Incidental Mutation 'R2197:Tmcc3'
ID238434
Institutional Source Beutler Lab
Gene Symbol Tmcc3
Ensembl Gene ENSMUSG00000020023
Gene Nametransmembrane and coiled coil domains 3
Synonyms
MMRRC Submission 040199-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2197 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location94311949-94590956 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94578918 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 161 (S161P)
Ref Sequence ENSEMBL: ENSMUSP00000119496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065060] [ENSMUST00000117460] [ENSMUST00000117929] [ENSMUST00000121471] [ENSMUST00000132743] [ENSMUST00000148823] [ENSMUST00000148910]
Predicted Effect probably damaging
Transcript: ENSMUST00000065060
AA Change: S192P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063264
Gene: ENSMUSG00000020023
AA Change: S192P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 65 465 1.2e-160 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117460
AA Change: S161P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112669
Gene: ENSMUSG00000020023
AA Change: S161P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117929
AA Change: S161P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112401
Gene: ENSMUSG00000020023
AA Change: S161P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121471
AA Change: S161P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113122
Gene: ENSMUSG00000020023
AA Change: S161P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 32 435 1.6e-176 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132743
SMART Domains Protein: ENSMUSP00000119751
Gene: ENSMUSG00000020023

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 47 134 3.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146744
Predicted Effect probably damaging
Transcript: ENSMUST00000148823
AA Change: S161P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119496
Gene: ENSMUSG00000020023
AA Change: S161P

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 85 210 3.6e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148910
SMART Domains Protein: ENSMUSP00000121456
Gene: ENSMUSG00000020023

DomainStartEndE-ValueType
Pfam:Tmemb_cc2 34 76 1.6e-15 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A T 11: 102,769,924 I94F possibly damaging Het
Ankrd50 A T 3: 38,455,592 D875E probably damaging Het
Arf3 T C 15: 98,741,404 N60S probably benign Het
Atxn2 T G 5: 121,806,217 probably null Het
B3gnt8 A T 7: 25,628,948 I268F probably benign Het
Bmp1 T A 14: 70,486,272 D708V possibly damaging Het
C1s2 A G 6: 124,632,110 S163P probably damaging Het
C3 A G 17: 57,219,623 I786T probably benign Het
Cacna2d2 T A 9: 107,527,403 L1138Q probably damaging Het
Cage1 T A 13: 38,023,053 Y272F probably damaging Het
Cd300ld A T 11: 114,984,232 M192K possibly damaging Het
Cdc5l A T 17: 45,407,819 F624I probably benign Het
Cdh8 T A 8: 99,196,265 Q333L probably damaging Het
Ciapin1 T A 8: 94,829,159 K128* probably null Het
Col6a3 T A 1: 90,803,745 E988D probably benign Het
Crip3 A G 17: 46,429,412 E46G probably damaging Het
D5Ertd579e A G 5: 36,614,793 S753P possibly damaging Het
Dock6 T A 9: 21,832,881 D126V probably damaging Het
Dvl3 A G 16: 20,523,756 E153G probably damaging Het
Epas1 A T 17: 86,829,043 M748L probably benign Het
Exoc8 A G 8: 124,895,738 L630P probably damaging Het
Fam227a G A 15: 79,623,467 T454M probably damaging Het
Flnc A T 6: 29,459,135 D2472V probably damaging Het
Galnt4 G A 10: 99,108,647 G78E probably damaging Het
Ghr A T 15: 3,333,474 L172* probably null Het
Gjb5 A T 4: 127,356,270 probably null Het
Gm4981 T A 10: 58,236,336 I19F possibly damaging Het
Hdac5 T C 11: 102,204,514 D427G probably damaging Het
Hsd17b4 G A 18: 50,183,302 probably null Het
Kcnab1 T C 3: 65,109,947 I59T probably benign Het
Kcnh7 A G 2: 62,777,606 Y544H probably damaging Het
Kdm7a A G 6: 39,146,936 S765P probably damaging Het
Lama1 A T 17: 67,752,941 H675L probably benign Het
Lemd3 CCCTCCTCCTCCTCCTCCTCC CCCTCCTCCTCCTCCTCC 10: 120,978,527 probably benign Het
Llgl1 T C 11: 60,710,039 S654P possibly damaging Het
Lvrn G T 18: 46,878,342 M455I probably benign Het
Mfsd12 T A 10: 81,357,734 L46Q probably damaging Het
Mtcl1 A T 17: 66,366,432 M783K probably benign Het
Mthfd1l A T 10: 4,028,399 T420S probably damaging Het
Mybphl T A 3: 108,377,319 I294N probably damaging Het
Olfr1263 G A 2: 90,015,424 G165S probably damaging Het
Olfr1307 T C 2: 111,945,313 T48A possibly damaging Het
Olfr598 T A 7: 103,328,624 L46* probably null Het
Oxa1l A T 14: 54,361,467 Q70L probably benign Het
Pcdhac2 A T 18: 37,146,132 I722F probably damaging Het
Pde4d A G 13: 109,948,390 D460G probably damaging Het
Pth1r CGGG CGGGGGG 9: 110,726,990 probably benign Het
Rab11fip3 A G 17: 26,068,178 S334P probably benign Het
Ror2 C T 13: 53,285,780 probably null Het
Scnn1g G C 7: 121,767,296 W572S probably damaging Het
Skint5 G A 4: 113,940,849 S179L probably damaging Het
Slc22a2 G T 17: 12,599,062 G175V probably damaging Het
Spaca6 G A 17: 17,836,154 probably null Het
Tbc1d30 C T 10: 121,304,407 R207H probably damaging Het
Tdrd5 A G 1: 156,259,865 I829T probably benign Het
Tmem150b A G 7: 4,716,354 V189A probably benign Het
Tmem248 A G 5: 130,231,756 D54G probably benign Het
Trmt1 T A 8: 84,690,858 S121T probably damaging Het
Tyk2 C T 9: 21,115,207 V698M probably damaging Het
Usp17la A G 7: 104,860,712 R175G probably damaging Het
Vav1 A G 17: 57,303,140 N464S probably benign Het
Vmn2r57 T G 7: 41,428,825 probably null Het
Vmn2r78 A G 7: 86,921,327 Y351C probably damaging Het
Other mutations in Tmcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Tmcc3 APN 10 94582285 missense probably damaging 1.00
IGL01455:Tmcc3 APN 10 94586755 missense probably damaging 0.97
IGL02376:Tmcc3 APN 10 94578567 missense possibly damaging 0.85
IGL03073:Tmcc3 APN 10 94578951 missense probably benign 0.40
IGL03348:Tmcc3 APN 10 94579080 missense possibly damaging 0.95
R0131:Tmcc3 UTSW 10 94545575 splice site probably benign
R0360:Tmcc3 UTSW 10 94578545 missense probably benign
R0840:Tmcc3 UTSW 10 94578771 missense probably benign 0.05
R1994:Tmcc3 UTSW 10 94578606 missense possibly damaging 0.95
R1995:Tmcc3 UTSW 10 94578606 missense possibly damaging 0.95
R2184:Tmcc3 UTSW 10 94582306 missense probably damaging 1.00
R2273:Tmcc3 UTSW 10 94578915 missense probably damaging 0.97
R2274:Tmcc3 UTSW 10 94578915 missense probably damaging 0.97
R3763:Tmcc3 UTSW 10 94579317 missense probably benign 0.42
R4690:Tmcc3 UTSW 10 94545557 utr 5 prime probably benign
R4763:Tmcc3 UTSW 10 94579311 missense probably damaging 1.00
R4816:Tmcc3 UTSW 10 94578784 missense possibly damaging 0.89
R5385:Tmcc3 UTSW 10 94579153 missense probably damaging 1.00
R6177:Tmcc3 UTSW 10 94582387 missense probably damaging 0.97
R6636:Tmcc3 UTSW 10 94578424 missense probably benign 0.14
R6898:Tmcc3 UTSW 10 94551172 intron probably null
R7128:Tmcc3 UTSW 10 94430634 start gained probably benign
R7313:Tmcc3 UTSW 10 94430572 start gained probably benign
R7320:Tmcc3 UTSW 10 94578495 missense possibly damaging 0.94
R7456:Tmcc3 UTSW 10 94582312 missense possibly damaging 0.79
R7874:Tmcc3 UTSW 10 94551027 critical splice donor site probably null
R7876:Tmcc3 UTSW 10 94578535 missense probably benign 0.03
R7957:Tmcc3 UTSW 10 94551027 critical splice donor site probably null
R7959:Tmcc3 UTSW 10 94578535 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GCATCAAGCAGGTCTTTGAGAAG -3'
(R):5'- GTTCACGATGGTAGCGCTTC -3'

Sequencing Primer
(F):5'- CTTCAGAAGAAGTTGGAGCAGTATC -3'
(R):5'- TTCCGCCGTAAGCCCTG -3'
Posted On2014-10-02