Incidental Mutation 'R9213:Tmub2'
ID 699017
Institutional Source Beutler Lab
Gene Symbol Tmub2
Ensembl Gene ENSMUSG00000034757
Gene Name transmembrane and ubiquitin-like domain containing 2
Synonyms 2010008E23Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 102175757-102180063 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 102178475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 164 (R164K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036376] [ENSMUST00000073234] [ENSMUST00000107132] [ENSMUST00000107134] [ENSMUST00000137387] [ENSMUST00000156326]
AlphaFold Q3V209
Predicted Effect probably benign
Transcript: ENSMUST00000036376
AA Change: R126K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000047600
Gene: ENSMUSG00000034757
AA Change: R126K

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
UBQ 173 242 1.75e-9 SMART
transmembrane domain 264 286 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073234
SMART Domains Protein: ENSMUSP00000072967
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.3e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 202 239 8.8e-10 PFAM
low complexity region 275 288 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000097956
Gene: ENSMUSG00000034757
AA Change: R164K

DomainStartEndE-ValueType
low complexity region 21 35 N/A INTRINSIC
transmembrane domain 75 97 N/A INTRINSIC
UBQ 212 281 1.75e-9 SMART
transmembrane domain 303 325 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107132
SMART Domains Protein: ENSMUSP00000102750
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.1e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 209 246 7.8e-11 PFAM
low complexity region 282 295 N/A INTRINSIC
low complexity region 309 323 N/A INTRINSIC
low complexity region 335 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107134
SMART Domains Protein: ENSMUSP00000102752
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 80 112 1.3e-21 PFAM
low complexity region 135 143 N/A INTRINSIC
low complexity region 150 159 N/A INTRINSIC
Pfam:SCA7 202 239 8.8e-10 PFAM
low complexity region 275 288 N/A INTRINSIC
low complexity region 302 316 N/A INTRINSIC
low complexity region 328 338 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137387
SMART Domains Protein: ENSMUSP00000122610
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
Pfam:Sgf11 76 108 2.6e-21 PFAM
low complexity region 131 139 N/A INTRINSIC
low complexity region 146 155 N/A INTRINSIC
Pfam:SCA7 205 242 1.9e-9 PFAM
low complexity region 278 291 N/A INTRINSIC
low complexity region 305 319 N/A INTRINSIC
low complexity region 331 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141516
SMART Domains Protein: ENSMUSP00000121917
Gene: ENSMUSG00000059995

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 27 35 N/A INTRINSIC
low complexity region 42 51 N/A INTRINSIC
Pfam:SCA7 113 150 6.7e-11 PFAM
low complexity region 186 199 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
low complexity region 239 249 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156326
AA Change: R126K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116327
Gene: ENSMUSG00000034757
AA Change: R126K

DomainStartEndE-ValueType
transmembrane domain 36 58 N/A INTRINSIC
UBQ 173 242 1.75e-9 SMART
transmembrane domain 264 286 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a predicted multi-pass membrane protein that features a C-terminal ubiquitin-related domain. This gene may be expressed in cone photoreceptors in the retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,581,440 (GRCm39) C852S probably damaging Het
Arf1 A G 11: 59,104,186 (GRCm39) V43A probably damaging Het
Arhgef26 T A 3: 62,340,000 (GRCm39) M674K probably benign Het
Asb1 A C 1: 91,482,531 (GRCm39) K314N probably damaging Het
Aste1 T C 9: 105,274,294 (GRCm39) F178S probably damaging Het
Avl9 T C 6: 56,720,441 (GRCm39) F493S probably damaging Het
BC024139 T C 15: 76,009,422 (GRCm39) Y220C probably benign Het
Ccdc60 T C 5: 116,328,185 (GRCm39) E93G probably damaging Het
Cep112 A G 11: 108,377,779 (GRCm39) H295R probably benign Het
Chd3 T C 11: 69,255,628 (GRCm39) K87E possibly damaging Het
Chordc1 G T 9: 18,223,789 (GRCm39) probably null Het
Ciita A T 16: 10,319,742 (GRCm39) D55V probably damaging Het
Cklf T C 8: 104,988,125 (GRCm39) V86A probably damaging Het
Clock T A 5: 76,393,376 (GRCm39) N189I possibly damaging Het
Dnah14 T C 1: 181,444,205 (GRCm39) probably null Het
Dpep3 C G 8: 106,700,245 (GRCm39) C487S probably benign Het
Dtwd2 A G 18: 49,856,799 (GRCm39) F163L probably benign Het
Eln C T 5: 134,735,456 (GRCm39) V776M unknown Het
Fanci T A 7: 79,055,971 (GRCm39) M201K possibly damaging Het
Frmd4a A G 2: 4,608,372 (GRCm39) T747A probably damaging Het
Galnt9 T A 5: 110,767,108 (GRCm39) C526* probably null Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gdpd5 T C 7: 99,100,945 (GRCm39) S247P probably damaging Het
Gm4846 C T 1: 166,322,142 (GRCm39) D142N probably damaging Het
Kbtbd2 T A 6: 56,756,917 (GRCm39) E273V probably damaging Het
Klk1b11 A G 7: 43,648,428 (GRCm39) E145G possibly damaging Het
Mmp1a G T 9: 7,475,364 (GRCm39) V378F possibly damaging Het
Mon2 G T 10: 122,872,016 (GRCm39) S336* probably null Het
Mrgprh T A 17: 13,095,917 (GRCm39) N52K probably damaging Het
Myo9a T C 9: 59,772,922 (GRCm39) F985L probably benign Het
Nek3 T C 8: 22,638,677 (GRCm39) N207S probably benign Het
Nkpd1 A G 7: 19,258,009 (GRCm39) D596G probably damaging Het
Oc90 C A 15: 65,761,557 (GRCm39) E154* probably null Het
Or8b101 T A 9: 38,020,426 (GRCm39) M143K possibly damaging Het
Or8b3 C A 9: 38,315,047 (GRCm39) Y292* probably null Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,358,874 (GRCm39) Y361C probably damaging Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Potefam1 T A 2: 111,020,699 (GRCm39) R136S unknown Het
Ppp1r26 A G 2: 28,343,649 (GRCm39) N1093S probably benign Het
Prex1 G T 2: 166,417,669 (GRCm39) R1313S probably damaging Het
Ptprh A T 7: 4,583,911 (GRCm39) V227E probably damaging Het
Pycr2 A G 1: 180,733,473 (GRCm39) D58G probably benign Het
Rad54b G T 4: 11,609,321 (GRCm39) E591* probably null Het
Rptor T C 11: 119,494,765 (GRCm39) S44P probably benign Het
Safb2 T A 17: 56,882,602 (GRCm39) T344S probably benign Het
Samd9l T C 6: 3,376,856 (GRCm39) E135G probably benign Het
Sec23a A T 12: 59,048,708 (GRCm39) I167N probably damaging Het
Shoc2 C T 19: 54,016,231 (GRCm39) T415I probably benign Het
Sobp T C 10: 42,898,374 (GRCm39) I404V probably benign Het
Ssbp4 G T 8: 71,052,395 (GRCm39) L147I probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Syt14 A G 1: 192,612,814 (GRCm39) V379A probably damaging Het
Tat T G 8: 110,722,820 (GRCm39) I294S probably damaging Het
Tcf19 A G 17: 35,825,899 (GRCm39) V86A probably damaging Het
Tfap2a T A 13: 40,870,875 (GRCm39) I338F possibly damaging Het
Tmco6 C A 18: 36,872,384 (GRCm39) N365K probably damaging Het
Togaram1 A G 12: 65,065,906 (GRCm39) I1637V possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Ybx1 T A 4: 119,138,794 (GRCm39) Y236F possibly damaging Het
Zfhx3 T A 8: 109,676,756 (GRCm39) I2602N probably benign Het
Other mutations in Tmub2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Tmub2 UTSW 11 102,179,201 (GRCm39) splice site probably null
R0332:Tmub2 UTSW 11 102,179,174 (GRCm39) missense probably damaging 1.00
R1168:Tmub2 UTSW 11 102,178,196 (GRCm39) missense possibly damaging 0.77
R1530:Tmub2 UTSW 11 102,178,312 (GRCm39) missense probably benign 0.01
R2141:Tmub2 UTSW 11 102,178,379 (GRCm39) missense possibly damaging 0.89
R2420:Tmub2 UTSW 11 102,178,581 (GRCm39) missense probably benign
R2421:Tmub2 UTSW 11 102,178,581 (GRCm39) missense probably benign
R3717:Tmub2 UTSW 11 102,175,887 (GRCm39) unclassified probably benign
R4660:Tmub2 UTSW 11 102,175,845 (GRCm39) unclassified probably benign
R5238:Tmub2 UTSW 11 102,175,820 (GRCm39) unclassified probably benign
R5444:Tmub2 UTSW 11 102,179,066 (GRCm39) missense possibly damaging 0.80
R6590:Tmub2 UTSW 11 102,178,345 (GRCm39) missense probably damaging 1.00
R6690:Tmub2 UTSW 11 102,178,345 (GRCm39) missense probably damaging 1.00
R9569:Tmub2 UTSW 11 102,179,153 (GRCm39) nonsense probably null
R9572:Tmub2 UTSW 11 102,176,541 (GRCm39) missense
R9735:Tmub2 UTSW 11 102,178,352 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTCTCCACCTATGTAGCAG -3'
(R):5'- TAGCTCCTCGGTGTCATTGAG -3'

Sequencing Primer
(F):5'- TCCACCTATGTAGCAGACAGTGG -3'
(R):5'- TCATTGAGGAACTTGAGGCG -3'
Posted On 2022-02-07