Incidental Mutation 'R6017:Adgb'
ID 478654
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 044191-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6017 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10325780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 56 (I56M)
Ref Sequence ENSEMBL: ENSMUSP00000136386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132573] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]
AlphaFold G3UZ78
Predicted Effect probably damaging
Transcript: ENSMUST00000132573
AA Change: I56M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: I56M

DomainStartEndE-ValueType
CysPc 56 655 2.7e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172530
AA Change: I56M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: I56M

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: I56M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: I56M

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 possibly damaging
Transcript: ENSMUST00000208717
AA Change: I50M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.0779 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 97% (62/64)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,545,542 (GRCm39) L5581* probably null Het
Arpc2 C A 1: 74,301,645 (GRCm39) H193N probably benign Het
B3galt5 A G 16: 96,116,384 (GRCm39) T6A probably benign Het
Bod1l A T 5: 41,976,103 (GRCm39) V1737E probably benign Het
Cacfd1 T G 2: 26,903,440 (GRCm39) probably benign Het
Cdc42ep4 A T 11: 113,620,192 (GRCm39) D66E probably benign Het
Cldn1 G T 16: 26,181,969 (GRCm39) T80N probably damaging Het
Cmtm1 C A 8: 105,037,583 (GRCm39) probably benign Het
Cntnap5c A T 17: 58,411,693 (GRCm39) I526F probably benign Het
Copb1 T C 7: 113,836,032 (GRCm39) K450E probably benign Het
Crebrf A C 17: 26,976,823 (GRCm39) I416L probably benign Het
Csmd3 C A 15: 48,177,408 (GRCm39) V377F possibly damaging Het
Cyp1a2 T C 9: 57,588,313 (GRCm39) K304E probably damaging Het
Cyp2d26 A G 15: 82,674,774 (GRCm39) S403P possibly damaging Het
Cyp4a12a T A 4: 115,183,476 (GRCm39) C198* probably null Het
Ddx11 A G 17: 66,437,012 (GRCm39) D102G Het
Dpys T A 15: 39,710,114 (GRCm39) Q105L probably null Het
Dsn1 C A 2: 156,838,162 (GRCm39) R334L probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epha8 G T 4: 136,659,054 (GRCm39) H867N probably damaging Het
Ephb3 T C 16: 21,040,781 (GRCm39) L643P probably damaging Het
Fbxo44 G T 4: 148,243,010 (GRCm39) H83Q probably benign Het
Gm13102 T C 4: 143,835,807 (GRCm39) Y477H possibly damaging Het
Gm7347 T C 5: 26,262,276 (GRCm39) T82A probably benign Het
Gss C A 2: 155,429,385 (GRCm39) A36S probably benign Het
Hepacam A G 9: 37,292,056 (GRCm39) D128G probably benign Het
Hepacam2 C A 6: 3,483,332 (GRCm39) V226F probably damaging Het
Hgfac T C 5: 35,201,739 (GRCm39) Y291H probably damaging Het
Ip6k2 G A 9: 108,674,466 (GRCm39) R88H probably benign Het
Irx5 T A 8: 93,084,878 (GRCm39) Y23N probably damaging Het
Kcnf1 T C 12: 17,225,082 (GRCm39) M380V probably damaging Het
Kcnj1 A T 9: 32,305,400 (GRCm39) probably benign Het
Kcnk12 T C 17: 88,054,164 (GRCm39) E166G probably damaging Het
Kctd16 T C 18: 40,391,996 (GRCm39) C195R probably damaging Het
Kif28 T A 1: 179,527,018 (GRCm39) I718F probably benign Het
Lce1e T A 3: 92,615,240 (GRCm39) K36* probably null Het
Map4 T C 9: 109,863,687 (GRCm39) L304P probably benign Het
Mettl17 C T 14: 52,129,074 (GRCm39) probably benign Het
Mpp4 T C 1: 59,160,518 (GRCm39) D595G probably damaging Het
Myo18a A G 11: 77,732,349 (GRCm39) K1282E probably damaging Het
Nf2 A T 11: 4,766,137 (GRCm39) V131D possibly damaging Het
Or7g35 T C 9: 19,496,730 (GRCm39) V299A probably benign Het
Or8b3 A T 9: 38,314,916 (GRCm39) M249L probably benign Het
Oxsr1 A G 9: 119,093,843 (GRCm39) L270S probably benign Het
Plekhg2 G A 7: 28,062,309 (GRCm39) T536I probably damaging Het
Ppp1r9a T A 6: 4,906,363 (GRCm39) V306D probably benign Het
Ptk6 C T 2: 180,837,605 (GRCm39) C438Y probably benign Het
Scfd1 T C 12: 51,492,461 (GRCm39) V590A probably damaging Het
Serpina1b A G 12: 103,695,531 (GRCm39) S337P probably damaging Het
Skor2 T A 18: 76,946,622 (GRCm39) C115S unknown Het
Slc2a7 T C 4: 150,249,629 (GRCm39) S407P probably damaging Het
Slc8a1 A G 17: 81,955,683 (GRCm39) S452P probably damaging Het
Spata31d1c A G 13: 65,182,893 (GRCm39) D145G possibly damaging Het
Spata6 C A 4: 111,632,024 (GRCm39) T145K probably damaging Het
Stab1 C T 14: 30,863,501 (GRCm39) R2087H probably benign Het
Stk24 C T 14: 121,539,657 (GRCm39) V180M probably benign Het
Trrap A G 5: 144,781,051 (GRCm39) T3271A probably damaging Het
Tyro3 T A 2: 119,647,147 (GRCm39) W755R probably damaging Het
Ush2a T C 1: 188,689,711 (GRCm39) probably null Het
Uts2b T C 16: 27,179,793 (GRCm39) probably null Het
Vmn2r105 T A 17: 20,428,889 (GRCm39) H729L probably damaging Het
Vps35l T A 7: 118,409,144 (GRCm39) V635D probably damaging Het
Wdfy3 T C 5: 101,999,225 (GRCm39) I3068V probably benign Het
Zfp457 G A 13: 67,441,763 (GRCm39) H175Y probably damaging Het
Zfp758 A G 17: 22,592,712 (GRCm39) D40G 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
R6005:Adgb UTSW 10 10,271,096 (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'- CAACTGGTGGGCAGAACTTG -3'
(R):5'- GTCTTACTGACAAGTGTACCCAATAC -3'

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