Incidental Mutation 'R7835:Tmem102'
ID 605930
Institutional Source Beutler Lab
Gene Symbol Tmem102
Ensembl Gene ENSMUSG00000089876
Gene Name transmembrane protein 102
Synonyms Tmem102-ps, Cbap
MMRRC Submission 045889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7835 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69803603-69805624 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69804345 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 267 (V267A)
Ref Sequence ENSEMBL: ENSMUSP00000132164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011285] [ENSMUST00000051025] [ENSMUST00000102585]
AlphaFold Q3UPR7
Predicted Effect probably benign
Transcript: ENSMUST00000011285
SMART Domains Protein: ENSMUSP00000011285
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 172 6.95e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000051025
AA Change: V267A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132164
Gene: ENSMUSG00000089876
AA Change: V267A

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
Mab-21 191 494 3.31e-43 SMART
low complexity region 498 507 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102585
SMART Domains Protein: ENSMUSP00000099645
Gene: ENSMUSG00000042826

DomainStartEndE-ValueType
FGF 69 200 3.43e-66 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T A 7: 79,099,875 (GRCm38) S1465T probably benign Het
Accsl T A 2: 93,865,984 (GRCm38) K90* probably null Het
Adamts3 A T 5: 89,700,440 (GRCm38) D674E possibly damaging Het
Adap2 T A 11: 80,160,231 (GRCm38) V129D probably benign Het
Ank3 A G 10: 69,987,727 (GRCm38) D742G Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
C330021F23Rik A G 8: 3,580,452 (GRCm38) probably benign Het
Cachd1 G T 4: 100,974,153 (GRCm38) probably null Het
Ccne1 G T 7: 38,102,845 (GRCm38) Q133K probably benign Het
Cers3 C T 7: 66,773,639 (GRCm38) H111Y possibly damaging Het
Chst5 A T 8: 111,890,602 (GRCm38) L129M probably damaging Het
Depdc7 A G 2: 104,728,185 (GRCm38) S164P probably benign Het
Dnah10 G A 5: 124,777,234 (GRCm38) A1966T probably damaging Het
Fam208a G T 14: 27,476,643 (GRCm38) G1311C probably damaging Het
Fcgbp T G 7: 28,117,207 (GRCm38) S2365A possibly damaging Het
Ihh A G 1: 74,946,366 (GRCm38) V320A probably damaging Het
Kdm5d T C Y: 900,558 (GRCm38) V201A possibly damaging Het
Kif13b T A 14: 64,767,452 (GRCm38) H1117Q probably benign Het
Lcn8 C A 2: 25,655,296 (GRCm38) probably null Het
Lrp4 T C 2: 91,495,042 (GRCm38) V1404A possibly damaging Het
Lrrc61 A T 6: 48,568,572 (GRCm38) T110S probably benign Het
Mrpl19 G A 6: 81,962,126 (GRCm38) R232C probably damaging Het
Muc5ac G C 7: 141,809,303 (GRCm38) G2117A unknown Het
Mzt1 T C 14: 99,046,003 (GRCm38) T21A probably benign Het
Naip6 G T 13: 100,316,004 (GRCm38) A183E probably benign Het
Neb T C 2: 52,150,577 (GRCm38) D6624G probably benign Het
Nup85 A G 11: 115,570,071 (GRCm38) D183G probably benign Het
Olfm5 A T 7: 104,154,445 (GRCm38) Y195* probably null Het
Olfr828 T A 9: 18,815,809 (GRCm38) M162L probably benign Het
Piezo2 A T 18: 63,082,945 (GRCm38) F1216I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 109,624,195 (GRCm38) probably benign Het
Polr1a T C 6: 71,915,142 (GRCm38) V135A probably benign Het
Ppcdc A G 9: 57,420,276 (GRCm38) S83P probably benign Het
Prss21 A T 17: 23,869,451 (GRCm38) Q130L possibly damaging Het
Rdx T A 9: 52,065,788 (GRCm38) N112K probably damaging Het
Rgs22 A G 15: 36,081,911 (GRCm38) probably null Het
Rps26 C T 10: 128,626,126 (GRCm38) V40I probably benign Het
Runx2 A T 17: 44,608,236 (GRCm38) M405K probably damaging Het
Serinc2 A C 4: 130,275,487 (GRCm38) C4G unknown Het
Sh3rf2 C A 18: 42,111,170 (GRCm38) R266S probably benign Het
Slc38a10 A G 11: 120,116,996 (GRCm38) I386T possibly damaging Het
Stab2 G A 10: 86,872,619 (GRCm38) P1694L probably benign Het
Taf4 G A 2: 179,932,029 (GRCm38) T682M probably damaging Het
Trim65 A G 11: 116,130,929 (GRCm38) L26P probably damaging Het
Vmn1r160 T A 7: 22,871,954 (GRCm38) M244K possibly damaging Het
Vmn1r57 A T 7: 5,221,139 (GRCm38) H221L probably benign Het
Wdr89 C A 12: 75,632,899 (GRCm38) V194F probably damaging Het
Wee1 C A 7: 110,130,878 (GRCm38) Y396* probably null Het
Zfp451 A T 1: 33,772,979 (GRCm38) V885D probably damaging Het
Zfp981 A T 4: 146,537,876 (GRCm38) Q419H probably benign Het
Znfx1 A G 2: 167,039,827 (GRCm38) Y1081H probably damaging Het
Other mutations in Tmem102
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02528:Tmem102 APN 11 69,803,706 (GRCm38) splice site probably null
R1109:Tmem102 UTSW 11 69,804,804 (GRCm38) missense probably damaging 1.00
R1396:Tmem102 UTSW 11 69,804,370 (GRCm38) missense probably damaging 1.00
R1958:Tmem102 UTSW 11 69,804,399 (GRCm38) missense probably benign 0.02
R2138:Tmem102 UTSW 11 69,805,114 (GRCm38) missense probably damaging 1.00
R2422:Tmem102 UTSW 11 69,804,537 (GRCm38) missense probably benign 0.02
R4716:Tmem102 UTSW 11 69,804,196 (GRCm38) missense probably damaging 1.00
R4776:Tmem102 UTSW 11 69,804,802 (GRCm38) missense probably damaging 1.00
R5933:Tmem102 UTSW 11 69,803,680 (GRCm38) missense probably damaging 1.00
R6609:Tmem102 UTSW 11 69,805,114 (GRCm38) missense probably damaging 1.00
R7460:Tmem102 UTSW 11 69,804,123 (GRCm38) missense probably damaging 1.00
R7466:Tmem102 UTSW 11 69,804,885 (GRCm38) missense probably damaging 1.00
R8687:Tmem102 UTSW 11 69,804,615 (GRCm38) missense probably benign 0.00
R9381:Tmem102 UTSW 11 69,804,315 (GRCm38) missense probably benign 0.33
R9650:Tmem102 UTSW 11 69,805,043 (GRCm38) missense probably benign 0.16
Z1186:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1186:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1187:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1187:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1188:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1188:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1189:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1189:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1190:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1190:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1191:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1191:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Z1192:Tmem102 UTSW 11 69,805,101 (GRCm38) missense probably benign
Z1192:Tmem102 UTSW 11 69,805,076 (GRCm38) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- CGATTCAGAGACCAGTGGAC -3'
(R):5'- TCATCTAGTGACCTTTCAGAGTC -3'

Sequencing Primer
(F):5'- AGCCTGTCACGGTCACCAC -3'
(R):5'- GAGTCCCAATCGTCTTATAAGGAC -3'
Posted On 2019-12-20