Incidental Mutation 'R6005:Adgb'
ID 479431
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 044425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6005 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10271096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 849 (R849H)
Ref Sequence ENSEMBL: ENSMUSP00000136386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045328] [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]
AlphaFold G3UZ78
Predicted Effect probably benign
Transcript: ENSMUST00000045328
SMART Domains Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994

DomainStartEndE-ValueType
Blast:CysPc 11 257 1e-165 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148816
SMART Domains Protein: ENSMUSP00000133652
Gene: ENSMUSG00000050994

DomainStartEndE-ValueType
Blast:CysPc 1 41 1e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172530
AA Change: R847H

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: R847H

DomainStartEndE-ValueType
CysPc 56 655 2.7e-2 SMART
IQ 904 926 6.41e0 SMART
low complexity region 1179 1190 N/A INTRINSIC
low complexity region 1318 1335 N/A INTRINSIC
coiled coil region 1534 1559 N/A INTRINSIC
low complexity region 1616 1633 N/A INTRINSIC
low complexity region 1649 1657 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179956
AA Change: R849H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: R849H

DomainStartEndE-ValueType
CysPc 56 657 5.36e-2 SMART
IQ 906 928 6.41e0 SMART
low complexity region 1181 1192 N/A INTRINSIC
low complexity region 1321 1338 N/A INTRINSIC
coiled coil region 1537 1562 N/A INTRINSIC
low complexity region 1619 1636 N/A INTRINSIC
low complexity region 1652 1660 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208717
AA Change: R823H

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.2094 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 99% (79/80)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik A T 15: 85,378,310 (GRCm39) I111N unknown Het
Ahnak T C 19: 8,992,525 (GRCm39) V4603A possibly damaging Het
Ank1 A G 8: 23,622,218 (GRCm39) D1589G probably damaging Het
Ankrd2 A G 19: 42,028,554 (GRCm39) D70G probably damaging Het
Arid2 T C 15: 96,268,853 (GRCm39) S989P probably benign Het
Bbs1 A T 19: 4,953,823 (GRCm39) Y113* probably null Het
Bfsp2 T G 9: 103,325,749 (GRCm39) K298T probably damaging Het
Bpi G A 2: 158,104,400 (GRCm39) V168I possibly damaging Het
Cacna2d1 T C 5: 16,566,819 (GRCm39) S921P probably damaging Het
Clec4d A C 6: 123,244,118 (GRCm39) T76P probably damaging Het
Coq8b C T 7: 26,956,750 (GRCm39) Q468* probably null Het
Dennd6b T C 15: 89,072,371 (GRCm39) E248G possibly damaging Het
Ednra A G 8: 78,401,556 (GRCm39) S245P possibly damaging Het
Epb41l4a C T 18: 33,961,196 (GRCm39) C446Y probably benign Het
Fam221a A G 6: 49,344,756 (GRCm39) probably benign Het
Fam229a T C 4: 129,385,296 (GRCm39) S76P probably benign Het
Fryl C T 5: 73,240,638 (GRCm39) D1321N probably damaging Het
Gata3os T C 2: 9,887,638 (GRCm39) probably benign Het
Gli2 C T 1: 118,769,794 (GRCm39) R586H probably damaging Het
Gm94 C T 18: 43,925,862 (GRCm39) A16T possibly damaging Het
Gorasp2 T C 2: 70,521,095 (GRCm39) V355A probably benign Het
Grid1 C A 14: 35,045,369 (GRCm39) T404N probably damaging Het
Gtf2i C A 5: 134,284,812 (GRCm39) E475* probably null Het
Gucy1a2 T C 9: 3,865,518 (GRCm39) probably null Het
Hs3st5 T A 10: 36,708,924 (GRCm39) I153N probably damaging Het
Il11ra1 T C 4: 41,763,887 (GRCm39) probably null Het
Ireb2 G A 9: 54,816,089 (GRCm39) G887S probably damaging Het
Kdsr T C 1: 106,662,311 (GRCm39) E248G probably benign Het
Lemd2 C G 17: 27,409,759 (GRCm39) R464P probably damaging Het
Lrrfip1 T C 1: 91,042,333 (GRCm39) V246A probably damaging Het
Macf1 T A 4: 123,368,068 (GRCm39) D2231V possibly damaging Het
Map2k5 C T 9: 63,188,301 (GRCm39) D283N probably damaging Het
Mfsd5 A G 15: 102,189,927 (GRCm39) D433G possibly damaging Het
Mir700 C A 4: 135,139,618 (GRCm39) probably null Het
Mroh9 A T 1: 162,903,246 (GRCm39) F52L probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Mycbp2 A C 14: 103,394,159 (GRCm39) S2691A probably benign Het
Myorg T A 4: 41,498,895 (GRCm39) H245L probably benign Het
Nktr T A 9: 121,577,460 (GRCm39) probably benign Het
Obsl1 C A 1: 75,468,859 (GRCm39) probably null Het
Or10ag60 A T 2: 87,438,424 (GRCm39) I231F probably damaging Het
Or52r1b A T 7: 102,690,853 (GRCm39) I51F probably damaging Het
Or5aq7 A G 2: 86,938,407 (GRCm39) V108A probably benign Het
Or7g35 C T 9: 19,496,181 (GRCm39) T116I probably benign Het
Or8c11 T C 9: 38,289,605 (GRCm39) S137P probably damaging Het
Pcdhb22 T A 18: 37,652,789 (GRCm39) I162N possibly damaging Het
Pde1c A T 6: 56,456,187 (GRCm39) probably null Het
Pds5b A G 5: 150,693,241 (GRCm39) probably null Het
Pkd1l1 A C 11: 8,807,113 (GRCm39) W1568G probably damaging Het
Polr3c A T 3: 96,626,784 (GRCm39) M258K possibly damaging Het
Pramel23 T A 4: 143,425,002 (GRCm39) H147L probably benign Het
Prss12 A T 3: 123,276,417 (GRCm39) I349F probably benign Het
Ptpn21 A G 12: 98,644,811 (GRCm39) *1177Q probably null Het
Rgs22 T A 15: 36,010,713 (GRCm39) K1125M probably benign Het
Rnf182 A G 13: 43,821,511 (GRCm39) K21E probably damaging Het
Rpl6 G A 5: 121,343,577 (GRCm39) probably benign Het
Samsn1 C T 16: 75,670,402 (GRCm39) V234I probably benign Het
Scrib A G 15: 75,929,600 (GRCm39) I1089T probably damaging Het
Sec31a T C 5: 100,511,737 (GRCm39) T1092A probably damaging Het
Sh3bp2 G T 5: 34,719,809 (GRCm39) R606L possibly damaging Het
Sipa1 A G 19: 5,706,229 (GRCm39) V367A probably damaging Het
Slc25a44 C T 3: 88,320,153 (GRCm39) E269K probably damaging Het
Slc44a4 T A 17: 35,142,430 (GRCm39) M353K possibly damaging Het
Sorcs2 A G 5: 36,176,728 (GRCm39) S1142P probably damaging Het
Sptbn4 A G 7: 27,118,024 (GRCm39) F352L probably damaging Het
Synj1 A T 16: 90,766,174 (GRCm39) N541K probably damaging Het
Tas2r113 G A 6: 132,870,659 (GRCm39) R229K probably benign Het
Tcaf3 A T 6: 42,566,905 (GRCm39) I728K probably benign Het
Tcea1 A G 1: 4,960,996 (GRCm39) E167G probably benign Het
Timeless G A 10: 128,080,069 (GRCm39) R406H probably damaging Het
Traf6 C T 2: 101,527,029 (GRCm39) R260* probably null Het
Traj31 C T 14: 54,425,388 (GRCm39) probably benign Het
Ttn A T 2: 76,599,907 (GRCm39) V19089D probably damaging Het
Unc80 C T 1: 66,666,416 (GRCm39) S1868L possibly damaging Het
Wdr38 A T 2: 38,891,333 (GRCm39) I287F possibly damaging Het
Wnt2 G A 6: 18,030,322 (GRCm39) probably benign Het
Wnt5b G A 6: 119,410,615 (GRCm39) P288L probably benign Het
Xkr5 G T 8: 18,984,521 (GRCm39) N174K probably benign Het
Zbtb6 C T 2: 37,318,977 (GRCm39) R317Q probably damaging Het
Zcchc7 AGGGG AGGG 4: 44,931,218 (GRCm39) probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Adgb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Adgb APN 10 10,281,843 (GRCm39) missense possibly damaging 0.87
IGL01083:Adgb APN 10 10,283,298 (GRCm39) missense possibly damaging 0.50
IGL03064:Adgb APN 10 10,276,316 (GRCm39) missense probably benign 0.02
R0080:Adgb UTSW 10 10,253,583 (GRCm39) splice site probably benign
R0084:Adgb UTSW 10 10,272,088 (GRCm39) missense possibly damaging 0.74
R0112:Adgb UTSW 10 10,282,902 (GRCm39) splice site probably benign
R0348:Adgb UTSW 10 10,233,623 (GRCm39) missense probably benign
R0415:Adgb UTSW 10 10,306,811 (GRCm39) splice site probably null
R0633:Adgb UTSW 10 10,267,473 (GRCm39) missense probably benign 0.36
R1052:Adgb UTSW 10 10,318,357 (GRCm39) missense probably benign 0.29
R1248:Adgb UTSW 10 10,271,054 (GRCm39) missense probably damaging 0.98
R1278:Adgb UTSW 10 10,258,572 (GRCm39) missense probably damaging 1.00
R1568:Adgb UTSW 10 10,318,409 (GRCm39) nonsense probably null
R1647:Adgb UTSW 10 10,271,115 (GRCm39) missense probably damaging 1.00
R1648:Adgb UTSW 10 10,271,115 (GRCm39) missense probably damaging 1.00
R1663:Adgb UTSW 10 10,215,419 (GRCm39) missense possibly damaging 0.86
R1688:Adgb UTSW 10 10,226,061 (GRCm39) nonsense probably null
R1758:Adgb UTSW 10 10,302,349 (GRCm39) missense probably damaging 1.00
R1772:Adgb UTSW 10 10,258,465 (GRCm39) splice site probably benign
R1850:Adgb UTSW 10 10,318,246 (GRCm39) missense probably damaging 1.00
R1959:Adgb UTSW 10 10,270,993 (GRCm39) missense probably benign 0.02
R1980:Adgb UTSW 10 10,309,242 (GRCm39) missense probably benign
R2179:Adgb UTSW 10 10,271,018 (GRCm39) missense possibly damaging 0.94
R2229:Adgb UTSW 10 10,311,795 (GRCm39) missense probably damaging 1.00
R2283:Adgb UTSW 10 10,253,635 (GRCm39) missense probably damaging 0.99
R2870:Adgb UTSW 10 10,307,025 (GRCm39) critical splice donor site probably null
R2870:Adgb UTSW 10 10,307,025 (GRCm39) critical splice donor site probably null
R2875:Adgb UTSW 10 10,298,463 (GRCm39) missense probably damaging 1.00
R2876:Adgb UTSW 10 10,298,463 (GRCm39) missense probably damaging 1.00
R2920:Adgb UTSW 10 10,265,987 (GRCm39) missense probably damaging 1.00
R2931:Adgb UTSW 10 10,318,246 (GRCm39) missense possibly damaging 0.84
R3722:Adgb UTSW 10 10,216,254 (GRCm39) missense probably benign 0.32
R3846:Adgb UTSW 10 10,258,465 (GRCm39) splice site probably benign
R3877:Adgb UTSW 10 10,318,227 (GRCm39) critical splice donor site probably null
R4210:Adgb UTSW 10 10,283,209 (GRCm39) missense probably benign 0.06
R4211:Adgb UTSW 10 10,283,209 (GRCm39) missense probably benign 0.06
R4333:Adgb UTSW 10 10,318,246 (GRCm39) missense possibly damaging 0.84
R4448:Adgb UTSW 10 10,266,569 (GRCm39) missense probably benign 0.32
R4470:Adgb UTSW 10 10,274,695 (GRCm39) missense probably benign 0.02
R4624:Adgb UTSW 10 10,278,748 (GRCm39) missense probably benign 0.00
R4656:Adgb UTSW 10 10,281,050 (GRCm39) missense probably damaging 0.99
R4676:Adgb UTSW 10 10,302,454 (GRCm39) missense probably damaging 1.00
R4792:Adgb UTSW 10 10,274,647 (GRCm39) missense probably damaging 0.96
R4795:Adgb UTSW 10 10,233,616 (GRCm39) missense probably benign 0.01
R4858:Adgb UTSW 10 10,225,321 (GRCm39) missense probably damaging 1.00
R4985:Adgb UTSW 10 10,276,376 (GRCm39) missense possibly damaging 0.69
R5057:Adgb UTSW 10 10,233,722 (GRCm39) missense probably benign 0.11
R5157:Adgb UTSW 10 10,274,710 (GRCm39) missense probably damaging 1.00
R5209:Adgb UTSW 10 10,274,681 (GRCm39) missense possibly damaging 0.71
R5339:Adgb UTSW 10 10,318,350 (GRCm39) missense probably damaging 1.00
R5376:Adgb UTSW 10 10,222,307 (GRCm39) missense probably benign 0.09
R5426:Adgb UTSW 10 10,226,004 (GRCm39) missense probably benign 0.14
R5516:Adgb UTSW 10 10,306,901 (GRCm39) missense probably damaging 1.00
R5554:Adgb UTSW 10 10,216,217 (GRCm39) missense probably damaging 0.98
R5678:Adgb UTSW 10 10,307,070 (GRCm39) missense possibly damaging 0.83
R5707:Adgb UTSW 10 10,267,501 (GRCm39) missense probably damaging 1.00
R5708:Adgb UTSW 10 10,267,501 (GRCm39) missense probably damaging 1.00
R5891:Adgb UTSW 10 10,253,591 (GRCm39) nonsense probably null
R5928:Adgb UTSW 10 10,254,531 (GRCm39) missense probably damaging 1.00
R6017:Adgb UTSW 10 10,325,780 (GRCm39) missense probably damaging 1.00
R6049:Adgb UTSW 10 10,253,770 (GRCm39) missense probably damaging 1.00
R6118:Adgb UTSW 10 10,307,035 (GRCm39) missense probably damaging 1.00
R6175:Adgb UTSW 10 10,274,687 (GRCm39) missense possibly damaging 0.94
R6186:Adgb UTSW 10 10,298,502 (GRCm39) missense probably damaging 1.00
R6234:Adgb UTSW 10 10,228,824 (GRCm39) splice site probably null
R6383:Adgb UTSW 10 10,325,772 (GRCm39) missense probably damaging 1.00
R6522:Adgb UTSW 10 10,253,636 (GRCm39) nonsense probably null
R6639:Adgb UTSW 10 10,311,700 (GRCm39) missense possibly damaging 0.51
R6697:Adgb UTSW 10 10,281,870 (GRCm39) nonsense probably null
R6742:Adgb UTSW 10 10,287,593 (GRCm39) missense probably damaging 1.00
R6745:Adgb UTSW 10 10,265,941 (GRCm39) missense probably damaging 1.00
R6850:Adgb UTSW 10 10,270,318 (GRCm39) missense probably benign 0.39
R7128:Adgb UTSW 10 10,347,985 (GRCm39) missense probably benign 0.26
R7326:Adgb UTSW 10 10,276,318 (GRCm39) missense possibly damaging 0.80
R7386:Adgb UTSW 10 10,253,693 (GRCm39) missense possibly damaging 0.52
R7431:Adgb UTSW 10 10,267,699 (GRCm39) splice site probably null
R7569:Adgb UTSW 10 10,306,996 (GRCm39) missense probably benign
R7579:Adgb UTSW 10 10,286,562 (GRCm39) nonsense probably null
R7582:Adgb UTSW 10 10,266,565 (GRCm39) missense probably damaging 1.00
R7615:Adgb UTSW 10 10,311,754 (GRCm39) missense probably damaging 0.96
R7692:Adgb UTSW 10 10,287,456 (GRCm39) critical splice donor site probably null
R7774:Adgb UTSW 10 10,215,404 (GRCm39) nonsense probably null
R7808:Adgb UTSW 10 10,254,403 (GRCm39) splice site probably null
R8158:Adgb UTSW 10 10,254,478 (GRCm39) missense probably benign 0.22
R8386:Adgb UTSW 10 10,226,048 (GRCm39) missense probably damaging 1.00
R8746:Adgb UTSW 10 10,281,028 (GRCm39) critical splice donor site probably null
R8785:Adgb UTSW 10 10,233,710 (GRCm39) missense probably damaging 1.00
R9089:Adgb UTSW 10 10,318,432 (GRCm39) missense probably benign 0.26
R9140:Adgb UTSW 10 10,216,263 (GRCm39) nonsense probably null
R9386:Adgb UTSW 10 10,274,708 (GRCm39) missense probably benign 0.00
R9777:Adgb UTSW 10 10,283,214 (GRCm39) missense possibly damaging 0.74
X0003:Adgb UTSW 10 10,270,374 (GRCm39) missense possibly damaging 0.76
Z1176:Adgb UTSW 10 10,254,486 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TACACAAGAGCTGAGCACAG -3'
(R):5'- GAATTGGCAATGACAAATGTCCAC -3'

Sequencing Primer
(F):5'- CTGAGCACAGCCATTTTAAATTACC -3'
(R):5'- TGGCAATGACAAATGTCCACCTTATC -3'
Posted On 2017-06-26