Incidental Mutation 'R2938:Tmub1'
ID 256096
Institutional Source Beutler Lab
Gene Symbol Tmub1
Ensembl Gene ENSMUSG00000028958
Gene Name transmembrane and ubiquitin-like domain containing 1
Synonyms 2010004O20Rik, Hops
MMRRC Submission 040515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R2938 (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: 95.3%
Validation Efficiency 100% (62/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,736,653 (GRCm39) I1775K probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Astn2 A T 4: 65,910,550 (GRCm39) H427Q possibly damaging 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
Ccdc73 T A 2: 104,805,980 (GRCm39) L296* probably null Het
Cd40 G C 2: 164,911,622 (GRCm39) V191L probably benign Het
Cdc6 A G 11: 98,801,586 (GRCm39) I217V probably benign 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
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Cstl1 T A 2: 148,592,977 (GRCm39) I44N possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,222,900 (GRCm39) T1000S probably benign 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
Gpr83 A G 9: 14,776,167 (GRCm39) T163A probably benign Het
Hmgcr G A 13: 96,799,576 (GRCm39) L173F probably damaging Het
Htr2b T A 1: 86,030,177 (GRCm39) I173F possibly damaging Het
Ifna11 T C 4: 88,738,530 (GRCm39) L112P 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
Macf1 T C 4: 123,326,695 (GRCm39) N2815S probably damaging Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Man2b2 A G 5: 36,978,330 (GRCm39) I318T probably benign Het
Mib1 T A 18: 10,752,033 (GRCm39) probably benign Het
Myo10 T A 15: 25,795,803 (GRCm39) S1315T probably damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Opcml A G 9: 27,702,682 (GRCm39) M1V probably null Het
Or4d5 A T 9: 40,012,039 (GRCm39) I249K probably benign Het
Or5m3 T C 2: 85,838,357 (GRCm39) M79T probably damaging Het
Or6c66b T A 10: 129,376,484 (GRCm39) F26Y probably damaging Het
Parm1 T C 5: 91,742,328 (GRCm39) I232T possibly damaging Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Pfkfb2 G A 1: 130,633,147 (GRCm39) T202I possibly damaging Het
Postn T A 3: 54,277,731 (GRCm39) F242Y probably damaging Het
Prss12 A G 3: 123,280,625 (GRCm39) T437A probably benign Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Saraf A G 8: 34,635,735 (GRCm39) N346D probably benign Het
Sec31b T C 19: 44,524,618 (GRCm39) D93G probably damaging Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Sh3rf2 A G 18: 42,282,789 (GRCm39) D449G probably benign Het
Slc9a3 T C 13: 74,269,788 (GRCm39) I52T possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Utp4 A G 8: 107,649,561 (GRCm39) D670G probably damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign 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
Wdsub1 T C 2: 59,703,630 (GRCm39) T112A possibly damaging 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
Zfp808 G A 13: 62,319,032 (GRCm39) V67M probably benign 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
R2937: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'- AGCTATGAAGATCACACGGAGC -3'
(R):5'- AGACACTAGGCAGTCTCCAC -3'

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