Incidental Mutation 'R4657:Slc44a5'
ID 352501
Institutional Source Beutler Lab
Gene Symbol Slc44a5
Ensembl Gene ENSMUSG00000028360
Gene Name solute carrier family 44, member 5
Synonyms LOC242259
MMRRC Submission 041917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4657 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 153679073-153977359 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153962221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 385 (T385A)
Ref Sequence ENSEMBL: ENSMUSP00000087394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089948]
AlphaFold Q5RJI2
Predicted Effect possibly damaging
Transcript: ENSMUST00000089948
AA Change: T385A

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: T385A

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 0.1389 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (105/107)
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,904,304 (GRCm39) V264E possibly damaging Het
Abcg1 T A 17: 31,327,408 (GRCm39) W368R probably benign Het
Acin1 A G 14: 54,880,504 (GRCm39) I476T possibly damaging Het
Acsm1 T A 7: 119,239,917 (GRCm39) I287N possibly damaging Het
Adgrv1 C T 13: 81,553,483 (GRCm39) V5464I probably benign Het
AI429214 T A 8: 37,461,545 (GRCm39) L231Q probably damaging Het
Akp3 A G 1: 87,053,556 (GRCm39) probably benign Het
Amy2b C T 3: 113,060,793 (GRCm39) noncoding transcript Het
Apoa5 A G 9: 46,181,170 (GRCm39) Q82R probably benign Het
Arhgap44 A G 11: 64,896,278 (GRCm39) probably null Het
Arhgef38 C A 3: 132,940,442 (GRCm39) G48V probably damaging Het
Bltp3a T A 17: 28,109,079 (GRCm39) F1099L probably benign Het
Bod1l G T 5: 41,975,955 (GRCm39) N1786K probably benign Het
Cav2 A T 6: 17,281,409 (GRCm39) D17V probably null Het
Ccdc148 G T 2: 58,891,900 (GRCm39) N238K probably benign Het
Ccin A T 4: 43,984,981 (GRCm39) I463F probably damaging Het
Cd8b1 C T 6: 71,306,758 (GRCm39) H162Y possibly damaging Het
Cdh16 T A 8: 105,341,858 (GRCm39) probably null Het
Cfap65 T A 1: 74,964,513 (GRCm39) probably benign Het
Clec4n T C 6: 123,209,155 (GRCm39) probably null Het
Cpne7 T A 8: 123,861,314 (GRCm39) *558R probably null Het
Cs A G 10: 128,189,006 (GRCm39) I172V probably benign Het
Cyp2ab1 A T 16: 20,131,822 (GRCm39) L306Q probably damaging Het
D16Ertd472e A T 16: 78,344,814 (GRCm39) V98E probably damaging Het
Dcaf15 A C 8: 84,829,467 (GRCm39) S92A probably damaging Het
Dkk3 T C 7: 111,748,253 (GRCm39) probably null Het
Dnah11 A T 12: 118,156,162 (GRCm39) C163S probably benign Het
Eda2r T A X: 96,385,239 (GRCm39) Q171L probably damaging Het
Eml4 A T 17: 83,758,377 (GRCm39) K397* probably null Het
Eml6 A T 11: 29,755,108 (GRCm39) I889N possibly damaging Het
Etaa1 A T 11: 17,896,964 (GRCm39) D384E possibly damaging Het
Fzr1 T A 10: 81,203,386 (GRCm39) probably null Het
Gm13889 G T 2: 93,786,921 (GRCm39) F61L probably damaging Het
Gm14149 A T 2: 151,072,684 (GRCm39) noncoding transcript Het
Gm5828 T A 1: 16,839,642 (GRCm39) noncoding transcript Het
Gm5866 G A 5: 52,740,262 (GRCm39) noncoding transcript Het
Gp2 T C 7: 119,056,391 (GRCm39) I27M probably benign Het
Gpr83 G A 9: 14,778,279 (GRCm39) probably null Het
Gucd1 T C 10: 75,346,959 (GRCm39) N97S probably benign Het
H2bc27 C T 11: 58,839,797 (GRCm39) P11L probably benign Het
H2-Q7 T A 17: 35,661,735 (GRCm39) V326E possibly damaging Het
Haao A T 17: 84,139,774 (GRCm39) D227E possibly damaging Het
Hipk3 C T 2: 104,264,104 (GRCm39) S819N probably benign Het
Hlcs A G 16: 94,063,557 (GRCm39) V501A probably benign Het
Hmcn1 A G 1: 150,500,301 (GRCm39) Y3964H probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ifi211 A G 1: 173,735,226 (GRCm39) F68L probably benign Het
Ift57 A G 16: 49,582,957 (GRCm39) probably null Het
Ighv5-12-4 A T 12: 113,725,887 (GRCm39) L112* probably null Het
Il1rl2 CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT 1: 40,366,470 (GRCm39) probably benign Het
Il36a T A 2: 24,114,416 (GRCm39) M97K possibly damaging Het
Itsn2 A G 12: 4,763,197 (GRCm39) *1686W probably null Het
Jkamp G T 12: 72,140,823 (GRCm39) V123F probably damaging Het
Kat7 C A 11: 95,168,424 (GRCm39) V411L probably damaging Het
Kcnj5 A G 9: 32,233,973 (GRCm39) V114A probably benign Het
Krtap5-4 T A 7: 141,857,491 (GRCm39) C54S unknown Het
Lats1 T A 10: 7,581,448 (GRCm39) N744K possibly damaging Het
Lpo T C 11: 87,705,173 (GRCm39) E387G probably damaging Het
Lrba T G 3: 86,644,471 (GRCm39) M388R probably damaging Het
Lrp2 C A 2: 69,297,337 (GRCm39) R3208L probably damaging Het
Mterf1b T A 5: 4,247,176 (GRCm39) C272* probably null Het
Myh15 A T 16: 48,992,421 (GRCm39) R1632* probably null Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo9a T C 9: 59,782,699 (GRCm39) probably null Het
Nelfa T G 5: 34,059,157 (GRCm39) S233R probably benign Het
Nr4a3 A T 4: 48,051,522 (GRCm39) E121V probably damaging Het
Obscn T A 11: 58,933,116 (GRCm39) E5406D probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or1j18 T A 2: 36,624,415 (GRCm39) Y27* probably null Het
Or7e177 A C 9: 20,211,919 (GRCm39) H142P probably damaging Het
Oxct2b T C 4: 123,010,926 (GRCm39) L282P probably damaging Het
Pappa G A 4: 65,233,033 (GRCm39) probably null Het
Pcdhb14 A G 18: 37,581,900 (GRCm39) I335M possibly damaging Het
Pcsk1 T A 13: 75,280,354 (GRCm39) D726E probably damaging Het
Pkhd1 T A 1: 20,434,391 (GRCm39) Q2349L possibly damaging Het
Pkhd1l1 G A 15: 44,410,743 (GRCm39) C2750Y probably damaging Het
Ppp2r3d A G 9: 124,476,821 (GRCm38) C26R unknown Het
Prex2 T A 1: 11,136,049 (GRCm39) I74N probably benign Het
Ptgir A G 7: 16,641,071 (GRCm39) D121G probably benign Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Ralbp1 T C 17: 66,159,686 (GRCm39) S526G probably null Het
Ric8b T C 10: 84,828,001 (GRCm39) Y442H probably damaging Het
Rpap1 C T 2: 119,605,487 (GRCm39) D385N probably benign Het
Sash1 T C 10: 8,601,424 (GRCm39) Y1177C probably damaging Het
Shroom1 T C 11: 53,356,415 (GRCm39) I363T possibly damaging Het
Slc26a9 T C 1: 131,680,876 (GRCm39) L95P probably damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slc7a1 T A 5: 148,289,209 (GRCm39) M13L probably benign Het
Snrpb2 A G 2: 142,912,893 (GRCm39) N172S possibly damaging Het
Spns1 G T 7: 125,973,474 (GRCm39) probably benign Het
Srsf6 T A 2: 162,775,347 (GRCm39) S86R probably benign Het
Stk25 A T 1: 93,553,378 (GRCm39) probably benign Het
Szt2 A T 4: 118,254,866 (GRCm39) C275S probably benign Het
Tcp10b T A 17: 13,292,504 (GRCm39) probably null Het
Tmem248 T A 5: 130,260,615 (GRCm39) L60H probably damaging Het
Trim27 T C 13: 21,367,930 (GRCm39) I182T probably damaging Het
Tspan10 A G 11: 120,335,324 (GRCm39) N145D probably damaging Het
Vps13d A G 4: 144,801,412 (GRCm39) F487S probably damaging Het
Wdr86 A T 5: 24,923,229 (GRCm39) D154E probably benign Het
Wfdc18 C A 11: 83,600,695 (GRCm39) A32D possibly damaging Het
Wrn A T 8: 33,826,019 (GRCm39) probably null Het
Zfp811 C A 17: 33,019,897 (GRCm39) E7* probably null 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
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'- AACCTAAGGCTTGCTTCTGC -3'
(R):5'- ATCTGTTCCTGAGCAGCAAG -3'

Sequencing Primer
(F):5'- GCTTCTGCTTCTTAACGGATAAAC -3'
(R):5'- TTCCTGAGCAGCAAGGTGGAC -3'
Posted On 2015-10-08