Incidental Mutation 'R0919:Slc44a5'
ID 81577
Institutional Source Beutler Lab
Gene Symbol Slc44a5
Ensembl Gene ENSMUSG00000028360
Gene Name solute carrier family 44, member 5
Synonyms LOC242259
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R0919 (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 153949223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 232 (Y232C)
Ref Sequence ENSEMBL: ENSMUSP00000087394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089948]
AlphaFold Q5RJI2
Predicted Effect probably damaging
Transcript: ENSMUST00000089948
AA Change: Y232C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: Y232C

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: ENSMUST00000200319
Meta Mutation Damage Score 0.6622 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably 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
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
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'- GCTGCGAAGTATGTCTGCATTTCTG -3'
(R):5'- GAAGTCAAACTATGCCCACCCTCTG -3'

Sequencing Primer
(F):5'- TGGCAGATGCTGTCTAAGACC -3'
(R):5'- TGAACCTTACAGTCTTATGGGC -3'
Posted On 2013-11-07