Incidental Mutation 'R5958:Slc22a22'
ID 471310
Institutional Source Beutler Lab
Gene Symbol Slc22a22
Ensembl Gene ENSMUSG00000022366
Gene Name solute carrier family 22 (organic cation transporter), member 22
Synonyms OAT-PG, BC026439
MMRRC Submission 044145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5958 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57107163-57341021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57126932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 46 (A46T)
Ref Sequence ENSEMBL: ENSMUSP00000105825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196] [ENSMUST00000137764]
AlphaFold Q8R0S9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022995
AA Change: A46T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: A46T

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:MFS_1 117 483 1.2e-26 PFAM
Pfam:Sugar_tr 144 447 1.3e-20 PFAM
Pfam:Sugar_tr 393 553 3.2e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110196
AA Change: A46T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: A46T

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:MFS_1 116 483 1.4e-26 PFAM
Pfam:Sugar_tr 145 426 1e-19 PFAM
Pfam:Sugar_tr 391 553 2.7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000137764
AA Change: A27T

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123667
Gene: ENSMUSG00000022366
AA Change: A27T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency 95% (75/79)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,030,367 (GRCm39) D616G probably damaging Het
Adam30 A G 3: 98,069,280 (GRCm39) N243S probably damaging Het
Adck1 A G 12: 88,425,822 (GRCm39) I417V probably benign Het
Adcy4 T C 14: 56,016,556 (GRCm39) probably null Het
Ahctf1 A G 1: 179,574,107 (GRCm39) probably benign Het
Ap1s3 G T 1: 79,591,960 (GRCm39) T130K probably benign Het
Apold1 C T 6: 134,960,686 (GRCm39) R47C probably damaging Het
Atp13a5 T C 16: 29,157,860 (GRCm39) K197E probably damaging Het
Camk2d T G 3: 126,573,514 (GRCm39) probably benign Het
Ccin A G 4: 43,983,854 (GRCm39) D87G probably damaging Het
Cdan1 T C 2: 120,554,383 (GRCm39) T889A possibly damaging Het
Cel T A 2: 28,450,957 (GRCm39) Y102F probably damaging Het
Cma1 A C 14: 56,179,113 (GRCm39) *248E probably null Het
Cnbd1 T C 4: 18,862,056 (GRCm39) N378S probably benign Het
Col18a1 T A 10: 76,932,231 (GRCm39) Y533F probably benign Het
Cpb2 T C 14: 75,520,827 (GRCm39) I414T probably damaging Het
Dagla T C 19: 10,225,788 (GRCm39) Y792C probably damaging Het
Dlgap5 T A 14: 47,651,211 (GRCm39) E107D probably damaging Het
Dmtf1 T A 5: 9,172,415 (GRCm39) probably benign Het
Dst A G 1: 34,225,131 (GRCm39) K1682R probably damaging Het
Epyc A T 10: 97,485,704 (GRCm39) H48L probably benign Het
Fam135b A G 15: 71,334,744 (GRCm39) S817P Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxk1 T C 5: 142,442,429 (GRCm39) V693A probably benign Het
Fuom A T 7: 139,679,811 (GRCm39) F122I probably damaging Het
Glg1 G T 8: 111,985,736 (GRCm39) H31Q probably benign Het
Gm13199 C T 2: 5,867,065 (GRCm39) probably benign Het
Hdac9 G T 12: 34,423,882 (GRCm39) Q595K probably damaging Het
Homez C T 14: 55,094,298 (GRCm39) R119Q probably benign Het
Ifit3b A G 19: 34,589,142 (GRCm39) H106R probably benign Het
Ift57 C T 16: 49,531,471 (GRCm39) probably benign Het
Itk A T 11: 46,235,682 (GRCm39) probably benign Het
Katnip A G 7: 125,412,807 (GRCm39) K358E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhdc3 A T 17: 46,986,028 (GRCm39) V378D probably benign Het
Klhl14 A G 18: 21,698,592 (GRCm39) I407T probably damaging Het
Meioc A T 11: 102,565,979 (GRCm39) T476S probably benign Het
Olfm3 G A 3: 114,915,955 (GRCm39) V276I probably damaging Het
Or5b24 T C 19: 12,912,411 (GRCm39) F103S probably damaging Het
Pcm1 T C 8: 41,782,016 (GRCm39) L1972P probably damaging Het
Pcsk6 A G 7: 65,693,359 (GRCm39) E3G probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Pik3c2a A G 7: 115,961,799 (GRCm39) L1010S probably damaging Het
Pitpnm3 G T 11: 72,003,193 (GRCm39) probably null Het
Prrc2b A G 2: 32,102,092 (GRCm39) M722V possibly damaging Het
Rad18 T C 6: 112,673,603 (GRCm39) probably benign Het
Senp6 T C 9: 80,049,576 (GRCm39) S1036P probably damaging Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spag6l C A 16: 16,580,885 (GRCm39) probably null Het
Strc T C 2: 121,207,403 (GRCm39) H656R possibly damaging Het
Tanc2 A G 11: 105,731,451 (GRCm39) D409G probably benign Het
Thap11 A G 8: 106,582,696 (GRCm39) H235R probably damaging Het
Thsd7a T A 6: 12,337,261 (GRCm39) Y1252F probably benign Het
Tlr11 T G 14: 50,598,234 (GRCm39) N73K probably damaging Het
Ttll10 T C 4: 156,120,523 (GRCm39) probably null Het
Ubr4 A T 4: 139,182,949 (GRCm39) N445I probably damaging Het
Ugt1a6a C T 1: 88,143,510 (GRCm39) probably benign Het
Urb2 T C 8: 124,756,398 (GRCm39) F702L probably benign Het
Utp14b A T 1: 78,642,659 (GRCm39) K186* probably null Het
Utp14b A T 1: 78,642,660 (GRCm39) K186M probably damaging Het
Vmn2r16 T A 5: 109,510,153 (GRCm39) M512K possibly damaging Het
Vmn2r27 T A 6: 124,208,686 (GRCm39) M20L probably benign Het
Other mutations in Slc22a22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Slc22a22 APN 15 57,117,674 (GRCm39) missense probably damaging 1.00
IGL01140:Slc22a22 APN 15 57,126,734 (GRCm39) missense probably damaging 1.00
IGL02350:Slc22a22 APN 15 57,110,844 (GRCm39) missense probably benign 0.16
IGL02357:Slc22a22 APN 15 57,110,844 (GRCm39) missense probably benign 0.16
IGL03115:Slc22a22 APN 15 57,126,670 (GRCm39) missense probably damaging 1.00
IGL03244:Slc22a22 APN 15 57,112,948 (GRCm39) splice site probably benign
IGL03384:Slc22a22 APN 15 57,117,612 (GRCm39) missense probably benign 0.01
R0371:Slc22a22 UTSW 15 57,113,131 (GRCm39) missense possibly damaging 0.82
R0501:Slc22a22 UTSW 15 57,113,046 (GRCm39) missense probably benign 0.16
R0684:Slc22a22 UTSW 15 57,126,758 (GRCm39) missense probably benign 0.04
R0722:Slc22a22 UTSW 15 57,119,949 (GRCm39) splice site probably null
R1240:Slc22a22 UTSW 15 57,114,268 (GRCm39) missense probably benign 0.02
R1472:Slc22a22 UTSW 15 57,110,916 (GRCm39) missense probably benign 0.03
R2040:Slc22a22 UTSW 15 57,110,936 (GRCm39) nonsense probably null
R2125:Slc22a22 UTSW 15 57,117,636 (GRCm39) missense probably damaging 1.00
R3707:Slc22a22 UTSW 15 57,114,369 (GRCm39) missense probably damaging 1.00
R3921:Slc22a22 UTSW 15 57,119,940 (GRCm39) missense probably benign 0.07
R4184:Slc22a22 UTSW 15 57,119,962 (GRCm39) nonsense probably null
R4561:Slc22a22 UTSW 15 57,126,781 (GRCm39) missense probably damaging 1.00
R4626:Slc22a22 UTSW 15 57,126,734 (GRCm39) missense probably damaging 1.00
R4887:Slc22a22 UTSW 15 57,113,148 (GRCm39) missense probably benign 0.20
R5181:Slc22a22 UTSW 15 57,118,519 (GRCm39) missense probably benign 0.08
R5486:Slc22a22 UTSW 15 57,126,847 (GRCm39) missense probably damaging 0.97
R5621:Slc22a22 UTSW 15 57,122,547 (GRCm39) missense probably benign 0.02
R5812:Slc22a22 UTSW 15 57,119,869 (GRCm39) critical splice donor site probably null
R6517:Slc22a22 UTSW 15 57,114,365 (GRCm39) missense probably benign 0.28
R6555:Slc22a22 UTSW 15 57,122,527 (GRCm39) missense probably benign 0.08
R6724:Slc22a22 UTSW 15 57,110,928 (GRCm39) missense probably damaging 1.00
R6744:Slc22a22 UTSW 15 57,117,668 (GRCm39) missense possibly damaging 0.46
R7078:Slc22a22 UTSW 15 57,126,876 (GRCm39) missense probably benign 0.01
R7085:Slc22a22 UTSW 15 57,113,045 (GRCm39) missense probably benign 0.00
R7263:Slc22a22 UTSW 15 57,113,107 (GRCm39) missense probably benign
R7335:Slc22a22 UTSW 15 57,126,771 (GRCm39) missense probably benign 0.19
R7859:Slc22a22 UTSW 15 57,114,348 (GRCm39) missense probably benign 0.02
R7871:Slc22a22 UTSW 15 57,126,751 (GRCm39) missense possibly damaging 0.86
R8297:Slc22a22 UTSW 15 57,122,506 (GRCm39) missense probably damaging 1.00
R8340:Slc22a22 UTSW 15 57,127,086 (GRCm39) critical splice acceptor site probably null
R8358:Slc22a22 UTSW 15 57,108,243 (GRCm39) missense probably damaging 1.00
R8811:Slc22a22 UTSW 15 57,108,237 (GRCm39) missense probably damaging 1.00
R9461:Slc22a22 UTSW 15 57,127,052 (GRCm39) missense probably damaging 0.99
R9461:Slc22a22 UTSW 15 57,108,342 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATCTAGACACGGCTCAGTC -3'
(R):5'- CAGGGAAGGAATGTGCATTTTG -3'

Sequencing Primer
(F):5'- TAGACACGGCTCAGTCTCTAG -3'
(R):5'- AGGGAAGGAATGTGCATTTTGTTGAG -3'
Posted On 2017-03-31