Incidental Mutation 'R6012:Adrm1b'
ID 502008
Institutional Source Beutler Lab
Gene Symbol Adrm1b
Ensembl Gene ENSMUSG00000042165
Gene Name adhesion regulating molecule 1B
Synonyms Gm9774
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R6012 (G1)
Quality Score 21.0411
Status Validated
Chromosome 3
Chromosomal Location 92335374-92336730 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 92336791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047300] [ENSMUST00000067102] [ENSMUST00000192538]
AlphaFold A0A0A6YVU8
Predicted Effect probably null
Transcript: ENSMUST00000047300
SMART Domains Protein: ENSMUSP00000045065
Gene: ENSMUSG00000042165

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 111 5.8e-36 PFAM
low complexity region 132 150 N/A INTRINSIC
Pfam:RPN13_C 170 283 7.5e-38 PFAM
low complexity region 292 305 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067102
SMART Domains Protein: ENSMUSP00000063287
Gene: ENSMUSG00000054215

DomainStartEndE-ValueType
Pfam:SPRR2 2 65 1.8e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000192538
SMART Domains Protein: ENSMUSP00000141274
Gene: ENSMUSG00000042165

DomainStartEndE-ValueType
Pfam:Proteasom_Rpn13 29 112 7.4e-35 PFAM
low complexity region 135 161 N/A INTRINSIC
low complexity region 173 254 N/A INTRINSIC
PDB:2KR0|A 255 407 4e-78 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Kcnc3 A G 7: 44,248,296 (GRCm39) D757G probably benign Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging Het
Other mutations in Adrm1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Adrm1b APN 3 92,335,707 (GRCm39) missense probably benign 0.06
IGL01474:Adrm1b APN 3 92,335,650 (GRCm39) missense probably damaging 0.99
R0634:Adrm1b UTSW 3 92,336,116 (GRCm39) nonsense probably null
R1791:Adrm1b UTSW 3 92,335,538 (GRCm39) missense probably damaging 0.99
R2215:Adrm1b UTSW 3 92,335,730 (GRCm39) missense probably damaging 0.97
R4077:Adrm1b UTSW 3 92,336,195 (GRCm39) unclassified probably benign
R5221:Adrm1b UTSW 3 92,335,815 (GRCm39) missense probably benign 0.00
R5481:Adrm1b UTSW 3 92,336,658 (GRCm39) missense possibly damaging 0.94
R5589:Adrm1b UTSW 3 92,336,112 (GRCm39) unclassified probably benign
R5611:Adrm1b UTSW 3 92,335,758 (GRCm39) missense probably damaging 1.00
R5621:Adrm1b UTSW 3 92,335,664 (GRCm39) missense probably damaging 1.00
R6538:Adrm1b UTSW 3 92,336,562 (GRCm39) missense possibly damaging 0.76
R6773:Adrm1b UTSW 3 92,336,556 (GRCm39) missense probably damaging 0.99
R6995:Adrm1b UTSW 3 92,336,315 (GRCm39) unclassified probably benign
R7953:Adrm1b UTSW 3 92,336,637 (GRCm39) missense probably benign 0.03
R7980:Adrm1b UTSW 3 92,336,406 (GRCm39) nonsense probably null
R8055:Adrm1b UTSW 3 92,336,139 (GRCm39) missense unknown
R9058:Adrm1b UTSW 3 92,335,559 (GRCm39) missense probably benign 0.02
Z1088:Adrm1b UTSW 3 92,336,397 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCCGGAACTCCACCAAATATTT -3'
(R):5'- CAGTGAGGCAACATAATCAGTTT -3'

Sequencing Primer
(F):5'- ATTTGGTAGAAGACCCCC -3'
(R):5'- TGCCAGGCTATAAGTGTCAC -3'
Posted On 2018-02-15