Incidental Mutation 'R6761:Slc44a5'
ID 543628
Institutional Source Beutler Lab
Gene Symbol Slc44a5
Ensembl Gene ENSMUSG00000028360
Gene Name solute carrier family 44, member 5
Synonyms LOC242259
MMRRC Submission 044877-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R6761 (G1)
Quality Score 55.0072
Status Validated
Chromosome 3
Chromosomal Location 153679073-153977359 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 153945714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000087394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089948]
AlphaFold Q5RJI2
Predicted Effect probably null
Transcript: ENSMUST00000089948
SMART Domains Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.5%
Validation Efficiency 97% (34/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Actr3b C T 5: 26,030,137 (GRCm39) S67F probably damaging Het
Ap3m1 T C 14: 21,088,096 (GRCm39) M107V probably benign Het
Ccdc27 C T 4: 154,122,155 (GRCm39) G241D unknown Het
Cit T G 5: 116,046,734 (GRCm39) D382E probably damaging Het
Clec3b G T 9: 122,986,004 (GRCm39) G134V probably damaging Het
Cntnap2 T A 6: 47,026,307 (GRCm39) H44Q probably benign Het
Dst T C 1: 34,253,631 (GRCm39) S4300P probably damaging Het
Ebna1bp2 C T 4: 118,480,558 (GRCm39) R134* probably null Het
Efcab14 T C 4: 115,596,024 (GRCm39) S57P probably damaging Het
Exosc2 T C 2: 31,560,875 (GRCm39) probably null Het
Hfm1 T C 5: 107,043,145 (GRCm39) T630A probably damaging Het
Hkdc1 A T 10: 62,244,477 (GRCm39) I203N possibly damaging Het
Hltf T A 3: 20,137,996 (GRCm39) probably null Het
Igkv3-2 G T 6: 70,675,501 (GRCm39) probably benign Het
Mslnl A G 17: 25,965,047 (GRCm39) D471G probably damaging Het
Msmo1 A G 8: 65,172,061 (GRCm39) Y281H probably benign Het
Nid1 A G 13: 13,656,620 (GRCm39) T584A probably benign Het
Olfr908 A G 9: 38,427,561 (GRCm39) T78A probably damaging Het
Or52a24 C T 7: 103,381,691 (GRCm39) A186V probably damaging Het
Otoa G A 7: 120,721,173 (GRCm39) G396D probably damaging Het
Prss45 G T 9: 110,669,487 (GRCm39) A197S probably damaging Het
Prxl2a T A 14: 40,716,578 (GRCm39) H198L probably damaging Het
Rpap2 T A 5: 107,768,104 (GRCm39) I314N probably benign Het
Sash1 A G 10: 8,620,286 (GRCm39) M458T probably damaging Het
Sorbs2 T C 8: 46,225,651 (GRCm39) S254P probably damaging Het
Sycp2 T C 2: 178,016,144 (GRCm39) probably null Het
Tedc1 A G 12: 113,125,334 (GRCm39) D252G probably damaging Het
Uty T C Y: 1,186,790 (GRCm39) H145R probably damaging Homo
Vmn1r9 A G 6: 57,048,291 (GRCm39) Y122C probably benign Het
Wdfy4 T A 14: 32,817,908 (GRCm39) N1491Y possibly damaging Het
Wdr37 T C 13: 8,899,684 (GRCm39) T140A probably benign 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
R4163:Slc44a5 UTSW 3 153,967,010 (GRCm39) missense possibly damaging 0.94
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
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'- AATGTCTAAGTCCACCCTTACCTAG -3'
(R):5'- ATTTCAAAGCCAGCAATGACTG -3'

Sequencing Primer
(F):5'- GTCCACCCTTACCTAGGTTAAAC -3'
(R):5'- CTGCCAGTGACTGTAAGA -3'
Posted On 2019-04-08