Incidental Mutation 'R4974:Slc45a4'
ID 382527
Institutional Source Beutler Lab
Gene Symbol Slc45a4
Ensembl Gene ENSMUSG00000079020
Gene Name solute carrier family 45, member 4
Synonyms 9330175B01Rik
MMRRC Submission 042569-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4974 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 73449273-73517611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73456299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 635 (M635K)
Ref Sequence ENSEMBL: ENSMUSP00000054651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054266] [ENSMUST00000076224] [ENSMUST00000132607] [ENSMUST00000151288]
AlphaFold Q0P5V9
Predicted Effect probably damaging
Transcript: ENSMUST00000054266
AA Change: M635K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054651
Gene: ENSMUSG00000079020
AA Change: M635K

DomainStartEndE-ValueType
transmembrane domain 61 83 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
low complexity region 157 169 N/A INTRINSIC
low complexity region 213 225 N/A INTRINSIC
transmembrane domain 240 262 N/A INTRINSIC
low complexity region 488 499 N/A INTRINSIC
low complexity region 501 518 N/A INTRINSIC
transmembrane domain 533 555 N/A INTRINSIC
transmembrane domain 585 604 N/A INTRINSIC
transmembrane domain 617 639 N/A INTRINSIC
transmembrane domain 643 665 N/A INTRINSIC
transmembrane domain 685 707 N/A INTRINSIC
transmembrane domain 717 739 N/A INTRINSIC
low complexity region 754 770 N/A INTRINSIC
low complexity region 775 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076224
AA Change: M627K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000075577
Gene: ENSMUSG00000079020
AA Change: M627K

DomainStartEndE-ValueType
Pfam:MFS_2 52 266 1.6e-9 PFAM
low complexity region 480 491 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
transmembrane domain 525 547 N/A INTRINSIC
transmembrane domain 577 596 N/A INTRINSIC
transmembrane domain 609 631 N/A INTRINSIC
transmembrane domain 635 657 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
transmembrane domain 709 731 N/A INTRINSIC
low complexity region 746 762 N/A INTRINSIC
low complexity region 767 778 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132607
AA Change: M433K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000115827
Gene: ENSMUSG00000079020
AA Change: M433K

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
low complexity region 286 297 N/A INTRINSIC
low complexity region 299 316 N/A INTRINSIC
transmembrane domain 331 353 N/A INTRINSIC
transmembrane domain 383 402 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
transmembrane domain 483 505 N/A INTRINSIC
transmembrane domain 515 537 N/A INTRINSIC
low complexity region 552 568 N/A INTRINSIC
low complexity region 573 584 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000144936
AA Change: M562K
SMART Domains Protein: ENSMUSP00000122825
Gene: ENSMUSG00000079020
AA Change: M562K

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 85 97 N/A INTRINSIC
low complexity region 141 153 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
low complexity region 416 427 N/A INTRINSIC
low complexity region 429 446 N/A INTRINSIC
transmembrane domain 461 483 N/A INTRINSIC
transmembrane domain 513 532 N/A INTRINSIC
transmembrane domain 545 567 N/A INTRINSIC
transmembrane domain 571 593 N/A INTRINSIC
transmembrane domain 613 635 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
low complexity region 682 698 N/A INTRINSIC
low complexity region 703 714 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151288
AA Change: M627K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121775
Gene: ENSMUSG00000079020
AA Change: M627K

DomainStartEndE-ValueType
Pfam:MFS_2 52 266 1.6e-9 PFAM
low complexity region 480 491 N/A INTRINSIC
low complexity region 493 510 N/A INTRINSIC
transmembrane domain 525 547 N/A INTRINSIC
transmembrane domain 577 596 N/A INTRINSIC
transmembrane domain 609 631 N/A INTRINSIC
transmembrane domain 635 657 N/A INTRINSIC
transmembrane domain 677 699 N/A INTRINSIC
transmembrane domain 709 731 N/A INTRINSIC
low complexity region 746 762 N/A INTRINSIC
low complexity region 767 778 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152558
SMART Domains Protein: ENSMUSP00000114790
Gene: ENSMUSG00000079020

DomainStartEndE-ValueType
low complexity region 35 47 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
transmembrane domain 112 131 N/A INTRINSIC
Meta Mutation Damage Score 0.3161 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency 97% (94/97)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik C T 14: 55,797,574 (GRCm39) probably benign Het
Acsf2 A C 11: 94,460,155 (GRCm39) M399R possibly damaging Het
Adra2c C A 5: 35,438,268 (GRCm39) R347S probably benign Het
Akap9 A G 5: 4,011,466 (GRCm39) K723R possibly damaging Het
Anxa9 A C 3: 95,215,324 (GRCm39) probably benign Het
Aqr T C 2: 113,943,832 (GRCm39) H1102R probably damaging Het
Armh3 A T 19: 45,808,726 (GRCm39) F655Y probably damaging Het
Arrdc2 A G 8: 71,290,162 (GRCm39) V173A probably benign Het
Aspm T C 1: 139,405,748 (GRCm39) V1545A probably benign Het
Bbs5 C T 2: 69,477,578 (GRCm39) probably benign Het
Bnip2 A G 9: 69,910,716 (GRCm39) T255A possibly damaging Het
Cacna1b T C 2: 24,538,535 (GRCm39) T1531A probably damaging Het
Cast T C 13: 74,955,942 (GRCm39) K9R probably benign Het
Cfap46 A T 7: 139,187,104 (GRCm39) probably null Het
Cfap57 G T 4: 118,450,251 (GRCm39) L624M probably damaging Het
Cyp2c39 A T 19: 39,552,323 (GRCm39) M339L probably benign Het
Dcst1 T A 3: 89,265,110 (GRCm39) T247S probably benign Het
Dnajc18 T A 18: 35,816,372 (GRCm39) I189F possibly damaging Het
Eef2kmt T C 16: 5,066,876 (GRCm39) T126A probably benign Het
Epha2 A G 4: 141,049,016 (GRCm39) E624G probably damaging Het
Erbb3 G A 10: 128,408,317 (GRCm39) H866Y probably benign Het
F13a1 C T 13: 37,100,837 (GRCm39) probably null Het
Fgd3 T A 13: 49,432,078 (GRCm39) N392I probably damaging Het
Fgf7 A T 2: 125,930,160 (GRCm39) M98L probably benign Het
G2e3 T A 12: 51,415,922 (GRCm39) S553T probably benign Het
Glipr1 C A 10: 111,829,411 (GRCm39) E117* probably null Het
Gm11060 A T 2: 104,924,128 (GRCm39) probably benign Het
Gm4787 A G 12: 81,424,403 (GRCm39) I585T probably damaging Het
Gm6055 A T 14: 48,316,915 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gpt2 T A 8: 86,246,068 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,386,685 (GRCm39) Y345* probably null Het
Hmcn1 T A 1: 150,695,200 (GRCm39) T235S probably benign Het
Igkv5-48 A G 6: 69,703,738 (GRCm39) Y56H possibly damaging Het
Il17re C T 6: 113,446,530 (GRCm39) T427I probably benign Het
Itpr3 A T 17: 27,302,582 (GRCm39) D80V probably damaging Het
Kif21a G T 15: 90,833,213 (GRCm39) H1317N probably benign Het
Kif28 T C 1: 179,526,209 (GRCm39) K144E probably damaging Het
Kif4-ps A C 12: 101,113,330 (GRCm39) noncoding transcript Het
Klk1b11 C T 7: 43,427,160 (GRCm39) T148I probably damaging Het
Klkb1 T A 8: 45,739,995 (GRCm39) H99L probably damaging Het
Kpna6 A C 4: 129,550,198 (GRCm39) probably null Het
Lama3 G T 18: 12,685,883 (GRCm39) K1132N probably damaging Het
Lcp1 T A 14: 75,445,911 (GRCm39) L264* probably null Het
Map2 T C 1: 66,452,664 (GRCm39) V360A probably benign Het
Med13 A T 11: 86,189,673 (GRCm39) S1079T probably damaging Het
Mettl13 A G 1: 162,364,789 (GRCm39) M162T probably damaging Het
Mppe1 T G 18: 67,361,133 (GRCm39) E208A probably benign Het
Msantd2 A C 9: 37,400,675 (GRCm39) K19T possibly damaging Het
Mylk3 A G 8: 86,091,412 (GRCm39) V131A probably damaging Het
Myocd A T 11: 65,074,299 (GRCm39) S609T possibly damaging Het
Ncbp3 G A 11: 72,944,355 (GRCm39) probably null Het
Neb T A 2: 52,136,871 (GRCm39) L3203F probably damaging Het
Notch2 C A 3: 98,046,949 (GRCm39) T1756K probably benign Het
Nphp4 A T 4: 152,622,250 (GRCm39) R544W probably damaging Het
Or3a1c A T 11: 74,046,745 (GRCm39) Y255F probably benign Het
Or4p18 T G 2: 88,232,756 (GRCm39) H174P probably damaging Het
Or5c1 A T 2: 37,222,578 (GRCm39) D273V probably damaging Het
Parp4 T A 14: 56,827,355 (GRCm39) V163E possibly damaging Het
Pcdhgb1 C A 18: 37,815,425 (GRCm39) Q639K probably benign Het
Pcnx2 A G 8: 126,577,869 (GRCm39) V936A probably benign Het
Pcsk7 T A 9: 45,830,160 (GRCm39) M418K probably damaging Het
Pglyrp4 T C 3: 90,640,314 (GRCm39) I188T probably benign Het
Pgs1 A G 11: 117,896,345 (GRCm39) R339G probably benign Het
Pik3r3 A G 4: 116,143,388 (GRCm39) I294V probably benign Het
Pik3r6 A G 11: 68,430,771 (GRCm39) D520G probably damaging Het
Pkdrej A G 15: 85,704,610 (GRCm39) V442A probably benign Het
Ppfibp1 T A 6: 146,931,917 (GRCm39) probably benign Het
Ppp3ca C A 3: 136,640,810 (GRCm39) Q454K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prl4a1 A T 13: 28,207,308 (GRCm39) Y194F possibly damaging Het
Ptpn21 G T 12: 98,646,362 (GRCm39) T1032K probably damaging Het
Ptprh A T 7: 4,554,006 (GRCm39) probably null Het
Ptprm T A 17: 66,985,062 (GRCm39) R1447S probably benign Het
Pxk T A 14: 8,140,734 (GRCm38) D236E probably damaging Het
Qars1 T C 9: 108,386,130 (GRCm39) F107S probably damaging Het
Rbbp6 A G 7: 122,599,031 (GRCm39) probably benign Het
Rptor A T 11: 119,712,466 (GRCm39) probably benign Het
Rtn4 T A 11: 29,690,994 (GRCm39) M1095K probably damaging Het
Serpinb3b T A 1: 107,082,445 (GRCm39) H273L probably benign Het
Sgce G A 6: 4,689,630 (GRCm39) T401M probably benign Het
Slc12a6 C T 2: 112,188,870 (GRCm39) R1083W probably damaging Het
Slc6a1 T A 6: 114,284,662 (GRCm39) V240D probably damaging Het
Snx9 G A 17: 5,952,794 (GRCm39) probably null Het
Spred3 A G 7: 28,867,249 (GRCm39) V49A probably damaging Het
Tars1 A G 15: 11,390,477 (GRCm39) F334S probably damaging Het
Tdpoz1 A G 3: 93,578,454 (GRCm39) V110A probably benign Het
Tfrc T G 16: 32,437,097 (GRCm39) V252G probably damaging Het
Tm6sf2 T C 8: 70,528,128 (GRCm39) probably benign Het
Txlnb T C 10: 17,714,717 (GRCm39) V383A probably damaging Het
Utp20 C A 10: 88,652,811 (GRCm39) V368L probably benign Het
Vmn2r12 A T 5: 109,239,372 (GRCm39) V397E probably damaging Het
Zdhhc12 G A 2: 29,981,538 (GRCm39) R175W probably damaging Het
Zfyve9 A G 4: 108,538,097 (GRCm39) probably null Het
Other mutations in Slc45a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Slc45a4 APN 15 73,459,504 (GRCm39) missense probably damaging 1.00
IGL02506:Slc45a4 APN 15 73,453,687 (GRCm39) missense probably benign 0.00
IGL02642:Slc45a4 APN 15 73,458,664 (GRCm39) missense probably benign
IGL03195:Slc45a4 APN 15 73,456,272 (GRCm39) missense possibly damaging 0.89
nosey UTSW 15 73,457,953 (GRCm39) missense probably damaging 1.00
Undefined UTSW 15 73,456,299 (GRCm39) missense probably damaging 1.00
R0048:Slc45a4 UTSW 15 73,477,285 (GRCm39) splice site probably benign
R0189:Slc45a4 UTSW 15 73,453,763 (GRCm39) missense probably benign 0.00
R0240:Slc45a4 UTSW 15 73,453,755 (GRCm39) missense probably benign 0.02
R0240:Slc45a4 UTSW 15 73,453,755 (GRCm39) missense probably benign 0.02
R0828:Slc45a4 UTSW 15 73,458,665 (GRCm39) missense probably benign 0.01
R1172:Slc45a4 UTSW 15 73,477,278 (GRCm39) splice site probably benign
R1331:Slc45a4 UTSW 15 73,458,596 (GRCm39) missense probably benign 0.00
R1739:Slc45a4 UTSW 15 73,457,887 (GRCm39) missense probably damaging 1.00
R2310:Slc45a4 UTSW 15 73,461,409 (GRCm39) missense probably damaging 1.00
R4695:Slc45a4 UTSW 15 73,453,924 (GRCm39) missense possibly damaging 0.94
R4904:Slc45a4 UTSW 15 73,458,691 (GRCm39) missense probably benign 0.18
R6033:Slc45a4 UTSW 15 73,453,825 (GRCm39) missense probably damaging 1.00
R6033:Slc45a4 UTSW 15 73,453,825 (GRCm39) missense probably damaging 1.00
R6114:Slc45a4 UTSW 15 73,477,453 (GRCm39) missense probably damaging 0.96
R7057:Slc45a4 UTSW 15 73,459,487 (GRCm39) missense probably damaging 1.00
R7221:Slc45a4 UTSW 15 73,458,259 (GRCm39) missense probably benign 0.06
R7288:Slc45a4 UTSW 15 73,458,785 (GRCm39) nonsense probably null
R7331:Slc45a4 UTSW 15 73,477,489 (GRCm39) missense probably benign 0.02
R7874:Slc45a4 UTSW 15 73,456,184 (GRCm39) splice site probably null
R7901:Slc45a4 UTSW 15 73,477,621 (GRCm39) start gained probably benign
R8003:Slc45a4 UTSW 15 73,457,162 (GRCm39) nonsense probably null
R8188:Slc45a4 UTSW 15 73,456,383 (GRCm39) missense probably benign 0.42
R8315:Slc45a4 UTSW 15 73,461,405 (GRCm39) missense probably damaging 1.00
R8827:Slc45a4 UTSW 15 73,458,316 (GRCm39) missense probably benign
R8856:Slc45a4 UTSW 15 73,457,966 (GRCm39) missense probably damaging 1.00
R9089:Slc45a4 UTSW 15 73,457,953 (GRCm39) missense probably damaging 1.00
R9278:Slc45a4 UTSW 15 73,458,206 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CTGTTGCCTTCATCAGAAAGGAAG -3'
(R):5'- CCTGCAGGCCTAGGTTAAAC -3'

Sequencing Primer
(F):5'- TGCCTTCATCAGAAAGGAAGACAGAG -3'
(R):5'- CTGCAGGCCTAGGTTAAACCAGAG -3'
Posted On 2016-04-27