Incidental Mutation 'R8306:Tmem245'
ID 641053
Institutional Source Beutler Lab
Gene Symbol Tmem245
Ensembl Gene ENSMUSG00000055296
Gene Name transmembrane protein 245
Synonyms D730040F13Rik, A630051L19Rik
MMRRC Submission 067792-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R8306 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 56886037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 860 (W860G)
Ref Sequence ENSEMBL: ENSMUSP00000103234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect possibly damaging
Transcript: ENSMUST00000068792
AA Change: W856G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: W856G

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 235 252 N/A INTRINSIC
low complexity region 309 330 N/A INTRINSIC
transmembrane domain 351 373 N/A INTRINSIC
transmembrane domain 457 479 N/A INTRINSIC
Pfam:UPF0118 589 838 1.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107609
AA Change: W860G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: W860G

DomainStartEndE-ValueType
low complexity region 4 25 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 109 131 N/A INTRINSIC
transmembrane domain 144 166 N/A INTRINSIC
transmembrane domain 181 203 N/A INTRINSIC
transmembrane domain 212 231 N/A INTRINSIC
transmembrane domain 235 252 N/A INTRINSIC
low complexity region 309 330 N/A INTRINSIC
transmembrane domain 351 373 N/A INTRINSIC
transmembrane domain 449 471 N/A INTRINSIC
Pfam:UPF0118 585 842 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132816
AA Change: W451G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: W451G

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Pfam:UPF0118 182 433 4.5e-14 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,302,194 (GRCm39) V158F probably damaging Het
Abtb3 T A 10: 85,434,409 (GRCm39) C22* probably null Het
Adam1b T C 5: 121,641,212 (GRCm39) probably benign Het
Ambn G A 5: 88,607,281 (GRCm39) E50K possibly damaging Het
Ash1l A G 3: 88,873,259 (GRCm39) D14G probably benign Het
Asphd1 C T 7: 126,547,784 (GRCm39) R173H probably damaging Het
Atr A T 9: 95,802,423 (GRCm39) T1772S Het
Best3 T C 10: 116,838,515 (GRCm39) L191P probably damaging Het
Bola1 A T 3: 96,104,517 (GRCm39) S26T probably benign Het
Borcs6 T C 11: 68,950,646 (GRCm39) L8P probably benign Het
Brca1 T G 11: 101,416,463 (GRCm39) Q557P probably damaging Het
Brca2 G A 5: 150,460,128 (GRCm39) E468K possibly damaging Het
Capza2 T A 6: 17,637,131 (GRCm39) L4Q probably benign Het
Cc2d2b T A 19: 40,804,228 (GRCm39) Y918* probably null Het
Ccdc163 T C 4: 116,567,472 (GRCm39) L67P probably damaging Het
Ccdc172 C A 19: 58,525,022 (GRCm39) Q160K probably damaging Het
Ccp110 T A 7: 118,321,903 (GRCm39) D519E probably benign Het
Cd300ld2 T C 11: 114,904,648 (GRCm39) Q73R probably benign Het
Cfap46 T A 7: 139,236,496 (GRCm39) D608V Het
Cfap69 T G 5: 5,654,287 (GRCm39) Y549S probably benign Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Clu A C 14: 66,217,211 (GRCm39) Q348P probably damaging Het
Cnot1 A T 8: 96,473,649 (GRCm39) N1153K probably benign Het
Col2a1 T C 15: 97,888,849 (GRCm39) probably null Het
Col6a6 A T 9: 105,661,272 (GRCm39) I279N probably damaging Het
Dop1a A G 9: 86,402,259 (GRCm39) D1153G possibly damaging Het
Dpyd A G 3: 119,205,822 (GRCm39) K888E probably benign Het
Eif2ak4 T C 2: 118,287,656 (GRCm39) I1208T possibly damaging Het
Epha1 T C 6: 42,335,722 (GRCm39) I972V probably damaging Het
Fam13c C T 10: 70,388,983 (GRCm39) T503I probably benign Het
Fbxo43 T A 15: 36,162,013 (GRCm39) Q398L probably benign Het
Fbxo44 A G 4: 148,243,089 (GRCm39) I57T probably benign Het
Flnc T C 6: 29,449,369 (GRCm39) I1422T probably benign Het
Flrt2 T C 12: 95,746,076 (GRCm39) L138P probably damaging Het
Frem3 A G 8: 81,338,840 (GRCm39) K378E possibly damaging Het
Ganc T A 2: 120,252,560 (GRCm39) D128E probably benign Het
Gm19965 T C 1: 116,749,515 (GRCm39) S399P Het
H2-Q1 A T 17: 35,539,997 (GRCm39) K89* probably null Het
H2-Q2 A T 17: 35,561,301 (GRCm39) probably benign Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Homer2 T A 7: 81,274,014 (GRCm39) S125C possibly damaging Het
Hormad2 T C 11: 4,358,714 (GRCm39) K231R probably benign Het
Kif17 A C 4: 138,005,220 (GRCm39) K262Q probably damaging Het
Kif20a G A 18: 34,761,444 (GRCm39) S279N probably benign Het
Lrp12 T C 15: 39,741,450 (GRCm39) N441D probably damaging Het
Lta4h G T 10: 93,318,126 (GRCm39) L515F possibly damaging Het
Mavs T C 2: 131,088,470 (GRCm39) S425P probably benign Het
Mcat A C 15: 83,439,592 (GRCm39) D99E probably damaging Het
Nav2 C A 7: 49,195,765 (GRCm39) T1047K probably benign Het
Neb T A 2: 52,099,657 (GRCm39) Y4731F probably damaging Het
Nectin4 G C 1: 171,211,325 (GRCm39) R283P probably null Het
Notch3 G A 17: 32,377,086 (GRCm39) T273I probably damaging Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or5i1 A T 2: 87,613,830 (GRCm39) *317C probably null Het
Or6b2b T G 1: 92,419,247 (GRCm39) I77L possibly damaging Het
Or6z7 T A 7: 6,483,868 (GRCm39) I96F possibly damaging Het
Pcdha12 A T 18: 37,155,638 (GRCm39) T786S probably benign Het
Pde9a A G 17: 31,692,186 (GRCm39) K520E probably benign Het
Piezo2 A C 18: 63,208,801 (GRCm39) L1404R probably damaging Het
Rrbp1 T C 2: 143,792,416 (GRCm39) S1321G probably benign Het
Rtkn T C 6: 83,128,897 (GRCm39) V464A probably damaging Het
Rtn4rl1 T C 11: 75,156,147 (GRCm39) F193S probably damaging Het
Samd4 G A 14: 47,122,374 (GRCm39) V33I probably damaging Het
Scn5a A G 9: 119,350,357 (GRCm39) L839P probably damaging Het
Slc6a17 C A 3: 107,380,985 (GRCm39) V507L probably benign Het
Stradb C A 1: 59,030,356 (GRCm39) N203K unknown Het
Tenm2 T C 11: 35,960,196 (GRCm39) T1044A possibly damaging Het
Tpst2 G A 5: 112,455,803 (GRCm39) R114H probably damaging Het
Trappc10 C T 10: 78,036,460 (GRCm39) D920N possibly damaging Het
Vmn1r59 T A 7: 5,456,966 (GRCm39) I265L probably benign Het
Zbtb20 A C 16: 43,439,100 (GRCm39) D667A probably damaging Het
Zbtb4 T A 11: 69,668,309 (GRCm39) I344N probably damaging Het
Zdbf2 T A 1: 63,343,234 (GRCm39) C538S possibly damaging Het
Zmym6 A T 4: 127,016,355 (GRCm39) H712L probably damaging Het
Other mutations in Tmem245
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02472:Tmem245 APN 4 56,899,119 (GRCm39) missense probably damaging 1.00
IGL02668:Tmem245 APN 4 56,925,081 (GRCm39) missense possibly damaging 0.86
IGL03093:Tmem245 APN 4 56,886,019 (GRCm39) missense probably damaging 1.00
Integral UTSW 4 56,899,170 (GRCm39) missense possibly damaging 0.79
leibniz UTSW 4 56,916,770 (GRCm39) missense probably benign 0.02
R0090:Tmem245 UTSW 4 56,899,410 (GRCm39) missense probably benign
R0116:Tmem245 UTSW 4 56,926,213 (GRCm39) missense probably benign 0.00
R0648:Tmem245 UTSW 4 56,906,270 (GRCm39) missense probably benign 0.38
R0864:Tmem245 UTSW 4 56,890,837 (GRCm39) missense probably damaging 1.00
R1102:Tmem245 UTSW 4 56,903,200 (GRCm39) intron probably benign
R1548:Tmem245 UTSW 4 56,906,233 (GRCm39) nonsense probably null
R1778:Tmem245 UTSW 4 56,903,968 (GRCm39) missense probably damaging 1.00
R1840:Tmem245 UTSW 4 56,903,947 (GRCm39) missense probably benign 0.03
R1942:Tmem245 UTSW 4 56,923,511 (GRCm39) unclassified probably benign
R1969:Tmem245 UTSW 4 56,937,964 (GRCm39) missense probably benign 0.01
R2341:Tmem245 UTSW 4 56,937,957 (GRCm39) missense probably damaging 1.00
R2364:Tmem245 UTSW 4 56,899,391 (GRCm39) missense probably damaging 0.96
R3848:Tmem245 UTSW 4 56,926,298 (GRCm39) unclassified probably benign
R4591:Tmem245 UTSW 4 56,910,204 (GRCm39) missense probably damaging 0.99
R4772:Tmem245 UTSW 4 56,937,989 (GRCm39) splice site probably null
R4779:Tmem245 UTSW 4 56,936,468 (GRCm39) missense possibly damaging 0.65
R4860:Tmem245 UTSW 4 56,899,164 (GRCm39) missense probably damaging 1.00
R4860:Tmem245 UTSW 4 56,899,164 (GRCm39) missense probably damaging 1.00
R5049:Tmem245 UTSW 4 56,925,057 (GRCm39) missense probably benign 0.12
R5061:Tmem245 UTSW 4 56,946,945 (GRCm39) missense possibly damaging 0.94
R5199:Tmem245 UTSW 4 56,925,149 (GRCm39) missense probably benign 0.12
R5377:Tmem245 UTSW 4 56,947,084 (GRCm39) missense probably damaging 0.99
R5547:Tmem245 UTSW 4 56,910,156 (GRCm39) critical splice donor site probably null
R5846:Tmem245 UTSW 4 56,903,241 (GRCm39) missense probably benign 0.00
R5851:Tmem245 UTSW 4 56,916,770 (GRCm39) missense probably benign 0.02
R5991:Tmem245 UTSW 4 56,916,733 (GRCm39) missense probably damaging 1.00
R6314:Tmem245 UTSW 4 56,888,592 (GRCm39) missense possibly damaging 0.88
R6992:Tmem245 UTSW 4 56,937,940 (GRCm39) missense probably benign 0.03
R7172:Tmem245 UTSW 4 56,903,946 (GRCm39) missense possibly damaging 0.65
R7632:Tmem245 UTSW 4 56,916,787 (GRCm39) missense probably benign 0.00
R7660:Tmem245 UTSW 4 56,899,170 (GRCm39) missense possibly damaging 0.79
R7672:Tmem245 UTSW 4 56,947,069 (GRCm39) missense probably benign
R7735:Tmem245 UTSW 4 56,925,155 (GRCm39) missense probably benign 0.22
R7900:Tmem245 UTSW 4 56,924,973 (GRCm39) splice site probably null
R8280:Tmem245 UTSW 4 56,890,884 (GRCm39) missense possibly damaging 0.89
R8446:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8447:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8491:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8524:Tmem245 UTSW 4 56,906,261 (GRCm39) missense probably benign 0.24
R8750:Tmem245 UTSW 4 56,886,141 (GRCm39) missense probably damaging 1.00
R8756:Tmem245 UTSW 4 56,899,025 (GRCm39) critical splice donor site probably null
R8899:Tmem245 UTSW 4 56,903,916 (GRCm39) critical splice donor site probably null
R9035:Tmem245 UTSW 4 56,922,384 (GRCm39) intron probably benign
R9267:Tmem245 UTSW 4 56,947,236 (GRCm39) missense probably benign 0.03
R9292:Tmem245 UTSW 4 56,926,173 (GRCm39) unclassified probably benign
R9292:Tmem245 UTSW 4 56,937,979 (GRCm39) missense probably benign 0.07
R9667:Tmem245 UTSW 4 56,947,119 (GRCm39) missense probably damaging 0.98
Z1189:Tmem245 UTSW 4 56,937,901 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTATTCTGAAGTGACTGCAG -3'
(R):5'- TTTTGTTCCAGAGGAGGCCAC -3'

Sequencing Primer
(F):5'- CTGCAGTCAGGATATCAATAGGC -3'
(R):5'- CCCCTACCTGACCGGCTTAG -3'
Posted On 2020-07-28