Incidental Mutation 'R6332:Tmc4'
ID513167
Institutional Source Beutler Lab
Gene Symbol Tmc4
Ensembl Gene ENSMUSG00000019734
Gene Nametransmembrane channel-like gene family 4
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R6332 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location3665790-3677553 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 3677422 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038608] [ENSMUST00000038743] [ENSMUST00000038743] [ENSMUST00000121743] [ENSMUST00000127106] [ENSMUST00000128364]
Predicted Effect probably benign
Transcript: ENSMUST00000038608
SMART Domains Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:MBOAT 57 420 2.4e-37 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000038743
SMART Domains Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734

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 null
Transcript: ENSMUST00000038743
SMART Domains Protein: ENSMUSP00000043853
Gene: ENSMUSG00000019734

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
SMART Domains Protein: ENSMUSP00000112541
Gene: ENSMUSG00000019734

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 probably benign
Transcript: ENSMUST00000127106
SMART Domains Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128364
SMART Domains Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
low complexity region 58 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133223
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148313
Meta Mutation Damage Score 0.9486 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik C A 7: 42,446,243 G194C possibly damaging Het
Adamtsl1 A G 4: 86,217,011 K258E probably damaging Het
Afdn A T 17: 13,810,445 D206V possibly damaging Het
Agt G T 8: 124,557,833 Q389K possibly damaging Het
Ankrd44 A T 1: 54,762,273 D298E probably damaging Het
Anks1 A G 17: 28,052,735 S897G probably benign Het
Apol9b A G 15: 77,735,546 probably null Het
Baz1a T C 12: 54,918,554 E705G probably benign Het
BC048679 C T 7: 81,495,218 V126M probably benign Het
Cep295 A G 9: 15,334,914 F749L possibly damaging Het
Cntrl T A 2: 35,128,024 I482K possibly damaging Het
Col6a3 A G 1: 90,822,233 F293S probably damaging Het
Dnah12 T G 14: 26,717,974 M527R probably damaging Het
Dnhd1 G A 7: 105,694,066 R1539H probably benign Het
Ece1 A G 4: 137,958,008 Y603C probably damaging Het
Eea1 G A 10: 96,041,473 A1350T possibly damaging Het
Exoc3l4 A T 12: 111,427,968 K507N possibly damaging Het
Fam126b T A 1: 58,529,875 Y515F probably damaging Het
Fam35a A G 14: 34,268,172 V259A probably benign Het
Flt3l A T 7: 45,133,667 probably null Het
Fn1 T C 1: 71,628,071 Q834R probably benign Het
Haus5 C T 7: 30,658,976 W298* probably null Het
Ifih1 T C 2: 62,639,483 N157D possibly damaging Het
Itga2 A C 13: 114,843,473 M1064R probably benign Het
Itgae A G 11: 73,111,402 probably null Het
Krtap10-4 T C 10: 77,827,049 probably benign Het
Lamp3 A G 16: 19,699,681 C269R probably damaging Het
Lrp5 T C 19: 3,659,355 D125G probably damaging Het
Matn2 A C 15: 34,423,755 E586D probably benign Het
Mef2b T A 8: 70,164,139 probably null Het
Mrps22 A G 9: 98,601,471 probably null Het
Mtmr2 T C 9: 13,800,029 F445L probably damaging Het
Nxph4 A G 10: 127,526,368 V218A probably damaging Het
Olfr1308 C T 2: 111,960,746 G109D probably damaging Het
Olfr382 A G 11: 73,517,175 V8A probably benign Het
Olfr639 A G 7: 104,011,773 S310P probably benign Het
Pdpk1 A T 17: 24,106,922 V100D probably damaging Het
Phldb2 A C 16: 45,774,246 S899A probably benign Het
Pnpla3 G A 15: 84,172,782 probably null Het
Rasal2 A G 1: 157,299,187 Y94H probably damaging Het
Rlf A T 4: 121,148,822 I987N possibly damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rprd2 A G 3: 95,780,441 Y300H probably damaging Het
Setbp1 G A 18: 78,783,369 S1343L probably benign Het
Sfswap A G 5: 129,571,041 K938E possibly damaging Het
Slc3a1 A C 17: 85,028,432 M1L probably damaging Het
Slco5a1 C T 1: 12,921,185 V427I probably benign Het
Ssbp2 A T 13: 91,690,908 M300L probably benign Het
Ssc5d A G 7: 4,937,522 D878G probably damaging Het
Stk19 A G 17: 34,824,598 L212P probably damaging Het
Stk39 T C 2: 68,410,043 M115V possibly damaging Het
Syt17 A C 7: 118,434,243 S181A probably benign Het
Taar7b A T 10: 23,999,951 N5Y probably benign Het
Tmem248 T A 5: 130,229,469 M1K probably null Het
Tmem82 T A 4: 141,616,410 Q183L probably damaging Het
Tpd52l1 T C 10: 31,338,207 E142G probably damaging Het
Ttll2 A T 17: 7,351,768 H253Q probably damaging Het
Ttn T C 2: 76,857,464 probably benign Het
Ubd A G 17: 37,195,501 K93E probably benign Het
Ugt2b35 T A 5: 87,001,556 F222Y probably damaging Het
Vmn2r10 G T 5: 109,003,462 N95K probably damaging Het
Vwa8 T C 14: 79,197,464 V1775A probably benign Het
Zdbf2 A G 1: 63,307,822 K1787E possibly damaging Het
Zfp26 A T 9: 20,437,286 F661I probably damaging Het
Zfp735 A T 11: 73,711,678 K483* probably null Het
Zfp946 A G 17: 22,454,538 E91G probably damaging Het
Zic5 C A 14: 122,459,749 D485Y unknown Het
Zmynd8 A T 2: 165,838,852 D236E probably damaging Het
Other mutations in Tmc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Tmc4 APN 7 3675518 missense possibly damaging 0.85
IGL01661:Tmc4 APN 7 3666927 missense probably damaging 0.97
IGL02163:Tmc4 APN 7 3666825 missense probably damaging 0.98
IGL03149:Tmc4 APN 7 3667178 missense probably benign 0.00
R0233:Tmc4 UTSW 7 3666867 missense probably benign
R0233:Tmc4 UTSW 7 3666867 missense probably benign
R0483:Tmc4 UTSW 7 3667610 missense probably damaging 0.98
R2406:Tmc4 UTSW 7 3671026 missense probably benign 0.00
R3834:Tmc4 UTSW 7 3672007 missense probably benign 0.00
R3897:Tmc4 UTSW 7 3671088 missense probably benign 0.43
R4434:Tmc4 UTSW 7 3672007 missense probably benign 0.00
R4664:Tmc4 UTSW 7 3671271 splice site probably null
R4666:Tmc4 UTSW 7 3671271 splice site probably null
R5764:Tmc4 UTSW 7 3672023 missense probably damaging 0.98
R5914:Tmc4 UTSW 7 3672009 missense probably benign 0.03
R6077:Tmc4 UTSW 7 3667527 missense probably damaging 1.00
R6090:Tmc4 UTSW 7 3671053 missense probably damaging 1.00
R6362:Tmc4 UTSW 7 3675459 missense probably benign 0.00
R6616:Tmc4 UTSW 7 3671058 missense possibly damaging 0.87
R7317:Tmc4 UTSW 7 3669919 missense probably benign 0.18
R7696:Tmc4 UTSW 7 3669575 missense probably damaging 0.98
X0022:Tmc4 UTSW 7 3671041 missense possibly damaging 0.92
X0028:Tmc4 UTSW 7 3675016 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATCCTGGCTCCTCACAAGC -3'
(R):5'- TAGGAAATGTACCGCAGTCACC -3'

Sequencing Primer
(F):5'- AAGCCTGATATTAGGGACCCGTTTC -3'
(R):5'- AGTCACCCGGGTCACCTAG -3'
Posted On2018-04-27