Incidental Mutation 'R8997:Slco4c1'
| ID |
684748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco4c1
|
| Ensembl Gene |
ENSMUSG00000040693 |
| Gene Name |
solute carrier organic anion transporter family, member 4C1 |
| Synonyms |
C330017E21Rik, SLC21A20, PRO2176, OATP4C1, OATP-M1, OATP-H |
| MMRRC Submission |
068828-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R8997 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
96744918-96800027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96795672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 129
(I129F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071985]
|
| AlphaFold |
Q8BGD4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071985
AA Change: I129F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071875
Gene: ENSMUSG00000040693
AA Change: I129F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
102 |
483 |
1.3e-19 |
PFAM |
|
KAZAL
|
503 |
547 |
1.67e-1 |
SMART |
|
transmembrane domain
|
666 |
688 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.1%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
G |
T |
1: 11,615,491 (GRCm39) |
E155* |
probably null |
Het |
| Abhd17a |
T |
C |
10: 80,422,470 (GRCm39) |
T71A |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Adra2a |
T |
C |
19: 54,035,729 (GRCm39) |
S362P |
probably benign |
Het |
| Arid1a |
T |
A |
4: 133,421,343 (GRCm39) |
N436Y |
unknown |
Het |
| Cma2 |
T |
A |
14: 56,210,201 (GRCm39) |
C85S |
probably benign |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Cntn3 |
A |
G |
6: 102,181,023 (GRCm39) |
V724A |
probably damaging |
Het |
| Dennd1a |
C |
T |
2: 37,690,497 (GRCm39) |
G868R |
probably benign |
Het |
| Disp2 |
C |
T |
2: 118,617,467 (GRCm39) |
P154S |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,823,528 (GRCm39) |
D171G |
possibly damaging |
Het |
| Dpp4 |
A |
C |
2: 62,164,958 (GRCm39) |
I697S |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,003 (GRCm39) |
D1837E |
probably benign |
Het |
| Fbxo39 |
T |
A |
11: 72,208,466 (GRCm39) |
S273T |
probably damaging |
Het |
| Fgf5 |
A |
T |
5: 98,423,411 (GRCm39) |
*265C |
probably null |
Het |
| Fscb |
A |
G |
12: 64,520,758 (GRCm39) |
V236A |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,510,747 (GRCm39) |
T614S |
probably damaging |
Het |
| Gtdc1 |
A |
T |
2: 44,715,386 (GRCm39) |
N52K |
probably benign |
Het |
| Il6ra |
T |
C |
3: 89,794,418 (GRCm39) |
D181G |
probably damaging |
Het |
| Inhba |
T |
G |
13: 16,201,107 (GRCm39) |
V223G |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,513,037 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,018,236 (GRCm39) |
W1068L |
probably null |
Het |
| Mdn1 |
T |
C |
4: 32,773,275 (GRCm39) |
L5485P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,518,763 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,959,577 (GRCm39) |
F338L |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 156,721,918 (GRCm39) |
I164N |
probably damaging |
Het |
| Nek9 |
A |
T |
12: 85,367,565 (GRCm39) |
C369S |
probably benign |
Het |
| Ninl |
C |
T |
2: 150,801,816 (GRCm39) |
E151K |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,595,982 (GRCm39) |
S494R |
possibly damaging |
Het |
| Nphp4 |
G |
A |
4: 152,623,345 (GRCm39) |
R673H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,934,629 (GRCm39) |
|
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,091,575 (GRCm39) |
S82P |
probably benign |
Het |
| Pcdhgb1 |
C |
A |
18: 37,814,133 (GRCm39) |
P208Q |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,018,517 (GRCm39) |
E988G |
possibly damaging |
Het |
| Rfc1 |
A |
T |
5: 65,433,064 (GRCm39) |
M722K |
probably damaging |
Het |
| Rnf111 |
A |
T |
9: 70,383,545 (GRCm39) |
N129K |
probably damaging |
Het |
| Sdccag8 |
C |
A |
1: 176,783,374 (GRCm39) |
L628I |
probably damaging |
Het |
| Sgcz |
G |
T |
8: 39,127,894 (GRCm39) |
D8E |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,790,781 (GRCm39) |
F254L |
|
Het |
| Shf |
A |
G |
2: 122,187,728 (GRCm39) |
L26P |
probably damaging |
Het |
| Slc39a5 |
G |
A |
10: 128,232,348 (GRCm39) |
A484V |
probably damaging |
Het |
| Tbck |
A |
T |
3: 132,440,106 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
| Teddm3 |
A |
T |
16: 20,971,687 (GRCm39) |
V294E |
probably damaging |
Het |
| Tent4b |
T |
A |
8: 88,979,023 (GRCm39) |
V508D |
probably benign |
Het |
| Treml1 |
A |
T |
17: 48,667,466 (GRCm39) |
H117L |
probably damaging |
Het |
| Trip12 |
G |
T |
1: 84,771,596 (GRCm39) |
T184N |
probably benign |
Het |
| Tuba3b |
G |
T |
6: 145,566,954 (GRCm39) |
M398I |
possibly damaging |
Het |
| Vcam1 |
T |
C |
3: 115,910,977 (GRCm39) |
I474V |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,688,977 (GRCm39) |
M415R |
probably damaging |
Het |
| Zfp14 |
A |
T |
7: 29,737,600 (GRCm39) |
F462I |
probably damaging |
Het |
| Zfp846 |
G |
A |
9: 20,505,726 (GRCm39) |
V529I |
probably benign |
Het |
| Zfp873 |
A |
G |
10: 81,896,990 (GRCm39) |
T574A |
probably benign |
Het |
|
| Other mutations in Slco4c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Slco4c1
|
APN |
1 |
96,768,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01510:Slco4c1
|
APN |
1 |
96,795,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01674:Slco4c1
|
APN |
1 |
96,770,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Slco4c1
|
APN |
1 |
96,772,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Slco4c1
|
APN |
1 |
96,770,232 (GRCm39) |
nonsense |
probably null |
|
|
H8562:Slco4c1
|
UTSW |
1 |
96,770,210 (GRCm39) |
missense |
probably benign |
0.01 |
|
H8786:Slco4c1
|
UTSW |
1 |
96,768,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0350:Slco4c1
|
UTSW |
1 |
96,756,574 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0463:Slco4c1
|
UTSW |
1 |
96,795,645 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0550:Slco4c1
|
UTSW |
1 |
96,795,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1122:Slco4c1
|
UTSW |
1 |
96,756,561 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1205:Slco4c1
|
UTSW |
1 |
96,795,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1215:Slco4c1
|
UTSW |
1 |
96,756,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Slco4c1
|
UTSW |
1 |
96,768,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1466:Slco4c1
|
UTSW |
1 |
96,768,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1907:Slco4c1
|
UTSW |
1 |
96,770,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Slco4c1
|
UTSW |
1 |
96,795,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2372:Slco4c1
|
UTSW |
1 |
96,748,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3424:Slco4c1
|
UTSW |
1 |
96,768,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3425:Slco4c1
|
UTSW |
1 |
96,768,976 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4292:Slco4c1
|
UTSW |
1 |
96,772,381 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4656:Slco4c1
|
UTSW |
1 |
96,768,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4852:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Slco4c1
|
UTSW |
1 |
96,765,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Slco4c1
|
UTSW |
1 |
96,768,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Slco4c1
|
UTSW |
1 |
96,770,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5356:Slco4c1
|
UTSW |
1 |
96,759,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5471:Slco4c1
|
UTSW |
1 |
96,799,770 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5683:Slco4c1
|
UTSW |
1 |
96,795,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Slco4c1
|
UTSW |
1 |
96,746,829 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5801:Slco4c1
|
UTSW |
1 |
96,799,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5837:Slco4c1
|
UTSW |
1 |
96,746,707 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6242:Slco4c1
|
UTSW |
1 |
96,767,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7014:Slco4c1
|
UTSW |
1 |
96,751,506 (GRCm39) |
splice site |
probably null |
|
|
R7112:Slco4c1
|
UTSW |
1 |
96,768,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7174:Slco4c1
|
UTSW |
1 |
96,765,323 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7265:Slco4c1
|
UTSW |
1 |
96,799,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7275:Slco4c1
|
UTSW |
1 |
96,799,497 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7305:Slco4c1
|
UTSW |
1 |
96,756,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Slco4c1
|
UTSW |
1 |
96,765,245 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7649:Slco4c1
|
UTSW |
1 |
96,756,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7980:Slco4c1
|
UTSW |
1 |
96,764,650 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8137:Slco4c1
|
UTSW |
1 |
96,748,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Slco4c1
|
UTSW |
1 |
96,772,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Slco4c1
|
UTSW |
1 |
96,759,736 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8956:Slco4c1
|
UTSW |
1 |
96,765,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Slco4c1
|
UTSW |
1 |
96,748,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Slco4c1
|
UTSW |
1 |
96,764,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9263:Slco4c1
|
UTSW |
1 |
96,799,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Slco4c1
|
UTSW |
1 |
96,795,644 (GRCm39) |
nonsense |
probably null |
|
|
R9513:Slco4c1
|
UTSW |
1 |
96,799,643 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Slco4c1
|
UTSW |
1 |
96,748,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGGAAAACACCAGCGCT -3'
(R):5'- GGCCTAACTTTGATACTTCAGACACAT -3'
Sequencing Primer
(F):5'- GCTCCCAGGCCTATCATAAAGGATG -3'
(R):5'- CTCCACCTGTATATGTAGCAGAGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation