Incidental Mutation 'R4163:Slc44a5'
ID 321600
Institutional Source Beutler Lab
Gene Symbol Slc44a5
Ensembl Gene ENSMUSG00000028360
Gene Name solute carrier family 44, member 5
Synonyms LOC242259
MMRRC Submission 041006-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4163 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 153679073-153977359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153967010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 565 (R565S)
Ref Sequence ENSEMBL: ENSMUSP00000087394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089948]
AlphaFold Q5RJI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000089948
AA Change: R565S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: R565S

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
transmembrane domain 263 285 N/A INTRINSIC
Pfam:Choline_transpo 323 683 6.3e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144677
Meta Mutation Damage Score 0.5382 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,948,531 (GRCm39) noncoding transcript Het
Abca8a C T 11: 109,941,808 (GRCm39) D1154N probably benign Het
Adgrf4 A G 17: 42,978,477 (GRCm39) F289L probably benign Het
Alkbh2 A G 5: 114,265,613 (GRCm39) L63S probably damaging Het
Atp13a4 A T 16: 29,360,068 (GRCm39) N19K possibly damaging Het
Birc6 T A 17: 74,933,975 (GRCm39) Y2544N probably damaging Het
Bnip5 T C 17: 29,118,503 (GRCm39) Y643C probably benign Het
Bpifa3 A G 2: 153,977,516 (GRCm39) N118S probably damaging Het
Chst10 T A 1: 38,910,904 (GRCm39) M87L probably benign Het
Cnot9 C T 1: 74,568,006 (GRCm39) P298L probably damaging Het
Cops5 T C 1: 10,100,912 (GRCm39) Y228C probably damaging Het
Dcaf8 T G 1: 172,020,137 (GRCm39) L492R probably damaging Het
Dis3l2 A G 1: 86,748,959 (GRCm39) S128G probably benign Het
Dock1 A G 7: 134,346,051 (GRCm39) R198G possibly damaging Het
Elovl7 T A 13: 108,403,904 (GRCm39) M82K possibly damaging Het
Entrep1 G A 19: 23,952,993 (GRCm39) A439V probably damaging Het
Entrep1 C T 19: 23,953,002 (GRCm39) S436N probably damaging Het
Fcgr2b T C 1: 170,791,016 (GRCm39) D259G possibly damaging Het
Flnb A T 14: 7,915,374 (GRCm38) I1502F possibly damaging Het
Frk C T 10: 34,467,868 (GRCm39) P294L probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm128 C A 3: 95,147,802 (GRCm39) R164L probably benign Het
Gm2223 C T X: 32,943,247 (GRCm39) noncoding transcript Het
Hexd C A 11: 121,111,975 (GRCm39) A423E probably benign Het
Itgax G T 7: 127,743,872 (GRCm39) V878F probably benign Het
Kank2 A T 9: 21,706,864 (GRCm39) D51E probably damaging Het
Kcna4 G C 2: 107,126,151 (GRCm39) W295S probably damaging Het
Mfsd12 A G 10: 81,196,931 (GRCm39) probably null Het
Mis12 A G 11: 70,916,482 (GRCm39) T172A probably benign Het
Myo10 T A 15: 25,726,501 (GRCm39) probably null Het
Myo18a G T 11: 77,720,534 (GRCm39) R1103L possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntrk2 T C 13: 59,008,054 (GRCm39) V272A probably damaging Het
Or2ag17 A T 7: 106,389,486 (GRCm39) C241S probably damaging Het
Or5p64 A T 7: 107,855,039 (GRCm39) I102N probably benign Het
Or7e165 A T 9: 19,695,086 (GRCm39) Y219F possibly damaging Het
Pcdh20 C T 14: 88,705,615 (GRCm39) D562N probably damaging Het
Prep T C 10: 44,943,436 (GRCm39) F4L probably benign Het
Prep G T 10: 44,943,458 (GRCm39) R11L possibly damaging Het
Ptgs1 C T 2: 36,141,346 (GRCm39) R598C possibly damaging Het
Rasgrp1 T C 2: 117,113,135 (GRCm39) D759G probably benign Het
Setd5 T C 6: 113,096,545 (GRCm39) S584P probably benign Het
Shank3 A G 15: 89,433,797 (GRCm39) D1514G probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc7a5 A G 8: 122,615,139 (GRCm39) L236S probably benign Het
Slfn3 A T 11: 83,103,596 (GRCm39) I156F probably damaging Het
Spout1 C T 2: 30,067,589 (GRCm39) probably benign Het
Trim72 T C 7: 127,607,080 (GRCm39) V203A probably benign Het
Vrk2 T A 11: 26,497,915 (GRCm39) I90L probably benign Het
Zc3h12c A T 9: 52,026,999 (GRCm39) Y788N probably damaging Het
Zfp831 A G 2: 174,485,822 (GRCm39) T166A possibly damaging Het
Other mutations in Slc44a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Slc44a5 APN 3 153,968,576 (GRCm39) missense probably damaging 1.00
IGL02187:Slc44a5 APN 3 153,968,554 (GRCm39) missense probably benign 0.00
IGL02219:Slc44a5 APN 3 153,944,796 (GRCm39) missense possibly damaging 0.76
IGL02220:Slc44a5 APN 3 153,956,608 (GRCm39) missense possibly damaging 0.94
IGL02314:Slc44a5 APN 3 153,962,156 (GRCm39) missense probably damaging 1.00
IGL02471:Slc44a5 APN 3 153,962,213 (GRCm39) missense probably damaging 1.00
IGL02869:Slc44a5 APN 3 153,956,651 (GRCm39) missense probably damaging 0.97
IGL03117:Slc44a5 APN 3 153,956,714 (GRCm39) missense probably benign 0.15
IGL03144:Slc44a5 APN 3 153,949,177 (GRCm39) missense possibly damaging 0.78
PIT4486001:Slc44a5 UTSW 3 153,964,659 (GRCm39) missense possibly damaging 0.50
R0026:Slc44a5 UTSW 3 153,945,907 (GRCm39) splice site probably benign
R0190:Slc44a5 UTSW 3 153,944,755 (GRCm39) missense probably null 0.00
R0306:Slc44a5 UTSW 3 153,975,638 (GRCm39) missense probably damaging 1.00
R0591:Slc44a5 UTSW 3 153,939,782 (GRCm39) splice site probably benign
R0744:Slc44a5 UTSW 3 153,971,111 (GRCm39) missense probably damaging 1.00
R0833:Slc44a5 UTSW 3 153,971,111 (GRCm39) missense probably damaging 1.00
R0919:Slc44a5 UTSW 3 153,949,223 (GRCm39) missense probably damaging 1.00
R1170:Slc44a5 UTSW 3 153,963,357 (GRCm39) splice site probably null
R1370:Slc44a5 UTSW 3 153,948,796 (GRCm39) missense probably benign 0.26
R1613:Slc44a5 UTSW 3 153,963,351 (GRCm39) splice site probably null
R1713:Slc44a5 UTSW 3 153,944,743 (GRCm39) missense probably damaging 0.97
R1999:Slc44a5 UTSW 3 153,964,130 (GRCm39) missense possibly damaging 0.61
R2143:Slc44a5 UTSW 3 153,964,086 (GRCm39) missense probably benign 0.01
R2293:Slc44a5 UTSW 3 153,945,934 (GRCm39) missense probably benign 0.01
R2367:Slc44a5 UTSW 3 153,953,446 (GRCm39) missense possibly damaging 0.94
R3842:Slc44a5 UTSW 3 153,967,031 (GRCm39) splice site probably benign
R3953:Slc44a5 UTSW 3 153,877,209 (GRCm39) missense probably benign 0.03
R4509:Slc44a5 UTSW 3 153,939,710 (GRCm39) missense probably damaging 1.00
R4657:Slc44a5 UTSW 3 153,962,221 (GRCm39) missense possibly damaging 0.81
R4936:Slc44a5 UTSW 3 153,959,353 (GRCm39) missense probably damaging 1.00
R4937:Slc44a5 UTSW 3 153,949,252 (GRCm39) critical splice donor site probably null
R5083:Slc44a5 UTSW 3 153,953,424 (GRCm39) missense probably benign 0.31
R5257:Slc44a5 UTSW 3 153,948,760 (GRCm39) missense probably damaging 1.00
R5580:Slc44a5 UTSW 3 153,966,922 (GRCm39) missense probably benign 0.03
R5586:Slc44a5 UTSW 3 153,975,802 (GRCm39) utr 3 prime probably benign
R5856:Slc44a5 UTSW 3 153,964,029 (GRCm39) missense possibly damaging 0.78
R5894:Slc44a5 UTSW 3 153,962,210 (GRCm39) missense probably damaging 1.00
R6228:Slc44a5 UTSW 3 153,944,800 (GRCm39) missense probably benign 0.00
R6248:Slc44a5 UTSW 3 153,969,678 (GRCm39) missense possibly damaging 0.93
R6413:Slc44a5 UTSW 3 153,963,387 (GRCm39) missense probably benign 0.21
R6454:Slc44a5 UTSW 3 153,948,796 (GRCm39) missense probably benign 0.26
R6594:Slc44a5 UTSW 3 153,964,660 (GRCm39) missense possibly damaging 0.85
R6761:Slc44a5 UTSW 3 153,945,714 (GRCm39) splice site probably null
R6931:Slc44a5 UTSW 3 153,964,143 (GRCm39) missense probably benign 0.03
R7027:Slc44a5 UTSW 3 153,959,356 (GRCm39) missense probably benign 0.00
R7566:Slc44a5 UTSW 3 153,975,626 (GRCm39) missense probably damaging 1.00
R7688:Slc44a5 UTSW 3 153,679,437 (GRCm39) critical splice donor site probably null
R8011:Slc44a5 UTSW 3 153,953,447 (GRCm39) missense possibly damaging 0.71
R8085:Slc44a5 UTSW 3 153,928,414 (GRCm39) missense probably damaging 1.00
R8460:Slc44a5 UTSW 3 153,975,667 (GRCm39) missense probably benign 0.00
R8765:Slc44a5 UTSW 3 153,968,561 (GRCm39) missense probably damaging 0.99
R9154:Slc44a5 UTSW 3 153,953,373 (GRCm39) missense probably benign 0.08
R9291:Slc44a5 UTSW 3 153,962,218 (GRCm39) missense possibly damaging 0.82
R9328:Slc44a5 UTSW 3 153,964,678 (GRCm39) missense probably benign 0.37
R9647:Slc44a5 UTSW 3 153,953,370 (GRCm39) missense possibly damaging 0.89
R9666:Slc44a5 UTSW 3 153,945,926 (GRCm39) missense probably benign 0.03
R9695:Slc44a5 UTSW 3 153,956,588 (GRCm39) missense probably damaging 0.99
R9758:Slc44a5 UTSW 3 153,959,322 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCTGATGTCATTGAGTCTGAAG -3'
(R):5'- GAAAAGTGCAGCCCTGATTG -3'

Sequencing Primer
(F):5'- GGTTTTACTGCTGTGAACAGACACC -3'
(R):5'- AAAGTGCAGCCCTGATTGATGTG -3'
Posted On 2015-06-12