Incidental Mutation 'R9435:Slc41a1'
ID 713206
Institutional Source Beutler Lab
Gene Symbol Slc41a1
Ensembl Gene ENSMUSG00000013275
Gene Name solute carrier family 41, member 1
Synonyms B230315F01Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9435 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131755236-131776601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131766896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 138 (V138E)
Ref Sequence ENSEMBL: ENSMUSP00000083747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086559]
AlphaFold Q8BJA2
Predicted Effect probably damaging
Transcript: ENSMUST00000086559
AA Change: V138E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083747
Gene: ENSMUSG00000013275
AA Change: V138E

DomainStartEndE-ValueType
transmembrane domain 97 119 N/A INTRINSIC
Pfam:MgtE 138 272 1.9e-25 PFAM
transmembrane domain 283 305 N/A INTRINSIC
transmembrane domain 314 336 N/A INTRINSIC
Pfam:MgtE 352 496 1.3e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,562 (GRCm39) D1134E probably benign Het
Abca5 C T 11: 110,182,911 (GRCm39) probably null Het
Acp2 A G 2: 91,036,409 (GRCm39) T169A probably damaging Het
Agtpbp1 A T 13: 59,622,429 (GRCm39) N932K probably benign Het
Aldh5a1 G A 13: 25,121,293 (GRCm39) R87C probably damaging Het
Bpifa1 G T 2: 153,985,843 (GRCm39) A53S unknown Het
Cacna2d2 T C 9: 107,396,384 (GRCm39) I667T probably benign Het
Catsperg1 T A 7: 28,889,751 (GRCm39) T784S probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Cd46 C G 1: 194,767,720 (GRCm39) D114H probably damaging Het
Cd82 A T 2: 93,267,740 (GRCm39) L19Q probably damaging Het
Celsr1 T C 15: 85,806,535 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,961,885 (GRCm39) I180T possibly damaging Het
Drg2 T C 11: 60,358,966 (GRCm39) V362A probably benign Het
Eef2 T A 10: 81,014,994 (GRCm39) M231K probably benign Het
Egr2 T C 10: 67,375,628 (GRCm39) Y75H probably damaging Het
Exoc6 A C 19: 37,585,545 (GRCm39) Q473H probably benign Het
Focad T A 4: 88,267,076 (GRCm39) M1029K unknown Het
Fpr-rs4 T A 17: 18,242,391 (GRCm39) S133T probably benign Het
Gbf1 T C 19: 46,268,432 (GRCm39) V1322A probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gm7579 GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG 7: 141,765,782 (GRCm39) probably benign Het
Golph3l T C 3: 95,496,369 (GRCm39) V31A probably benign Het
Iars2 A T 1: 185,034,913 (GRCm39) V610D probably damaging Het
Igsf6 T A 7: 120,666,472 (GRCm39) I203F probably damaging Het
Ildr2 A G 1: 166,136,691 (GRCm39) Y510C probably damaging Het
Iqcf4 C A 9: 106,445,652 (GRCm39) R165L possibly damaging Het
Itgb1bp1 T G 12: 21,320,943 (GRCm39) I183L possibly damaging Het
Itgb4 A C 11: 115,895,855 (GRCm39) S1414R probably benign Het
Kbtbd7 G T 14: 79,664,944 (GRCm39) A259S probably benign Het
Kif14 T A 1: 136,401,174 (GRCm39) D508E possibly damaging Het
Klc2 A T 19: 5,159,662 (GRCm39) D484E possibly damaging Het
Lamc2 T C 1: 153,013,072 (GRCm39) S630G probably benign Het
Myl6b G A 10: 128,331,066 (GRCm39) T125M possibly damaging Het
Nbea T A 3: 55,943,309 (GRCm39) K655N possibly damaging Het
Nkx3-2 T C 5: 41,919,493 (GRCm39) D165G probably benign Het
Npy A T 6: 49,804,481 (GRCm39) R67S probably damaging Het
Nrg3 A T 14: 39,194,556 (GRCm39) C68S possibly damaging Het
Nup160 C T 2: 90,560,138 (GRCm39) P1288S probably damaging Het
Or52e15 T C 7: 104,645,946 (GRCm39) H55R probably benign Het
Or8g33 A G 9: 39,337,506 (GRCm39) L287P probably benign Het
Pam T A 1: 97,822,144 (GRCm39) I287L probably benign Het
Phf10 T C 17: 15,165,387 (GRCm39) R490G probably benign Het
Prim2 T C 1: 33,523,876 (GRCm39) Y345C probably damaging Het
Ptchd3 C T 11: 121,721,646 (GRCm39) A173V probably benign Het
Rab8b G A 9: 66,755,912 (GRCm39) R167W probably damaging Het
S100a3 A G 3: 90,509,502 (GRCm39) E49G probably benign Het
Slit1 C A 19: 41,591,764 (GRCm39) probably null Het
Sntg1 T A 1: 8,433,814 (GRCm39) H479L probably damaging Het
Stam T A 2: 14,120,801 (GRCm39) C72S probably damaging Het
Sval2 G T 6: 41,840,795 (GRCm39) A93S probably benign Het
Tas2r103 T A 6: 133,013,686 (GRCm39) K127* probably null Het
Trank1 C T 9: 111,193,890 (GRCm39) T638M probably benign Het
Utrn T A 10: 12,519,173 (GRCm39) I2260F probably damaging Het
Zfp268 G C 4: 145,349,045 (GRCm39) E161Q Het
Zfp280d T C 9: 72,226,599 (GRCm39) probably null Het
Other mutations in Slc41a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Slc41a1 APN 1 131,766,914 (GRCm39) missense probably damaging 1.00
IGL01368:Slc41a1 APN 1 131,766,862 (GRCm39) missense probably damaging 0.99
R0255:Slc41a1 UTSW 1 131,771,650 (GRCm39) splice site probably benign
R0737:Slc41a1 UTSW 1 131,768,690 (GRCm39) missense probably damaging 1.00
R1367:Slc41a1 UTSW 1 131,771,746 (GRCm39) missense probably benign
R1474:Slc41a1 UTSW 1 131,774,319 (GRCm39) missense probably damaging 0.98
R1927:Slc41a1 UTSW 1 131,768,938 (GRCm39) missense probably damaging 0.99
R4518:Slc41a1 UTSW 1 131,766,863 (GRCm39) missense probably damaging 0.99
R4790:Slc41a1 UTSW 1 131,758,690 (GRCm39) missense probably damaging 1.00
R4851:Slc41a1 UTSW 1 131,758,508 (GRCm39) missense probably benign 0.02
R5180:Slc41a1 UTSW 1 131,772,115 (GRCm39) missense probably damaging 0.99
R5633:Slc41a1 UTSW 1 131,774,325 (GRCm39) missense possibly damaging 0.68
R6060:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
R6526:Slc41a1 UTSW 1 131,768,887 (GRCm39) missense probably damaging 1.00
R6787:Slc41a1 UTSW 1 131,770,487 (GRCm39) splice site probably null
R7038:Slc41a1 UTSW 1 131,769,795 (GRCm39) missense possibly damaging 0.60
R7258:Slc41a1 UTSW 1 131,769,780 (GRCm39) missense probably benign 0.27
R7382:Slc41a1 UTSW 1 131,774,370 (GRCm39) missense probably damaging 1.00
R7405:Slc41a1 UTSW 1 131,766,884 (GRCm39) missense probably damaging 1.00
R7432:Slc41a1 UTSW 1 131,758,694 (GRCm39) missense probably damaging 1.00
R7574:Slc41a1 UTSW 1 131,766,889 (GRCm39) missense probably damaging 1.00
R7873:Slc41a1 UTSW 1 131,758,561 (GRCm39) missense possibly damaging 0.62
R7942:Slc41a1 UTSW 1 131,768,635 (GRCm39) missense probably damaging 0.99
R7956:Slc41a1 UTSW 1 131,771,766 (GRCm39) missense possibly damaging 0.53
R9040:Slc41a1 UTSW 1 131,768,623 (GRCm39) missense probably damaging 0.98
R9723:Slc41a1 UTSW 1 131,772,103 (GRCm39) missense possibly damaging 0.94
Z1177:Slc41a1 UTSW 1 131,771,724 (GRCm39) missense probably benign
Z1189:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
Z1192:Slc41a1 UTSW 1 131,767,972 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TAAGGTGCCTCTCGTGCTTG -3'
(R):5'- TGCACAAACAGTCACGAGG -3'

Sequencing Primer
(F):5'- TCGTGCTTGCTCCAGCTGG -3'
(R):5'- CTGGGACATCCAAAGCCTGAG -3'
Posted On 2022-05-16