Incidental Mutation 'R0233:Tmc4'
ID 58887
Institutional Source Beutler Lab
Gene Symbol Tmc4
Ensembl Gene ENSMUSG00000019734
Gene Name transmembrane channel-like gene family 4
Synonyms
MMRRC Submission 038474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0233 (G1)
Quality Score 148
Status Not validated
Chromosome 7
Chromosomal Location 3668790-3680522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3669866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 6 (Y6F)
Ref Sequence ENSEMBL: ENSMUSP00000146134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019878] [ENSMUST00000038743] [ENSMUST00000121743] [ENSMUST00000145034]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019878
SMART Domains Protein: ENSMUSP00000019878
Gene: ENSMUSG00000078813

DomainStartEndE-ValueType
Cir_N 8 44 2.43e-9 SMART
low complexity region 94 109 N/A INTRINSIC
low complexity region 171 192 N/A INTRINSIC
coiled coil region 198 222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038743
AA Change: Y630F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734
AA Change: Y630F

DomainStartEndE-ValueType
transmembrane domain 151 173 N/A INTRINSIC
low complexity region 177 191 N/A INTRINSIC
transmembrane domain 232 251 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
transmembrane domain 374 396 N/A INTRINSIC
transmembrane domain 409 431 N/A INTRINSIC
Pfam:TMC 457 567 2.5e-42 PFAM
transmembrane domain 572 594 N/A INTRINSIC
transmembrane domain 637 659 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121743
AA Change: Y563F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734
AA Change: Y563F

DomainStartEndE-ValueType
transmembrane domain 84 106 N/A INTRINSIC
low complexity region 110 124 N/A INTRINSIC
transmembrane domain 165 184 N/A INTRINSIC
transmembrane domain 265 287 N/A INTRINSIC
transmembrane domain 307 329 N/A INTRINSIC
transmembrane domain 342 364 N/A INTRINSIC
Pfam:TMC 390 500 1.4e-40 PFAM
transmembrane domain 505 527 N/A INTRINSIC
transmembrane domain 570 592 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144751
Predicted Effect probably benign
Transcript: ENSMUST00000145034
AA Change: Y6F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148313
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.4%
Validation Efficiency 99% (93/94)
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,385,330 (GRCm39) S212P probably benign Het
A730018C14Rik A C 12: 112,381,864 (GRCm39) noncoding transcript Het
Acsf3 A G 8: 123,507,031 (GRCm39) Y108C probably damaging Het
Acsl1 A G 8: 46,966,606 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,097 (GRCm39) I389N possibly damaging Het
Ankrd27 T C 7: 35,300,985 (GRCm39) L95P probably damaging Het
Ano5 T C 7: 51,185,218 (GRCm39) F46S possibly damaging Het
Ap2a1 T C 7: 44,565,397 (GRCm39) N114S probably damaging Het
Arap1 C T 7: 101,049,448 (GRCm39) S970L possibly damaging Het
Atad3a A T 4: 155,830,524 (GRCm39) S525T probably damaging Het
B4galnt1 T C 10: 127,006,780 (GRCm39) probably benign Het
Bltp1 T A 3: 37,002,712 (GRCm39) C1552* probably null Het
Cacna2d2 A T 9: 107,391,869 (GRCm39) I463F probably damaging Het
Casp6 T A 3: 129,699,624 (GRCm39) N34K probably damaging Het
Ccdc175 A T 12: 72,152,650 (GRCm39) F752I probably benign Het
Cdhr4 A G 9: 107,874,133 (GRCm39) I76V probably benign Het
Copa T C 1: 171,915,234 (GRCm39) probably null Het
Cox11 C T 11: 90,535,326 (GRCm39) T259I probably damaging Het
Cuzd1 C A 7: 130,913,545 (GRCm39) K357N possibly damaging Het
Dnah5 T A 15: 28,333,216 (GRCm39) F2206I probably damaging Het
Dnase2b T A 3: 146,288,305 (GRCm39) K263N probably benign Het
Dync1h1 T A 12: 110,607,414 (GRCm39) D2668E probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Fam124b T C 1: 80,190,703 (GRCm39) S227G probably damaging Het
Fam13b T A 18: 34,581,137 (GRCm39) Y675F probably damaging Het
Fgf21 T A 7: 45,264,721 (GRCm39) M4L probably benign Het
Flg2 T A 3: 93,109,104 (GRCm39) C377* probably null Het
Foxp2 T C 6: 15,409,752 (GRCm39) S451P probably damaging Het
Gli2 A T 1: 118,763,655 (GRCm39) S1499T probably damaging Het
Gm9920 A T 15: 54,975,857 (GRCm39) probably benign Het
Gpx5 T A 13: 21,471,573 (GRCm39) D210V probably damaging Het
H2-T5 A G 17: 36,478,361 (GRCm39) Y224H probably benign Het
Hoxb5 T A 11: 96,195,853 (GRCm39) S234T probably benign Het
Irf9 C A 14: 55,843,551 (GRCm39) N140K probably benign Het
Isg20 C A 7: 78,566,334 (GRCm39) D94E probably damaging Het
Isg20 C T 7: 78,564,243 (GRCm39) T50M probably damaging Het
Izumo1 T C 7: 45,273,592 (GRCm39) L115P probably damaging Het
Kdm3b G A 18: 34,942,473 (GRCm39) E655K probably damaging Het
Kdm5b T G 1: 134,532,372 (GRCm39) probably benign Het
Kifc3 A G 8: 95,828,100 (GRCm39) probably null Het
Kpna2 T C 11: 106,883,457 (GRCm39) S111G probably benign Het
Krt73 A T 15: 101,710,451 (GRCm39) N94K probably benign Het
Lgmn G T 12: 102,366,248 (GRCm39) D247E probably damaging Het
Lilra6 C T 7: 3,917,935 (GRCm39) V70I possibly damaging Het
Lrig3 G A 10: 125,849,395 (GRCm39) probably null Het
Lrrc4 T C 6: 28,829,734 (GRCm39) H627R probably benign Het
Macf1 G A 4: 123,343,920 (GRCm39) probably benign Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nutm2 A G 13: 50,621,441 (GRCm39) D2G probably benign Het
Or10j3b A T 1: 173,043,868 (GRCm39) I217F probably benign Het
Or5h23 A T 16: 58,906,038 (GRCm39) D269E probably benign Het
Or5w8 A G 2: 87,688,096 (GRCm39) I192M probably benign Het
Parl G A 16: 20,106,657 (GRCm39) P184L probably damaging Het
Pdzd8 A T 19: 59,288,811 (GRCm39) M863K probably damaging Het
Phlda3 T C 1: 135,694,559 (GRCm39) S125P probably damaging Het
Pkd1l3 A T 8: 110,377,412 (GRCm39) R217* probably null Het
Plekhg5 T C 4: 152,196,676 (GRCm39) C695R probably damaging Het
Pramel24 A T 4: 143,452,633 (GRCm39) E21D possibly damaging Het
Prg4 T C 1: 150,329,298 (GRCm39) probably benign Het
Prkab1 A G 5: 116,159,711 (GRCm39) probably benign Het
Pyroxd1 A G 6: 142,300,356 (GRCm39) E162G possibly damaging Het
R3hcc1l G A 19: 42,571,360 (GRCm39) probably null Het
Rgs12 T A 5: 35,187,842 (GRCm39) S500T probably damaging Het
Ripor3 T C 2: 167,834,518 (GRCm39) D299G probably damaging Het
Robo4 T C 9: 37,313,977 (GRCm39) L76P probably damaging Het
Sbno1 T C 5: 124,514,289 (GRCm39) Y1302C probably damaging Het
Sec63 A G 10: 42,699,904 (GRCm39) I655V possibly damaging Het
Serpina11 T A 12: 103,946,729 (GRCm39) M389L probably benign Het
Sfswap C A 5: 129,631,607 (GRCm39) P745Q possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slitrk3 C T 3: 72,955,910 (GRCm39) S954N probably benign Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Sos2 A T 12: 69,664,104 (GRCm39) I460N probably benign Het
Spink7 T A 18: 62,727,423 (GRCm39) I34L probably benign Het
Srbd1 A G 17: 86,365,173 (GRCm39) S628P probably damaging Het
Srm G A 4: 148,677,829 (GRCm39) G156S probably damaging Het
Sulf2 T C 2: 165,927,589 (GRCm39) probably benign Het
Tmcc2 A G 1: 132,288,389 (GRCm39) F433L probably damaging Het
Tmprss13 T G 9: 45,248,398 (GRCm39) probably benign Het
Tnxb T C 17: 34,918,007 (GRCm39) F2307L probably benign Het
Tsr3 A G 17: 25,461,484 (GRCm39) E274G probably benign Het
Ttn T C 2: 76,725,488 (GRCm39) probably benign Het
Tub T C 7: 108,628,548 (GRCm39) V352A possibly damaging Het
Tubb2a A G 13: 34,259,325 (GRCm39) I155T possibly damaging Het
Ugt2a2 T C 5: 87,622,860 (GRCm39) N36S probably damaging Het
Usp13 T A 3: 32,969,813 (GRCm39) probably null Het
Vmn1r52 T G 6: 90,156,593 (GRCm39) L120R possibly damaging Het
Vmn2r11 A T 5: 109,201,968 (GRCm39) S179T probably benign Het
Vwf A T 6: 125,663,473 (GRCm39) R2805W possibly damaging Het
Wdr7 A G 18: 64,037,172 (GRCm39) T1199A probably benign Het
Zfp286 T C 11: 62,671,219 (GRCm39) T285A possibly damaging Het
Other mutations in Tmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Tmc4 APN 7 3,678,517 (GRCm39) missense possibly damaging 0.85
IGL01661:Tmc4 APN 7 3,669,926 (GRCm39) missense probably damaging 0.97
IGL02163:Tmc4 APN 7 3,669,824 (GRCm39) missense probably damaging 0.98
IGL03149:Tmc4 APN 7 3,670,177 (GRCm39) missense probably benign 0.00
R0233:Tmc4 UTSW 7 3,669,866 (GRCm39) missense probably benign
R0483:Tmc4 UTSW 7 3,670,609 (GRCm39) missense probably damaging 0.98
R2406:Tmc4 UTSW 7 3,674,025 (GRCm39) missense probably benign 0.00
R3834:Tmc4 UTSW 7 3,675,006 (GRCm39) missense probably benign 0.00
R3897:Tmc4 UTSW 7 3,674,087 (GRCm39) missense probably benign 0.43
R4434:Tmc4 UTSW 7 3,675,006 (GRCm39) missense probably benign 0.00
R4664:Tmc4 UTSW 7 3,674,270 (GRCm39) splice site probably null
R4666:Tmc4 UTSW 7 3,674,270 (GRCm39) splice site probably null
R5764:Tmc4 UTSW 7 3,675,022 (GRCm39) missense probably damaging 0.98
R5914:Tmc4 UTSW 7 3,675,008 (GRCm39) missense probably benign 0.03
R6077:Tmc4 UTSW 7 3,670,526 (GRCm39) missense probably damaging 1.00
R6090:Tmc4 UTSW 7 3,674,052 (GRCm39) missense probably damaging 1.00
R6332:Tmc4 UTSW 7 3,680,421 (GRCm39) critical splice donor site probably null
R6362:Tmc4 UTSW 7 3,678,458 (GRCm39) missense probably benign 0.00
R6616:Tmc4 UTSW 7 3,674,057 (GRCm39) missense possibly damaging 0.87
R7317:Tmc4 UTSW 7 3,672,918 (GRCm39) missense probably benign 0.18
R7696:Tmc4 UTSW 7 3,672,574 (GRCm39) missense probably damaging 0.98
R8291:Tmc4 UTSW 7 3,674,421 (GRCm39) missense probably benign
R8710:Tmc4 UTSW 7 3,678,463 (GRCm39) missense probably benign 0.35
R9214:Tmc4 UTSW 7 3,670,497 (GRCm39) missense probably damaging 1.00
R9273:Tmc4 UTSW 7 3,670,552 (GRCm39) missense probably damaging 0.98
R9314:Tmc4 UTSW 7 3,679,723 (GRCm39) missense possibly damaging 0.70
X0022:Tmc4 UTSW 7 3,674,040 (GRCm39) missense possibly damaging 0.92
X0028:Tmc4 UTSW 7 3,678,015 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATTTATAGGCATCCCGGCCAGC -3'
(R):5'- TTCCGAGCATCCACGGCAAACTTC -3'

Sequencing Primer
(F):5'- AGCCCCACGTCTCTGTTG -3'
(R):5'- CCTGTAAGTACGAGAGACTTCTG -3'
Posted On 2013-07-11