Incidental Mutation 'R5855:Tmem63c'
ID 454877
Institutional Source Beutler Lab
Gene Symbol Tmem63c
Ensembl Gene ENSMUSG00000034145
Gene Name transmembrane protein 63c
Synonyms 9330187M14Rik
MMRRC Submission 043229-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5855 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 87068114-87136817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 87122500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 433 (D433N)
Ref Sequence ENSEMBL: ENSMUSP00000119872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110187] [ENSMUST00000131878] [ENSMUST00000146292] [ENSMUST00000154801]
AlphaFold Q8CBX0
Predicted Effect probably damaging
Transcript: ENSMUST00000110187
AA Change: D433N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: D433N

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 9.5e-21 PFAM
Pfam:DUF4463 253 323 6.1e-16 PFAM
Pfam:DUF221 341 680 8.9e-89 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000131878
AA Change: D433N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: D433N

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 9.5e-21 PFAM
Pfam:DUF4463 253 323 6.1e-16 PFAM
Pfam:DUF221 341 680 8.9e-89 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146292
AA Change: D433N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: D433N

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 1.6e-20 PFAM
Pfam:PHM7_cyt 253 323 6e-12 PFAM
Pfam:RSN1_7TM 341 680 2.5e-88 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154801
SMART Domains Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 179 1.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220808
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T G 7: 131,026,328 (GRCm39) L57R probably damaging Het
Bmpr1b G A 3: 141,577,146 (GRCm39) T55M possibly damaging Het
Cep350 G A 1: 155,829,508 (GRCm39) T132I probably benign Het
Cops4 A T 5: 100,695,280 (GRCm39) M400L probably benign Het
Cul1 G A 6: 47,500,147 (GRCm39) D653N probably benign Het
Cyp3a13 C G 5: 137,917,318 (GRCm39) L36F probably damaging Het
Dcaf10 T C 4: 45,342,558 (GRCm39) F131L probably benign Het
Dgkh T C 14: 78,861,944 (GRCm39) probably null Het
Igll1 C T 16: 16,678,921 (GRCm39) V130M probably damaging Het
Kif2c C T 4: 117,039,739 (GRCm39) probably benign Het
Klra7 T C 6: 130,195,921 (GRCm39) D262G possibly damaging Het
Lrrc27 T C 7: 138,798,251 (GRCm39) probably benign Het
Maf A G 8: 116,432,531 (GRCm39) S358P probably benign Het
Map1a A G 2: 121,134,155 (GRCm39) D1419G possibly damaging Het
Map3k1 G A 13: 111,892,513 (GRCm39) A914V probably benign Het
Naa25 T G 5: 121,561,755 (GRCm39) L436R possibly damaging Het
Ndc1 T C 4: 107,240,904 (GRCm39) I294T probably damaging Het
Nek1 A C 8: 61,469,306 (GRCm39) D121A probably damaging Het
Nfil3 C T 13: 53,122,746 (GRCm39) G53R probably benign Het
Or10h28 T C 17: 33,488,310 (GRCm39) V204A possibly damaging Het
Parp14 A T 16: 35,661,297 (GRCm39) Y1550* probably null Het
Patl1 A G 19: 11,898,880 (GRCm39) I192V probably damaging Het
Pax3 G A 1: 78,098,288 (GRCm39) T367I probably damaging Het
Pla2g4a C T 1: 149,755,814 (GRCm39) V208M probably damaging Het
Prdm10 A T 9: 31,248,619 (GRCm39) K347M probably damaging Het
Prkd1 A T 12: 50,439,699 (GRCm39) M376K probably benign Het
Prkg1 C T 19: 30,872,094 (GRCm39) V219I possibly damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Sox4 T C 13: 29,136,979 (GRCm39) E9G probably damaging Het
Spon1 T A 7: 113,628,307 (GRCm39) D354E probably damaging Het
Stat2 T A 10: 128,119,363 (GRCm39) L450H probably damaging Het
Tek T A 4: 94,741,790 (GRCm39) M849K probably damaging Het
Tnpo3 G A 6: 29,589,032 (GRCm39) T106I probably damaging Het
Tns1 G T 1: 73,957,192 (GRCm39) A1674D possibly damaging Het
Trim8 T C 19: 46,503,849 (GRCm39) V467A possibly damaging Het
Trmo T A 4: 46,382,568 (GRCm39) H183L probably benign Het
Trpm1 C A 7: 63,918,710 (GRCm39) C683* probably null Het
Vsig10 T G 5: 117,476,335 (GRCm39) L263R probably damaging Het
Zfp874a A T 13: 67,590,812 (GRCm39) Y291N probably benign Het
Other mutations in Tmem63c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Tmem63c APN 12 87,123,980 (GRCm39) missense probably benign 0.05
IGL00837:Tmem63c APN 12 87,123,971 (GRCm39) missense probably benign
IGL01317:Tmem63c APN 12 87,118,770 (GRCm39) splice site probably benign
IGL01521:Tmem63c APN 12 87,115,918 (GRCm39) missense probably damaging 0.99
IGL01955:Tmem63c APN 12 87,123,982 (GRCm39) missense probably benign 0.00
IGL02007:Tmem63c APN 12 87,119,647 (GRCm39) missense probably damaging 1.00
IGL02891:Tmem63c APN 12 87,118,042 (GRCm39) missense probably benign 0.00
IGL03102:Tmem63c APN 12 87,112,323 (GRCm39) missense probably benign 0.42
IGL03273:Tmem63c APN 12 87,128,576 (GRCm39) missense probably damaging 1.00
R0238:Tmem63c UTSW 12 87,122,413 (GRCm39) missense probably damaging 1.00
R0238:Tmem63c UTSW 12 87,122,413 (GRCm39) missense probably damaging 1.00
R0239:Tmem63c UTSW 12 87,122,413 (GRCm39) missense probably damaging 1.00
R0239:Tmem63c UTSW 12 87,122,413 (GRCm39) missense probably damaging 1.00
R0975:Tmem63c UTSW 12 87,121,843 (GRCm39) splice site probably benign
R2398:Tmem63c UTSW 12 87,103,307 (GRCm39) missense probably damaging 1.00
R4416:Tmem63c UTSW 12 87,128,676 (GRCm39) missense probably benign 0.14
R4721:Tmem63c UTSW 12 87,103,954 (GRCm39) missense possibly damaging 0.70
R4881:Tmem63c UTSW 12 87,133,192 (GRCm39) missense possibly damaging 0.67
R4888:Tmem63c UTSW 12 87,136,139 (GRCm39) missense probably damaging 1.00
R5210:Tmem63c UTSW 12 87,136,172 (GRCm39) missense probably benign 0.10
R5277:Tmem63c UTSW 12 87,104,531 (GRCm39) splice site probably null
R5790:Tmem63c UTSW 12 87,104,410 (GRCm39) missense probably benign 0.10
R5940:Tmem63c UTSW 12 87,121,946 (GRCm39) missense probably benign
R6000:Tmem63c UTSW 12 87,103,971 (GRCm39) missense probably damaging 1.00
R6240:Tmem63c UTSW 12 87,123,179 (GRCm39) missense possibly damaging 0.67
R6268:Tmem63c UTSW 12 87,128,727 (GRCm39) missense probably damaging 1.00
R6749:Tmem63c UTSW 12 87,122,439 (GRCm39) missense probably damaging 1.00
R7380:Tmem63c UTSW 12 87,124,722 (GRCm39) missense probably benign 0.00
R7472:Tmem63c UTSW 12 87,115,932 (GRCm39) missense possibly damaging 0.50
R8057:Tmem63c UTSW 12 87,118,972 (GRCm39) nonsense probably null
R8184:Tmem63c UTSW 12 87,108,328 (GRCm39) missense possibly damaging 0.93
R8350:Tmem63c UTSW 12 87,119,660 (GRCm39) missense probably damaging 1.00
R8499:Tmem63c UTSW 12 87,119,738 (GRCm39) missense probably damaging 1.00
R8750:Tmem63c UTSW 12 87,103,306 (GRCm39) missense probably damaging 1.00
R9138:Tmem63c UTSW 12 87,128,601 (GRCm39) missense probably damaging 1.00
R9566:Tmem63c UTSW 12 87,108,305 (GRCm39) missense possibly damaging 0.88
R9617:Tmem63c UTSW 12 87,103,361 (GRCm39) missense probably benign 0.36
R9779:Tmem63c UTSW 12 87,104,419 (GRCm39) missense probably damaging 0.99
Z1176:Tmem63c UTSW 12 87,103,259 (GRCm39) missense probably benign 0.01
Z1177:Tmem63c UTSW 12 87,124,038 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGGTGTCAAGGAAAGAGCCC -3'
(R):5'- TCTAGCCTGTCCCTGAGATG -3'

Sequencing Primer
(F):5'- GCACACAGGAAAAAGTATTGGTTTC -3'
(R):5'- AGTCATCCTATTTAGAACCCAGG -3'
Posted On 2017-02-10