y18H |
probably benign |
Het |
| Synpo |
G |
A |
18: 60,603,428 (GRCm38) |
T482I |
probably damaging |
Het |
| Tmc6 |
G |
T |
11: 117,769,220 (GRCm38) |
T694K |
probably benign |
Het |
| Trim59 |
T |
A |
3: 69,037,926 (GRCm38) |
H27L |
probably damaging |
Het |
| Trpv2 |
G |
A |
11: 62,591,006 (GRCm38) |
|
probably null |
Het |
| Tyw5 |
A |
T |
1: 57,393,485 (GRCm38) |
D117E |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,861,147 (GRCm38) |
Y320H |
probably damaging |
Het |
| Usp31 |
T |
C |
7: 121,658,962 (GRCm38) |
D694G |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,843,023 (GRCm38) |
T195S |
probably damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,425,089 (GRCm38) |
V517M |
possibly damaging |
Het |
| Yipf1 |
A |
G |
4: 107,318,996 (GRCm38) |
N29S |
probably benign |
Het |
| Zfp954 |
A |
T |
7: 7,115,824 (GRCm38) |
F240L |
possibly damaging |
Het |
|
| Other mutations in Slco1a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Slco1a6
|
APN |
6 |
142,161,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00430:Slco1a6
|
APN |
6 |
142,101,651 (GRCm38) |
nonsense |
probably null |
|
|
IGL00541:Slco1a6
|
APN |
6 |
142,096,299 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01340:Slco1a6
|
APN |
6 |
142,109,383 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01693:Slco1a6
|
APN |
6 |
142,133,209 (GRCm38) |
nonsense |
probably null |
|
|
IGL01713:Slco1a6
|
APN |
6 |
142,086,567 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01828:Slco1a6
|
APN |
6 |
142,096,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02049:Slco1a6
|
APN |
6 |
142,101,583 (GRCm38) |
splice site |
probably benign |
|
|
IGL02085:Slco1a6
|
APN |
6 |
142,086,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02245:Slco1a6
|
APN |
6 |
142,109,424 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02549:Slco1a6
|
APN |
6 |
142,096,415 (GRCm38) |
splice site |
probably benign |
|
|
IGL02698:Slco1a6
|
APN |
6 |
142,103,011 (GRCm38) |
nonsense |
probably null |
|
|
IGL02948:Slco1a6
|
APN |
6 |
142,133,235 (GRCm38) |
splice site |
probably null |
|
|
IGL03075:Slco1a6
|
APN |
6 |
142,103,149 (GRCm38) |
splice site |
probably benign |
|
|
PIT4585001:Slco1a6
|
UTSW |
6 |
142,109,520 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0008:Slco1a6
|
UTSW |
6 |
142,157,222 (GRCm38) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,157,390 (GRCm38) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,157,390 (GRCm38) |
unclassified |
probably benign |
|
|
R0173:Slco1a6
|
UTSW |
6 |
142,103,122 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1642:Slco1a6
|
UTSW |
6 |
142,086,434 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1939:Slco1a6
|
UTSW |
6 |
142,133,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2256:Slco1a6
|
UTSW |
6 |
142,091,016 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2257:Slco1a6
|
UTSW |
6 |
142,091,016 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2696:Slco1a6
|
UTSW |
6 |
142,112,936 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2902:Slco1a6
|
UTSW |
6 |
142,096,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4602:Slco1a6
|
UTSW |
6 |
142,101,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4611:Slco1a6
|
UTSW |
6 |
142,101,652 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4958:Slco1a6
|
UTSW |
6 |
142,145,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5256:Slco1a6
|
UTSW |
6 |
142,132,701 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5347:Slco1a6
|
UTSW |
6 |
142,086,599 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6130:Slco1a6
|
UTSW |
6 |
142,086,429 (GRCm38) |
missense |
probably benign |
0.26 |
|
R6384:Slco1a6
|
UTSW |
6 |
142,109,379 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6543:Slco1a6
|
UTSW |
6 |
142,133,146 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6662:Slco1a6
|
UTSW |
6 |
142,133,215 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6687:Slco1a6
|
UTSW |
6 |
142,099,350 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6702:Slco1a6
|
UTSW |
6 |
142,103,100 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7012:Slco1a6
|
UTSW |
6 |
142,086,561 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7140:Slco1a6
|
UTSW |
6 |
142,103,019 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7392:Slco1a6
|
UTSW |
6 |
142,157,277 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7399:Slco1a6
|
UTSW |
6 |
142,091,068 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7476:Slco1a6
|
UTSW |
6 |
142,103,001 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7621:Slco1a6
|
UTSW |
6 |
142,161,017 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8139:Slco1a6
|
UTSW |
6 |
142,089,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8177:Slco1a6
|
UTSW |
6 |
142,101,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8768:Slco1a6
|
UTSW |
6 |
142,133,171 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8957:Slco1a6
|
UTSW |
6 |
142,145,767 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9090:Slco1a6
|
UTSW |
6 |
142,089,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Slco1a6
|
UTSW |
6 |
142,089,849 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGAGAGGAAATTCAGAGCTTC -3'
(R):5'- AGCAGTCCAGGAGGGTTATAATGTC -3'
Sequencing Primer
(F):5'- GAGAGGAAATTCAGAGCTTCATTTCC -3'
(R):5'- CCAGGAGGGTTATAATGTCTGGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation