Incidental Mutation 'R2937:Tmub1'
ID 255050
Institutional Source Beutler Lab
Gene Symbol Tmub1
Ensembl Gene ENSMUSG00000028958
Gene Name transmembrane and ubiquitin-like domain containing 1
Synonyms 2010004O20Rik, Hops
MMRRC Submission 040514-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2937 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24650456-24652852 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 24650922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 261 (*261Q)
Ref Sequence ENSEMBL: ENSMUSP00000110688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030799] [ENSMUST00000030800] [ENSMUST00000080067] [ENSMUST00000115033] [ENSMUST00000115036] [ENSMUST00000115041] [ENSMUST00000123167] [ENSMUST00000115049] [ENSMUST00000127194] [ENSMUST00000115043] [ENSMUST00000115047] [ENSMUST00000144389]
AlphaFold Q9JMG3
Predicted Effect probably null
Transcript: ENSMUST00000030799
AA Change: *246Q
SMART Domains Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958
AA Change: *246Q

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
transmembrane domain 190 212 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000030800
SMART Domains Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 180 194 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Pfam:FAST_1 274 340 7.4e-18 PFAM
Pfam:FAST_2 351 440 5e-20 PFAM
RAP 475 532 3.04e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080067
SMART Domains Protein: ENSMUSP00000078972
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 93 110 N/A INTRINSIC
low complexity region 112 135 N/A INTRINSIC
low complexity region 138 151 N/A INTRINSIC
low complexity region 169 178 N/A INTRINSIC
low complexity region 200 216 N/A INTRINSIC
low complexity region 296 313 N/A INTRINSIC
Pfam:Band_3_cyto 348 616 4.7e-111 PFAM
Pfam:HCO3_cotransp 671 1165 1.7e-217 PFAM
transmembrane domain 1183 1200 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115033
AA Change: *246Q
SMART Domains Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958
AA Change: *246Q

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
transmembrane domain 190 212 N/A INTRINSIC
transmembrane domain 219 241 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115036
AA Change: *261Q
SMART Domains Protein: ENSMUSP00000110688
Gene: ENSMUSG00000028958
AA Change: *261Q

DomainStartEndE-ValueType
transmembrane domain 26 45 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
UBQ 117 186 4.58e-4 SMART
low complexity region 190 206 N/A INTRINSIC
transmembrane domain 207 229 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115041
SMART Domains Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959

DomainStartEndE-ValueType
low complexity region 43 57 N/A INTRINSIC
low complexity region 101 112 N/A INTRINSIC
Pfam:FAST_1 136 204 5.4e-24 PFAM
Pfam:FAST_2 212 303 4.7e-26 PFAM
RAP 338 395 3.04e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132498
Predicted Effect probably benign
Transcript: ENSMUST00000123167
SMART Domains Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
Blast:UBQ 102 122 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115049
SMART Domains Protein: ENSMUSP00000110701
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 84 101 N/A INTRINSIC
low complexity region 103 126 N/A INTRINSIC
low complexity region 129 142 N/A INTRINSIC
low complexity region 160 169 N/A INTRINSIC
low complexity region 191 207 N/A INTRINSIC
low complexity region 287 304 N/A INTRINSIC
Pfam:Band_3_cyto 339 607 7.3e-108 PFAM
Pfam:HCO3_cotransp 661 1156 1e-244 PFAM
transmembrane domain 1174 1191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127194
SMART Domains Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 39 52 N/A INTRINSIC
UBQ 102 171 4.58e-4 SMART
low complexity region 175 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115043
SMART Domains Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 180 194 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
Pfam:FAST_1 273 341 7.6e-24 PFAM
Pfam:FAST_2 349 440 6.9e-26 PFAM
Pfam:RAP 475 513 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115047
SMART Domains Protein: ENSMUSP00000110699
Gene: ENSMUSG00000028962

DomainStartEndE-ValueType
low complexity region 79 96 N/A INTRINSIC
low complexity region 98 121 N/A INTRINSIC
low complexity region 124 137 N/A INTRINSIC
low complexity region 155 164 N/A INTRINSIC
low complexity region 186 202 N/A INTRINSIC
low complexity region 282 299 N/A INTRINSIC
Pfam:Band_3_cyto 334 602 7.2e-108 PFAM
Pfam:HCO3_cotransp 656 1151 1e-244 PFAM
transmembrane domain 1169 1186 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198276
Predicted Effect probably benign
Transcript: ENSMUST00000144389
Meta Mutation Damage Score 0.9214 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (73/73)
MGI Phenotype PHENOTYPE: Knockout mice exhibit a strong increase in home cage locomotor activity during the dark phase (subjective day) of the light:dark (L:D) cycle, and increased waking and decreased NREM & REM times during the dark phase as determined by EEG analysis. Decreased abdominal fat and monocyte counts are seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm1 A G 7: 119,258,350 (GRCm39) E481G probably damaging Het
Anks1b C T 10: 89,912,928 (GRCm39) T351M probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Asph A C 4: 9,542,314 (GRCm39) probably benign Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Cfap91 A T 16: 38,131,400 (GRCm39) I471N possibly damaging Het
Clca3a2 T A 3: 144,519,679 (GRCm39) T232S probably benign Het
Col1a2 G A 6: 4,519,882 (GRCm39) probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Cpd T C 11: 76,702,685 (GRCm39) N561S probably damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dnah10 T C 5: 124,896,476 (GRCm39) probably null Het
Dsg2 T C 18: 20,712,185 (GRCm39) F107S probably damaging Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fermt2 A C 14: 45,741,948 (GRCm39) probably null Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Grtp1 G A 8: 13,239,755 (GRCm39) probably benign Het
Hecw1 G T 13: 14,420,421 (GRCm39) Q1001K possibly damaging Het
Hydin T C 8: 111,130,927 (GRCm39) V606A possibly damaging Het
Krt33b T A 11: 99,914,835 (GRCm39) N388I probably benign Het
Lipf T C 19: 33,950,438 (GRCm39) Y277H probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Med17 T C 9: 15,187,187 (GRCm39) K196E probably damaging Het
Mmp25 T A 17: 23,863,765 (GRCm39) I22F probably benign Het
Nrg3 T A 14: 38,092,965 (GRCm39) N540I possibly damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Or52ad1 T C 7: 102,995,272 (GRCm39) M288V probably benign Het
Or52r1c T A 7: 102,735,548 (GRCm39) H269Q probably benign Het
Pcdh1 G T 18: 38,322,815 (GRCm39) A1006E probably benign Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Plaa G A 4: 94,457,696 (GRCm39) A758V probably damaging Het
Prl6a1 T A 13: 27,499,303 (GRCm39) W24R probably damaging Het
Ptk7 T C 17: 46,883,476 (GRCm39) H863R probably damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Rhou T C 8: 124,387,880 (GRCm39) I204T possibly damaging Het
Serpind1 G T 16: 17,154,972 (GRCm39) M266I probably benign Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Slc2a2 T G 3: 28,772,920 (GRCm39) C238G probably damaging Het
Slc39a8 A G 3: 135,592,584 (GRCm39) M420V probably benign Het
Slc7a9 C A 7: 35,163,167 (GRCm39) Y457* probably null Het
Smpd3 C T 8: 106,991,452 (GRCm39) R367H probably damaging Het
Sntb2 T C 8: 107,662,729 (GRCm39) V99A probably benign Het
Specc1l T G 10: 75,094,965 (GRCm39) I796R probably damaging Het
Stfa2l1 G T 16: 35,980,316 (GRCm39) V29F probably damaging Het
Synrg T C 11: 83,885,180 (GRCm39) F455S probably damaging Het
Tap2 T C 17: 34,431,328 (GRCm39) V422A possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tcp10a A G 17: 7,597,173 (GRCm39) Y110C probably damaging Het
Thoc1 T A 18: 9,959,255 (GRCm39) S43R probably damaging Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Trpc3 G A 3: 36,688,532 (GRCm39) R836* probably null Het
Tsbp1 A T 17: 34,640,836 (GRCm39) H57L possibly damaging Het
Ube2u T C 4: 100,381,495 (GRCm39) S185P possibly damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vcp A G 4: 42,980,846 (GRCm39) Y755H probably damaging Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Wdfy3 A T 5: 102,091,988 (GRCm39) F450L probably benign Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Xylt1 C A 7: 117,234,011 (GRCm39) Q513K probably benign Het
Zfp229 T C 17: 21,964,484 (GRCm39) F238S probably damaging Het
Other mutations in Tmub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Tmub1 APN 5 24,651,096 (GRCm39) missense probably damaging 0.99
P0018:Tmub1 UTSW 5 24,651,755 (GRCm39) missense possibly damaging 0.83
R2256:Tmub1 UTSW 5 24,652,175 (GRCm39) unclassified probably benign
R2256:Tmub1 UTSW 5 24,651,922 (GRCm39) missense possibly damaging 0.92
R2257:Tmub1 UTSW 5 24,651,922 (GRCm39) missense possibly damaging 0.92
R2938:Tmub1 UTSW 5 24,650,922 (GRCm39) makesense probably null
R4438:Tmub1 UTSW 5 24,651,068 (GRCm39) missense probably damaging 1.00
R5897:Tmub1 UTSW 5 24,651,925 (GRCm39) missense probably benign 0.03
R6703:Tmub1 UTSW 5 24,651,944 (GRCm39) missense probably benign 0.18
R7500:Tmub1 UTSW 5 24,652,507 (GRCm39) unclassified probably benign
R7525:Tmub1 UTSW 5 24,651,011 (GRCm39) missense probably damaging 1.00
R7867:Tmub1 UTSW 5 24,651,664 (GRCm39) missense possibly damaging 0.91
R8896:Tmub1 UTSW 5 24,651,680 (GRCm39) missense probably benign 0.01
R8957:Tmub1 UTSW 5 24,651,775 (GRCm39) missense probably benign 0.06
R9331:Tmub1 UTSW 5 24,650,985 (GRCm39) missense probably damaging 0.99
Z1176:Tmub1 UTSW 5 24,651,095 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGAAGATCACACGGAGCG -3'
(R):5'- TCAGACACTAGGCAGTCTCC -3'

Sequencing Primer
(F):5'- ATCACACGGAGCGGCCTC -3'
(R):5'- ACTAGGCAGTCTCCACCTG -3'
Posted On 2014-12-29