Incidental Mutation 'R7591:Slc5a4a'
ID |
587407 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a4a
|
Ensembl Gene |
ENSMUSG00000020229 |
Gene Name |
solute carrier family 5, member 4a |
Synonyms |
|
MMRRC Submission |
045638-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R7591 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75983285-76025099 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site |
DNA Base Change (assembly) |
T to C
at 75983501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020450]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 |
|
Meta Mutation Damage Score |
0.0798 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccne2 |
T |
C |
4: 11,201,393 (GRCm39) |
I307T |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,927,349 (GRCm39) |
C562* |
probably null |
Het |
Cldn11 |
A |
T |
3: 31,204,436 (GRCm39) |
E46D |
probably benign |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dbh |
A |
G |
2: 27,060,522 (GRCm39) |
T233A |
probably damaging |
Het |
Dennd2c |
T |
A |
3: 103,040,661 (GRCm39) |
Y309N |
possibly damaging |
Het |
Dnttip2 |
T |
A |
3: 122,070,117 (GRCm39) |
L444* |
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epop |
A |
T |
11: 97,519,158 (GRCm39) |
V317E |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,991,797 (GRCm39) |
T1695A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,803,472 (GRCm39) |
I421F |
possibly damaging |
Het |
Impa2 |
T |
C |
18: 67,451,480 (GRCm39) |
L258P |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,119,315 (GRCm39) |
R855W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,541 (GRCm39) |
T468A |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,372,711 (GRCm39) |
K33R |
probably damaging |
Het |
Lamb1 |
C |
A |
12: 31,376,647 (GRCm39) |
A1657E |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,393 (GRCm39) |
V387A |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,561,297 (GRCm39) |
T734A |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,895,477 (GRCm39) |
|
probably null |
Het |
Nutm2 |
A |
G |
13: 50,627,903 (GRCm39) |
I461M |
probably damaging |
Het |
Or14p1 |
T |
C |
13: 65,292,462 (GRCm39) |
F130L |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,222,220 (GRCm39) |
V210M |
probably benign |
Het |
Or4s2 |
A |
C |
2: 88,473,811 (GRCm39) |
K233N |
probably damaging |
Het |
Or5b112 |
A |
G |
19: 13,319,619 (GRCm39) |
S166G |
probably benign |
Het |
Pigo |
T |
C |
4: 43,025,093 (GRCm39) |
N2S |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,608 (GRCm39) |
I650L |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,342,262 (GRCm39) |
V20D |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,481 (GRCm39) |
I88L |
probably benign |
Het |
Rhobtb2 |
A |
G |
14: 70,037,190 (GRCm39) |
V78A |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,263,558 (GRCm39) |
V226A |
probably damaging |
Het |
Scrt1 |
C |
A |
15: 76,403,694 (GRCm39) |
G99C |
probably damaging |
Het |
Skint9 |
A |
T |
4: 112,248,147 (GRCm39) |
I199N |
probably damaging |
Het |
Smad3 |
C |
T |
9: 63,561,999 (GRCm39) |
W326* |
probably null |
Het |
Spata18 |
A |
T |
5: 73,829,759 (GRCm39) |
I305F |
|
Het |
Spata31h1 |
C |
A |
10: 82,128,046 (GRCm39) |
V1655F |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syne3 |
A |
G |
12: 104,906,863 (GRCm39) |
|
probably null |
Het |
Trim69 |
G |
A |
2: 121,998,454 (GRCm39) |
R142Q |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,691,755 (GRCm39) |
I191F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,510,223 (GRCm39) |
D535E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,420,317 (GRCm39) |
E742G |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,092 (GRCm39) |
Y603* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,835 (GRCm39) |
N68S |
probably 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 |
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 |
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'- TGAGGCTGATCATTAACTCAGGAC -3'
(R):5'- GCTGTGCTCAAATGATGCTTTG -3'
Sequencing Primer
(F):5'- TAAGAGGTGTCAATGCCTGCC -3'
(R):5'- CAAATGATGCTTTGCTTGGAGAATG -3'
|
Posted On |
2019-10-24 |