Incidental Mutation 'PIT4508001:Slc41a2'
ID 556231
Institutional Source Beutler Lab
Gene Symbol Slc41a2
Ensembl Gene ENSMUSG00000034591
Gene Name solute carrier family 41, member 2
Synonyms A230035L05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # PIT4508001 (G1)
Quality Score 218.009
Status Not validated
Chromosome 10
Chromosomal Location 83066712-83173746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 83090744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 480 (H480P)
Ref Sequence ENSEMBL: ENSMUSP00000036690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039956]
AlphaFold Q8BYR8
Predicted Effect probably damaging
Transcript: ENSMUST00000039956
AA Change: H480P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000036690
Gene: ENSMUSG00000034591
AA Change: H480P

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
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 90.7%
  • 10x: 84.6%
  • 20x: 71.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,176,128 (GRCm39) T1228A probably damaging Het
Actg2 A T 6: 83,489,989 (GRCm39) I370N possibly damaging Het
Ankrd36 A G 11: 5,557,137 (GRCm39) T330A possibly damaging Het
Atrip C T 9: 108,903,057 (GRCm39) A6T possibly damaging Het
Bms1 G A 6: 118,360,767 (GRCm39) R1234C probably benign Het
Cacnb2 A T 2: 14,989,230 (GRCm39) T487S probably benign Het
Cert1 T C 13: 96,767,284 (GRCm39) F478S probably damaging Het
Esco2 A T 14: 66,068,914 (GRCm39) V132E probably damaging Het
Gjb5 A T 4: 127,250,033 (GRCm39) L37Q probably damaging Het
Gm8020 T A 14: 42,324,234 (GRCm39) Y24F Het
H2bc8 CTCGACCATCACGTC CTC 13: 23,755,867 (GRCm39) probably benign Het
H2-Q6 T C 17: 35,644,796 (GRCm39) L195P probably damaging Het
Hc T C 2: 34,874,816 (GRCm39) T1602A probably damaging Het
Hcrtr2 A T 9: 76,153,662 (GRCm39) Y243* probably null Het
Itga3 T C 11: 94,946,719 (GRCm39) H730R probably benign Het
Kif1a A T 1: 92,974,451 (GRCm39) L866Q probably damaging Het
Krt81 A T 15: 101,360,606 (GRCm39) L127Q probably damaging Het
Mdn1 T C 4: 32,719,223 (GRCm39) I2262T probably damaging Het
Mxd3 A T 13: 55,473,707 (GRCm39) D170E probably benign Het
Myh2 A G 11: 67,076,331 (GRCm39) M811V probably benign Het
Naa16 A T 14: 79,606,527 (GRCm39) D335E probably benign Het
Nkd1 A G 8: 89,249,028 (GRCm39) T58A probably benign Het
Ogfrl1 T A 1: 23,409,351 (GRCm39) R292* probably null Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Or5w13 G A 2: 87,524,059 (GRCm39) H56Y probably damaging Het
Pom121l12 A G 11: 14,549,689 (GRCm39) R132G possibly damaging Het
Prss46 A G 9: 110,680,484 (GRCm39) K210E probably damaging Het
Scn8a T C 15: 100,927,573 (GRCm39) Y1351H probably damaging Het
Shisa9 G A 16: 12,085,344 (GRCm39) V318I probably benign Het
Slc45a1 C A 4: 150,722,892 (GRCm39) A331S probably benign Het
Smg1 A T 7: 117,784,764 (GRCm39) F885I unknown Het
Speer4f1 T C 5: 17,685,412 (GRCm39) S236P unknown Het
Zfp326 A T 5: 106,062,556 (GRCm39) Q475L probably benign Het
Zzef1 T G 11: 72,786,002 (GRCm39) V2058G probably benign 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
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
R6511:Slc41a2 UTSW 10 83,119,652 (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'- TGCTGTAGATGGCCATCAAG -3'
(R):5'- ACGTCCAAAGTTGTCTTCCAATG -3'

Sequencing Primer
(F):5'- GATGGCCATCAAGACAGTTTCTCAG -3'
(R):5'- TGGTAACTTAGCTTACAGCGTCCAG -3'
Posted On 2019-06-07