Incidental Mutation 'R3751:Slc51a'
| ID |
271234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc51a
|
| Ensembl Gene |
ENSMUSG00000035699 |
| Gene Name |
solute carrier family 51, alpha subunit |
| Synonyms |
Osta, OSTalpha, D630035O19Rik |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32294396-32306697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32295292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 262
(L262P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042042]
[ENSMUST00000079791]
[ENSMUST00000104893]
[ENSMUST00000115137]
[ENSMUST00000115140]
[ENSMUST00000231690]
|
| AlphaFold |
Q8R000 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042042
AA Change: L262P
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046286
Gene: ENSMUSG00000035699
AA Change: L262P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Solute_trans_a
|
53 |
321 |
2.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079791
|
| SMART Domains |
Protein: ENSMUSP00000078721
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
80 |
208 |
6.4e-24 |
PFAM |
|
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104893
|
| SMART Domains |
Protein: ENSMUSP00000130056
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
80 |
208 |
6.4e-24 |
PFAM |
|
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115137
|
| SMART Domains |
Protein: ENSMUSP00000110790
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
80 |
201 |
4.1e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115140
|
| SMART Domains |
Protein: ENSMUSP00000110793
Gene: ENSMUSG00000005615
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
80 |
208 |
3.2e-33 |
PFAM |
|
low complexity region
|
244 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
352 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231690
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232418
|
| Meta Mutation Damage Score |
0.4108 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit growth retardation. In addition, one mutant exhibits impaired intestinal bile acid transport. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,123 (GRCm39) |
S263P |
possibly damaging |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
| Other mutations in Slc51a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03160:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03201:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03227:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03228:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Slc51a
|
APN |
16 |
32,297,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Slc51a
|
UTSW |
16 |
32,296,425 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0419:Slc51a
|
UTSW |
16 |
32,295,254 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0744:Slc51a
|
UTSW |
16 |
32,294,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0836:Slc51a
|
UTSW |
16 |
32,294,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5089:Slc51a
|
UTSW |
16 |
32,296,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5424:Slc51a
|
UTSW |
16 |
32,297,565 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5924:Slc51a
|
UTSW |
16 |
32,295,990 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6020:Slc51a
|
UTSW |
16 |
32,298,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Slc51a
|
UTSW |
16 |
32,294,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6687:Slc51a
|
UTSW |
16 |
32,298,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7267:Slc51a
|
UTSW |
16 |
32,298,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7876:Slc51a
|
UTSW |
16 |
32,297,601 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8323:Slc51a
|
UTSW |
16 |
32,295,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9342:Slc51a
|
UTSW |
16 |
32,298,517 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9455:Slc51a
|
UTSW |
16 |
32,305,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCAGACATCAGGTTGG -3'
(R):5'- ACCCTAATGAATATGAGGCAGG -3'
Sequencing Primer
(F):5'- AGACATCAGGTTGGCCCCC -3'
(R):5'- GGCAGGAACAGGATTATAATTTGAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation