Incidental Mutation 'R1548:Tmem245'
ID 172311
Institutional Source Beutler Lab
Gene Symbol Tmem245
Ensembl Gene ENSMUSG00000055296
Gene Name transmembrane protein 245
Synonyms D730040F13Rik, A630051L19Rik
MMRRC Submission 039587-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R1548 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56906233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 160 (Y160*)
Ref Sequence ENSEMBL: ENSMUSP00000117449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect probably null
Transcript: ENSMUST00000068792
AA Change: Y565*
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: Y565*

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 null
Transcript: ENSMUST00000107609
AA Change: Y557*
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: Y557*

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 noncoding transcript
Transcript: ENSMUST00000125082
Predicted Effect probably null
Transcript: ENSMUST00000132816
AA Change: Y160*
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: Y160*

DomainStartEndE-ValueType
transmembrane domain 52 74 N/A INTRINSIC
Pfam:UPF0118 182 433 4.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155625
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,588,818 (GRCm39) R78S probably damaging Het
Acad10 G C 5: 121,764,104 (GRCm39) probably benign Het
Acad10 G T 5: 121,764,103 (GRCm39) probably benign Het
Ang2 C A 14: 51,432,990 (GRCm39) E131* probably null Het
Ankfn1 T C 11: 89,417,367 (GRCm39) N82D probably damaging Het
Anks1b T C 10: 89,885,847 (GRCm39) I181T possibly damaging Het
Bcl2l12 C G 7: 44,642,242 (GRCm39) G215R probably damaging Het
Bnc2 A G 4: 84,194,194 (GRCm39) Y1044H probably damaging Het
Cacna1s T C 1: 136,038,675 (GRCm39) F1172S probably damaging Het
Cct8 A G 16: 87,282,472 (GRCm39) I482T probably damaging Het
Cfap74 C T 4: 155,518,502 (GRCm39) T580I probably benign Het
Cib1 A T 7: 79,878,162 (GRCm39) Y105* probably null Het
Cpa1 G A 6: 30,642,334 (GRCm39) G245D probably damaging Het
Csmd3 A G 15: 47,845,371 (GRCm39) V801A possibly damaging Het
Ddx10 T C 9: 53,060,861 (GRCm39) probably null Het
Ddx4 T C 13: 112,736,531 (GRCm39) N613S probably damaging Het
Drd3 A G 16: 43,641,704 (GRCm39) D340G probably benign Het
E2f4 A G 8: 106,031,320 (GRCm39) *411W probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Foxp1 A T 6: 98,922,381 (GRCm39) I450N probably damaging Het
Ftdc1 A T 16: 58,436,202 (GRCm39) D40E probably benign Het
Gpr19 A G 6: 134,847,047 (GRCm39) F175S possibly damaging Het
Gpr21 C T 2: 37,408,084 (GRCm39) T210M probably damaging Het
Grhl2 C T 15: 37,336,567 (GRCm39) A488V probably benign Het
Hif3a T C 7: 16,778,328 (GRCm39) T435A probably benign Het
Hoxb4 C T 11: 96,209,725 (GRCm39) R44* probably null Het
Ifi47 A G 11: 48,986,698 (GRCm39) D155G probably damaging Het
Igdcc4 T C 9: 65,042,509 (GRCm39) L142P probably benign Het
Ints6 G A 14: 62,951,141 (GRCm39) P296L probably damaging Het
Itga3 A G 11: 94,937,745 (GRCm39) probably null Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Krtap20-1 G A 16: 88,812,277 (GRCm39) probably benign Het
Lgals12 A T 19: 7,581,677 (GRCm39) H50Q probably benign Het
Lrp12 A G 15: 39,735,902 (GRCm39) S696P probably damaging Het
Lrp6 G A 6: 134,436,392 (GRCm39) T1258I possibly damaging Het
Meis2 C T 2: 115,889,183 (GRCm39) D190N probably damaging Het
Mir100hg T C 9: 41,492,672 (GRCm39) L116P probably damaging Het
Mon2 C T 10: 122,871,912 (GRCm39) probably benign Het
Muc6 A G 7: 141,238,368 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo15a A G 11: 60,379,064 (GRCm39) H1394R probably damaging Het
Myo5a A T 9: 75,079,028 (GRCm39) I929F probably damaging Het
Nek6 T A 2: 38,458,907 (GRCm39) Y141N probably damaging Het
Notch4 T A 17: 34,787,396 (GRCm39) C319S probably damaging Het
Nwd2 A T 5: 63,957,525 (GRCm39) D285V probably benign Het
Olfml1 T C 7: 107,189,582 (GRCm39) S216P possibly damaging Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Pfkfb2 G T 1: 130,625,820 (GRCm39) H453Q probably benign Het
Pigt C T 2: 164,343,439 (GRCm39) T305I probably benign Het
Plxnb1 C T 9: 108,929,968 (GRCm39) L275F possibly damaging Het
Ppm1d C T 11: 85,230,431 (GRCm39) R350C probably damaging Het
Prss1l G T 6: 41,372,945 (GRCm39) L72F probably damaging Het
Rassf1 C A 9: 107,429,045 (GRCm39) P84T probably benign Het
Rgl3 G T 9: 21,892,002 (GRCm39) R361S probably benign Het
Rnf213 G A 11: 119,333,533 (GRCm39) R2914H probably damaging Het
Ryr2 A T 13: 11,569,435 (GRCm39) C4956* probably null Het
Scaper C T 9: 55,723,954 (GRCm39) R668H probably damaging Het
Spata6 T C 4: 111,636,203 (GRCm39) F165L probably benign Het
Tcirg1 A T 19: 3,946,845 (GRCm39) W694R probably benign Het
Tshr T C 12: 91,500,805 (GRCm39) Y279H probably damaging Het
Ttf1 A C 2: 28,955,150 (GRCm39) K171N probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Xdh A G 17: 74,220,896 (GRCm39) V611A probably damaging Het
Zfp142 G T 1: 74,609,263 (GRCm39) H1408N 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
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
R8306:Tmem245 UTSW 4 56,886,037 (GRCm39) missense probably damaging 0.96
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'- TCACTGCTGGAATGGGAAGTGAAAC -3'
(R):5'- TTGTACCCTGAGACCCAGGAAGAG -3'

Sequencing Primer
(F):5'- acacacccattccaaccag -3'
(R):5'- GAATTTACTGGAACATGGAGGC -3'
Posted On 2014-04-13