Incidental Mutation 'R6592:Slc51a'
| ID |
524664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc51a
|
| Ensembl Gene |
ENSMUSG00000035699 |
| Gene Name |
solute carrier family 51, alpha subunit |
| Synonyms |
Osta, OSTalpha, D630035O19Rik |
| MMRRC Submission |
044716-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R6592 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32294396-32306697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32294621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042042]
[ENSMUST00000079791]
[ENSMUST00000104893]
[ENSMUST00000115137]
[ENSMUST00000115140]
[ENSMUST00000231690]
|
| AlphaFold |
Q8R000 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042042
AA Change: D321G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046286
Gene: ENSMUSG00000035699
AA Change: D321G
| 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 |
0.3942 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
94% (31/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
A |
G |
10: 106,859,579 (GRCm39) |
V340A |
possibly damaging |
Het |
| Btbd17 |
T |
C |
11: 114,682,302 (GRCm39) |
Y470C |
probably damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cyp4v3 |
A |
T |
8: 45,760,018 (GRCm39) |
N511K |
probably benign |
Het |
| Efcab5 |
G |
T |
11: 77,004,436 (GRCm39) |
Q1097K |
possibly damaging |
Het |
| Epha7 |
T |
C |
4: 28,813,482 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,389,015 (GRCm39) |
Q572R |
probably benign |
Het |
| Gm17430 |
C |
T |
18: 9,726,514 (GRCm39) |
V53I |
probably benign |
Het |
| Gpr149 |
T |
C |
3: 62,437,961 (GRCm39) |
D732G |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,857,438 (GRCm39) |
|
probably null |
Het |
| Htt |
C |
T |
5: 35,034,388 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Lgmn |
C |
T |
12: 102,370,529 (GRCm39) |
V134I |
probably damaging |
Het |
| Lhfpl7 |
A |
G |
5: 113,382,329 (GRCm39) |
Y34C |
probably damaging |
Het |
| Lysmd1 |
A |
G |
3: 95,045,197 (GRCm39) |
S148G |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,002,947 (GRCm39) |
D1054G |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,718,983 (GRCm39) |
T640A |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,584,495 (GRCm39) |
E94G |
probably null |
Het |
| Or4a67 |
G |
A |
2: 88,598,471 (GRCm39) |
H63Y |
probably damaging |
Het |
| Or5v1 |
T |
A |
17: 37,809,988 (GRCm39) |
W149R |
probably damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,496 (GRCm39) |
V367A |
possibly damaging |
Het |
| Ppp1r1a |
A |
C |
15: 103,439,799 (GRCm39) |
D164E |
probably damaging |
Het |
| Proca1 |
G |
T |
11: 78,095,779 (GRCm39) |
S137I |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,844,634 (GRCm39) |
F459L |
possibly damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,437,626 (GRCm39) |
|
probably null |
Het |
| Tchhl1 |
T |
A |
3: 93,378,116 (GRCm39) |
D273E |
probably damaging |
Het |
| Tlk1 |
G |
A |
2: 70,544,497 (GRCm39) |
R713C |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,287,656 (GRCm39) |
I465T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,814,756 (GRCm39) |
I5M |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
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 |
|
R3751:Slc51a
|
UTSW |
16 |
32,295,292 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
|
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'- GGTTCAACCCACTGCACTTTAC -3'
(R):5'- TGGAGGTAAACTGGAGTCGTTC -3'
Sequencing Primer
(F):5'- TCCCTATAGTCACATGGAAGCTG -3'
(R):5'- AAACTGGAGTCGTTCAGCTTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation