Incidental Mutation 'R5437:Tmem40'
ID 428422
Institutional Source Beutler Lab
Gene Symbol Tmem40
Ensembl Gene ENSMUSG00000059900
Gene Name transmembrane protein 40
Synonyms 9030407H20Rik
MMRRC Submission 043002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5437 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 115706092-115739371 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 115735992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072933] [ENSMUST00000112946] [ENSMUST00000166254] [ENSMUST00000170625]
AlphaFold Q4FJU9
Predicted Effect probably benign
Transcript: ENSMUST00000072933
SMART Domains Protein: ENSMUSP00000072704
Gene: ENSMUSG00000059900

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 45 71 N/A INTRINSIC
low complexity region 75 88 N/A INTRINSIC
low complexity region 120 139 N/A INTRINSIC
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000112946
AA Change: V8I
SMART Domains Protein: ENSMUSP00000108568
Gene: ENSMUSG00000059900
AA Change: V8I

DomainStartEndE-ValueType
low complexity region 45 56 N/A INTRINSIC
low complexity region 86 112 N/A INTRINSIC
low complexity region 116 129 N/A INTRINSIC
Pfam:TMEM40 146 265 2.4e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166254
SMART Domains Protein: ENSMUSP00000131697
Gene: ENSMUSG00000059900

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 45 71 N/A INTRINSIC
low complexity region 75 88 N/A INTRINSIC
low complexity region 120 139 N/A INTRINSIC
transmembrane domain 151 173 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170625
SMART Domains Protein: ENSMUSP00000130407
Gene: ENSMUSG00000059900

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
low complexity region 95 114 N/A INTRINSIC
transmembrane domain 126 148 N/A INTRINSIC
transmembrane domain 152 174 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Acaca G A 11: 84,237,646 (GRCm39) probably null Het
Acsm3 C A 7: 119,377,720 (GRCm39) probably benign Het
Aoc1 C A 6: 48,884,684 (GRCm39) Q576K probably benign Het
Atp6v0a4 T A 6: 38,053,668 (GRCm39) N378I probably damaging Het
Cacna1i A T 15: 80,255,730 (GRCm39) H871L probably damaging Het
Clic4 C G 4: 134,944,557 (GRCm39) R206P probably damaging Het
Commd9 G A 2: 101,731,373 (GRCm39) G186D probably damaging Het
Cpne9 C T 6: 113,281,591 (GRCm39) probably benign Het
Crhr2 C T 6: 55,077,718 (GRCm39) V196I probably damaging Het
Dctn5 T A 7: 121,732,552 (GRCm39) probably benign Het
Dhtkd1 C T 2: 5,928,930 (GRCm39) R247Q probably benign Het
Dmrta1 G A 4: 89,579,993 (GRCm39) G318R possibly damaging Het
Dpp6 T A 5: 27,868,499 (GRCm39) Y487* probably null Het
Eef1akmt3 A T 10: 126,869,116 (GRCm39) N119K probably damaging Het
Eloa A T 4: 135,740,196 (GRCm39) L75Q probably damaging Het
Fat3 G A 9: 15,996,604 (GRCm39) T1202M probably damaging Het
Fcho2 A G 13: 98,913,982 (GRCm39) I205T possibly damaging Het
Fkbp10 A C 11: 100,311,849 (GRCm39) D174A probably damaging Het
Gcnt2 T A 13: 41,014,652 (GRCm39) F274L probably damaging Het
Gtf3c1 A T 7: 125,266,540 (GRCm39) C969S probably damaging Het
Hook3 T C 8: 26,551,450 (GRCm39) E130G probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Itsn1 T A 16: 91,615,479 (GRCm39) probably benign Het
Kif13b C T 14: 65,043,563 (GRCm39) R1788C probably damaging Het
Kif3a C T 11: 53,489,553 (GRCm39) S135F probably damaging Het
Klf5 C T 14: 99,538,895 (GRCm39) R23* probably null Het
Lcn5 A G 2: 25,548,023 (GRCm39) I11V probably benign Het
Mpp7 A T 18: 7,458,930 (GRCm39) probably null Het
Mroh5 T C 15: 73,659,818 (GRCm39) I338V probably benign Het
Mthfd2l A G 5: 91,096,757 (GRCm39) N126S possibly damaging Het
Myo18b G T 5: 112,905,439 (GRCm39) A2053E possibly damaging Het
Naip6 A T 13: 100,439,812 (GRCm39) C318* probably null Het
Ndufs7 C T 10: 80,090,758 (GRCm39) R116C possibly damaging Het
Odr4 T G 1: 150,239,269 (GRCm39) I385L probably benign Het
Or1ad6 T C 11: 50,859,935 (GRCm39) M30T probably benign Het
Pnkd T C 1: 74,388,896 (GRCm39) V214A possibly damaging Het
Popdc2 T G 16: 38,183,263 (GRCm39) V82G probably benign Het
Prkdc A T 16: 15,587,739 (GRCm39) L2541F possibly damaging Het
Ptpn9 A T 9: 56,927,321 (GRCm39) H66L possibly damaging Het
Pygm T A 19: 6,440,412 (GRCm39) N397K probably damaging Het
Rabgap1l T A 1: 160,549,717 (GRCm39) E324D probably damaging Het
Rnf6 G A 5: 146,147,090 (GRCm39) R643C probably damaging Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scn7a A G 2: 66,506,690 (GRCm39) Y1400H probably damaging Het
Septin10 T A 10: 59,012,781 (GRCm39) N279I probably damaging Het
Sh3rf2 A T 18: 42,274,079 (GRCm39) Y415F probably benign Het
Sorcs1 T C 19: 50,241,040 (GRCm39) T449A probably benign Het
Tcam1 C T 11: 106,176,249 (GRCm39) T325M probably damaging Het
Tctn1 A G 5: 122,396,942 (GRCm39) I147T probably benign Het
Tet1 G T 10: 62,650,230 (GRCm39) H30Q probably benign Het
Tmem109 A G 19: 10,849,378 (GRCm39) I159T probably damaging Het
Tnfrsf21 C T 17: 43,348,753 (GRCm39) P122S possibly damaging Het
Uaca A G 9: 60,778,733 (GRCm39) D1038G probably benign Het
Ubr2 C G 17: 47,274,623 (GRCm39) E852D probably benign Het
Ubr3 A T 2: 69,774,734 (GRCm39) N518I probably damaging Het
Unc80 T G 1: 66,693,737 (GRCm39) L2596R possibly damaging Het
Zcchc3 G A 2: 152,256,652 (GRCm39) P16S probably benign Het
Other mutations in Tmem40
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0403:Tmem40 UTSW 6 115,710,946 (GRCm39) splice site probably benign
R1740:Tmem40 UTSW 6 115,715,960 (GRCm39) missense probably benign
R2238:Tmem40 UTSW 6 115,708,038 (GRCm39) nonsense probably null
R2909:Tmem40 UTSW 6 115,713,342 (GRCm39) critical splice donor site probably null
R3085:Tmem40 UTSW 6 115,718,576 (GRCm39) missense possibly damaging 0.85
R5806:Tmem40 UTSW 6 115,713,373 (GRCm39) missense probably benign 0.33
R6086:Tmem40 UTSW 6 115,710,628 (GRCm39) missense possibly damaging 0.85
R7202:Tmem40 UTSW 6 115,707,420 (GRCm39) missense probably damaging 0.99
R9130:Tmem40 UTSW 6 115,710,980 (GRCm39) missense possibly damaging 0.71
R9469:Tmem40 UTSW 6 115,719,321 (GRCm39) missense possibly damaging 0.73
R9680:Tmem40 UTSW 6 115,718,517 (GRCm39) missense possibly damaging 0.73
R9749:Tmem40 UTSW 6 115,719,306 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCACAGGGAGCCTAAAGATC -3'
(R):5'- CACTCGGGGCTTCAGGTTTTAG -3'

Sequencing Primer
(F):5'- GGGAGCCTAAAGATCAACCATGTC -3'
(R):5'- GCTTCAGGTTTTAGTGTGATCC -3'
Posted On 2016-09-01