Incidental Mutation 'R7931:Slco6d1'
| ID |
643572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6d1
|
| Ensembl Gene |
ENSMUSG00000026336 |
| Gene Name |
solute carrier organic anion transporter family, member 6d1 |
| Synonyms |
4921511I05Rik |
| MMRRC Submission |
045978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7931 (G1)
|
| Quality Score |
999 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98356141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 235
(D235G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
| AlphaFold |
Q9D5W6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027575
AA Change: D235G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
86 |
463 |
1.8e-13 |
PFAM |
|
KAZAL
|
483 |
527 |
2.3e0 |
SMART |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160796
AA Change: D235G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: D235G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
86 |
463 |
2.4e-13 |
PFAM |
|
KAZAL
|
483 |
527 |
2.3e0 |
SMART |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162468
AA Change: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336
AA Change: D192G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
64 |
313 |
2.1e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
A |
T |
2: 91,037,060 (GRCm39) |
|
probably null |
Het |
| Aire |
G |
A |
10: 77,866,130 (GRCm39) |
A536V |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,294,645 (GRCm39) |
I951M |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,950,848 (GRCm39) |
C2190F |
probably damaging |
Het |
| C1s1 |
C |
T |
6: 124,510,359 (GRCm39) |
V363M |
probably damaging |
Het |
| Col7a1 |
C |
A |
9: 108,809,590 (GRCm39) |
|
probably benign |
Het |
| Coq10b |
A |
G |
1: 55,092,152 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,352,456 (GRCm39) |
D48E |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,095,763 (GRCm39) |
V559A |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,323,614 (GRCm39) |
I610V |
probably benign |
Het |
| F7 |
A |
G |
8: 13,085,209 (GRCm39) |
I412V |
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,201,351 (GRCm39) |
|
probably benign |
Het |
| Hoxa13 |
G |
GCA |
6: 52,237,620 (GRCm39) |
|
probably null |
Het |
| Igkv4-70 |
C |
A |
6: 69,244,975 (GRCm39) |
R82L |
probably damaging |
Het |
| Lnp1 |
T |
A |
16: 56,748,281 (GRCm39) |
R4* |
probably null |
Het |
| Lrrc3b |
T |
C |
14: 15,358,018 (GRCm38) |
N196S |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,588,558 (GRCm39) |
D816G |
probably damaging |
Het |
| Myh7 |
C |
T |
14: 55,221,119 (GRCm39) |
E935K |
possibly damaging |
Het |
| Myom3 |
A |
T |
4: 135,516,947 (GRCm39) |
H839L |
probably benign |
Het |
| Nebl |
C |
T |
2: 17,381,433 (GRCm39) |
|
probably null |
Het |
| Ninj1 |
T |
C |
13: 49,347,432 (GRCm39) |
I99T |
probably damaging |
Het |
| Nvl |
C |
T |
1: 180,936,720 (GRCm39) |
|
probably benign |
Het |
| Or11g1 |
A |
C |
14: 50,651,786 (GRCm39) |
M262L |
probably damaging |
Het |
| Or2l5 |
A |
G |
16: 19,334,258 (GRCm39) |
S43P |
possibly damaging |
Het |
| Or4a76 |
T |
A |
2: 89,460,448 (GRCm39) |
I265F |
possibly damaging |
Het |
| Or8g55 |
A |
T |
9: 39,785,146 (GRCm39) |
T192S |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,445,364 (GRCm39) |
H174R |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,510 (GRCm39) |
N157D |
possibly damaging |
Het |
| Prss44 |
A |
C |
9: 110,643,746 (GRCm39) |
Q130P |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,574,987 (GRCm39) |
S344I |
probably benign |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,566 (GRCm39) |
I33V |
possibly damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,148,156 (GRCm39) |
S110G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,784,267 (GRCm39) |
K157N |
possibly damaging |
Het |
| Serpina1d |
A |
T |
12: 103,733,815 (GRCm39) |
V163D |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,205,428 (GRCm39) |
S56P |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,318,640 (GRCm39) |
L636P |
probably benign |
Het |
| Slc6a1 |
T |
C |
6: 114,288,863 (GRCm39) |
F474S |
probably benign |
Het |
| Srgn |
A |
T |
10: 62,330,763 (GRCm39) |
M114K |
possibly damaging |
Het |
| Syne3 |
A |
T |
12: 104,929,491 (GRCm39) |
V243E |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,106,892 (GRCm39) |
|
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,804 (GRCm39) |
F118L |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,165,742 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
G |
17: 34,907,672 (GRCm39) |
T1239A |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,848,241 (GRCm39) |
I453M |
probably benign |
Het |
| Usp5 |
T |
C |
6: 124,801,409 (GRCm39) |
|
probably benign |
Het |
| Vmn1r157 |
C |
T |
7: 22,461,210 (GRCm39) |
A30V |
probably damaging |
Het |
| Vmn1r233 |
G |
A |
17: 21,214,125 (GRCm39) |
A275V |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,822,854 (GRCm39) |
R2976* |
probably null |
Het |
| Wdr75 |
T |
C |
1: 45,858,795 (GRCm39) |
F655L |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,650,114 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
C |
7: 16,166,909 (GRCm39) |
L747P |
unknown |
Het |
| Zfp268 |
G |
A |
4: 145,349,126 (GRCm39) |
D188N |
possibly damaging |
Het |
|
| Other mutations in Slco6d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Slco6d1
|
APN |
1 |
98,359,955 (GRCm39) |
splice site |
probably null |
|
|
IGL00678:Slco6d1
|
APN |
1 |
98,424,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00790:Slco6d1
|
APN |
1 |
98,348,925 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01694:Slco6d1
|
APN |
1 |
98,427,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Slco6d1
|
APN |
1 |
98,408,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Slco6d1
|
APN |
1 |
98,374,531 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02085:Slco6d1
|
APN |
1 |
98,371,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Slco6d1
|
APN |
1 |
98,408,397 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02736:Slco6d1
|
APN |
1 |
98,356,036 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03279:Slco6d1
|
APN |
1 |
98,394,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Slco6d1
|
UTSW |
1 |
98,356,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Slco6d1
|
UTSW |
1 |
98,356,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Slco6d1
|
UTSW |
1 |
98,351,050 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0326:Slco6d1
|
UTSW |
1 |
98,418,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0359:Slco6d1
|
UTSW |
1 |
98,394,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0554:Slco6d1
|
UTSW |
1 |
98,394,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0589:Slco6d1
|
UTSW |
1 |
98,427,472 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Slco6d1
|
UTSW |
1 |
98,355,994 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Slco6d1
|
UTSW |
1 |
98,349,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1316:Slco6d1
|
UTSW |
1 |
98,394,518 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1370:Slco6d1
|
UTSW |
1 |
98,350,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1401:Slco6d1
|
UTSW |
1 |
98,418,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Slco6d1
|
UTSW |
1 |
98,435,292 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1740:Slco6d1
|
UTSW |
1 |
98,356,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Slco6d1
|
UTSW |
1 |
98,418,274 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1827:Slco6d1
|
UTSW |
1 |
98,348,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2138:Slco6d1
|
UTSW |
1 |
98,371,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2849:Slco6d1
|
UTSW |
1 |
98,394,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3753:Slco6d1
|
UTSW |
1 |
98,427,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Slco6d1
|
UTSW |
1 |
98,391,571 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4429:Slco6d1
|
UTSW |
1 |
98,424,091 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4480:Slco6d1
|
UTSW |
1 |
98,435,299 (GRCm39) |
nonsense |
probably null |
|
|
R4656:Slco6d1
|
UTSW |
1 |
98,350,928 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4810:Slco6d1
|
UTSW |
1 |
98,350,979 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4814:Slco6d1
|
UTSW |
1 |
98,350,899 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5389:Slco6d1
|
UTSW |
1 |
98,371,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5504:Slco6d1
|
UTSW |
1 |
98,349,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5619:Slco6d1
|
UTSW |
1 |
98,423,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Slco6d1
|
UTSW |
1 |
98,408,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Slco6d1
|
UTSW |
1 |
98,427,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5878:Slco6d1
|
UTSW |
1 |
98,391,561 (GRCm39) |
splice site |
probably benign |
|
|
R6261:Slco6d1
|
UTSW |
1 |
98,427,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6450:Slco6d1
|
UTSW |
1 |
98,349,192 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6452:Slco6d1
|
UTSW |
1 |
98,348,937 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7338:Slco6d1
|
UTSW |
1 |
98,349,097 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7375:Slco6d1
|
UTSW |
1 |
98,349,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Slco6d1
|
UTSW |
1 |
98,349,082 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7567:Slco6d1
|
UTSW |
1 |
98,425,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Slco6d1
|
UTSW |
1 |
98,425,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8088:Slco6d1
|
UTSW |
1 |
98,394,431 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9021:Slco6d1
|
UTSW |
1 |
98,371,396 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9080:Slco6d1
|
UTSW |
1 |
98,348,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9123:Slco6d1
|
UTSW |
1 |
98,423,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Slco6d1
|
UTSW |
1 |
98,427,619 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAACCATGGTGCTGGTAGC -3'
(R):5'- AAAGCTTTTCAGTGACGTTTAGCTG -3'
Sequencing Primer
(F):5'- ACATTTAATTTCTGAACTCAATTCGG -3'
(R):5'- CAGTGACGTTTAGCTGATTTAACTAC -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation