Incidental Mutation 'R7209:Slc45a1'
ID 568662
Institutional Source Beutler Lab
Gene Symbol Slc45a1
Ensembl Gene ENSMUSG00000039838
Gene Name solute carrier family 45, member 1
Synonyms Dnb5
MMRRC Submission 045338-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R7209 (G1)
Quality Score 143.008
Status Validated
Chromosome 4
Chromosomal Location 150713052-150736631 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 150719669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037827] [ENSMUST00000117997]
AlphaFold Q8BIV7
Predicted Effect probably null
Transcript: ENSMUST00000037827
SMART Domains Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
Pfam:MFS_2 86 310 7.3e-11 PFAM
Pfam:MFS_1 92 356 1.4e-12 PFAM
transmembrane domain 529 551 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 604 626 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 680 702 N/A INTRINSIC
transmembrane domain 712 734 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117997
SMART Domains Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
Pfam:MFS_2 87 307 1.6e-12 PFAM
Pfam:MFS_1 92 362 2.4e-12 PFAM
transmembrane domain 529 551 N/A INTRINSIC
transmembrane domain 575 597 N/A INTRINSIC
transmembrane domain 604 626 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,767,268 (GRCm39) Y61H probably damaging Het
Adgrb1 T G 15: 74,441,797 (GRCm39) V966G possibly damaging Het
Adh5 G A 3: 138,148,909 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,333,207 (GRCm39) V28A probably damaging Het
Apbb1 T A 7: 105,215,292 (GRCm39) I450F probably damaging Het
Arhgap23 C T 11: 97,366,911 (GRCm39) T1064I probably damaging Het
Arhgap23 G C 11: 97,383,273 (GRCm39) probably null Het
Atg4b A G 1: 93,702,955 (GRCm39) I128M probably damaging Het
Baat A T 4: 49,503,065 (GRCm39) I19N probably damaging Het
Bspry T G 4: 62,404,852 (GRCm39) I216S possibly damaging Het
Commd9 T A 2: 101,725,483 (GRCm39) S19T possibly damaging Het
Cr2 A G 1: 194,851,032 (GRCm39) C145R probably damaging Het
Cyp2c68 A G 19: 39,677,649 (GRCm39) L447P probably damaging Het
Depdc1b T C 13: 108,519,389 (GRCm39) M333T possibly damaging Het
Dhx9 T C 1: 153,340,369 (GRCm39) T710A possibly damaging Het
Dnah5 T C 15: 28,459,371 (GRCm39) V4530A possibly damaging Het
Dohh T A 10: 81,221,874 (GRCm39) H89Q probably damaging Het
Dop1b T A 16: 93,566,733 (GRCm39) N1171K probably benign Het
Dscam T C 16: 96,451,544 (GRCm39) probably null Het
Entpd5 T A 12: 84,443,702 (GRCm39) S14C probably benign Het
Eqtn G A 4: 94,813,806 (GRCm39) S125F probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fgf18 A T 11: 33,084,315 (GRCm39) D46E probably benign Het
Foxa1 T A 12: 57,590,077 (GRCm39) M48L probably benign Het
Gabrg1 C A 5: 70,911,513 (GRCm39) C417F probably damaging Het
Glrp1 T A 1: 88,431,004 (GRCm39) Q122L unknown Het
Gm5622 A G 14: 51,893,363 (GRCm39) I97V possibly damaging Het
Gusb A G 5: 130,027,387 (GRCm39) V306A probably benign Het
Hars1 A G 18: 36,906,593 (GRCm39) S126P probably benign Het
Herc1 A G 9: 66,292,314 (GRCm39) S356G possibly damaging Het
Hydin C A 8: 111,216,424 (GRCm39) Y1336* probably null Het
Iftap T C 2: 101,396,727 (GRCm39) *217W probably null Het
Kin T C 2: 10,096,564 (GRCm39) Y138H possibly damaging Het
Lypd2 C T 15: 74,604,266 (GRCm39) V101M probably benign Het
Madcam1 A T 10: 79,500,892 (GRCm39) T70S possibly damaging Het
Man1a2 A G 3: 100,554,395 (GRCm39) C112R unknown Het
Mia2 T A 12: 59,201,176 (GRCm39) V198E possibly damaging Het
Mpdz C T 4: 81,225,114 (GRCm39) V1438M possibly damaging Het
Mtif2 G A 11: 29,479,996 (GRCm39) V21M probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nln G A 13: 104,209,406 (GRCm39) Q56* probably null Het
Nlrp4b T C 7: 10,444,297 (GRCm39) V82A probably benign Het
Obscn C A 11: 58,975,933 (GRCm39) E2065* probably null Het
Or10g1 A G 14: 52,647,550 (GRCm39) C260R possibly damaging Het
Pilrb2 C T 5: 137,869,126 (GRCm39) probably null Het
Plekhh1 C A 12: 79,097,150 (GRCm39) D99E probably benign Het
Polr2b T A 5: 77,491,026 (GRCm39) F956I probably damaging Het
Ppp3cc A G 14: 70,504,947 (GRCm39) F20L probably benign Het
Prmt9 T C 8: 78,291,627 (GRCm39) V333A probably benign Het
Psd4 T C 2: 24,287,357 (GRCm39) S430P probably damaging Het
Relch C A 1: 105,678,082 (GRCm39) P1136T probably damaging Het
Rrp12 A C 19: 41,861,388 (GRCm39) V973G possibly damaging Het
Rxfp2 A G 5: 149,976,563 (GRCm39) probably null Het
S100a6 G A 3: 90,521,095 (GRCm39) A8T possibly damaging Het
Sgsm2 C A 11: 74,745,151 (GRCm39) G717V probably damaging Het
Sipa1 A G 19: 5,705,003 (GRCm39) Y531H probably damaging Het
Spopfm3 A T 3: 94,106,012 (GRCm39) Q110L probably benign Het
Srbd1 C A 17: 86,308,948 (GRCm39) L743F probably damaging Het
Taar2 A T 10: 23,816,597 (GRCm39) I46F possibly damaging Het
Tmem241 A T 18: 12,237,229 (GRCm39) V69D probably damaging Het
Tns1 T C 1: 73,993,074 (GRCm39) S535G possibly damaging Het
Trgc3 A G 13: 19,445,334 (GRCm39) N94S probably benign Het
Ttc34 C A 4: 154,923,585 (GRCm39) P98Q probably damaging Het
Ubr1 C A 2: 120,693,246 (GRCm39) R1720L probably benign Het
Ubr3 T A 2: 69,846,478 (GRCm39) D1597E probably benign Het
Unc79 T C 12: 103,091,883 (GRCm39) M1930T probably benign Het
Vmn2r100 A T 17: 19,751,576 (GRCm39) I603F not run Het
Vps26b A T 9: 26,921,288 (GRCm39) S304T probably benign Het
Zfp952 A T 17: 33,222,444 (GRCm39) T308S possibly damaging Het
Other mutations in Slc45a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Slc45a1 APN 4 150,728,426 (GRCm39) missense probably damaging 1.00
IGL02009:Slc45a1 APN 4 150,722,447 (GRCm39) missense probably damaging 1.00
IGL02251:Slc45a1 APN 4 150,723,176 (GRCm39) splice site probably benign
IGL02752:Slc45a1 APN 4 150,722,478 (GRCm39) missense probably benign 0.01
IGL02881:Slc45a1 APN 4 150,722,987 (GRCm39) missense probably benign 0.36
PIT4508001:Slc45a1 UTSW 4 150,722,892 (GRCm39) missense probably benign 0.00
R0017:Slc45a1 UTSW 4 150,714,023 (GRCm39) missense possibly damaging 0.56
R0017:Slc45a1 UTSW 4 150,714,023 (GRCm39) missense possibly damaging 0.56
R0449:Slc45a1 UTSW 4 150,727,762 (GRCm39) missense probably damaging 1.00
R0756:Slc45a1 UTSW 4 150,727,054 (GRCm39) frame shift probably null
R1435:Slc45a1 UTSW 4 150,728,505 (GRCm39) missense probably damaging 1.00
R1837:Slc45a1 UTSW 4 150,722,916 (GRCm39) missense probably benign 0.00
R1943:Slc45a1 UTSW 4 150,728,734 (GRCm39) missense probably benign 0.02
R2186:Slc45a1 UTSW 4 150,722,708 (GRCm39) missense probably benign 0.01
R3766:Slc45a1 UTSW 4 150,722,517 (GRCm39) missense probably damaging 1.00
R4689:Slc45a1 UTSW 4 150,722,996 (GRCm39) missense probably benign 0.31
R4697:Slc45a1 UTSW 4 150,722,741 (GRCm39) missense probably damaging 1.00
R4709:Slc45a1 UTSW 4 150,722,697 (GRCm39) missense probably benign 0.04
R5253:Slc45a1 UTSW 4 150,722,727 (GRCm39) missense probably damaging 0.98
R5387:Slc45a1 UTSW 4 150,728,366 (GRCm39) intron probably benign
R5914:Slc45a1 UTSW 4 150,713,997 (GRCm39) missense possibly damaging 0.57
R6259:Slc45a1 UTSW 4 150,722,817 (GRCm39) missense possibly damaging 0.63
R6290:Slc45a1 UTSW 4 150,727,096 (GRCm39) missense probably damaging 1.00
R6961:Slc45a1 UTSW 4 150,714,110 (GRCm39) missense probably damaging 0.99
R6981:Slc45a1 UTSW 4 150,723,051 (GRCm39) missense possibly damaging 0.48
R7099:Slc45a1 UTSW 4 150,714,030 (GRCm39) missense probably benign 0.00
R7601:Slc45a1 UTSW 4 150,713,994 (GRCm39) missense possibly damaging 0.78
R7615:Slc45a1 UTSW 4 150,723,002 (GRCm39) missense probably benign 0.01
R7730:Slc45a1 UTSW 4 150,715,397 (GRCm39) missense probably damaging 1.00
R7750:Slc45a1 UTSW 4 150,728,498 (GRCm39) missense probably damaging 1.00
R8022:Slc45a1 UTSW 4 150,722,766 (GRCm39) missense possibly damaging 0.71
R8768:Slc45a1 UTSW 4 150,714,206 (GRCm39) missense probably damaging 0.98
R9006:Slc45a1 UTSW 4 150,722,731 (GRCm39) missense probably damaging 1.00
R9258:Slc45a1 UTSW 4 150,723,071 (GRCm39) missense possibly damaging 0.88
R9388:Slc45a1 UTSW 4 150,727,067 (GRCm39) missense probably damaging 1.00
R9768:Slc45a1 UTSW 4 150,722,982 (GRCm39) missense probably benign
X0026:Slc45a1 UTSW 4 150,728,507 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCGACCTGTAACAGAGC -3'
(R):5'- AAAGCTGACCTGCATGTCAC -3'

Sequencing Primer
(F):5'- GACCTGTAACAGAGCCACAG -3'
(R):5'- GCTGACCTGCATGTCACATGTG -3'
Posted On 2019-09-06