Incidental Mutation 'PIT4403001:Tmc7'
ID 555472
Institutional Source Beutler Lab
Gene Symbol Tmc7
Ensembl Gene ENSMUSG00000042246
Gene Name transmembrane channel-like gene family 7
Synonyms 1700030H01Rik, C630024K23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4403001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 118135064-118183959 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118146624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 488 (Q488P)
Ref Sequence ENSEMBL: ENSMUSP00000046927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044195]
AlphaFold Q8C428
Predicted Effect possibly damaging
Transcript: ENSMUST00000044195
AA Change: Q488P

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: Q488P

DomainStartEndE-ValueType
transmembrane domain 167 189 N/A INTRINSIC
transmembrane domain 216 238 N/A INTRINSIC
transmembrane domain 258 280 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
transmembrane domain 402 424 N/A INTRINSIC
Pfam:TMC 484 595 5.2e-51 PFAM
transmembrane domain 599 621 N/A INTRINSIC
transmembrane domain 664 686 N/A INTRINSIC
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 84.9%
  • 20x: 73.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh4 T C 3: 138,129,939 (GRCm39) V255A probably damaging Het
Ahnak T C 19: 8,983,540 (GRCm39) I1608T possibly damaging Het
Atm A T 9: 53,412,282 (GRCm39) D955E probably benign Het
Cacybp A G 1: 160,033,764 (GRCm39) S113P probably damaging Het
Cenpu C T 8: 47,015,564 (GRCm39) P160S possibly damaging Het
Clstn3 C T 6: 124,434,982 (GRCm39) G348D probably damaging Het
Cmtr1 T G 17: 29,917,047 (GRCm39) probably null Het
Dlgap2 T C 8: 14,881,528 (GRCm39) S867P probably damaging Het
Fbn1 A T 2: 125,184,831 (GRCm39) C1654S probably damaging Het
Fbxl3 G A 14: 103,332,900 (GRCm39) T26M possibly damaging Het
Garnl3 A T 2: 32,880,770 (GRCm39) L874Q probably damaging Het
Gcm2 A G 13: 41,256,315 (GRCm39) V478A probably benign Het
Gm1527 T C 3: 28,972,134 (GRCm39) I417T possibly damaging Het
Grip1 A G 10: 119,765,833 (GRCm39) E55G probably damaging Het
Ighv1-4 A G 12: 114,450,824 (GRCm39) S95P probably damaging Het
Jak3 C T 8: 72,136,993 (GRCm39) T723I probably benign Het
Jup A G 11: 100,268,913 (GRCm39) probably null Het
Kcng3 A G 17: 83,895,611 (GRCm39) L285S probably damaging Het
Kmt2b G A 7: 30,285,114 (GRCm39) P593S probably damaging Het
Matcap1 T C 8: 106,011,376 (GRCm39) N253D probably benign Het
Mstn T C 1: 53,100,944 (GRCm39) M7T probably benign Het
Myh2 A T 11: 67,077,533 (GRCm39) K889N probably benign Het
Myo5a A G 9: 75,124,805 (GRCm39) T1787A probably damaging Het
Nlrp14 A T 7: 106,784,099 (GRCm39) Q607L possibly damaging Het
Ntf3 C T 6: 126,078,789 (GRCm39) R239Q probably damaging Het
Nup85 G T 11: 115,472,646 (GRCm39) R492L probably damaging Het
Ogfod3 A C 11: 121,087,561 (GRCm39) probably null Het
Or1j18 T A 2: 36,624,930 (GRCm39) I199K probably damaging Het
Or4c115 T A 2: 88,927,420 (GRCm39) M284L probably benign Het
Or4k40 A T 2: 111,251,165 (GRCm39) F44I probably benign Het
Or52h2 A G 7: 103,838,667 (GRCm39) V249A probably benign Het
Or8d1 T C 9: 38,766,676 (GRCm39) I106T probably benign Het
Oxct2a A T 4: 123,216,237 (GRCm39) D381E probably damaging Het
Pcdh20 G C 14: 88,704,462 (GRCm39) P946R probably damaging Het
Pdgfc C T 3: 81,082,268 (GRCm39) P154S probably damaging Het
Phkg1 T C 5: 129,894,772 (GRCm39) T260A probably benign Het
Pld4 T G 12: 112,734,256 (GRCm39) L374R probably damaging Het
Plekhj1 C T 10: 80,632,293 (GRCm39) D150N unknown Het
Plppr1 T G 4: 49,337,648 (GRCm39) N316K probably benign Het
Pola2 A C 19: 6,009,074 (GRCm39) S95A possibly damaging Het
Polq G A 16: 36,880,949 (GRCm39) D1038N probably benign Het
Prim1 A T 10: 127,858,745 (GRCm39) I218L probably benign Het
Prkcz A G 4: 155,377,613 (GRCm39) probably null Het
Ptgr1 T C 4: 58,968,794 (GRCm39) K282E probably benign Het
Rbm5 A G 9: 107,637,535 (GRCm39) M132T probably damaging Het
Scn2a C T 2: 65,542,252 (GRCm39) T785M probably damaging Het
Setx A G 2: 29,023,967 (GRCm39) E141G probably damaging Het
Slc24a2 A G 4: 86,950,523 (GRCm39) F425L probably benign Het
Smarcc2 A T 10: 128,298,893 (GRCm39) H92L probably damaging Het
Tatdn1 C G 15: 58,777,596 (GRCm39) E220Q probably damaging Het
Tmem45b C T 9: 31,338,188 (GRCm39) D264N probably benign Het
Tmtc4 A C 14: 123,210,641 (GRCm39) S72R probably benign Het
Tnc C A 4: 63,882,904 (GRCm39) D1906Y probably damaging Het
Ubac1 A T 2: 25,896,609 (GRCm39) M302K probably benign Het
Ubox5 A G 2: 130,442,597 (GRCm39) I30T probably damaging Het
Vwce A G 19: 10,615,461 (GRCm39) N114S possibly damaging Het
Xpo5 T A 17: 46,550,495 (GRCm39) D992E probably benign Het
Zfhx2 G A 14: 55,312,437 (GRCm39) P86S probably benign Het
Zfp335 T C 2: 164,735,636 (GRCm39) H1106R possibly damaging Het
Zfp653 T A 9: 21,977,053 (GRCm39) Q166L probably damaging Het
Zp3r T A 1: 130,510,609 (GRCm39) N436I possibly damaging Het
Other mutations in Tmc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Tmc7 APN 7 118,151,985 (GRCm39) missense probably damaging 1.00
IGL01456:Tmc7 APN 7 118,146,533 (GRCm39) splice site probably benign
IGL01784:Tmc7 APN 7 118,146,538 (GRCm39) critical splice donor site probably null
IGL02158:Tmc7 APN 7 118,137,434 (GRCm39) missense probably damaging 1.00
PIT4403001:Tmc7 UTSW 7 118,146,623 (GRCm39) missense probably benign 0.04
PIT4696001:Tmc7 UTSW 7 118,163,566 (GRCm39) missense probably benign 0.04
R1164:Tmc7 UTSW 7 118,141,247 (GRCm39) missense probably benign 0.01
R1169:Tmc7 UTSW 7 118,150,483 (GRCm39) missense probably benign 0.00
R1170:Tmc7 UTSW 7 118,150,483 (GRCm39) missense probably benign 0.00
R1420:Tmc7 UTSW 7 118,165,440 (GRCm39) nonsense probably null
R1885:Tmc7 UTSW 7 118,160,310 (GRCm39) missense possibly damaging 0.95
R1886:Tmc7 UTSW 7 118,160,310 (GRCm39) missense possibly damaging 0.95
R1887:Tmc7 UTSW 7 118,160,310 (GRCm39) missense possibly damaging 0.95
R1923:Tmc7 UTSW 7 118,144,850 (GRCm39) missense probably benign 0.08
R2220:Tmc7 UTSW 7 118,152,039 (GRCm39) missense possibly damaging 0.87
R4858:Tmc7 UTSW 7 118,142,565 (GRCm39) missense probably damaging 1.00
R5000:Tmc7 UTSW 7 118,158,077 (GRCm39) critical splice donor site probably null
R5038:Tmc7 UTSW 7 118,142,588 (GRCm39) missense probably damaging 1.00
R5075:Tmc7 UTSW 7 118,151,919 (GRCm39) critical splice donor site probably null
R5272:Tmc7 UTSW 7 118,160,276 (GRCm39) missense probably benign
R5691:Tmc7 UTSW 7 118,141,116 (GRCm39) missense probably benign
R5800:Tmc7 UTSW 7 118,138,663 (GRCm39) missense probably benign
R5889:Tmc7 UTSW 7 118,165,549 (GRCm39) missense probably benign 0.00
R5939:Tmc7 UTSW 7 118,144,950 (GRCm39) missense probably benign 0.33
R6251:Tmc7 UTSW 7 118,160,261 (GRCm39) missense possibly damaging 0.83
R6642:Tmc7 UTSW 7 118,144,834 (GRCm39) nonsense probably null
R6644:Tmc7 UTSW 7 118,137,385 (GRCm39) missense probably benign
R6814:Tmc7 UTSW 7 118,146,846 (GRCm39) missense probably benign 0.07
R6872:Tmc7 UTSW 7 118,146,846 (GRCm39) missense probably benign 0.07
R6967:Tmc7 UTSW 7 118,146,901 (GRCm39) missense probably benign 0.00
R7165:Tmc7 UTSW 7 118,155,157 (GRCm39) missense probably benign 0.00
R7492:Tmc7 UTSW 7 118,141,189 (GRCm39) missense probably benign 0.00
R7543:Tmc7 UTSW 7 118,144,979 (GRCm39) missense probably benign 0.01
R8048:Tmc7 UTSW 7 118,165,468 (GRCm39) missense probably benign
R8962:Tmc7 UTSW 7 118,160,228 (GRCm39) missense probably benign 0.00
R8964:Tmc7 UTSW 7 118,160,228 (GRCm39) missense probably benign 0.00
R8966:Tmc7 UTSW 7 118,160,228 (GRCm39) missense probably benign 0.00
R8967:Tmc7 UTSW 7 118,160,228 (GRCm39) missense probably benign 0.00
R9480:Tmc7 UTSW 7 118,141,226 (GRCm39) missense probably benign
R9614:Tmc7 UTSW 7 118,141,160 (GRCm39) missense probably benign 0.01
R9743:Tmc7 UTSW 7 118,150,452 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGCACTTGTGGAGAACAGG -3'
(R):5'- CAGAAACTCTACCCGGTGAG -3'

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