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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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