Incidental Mutation 'R6511:Slc41a2'
ID 519919
Institutional Source Beutler Lab
Gene Symbol Slc41a2
Ensembl Gene ENSMUSG00000034591
Gene Name solute carrier family 41, member 2
Synonyms A230035L05Rik
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 83066712-83173746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83119652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 370 (H370R)
Ref Sequence ENSEMBL: ENSMUSP00000036690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956]
AlphaFold Q8BYR8
Predicted Effect probably damaging
Transcript: ENSMUST00000039956
AA Change: H370R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: H370R

DomainStartEndE-ValueType
transmembrane domain 159 181 N/A INTRINSIC
Pfam:MgtE 200 334 8.7e-24 PFAM
transmembrane domain 346 368 N/A INTRINSIC
transmembrane domain 375 397 N/A INTRINSIC
Pfam:MgtE 414 557 2.9e-32 PFAM
Meta Mutation Damage Score 0.2050 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Slc41a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Slc41a2 APN 10 83,149,394 (GRCm39) unclassified probably benign
IGL02263:Slc41a2 APN 10 83,149,364 (GRCm39) missense possibly damaging 0.82
IGL02338:Slc41a2 APN 10 83,152,455 (GRCm39) missense possibly damaging 0.68
IGL02680:Slc41a2 APN 10 83,119,728 (GRCm39) missense probably benign 0.20
IGL02703:Slc41a2 APN 10 83,090,711 (GRCm39) missense probably damaging 1.00
IGL03039:Slc41a2 APN 10 83,119,722 (GRCm39) missense probably benign 0.37
PIT4508001:Slc41a2 UTSW 10 83,090,744 (GRCm39) missense probably damaging 0.99
R0326:Slc41a2 UTSW 10 83,119,610 (GRCm39) missense probably damaging 1.00
R0470:Slc41a2 UTSW 10 83,152,086 (GRCm39) missense possibly damaging 0.94
R0610:Slc41a2 UTSW 10 83,119,592 (GRCm39) missense possibly damaging 0.75
R1708:Slc41a2 UTSW 10 83,069,596 (GRCm39) missense probably damaging 1.00
R1765:Slc41a2 UTSW 10 83,137,130 (GRCm39) missense probably damaging 1.00
R1870:Slc41a2 UTSW 10 83,137,029 (GRCm39) nonsense probably null
R1875:Slc41a2 UTSW 10 83,091,949 (GRCm39) missense probably damaging 1.00
R2008:Slc41a2 UTSW 10 83,140,167 (GRCm39) critical splice donor site probably null
R2172:Slc41a2 UTSW 10 83,119,638 (GRCm39) missense probably benign 0.00
R4193:Slc41a2 UTSW 10 83,137,085 (GRCm39) missense probably damaging 0.97
R4789:Slc41a2 UTSW 10 83,152,320 (GRCm39) missense probably damaging 1.00
R4861:Slc41a2 UTSW 10 83,152,322 (GRCm39) missense probably damaging 0.99
R4861:Slc41a2 UTSW 10 83,152,322 (GRCm39) missense probably damaging 0.99
R4913:Slc41a2 UTSW 10 83,149,284 (GRCm39) missense probably damaging 1.00
R5012:Slc41a2 UTSW 10 83,137,127 (GRCm39) missense probably benign 0.02
R5140:Slc41a2 UTSW 10 83,133,155 (GRCm39) missense probably damaging 0.98
R5189:Slc41a2 UTSW 10 83,149,275 (GRCm39) splice site probably null
R5410:Slc41a2 UTSW 10 83,117,232 (GRCm39) critical splice donor site probably null
R5748:Slc41a2 UTSW 10 83,133,023 (GRCm39) missense probably benign 0.00
R5808:Slc41a2 UTSW 10 83,149,362 (GRCm39) missense probably benign 0.29
R6124:Slc41a2 UTSW 10 83,133,116 (GRCm39) missense probably damaging 1.00
R6292:Slc41a2 UTSW 10 83,090,790 (GRCm39) missense probably damaging 0.99
R6793:Slc41a2 UTSW 10 83,137,022 (GRCm39) splice site probably null
R6970:Slc41a2 UTSW 10 83,151,960 (GRCm39) missense possibly damaging 0.53
R7584:Slc41a2 UTSW 10 83,152,653 (GRCm39) splice site probably benign
R7752:Slc41a2 UTSW 10 83,091,905 (GRCm39) missense possibly damaging 0.73
R8289:Slc41a2 UTSW 10 83,137,044 (GRCm39) missense probably benign 0.06
R8700:Slc41a2 UTSW 10 83,152,097 (GRCm39) missense probably damaging 1.00
R9607:Slc41a2 UTSW 10 83,119,631 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GATGCCTCATTTCCAGTCCAAG -3'
(R):5'- GCATTGTCATCCCATATTTGTGG -3'

Sequencing Primer
(F):5'- TGTACATACCTACACAGACC -3'
(R):5'- ACAGGCTGGCCTTAAACTTG -3'
Posted On 2018-06-06