Incidental Mutation 'R5846:Tmem245'
ID 453602
Institutional Source Beutler Lab
Gene Symbol Tmem245
Ensembl Gene ENSMUSG00000055296
Gene Name transmembrane protein 245
Synonyms D730040F13Rik, A630051L19Rik
MMRRC Submission 044064-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R5846 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 56866923-56947437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56903241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 610 (S610T)
Ref Sequence ENSEMBL: ENSMUSP00000103234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]
AlphaFold B1AZA5
Predicted Effect probably benign
Transcript: ENSMUST00000068792
SMART Domains Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296

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 benign
Transcript: ENSMUST00000107609
AA Change: S610T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: S610T

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 benign
Transcript: ENSMUST00000132816
SMART Domains Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 97% (67/69)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,562,377 (GRCm39) S335P unknown Het
Ace3 A T 11: 105,889,188 (GRCm39) I473F probably benign Het
Adcy2 T A 13: 68,886,707 (GRCm39) N281Y probably damaging Het
Adgra1 T A 7: 139,455,196 (GRCm39) W275R probably damaging Het
Apmap T C 2: 150,450,341 (GRCm39) D20G probably damaging Het
Arap2 T C 5: 62,807,116 (GRCm39) T1184A probably damaging Het
Atp13a2 T C 4: 140,722,907 (GRCm39) V303A possibly damaging Het
BC004004 A T 17: 29,501,282 (GRCm39) probably benign Het
C1s1 G A 6: 124,517,912 (GRCm39) P23S possibly damaging Het
C1s2 T A 6: 124,608,123 (GRCm39) N197Y probably damaging Het
Camsap3 A G 8: 3,653,980 (GRCm39) H539R probably damaging Het
Catsperb A T 12: 101,569,025 (GRCm39) N899I probably damaging Het
Cct4 T C 11: 22,951,354 (GRCm39) probably benign Het
Chrm2 A T 6: 36,500,385 (GRCm39) T81S probably damaging Het
Dnaaf3 A T 7: 4,526,686 (GRCm39) S464T possibly damaging Het
Dnah10 T A 5: 124,900,437 (GRCm39) I3898N possibly damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dnajc13 T C 9: 104,067,584 (GRCm39) K1187E probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Dst C T 1: 34,234,942 (GRCm39) Q3674* probably null Het
Eef1a2 T C 2: 180,794,776 (GRCm39) Y141C probably damaging Het
Fads3 G T 19: 10,030,397 (GRCm39) Q178H probably null Het
Fbxw22 T A 9: 109,215,829 (GRCm39) M140L probably benign Het
Fndc7 A G 3: 108,788,707 (GRCm39) I178T probably damaging Het
Foxd1 T C 13: 98,491,549 (GRCm39) M141T probably damaging Het
H4c2 T C 13: 23,941,215 (GRCm39) V71A possibly damaging Het
Havcr2 T C 11: 46,360,343 (GRCm39) I141T probably benign Het
Hectd1 A C 12: 51,820,618 (GRCm39) N1190K probably damaging Het
Hook3 T A 8: 26,534,355 (GRCm39) probably benign Het
Hpgd T A 8: 56,760,702 (GRCm39) I133N possibly damaging Het
Itih2 T C 2: 10,102,714 (GRCm39) R807G probably benign Het
Klhl35 G A 7: 99,122,094 (GRCm39) G65D probably damaging Het
Lrch4 C G 5: 137,631,919 (GRCm39) C48W probably damaging Het
Mafa A G 15: 75,619,627 (GRCm39) S49P probably benign Het
Magi1 A G 6: 93,662,584 (GRCm39) V1170A probably damaging Het
Mprip A T 11: 59,649,380 (GRCm39) K1028M probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Numb G T 12: 83,923,521 (GRCm39) probably benign Het
Obscn A G 11: 58,929,435 (GRCm39) L6063P probably damaging Het
Or2y6 A G 11: 52,103,881 (GRCm39) *312Q probably null Het
Or6c6c A T 10: 129,540,756 (GRCm39) N3I probably damaging Het
P3h3 A T 6: 124,834,157 (GRCm39) probably null Het
Pi4k2a A G 19: 42,103,477 (GRCm39) D329G probably benign Het
Ptch1 T C 13: 63,713,268 (GRCm39) probably benign Het
Samd9l A G 6: 3,376,754 (GRCm39) V169A probably benign Het
Sdk1 T C 5: 142,100,148 (GRCm39) Y1393H probably damaging Het
Slc18a3 T A 14: 32,185,880 (GRCm39) M168L probably benign Het
Smurf1 T C 5: 144,816,190 (GRCm39) T722A probably damaging Het
Ssr2 C T 3: 88,488,379 (GRCm39) P85L probably damaging Het
Syne2 G T 12: 76,074,898 (GRCm39) A4614S probably benign Het
Tgfbr3 C A 5: 107,288,521 (GRCm39) G380V possibly damaging Het
Tk1 G T 11: 117,706,748 (GRCm39) probably benign Het
Tmtc2 A G 10: 105,107,302 (GRCm39) probably benign Het
Trim30b A G 7: 104,006,578 (GRCm39) Y93H possibly damaging Het
Tsks A G 7: 44,593,412 (GRCm39) D126G probably damaging Het
Ttn T A 2: 76,733,812 (GRCm39) probably benign Het
Usp15 A G 10: 123,017,647 (GRCm39) W50R probably damaging Het
Vmn2r55 A T 7: 12,404,492 (GRCm39) F304I probably benign Het
Xirp2 T A 2: 67,339,587 (GRCm39) D609E probably damaging Het
Zan C T 5: 137,392,638 (GRCm39) probably null 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
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'- TCACGAAAATGAGAACCACTGG -3'
(R):5'- AGGTCTAAGGAATTCAGGCTG -3'

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