Incidental Mutation 'R3845:Slc5a4a'
| ID |
277333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a4a
|
| Ensembl Gene |
ENSMUSG00000020229 |
| Gene Name |
solute carrier family 5, member 4a |
| Synonyms |
|
| MMRRC Submission |
040893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75983285-76025099 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76024983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 620
(E620G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020450
AA Change: E620G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: E620G
| 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 |
|
| Meta Mutation Damage Score |
0.0951 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,416,540 (GRCm39) |
N439S |
probably null |
Het |
| AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
| Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,407,003 (GRCm39) |
I217T |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
| Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
| Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
| Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
| Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
| Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
| Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
| Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,187,122 (GRCm39) |
V109A |
possibly damaging |
Het |
| Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
| Trim16 |
T |
G |
11: 62,727,498 (GRCm39) |
|
probably benign |
Het |
| Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly damaging |
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 |
|
R2316:Slc5a4a
|
UTSW |
10 |
76,013,915 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- AAATACTTCCTCATGATCCTTCTGG -3'
(R):5'- ACCAATTGCTAATGGCCTCC -3'
Sequencing Primer
(F):5'- GATCCTTCTGGCTCTTGTAAAAATTG -3'
(R):5'- CAATTGCTAATGGCCTCCTGTAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation