Incidental Mutation 'R2316:Slc5a4a'
| ID |
245500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a4a
|
| Ensembl Gene |
ENSMUSG00000020229 |
| Gene Name |
solute carrier family 5, member 4a |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75983285-76025099 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 76013915 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
[ENSMUST00000020450]
[ENSMUST00000020450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020450
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
492 |
4e-161 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
636 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020450
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
492 |
4e-161 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
636 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000020450
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
26 |
48 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
492 |
4e-161 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
636 |
655 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
| Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
| Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
| Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,306,213 (GRCm39) |
D366G |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
| Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
| Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
| Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
| Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
| Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
| Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
| Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
| Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
| Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
| Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
| Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
| Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
| Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
| Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
probably benign |
Het |
|
| Other mutations in Slc5a4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Slc5a4a
|
APN |
10 |
75,999,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01725:Slc5a4a
|
APN |
10 |
76,017,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02629:Slc5a4a
|
APN |
10 |
75,983,413 (GRCm39) |
missense |
unknown |
|
|
IGL02976:Slc5a4a
|
APN |
10 |
76,006,527 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03255:Slc5a4a
|
APN |
10 |
75,986,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03258:Slc5a4a
|
APN |
10 |
75,986,386 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0054:Slc5a4a
|
UTSW |
10 |
76,014,031 (GRCm39) |
missense |
probably null |
0.00 |
|
R0244:Slc5a4a
|
UTSW |
10 |
76,024,986 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0398:Slc5a4a
|
UTSW |
10 |
76,018,556 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0799:Slc5a4a
|
UTSW |
10 |
76,012,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1160:Slc5a4a
|
UTSW |
10 |
76,013,995 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1471:Slc5a4a
|
UTSW |
10 |
76,022,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1720:Slc5a4a
|
UTSW |
10 |
76,025,103 (GRCm39) |
splice site |
probably null |
|
|
R1857:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1858:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1859:Slc5a4a
|
UTSW |
10 |
76,002,569 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1942:Slc5a4a
|
UTSW |
10 |
75,983,422 (GRCm39) |
missense |
unknown |
|
|
R2016:Slc5a4a
|
UTSW |
10 |
75,989,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3421:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3422:Slc5a4a
|
UTSW |
10 |
76,012,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3845:Slc5a4a
|
UTSW |
10 |
76,024,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3874:Slc5a4a
|
UTSW |
10 |
76,017,489 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4523:Slc5a4a
|
UTSW |
10 |
75,984,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4537:Slc5a4a
|
UTSW |
10 |
76,013,929 (GRCm39) |
nonsense |
probably null |
|
|
R4538:Slc5a4a
|
UTSW |
10 |
76,013,929 (GRCm39) |
nonsense |
probably null |
|
|
R4755:Slc5a4a
|
UTSW |
10 |
76,022,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4868:Slc5a4a
|
UTSW |
10 |
76,014,065 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5135:Slc5a4a
|
UTSW |
10 |
75,983,428 (GRCm39) |
missense |
unknown |
|
|
R5254:Slc5a4a
|
UTSW |
10 |
76,018,572 (GRCm39) |
nonsense |
probably null |
|
|
R6083:Slc5a4a
|
UTSW |
10 |
75,983,431 (GRCm39) |
missense |
unknown |
|
|
R6331:Slc5a4a
|
UTSW |
10 |
76,014,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7591:Slc5a4a
|
UTSW |
10 |
75,983,501 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7671:Slc5a4a
|
UTSW |
10 |
75,983,384 (GRCm39) |
missense |
unknown |
|
|
R8785:Slc5a4a
|
UTSW |
10 |
75,986,238 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8929:Slc5a4a
|
UTSW |
10 |
76,006,617 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8993:Slc5a4a
|
UTSW |
10 |
76,022,369 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9018:Slc5a4a
|
UTSW |
10 |
76,002,546 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9474:Slc5a4a
|
UTSW |
10 |
75,986,238 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R9567:Slc5a4a
|
UTSW |
10 |
76,022,396 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9648:Slc5a4a
|
UTSW |
10 |
76,002,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc5a4a
|
UTSW |
10 |
76,018,681 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Slc5a4a
|
UTSW |
10 |
76,002,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCGATCACCAGGAGTTAC -3'
(R):5'- TGCAAACTCTAGTCTGCCTC -3'
Sequencing Primer
(F):5'- GAGTTACACAGGAAGCTCCACCTG -3'
(R):5'- CCTTCCTCAGAGGGGTTCTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation