Incidental Mutation 'R0633:Adgb'
ID 58088
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 038822-MU
Accession Numbers

MGI:3605549

Essential gene? Non essential (E-score: 0.000) question?
Stock # R0633 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 10335703-10472326 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10391729 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 923 (A923V)
Ref Sequence ENSEMBL: ENSMUSP00000146658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]
AlphaFold G3UZ78
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: A947V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: A947V

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 benign
Transcript: ENSMUST00000179956
AA Change: A949V

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: A949V

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: A923V

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik A T 6: 149,325,701 (GRCm38) I82L probably benign Het
4921530L21Rik T G 14: 95,881,943 (GRCm38) N45K probably damaging Het
4933408B17Rik A G 18: 34,586,266 (GRCm38) V167A possibly damaging Het
Adamts8 A T 9: 30,943,511 (GRCm38) R18S probably damaging Het
Aldh1a3 A G 7: 66,400,222 (GRCm38) V416A probably damaging Het
Alox5 C T 6: 116,420,384 (GRCm38) G280R probably damaging Het
Anapc5 A T 5: 122,800,632 (GRCm38) Y360N probably damaging Het
Apbb1 C T 7: 105,558,963 (GRCm38) V685I probably damaging Het
Apc2 C A 10: 80,307,455 (GRCm38) A463E probably damaging Het
Arhgap21 C T 2: 20,855,387 (GRCm38) W1170* probably null Het
Atat1 G A 17: 35,901,423 (GRCm38) R305C probably damaging Het
Cars2 T C 8: 11,550,511 (GRCm38) D56G probably benign Het
Cdc42bpb T C 12: 111,345,555 (GRCm38) I108V probably damaging Het
Cftr T A 6: 18,305,980 (GRCm38) I1255K probably damaging Het
Ckap5 T C 2: 91,550,743 (GRCm38) L148P probably damaging Het
Cntn4 A G 6: 106,679,248 (GRCm38) probably null Het
Cpe G A 8: 64,609,203 (GRCm38) P273L probably damaging Het
Cpsf7 A G 19: 10,531,782 (GRCm38) D19G probably benign Het
Ddx25 C A 9: 35,545,972 (GRCm38) R349L probably damaging Het
Depdc7 T C 2: 104,722,881 (GRCm38) D446G probably benign Het
Det1 T A 7: 78,843,935 (GRCm38) N107I probably benign Het
Dock6 A T 9: 21,844,417 (GRCm38) D170E probably benign Het
Dvl1 C T 4: 155,858,295 (GRCm38) L673F probably damaging Het
Gucy1b1 A T 3: 82,045,460 (GRCm38) I222K probably benign Het
Hfm1 T C 5: 106,917,601 (GRCm38) T71A possibly damaging Het
Ikzf1 A G 11: 11,769,223 (GRCm38) E310G probably damaging Het
Impg1 T C 9: 80,394,155 (GRCm38) E163G possibly damaging Het
Itpr2 G T 6: 146,374,456 (GRCm38) H426Q probably damaging Het
Itpripl2 C T 7: 118,490,256 (GRCm38) G360D probably benign Het
Kif14 C T 1: 136,527,305 (GRCm38) R1572C probably damaging Het
L3mbtl3 A T 10: 26,302,685 (GRCm38) H568Q unknown Het
Lgi2 A G 5: 52,554,460 (GRCm38) Y173H probably damaging Het
Lpar5 A C 6: 125,081,991 (GRCm38) Y225S probably benign Het
Lpin3 A G 2: 160,903,974 (GRCm38) H675R probably damaging Het
Lrp2 C A 2: 69,448,120 (GRCm38) G3963V probably damaging Het
Man1a2 G T 3: 100,684,575 (GRCm38) D13E possibly damaging Het
Map1a T C 2: 121,308,014 (GRCm38) V2753A probably damaging Het
Mitf C A 6: 98,003,904 (GRCm38) N97K probably damaging Het
Msh2 A G 17: 87,672,810 (GRCm38) probably null Het
Msr1 T C 8: 39,620,000 (GRCm38) E170G probably damaging Het
Myrip C A 9: 120,388,236 (GRCm38) R79S probably damaging Het
Nek10 G A 14: 14,857,782 (GRCm38) probably null Het
Neto1 C T 18: 86,404,729 (GRCm38) R104* probably null Het
Nom1 A C 5: 29,451,100 (GRCm38) K821T probably damaging Het
Nrxn1 A G 17: 90,704,181 (GRCm38) V340A probably damaging Het
Nxpe4 A T 9: 48,396,597 (GRCm38) I334F probably benign Het
Olfr1043 T A 2: 86,162,091 (GRCm38) N286I probably damaging Het
Olfr1065 C T 2: 86,445,129 (GRCm38) M284I probably benign Het
Olfr1247 T C 2: 89,609,374 (GRCm38) M243V probably benign Het
Olfr1489 T C 19: 13,633,336 (GRCm38) V75A probably damaging Het
Olfr382 A G 11: 73,516,927 (GRCm38) S91P probably benign Het
Olfr705 T C 7: 106,713,977 (GRCm38) K235E probably benign Het
Padi4 A G 4: 140,757,585 (GRCm38) S322P probably damaging Het
Peli3 A G 19: 4,941,782 (GRCm38) Y44H probably damaging Het
Prdm4 A G 10: 85,907,903 (GRCm38) S163P probably damaging Het
Prom2 T C 2: 127,539,525 (GRCm38) D227G probably benign Het
Ptgfr C T 3: 151,801,763 (GRCm38) R321H probably benign Het
Rgs3 G A 4: 62,625,906 (GRCm38) R136H probably damaging Het
Rgsl1 T G 1: 153,844,107 (GRCm38) N3T possibly damaging Het
Rif1 T C 2: 52,112,563 (GRCm38) S2010P probably benign Het
Rngtt T C 4: 33,368,690 (GRCm38) F408L probably damaging Het
Rtn3 T G 19: 7,457,593 (GRCm38) T326P probably benign Het
Slc18b1 A C 10: 23,806,038 (GRCm38) M167L probably benign Het
Slc22a26 A G 19: 7,788,210 (GRCm38) probably null Het
Slitrk6 T C 14: 110,751,885 (GRCm38) D130G probably damaging Het
Snap47 A G 11: 59,428,613 (GRCm38) V233A probably benign Het
Sumf1 A C 6: 108,144,671 (GRCm38) Y158D probably damaging Het
Tbc1d15 A T 10: 115,220,310 (GRCm38) H252Q probably benign Het
Thsd7b T C 1: 130,188,526 (GRCm38) S1339P possibly damaging Het
Tmem45a2 T C 16: 57,049,414 (GRCm38) I56V probably benign Het
Ttc21b A G 2: 66,236,233 (GRCm38) S359P probably benign Het
Ttc27 T C 17: 74,729,977 (GRCm38) I215T probably benign Het
Ttn C T 2: 76,724,195 (GRCm38) V30759I possibly damaging Het
Vdac3 T C 8: 22,580,388 (GRCm38) N168S probably damaging Het
Wdr7 T C 18: 63,865,300 (GRCm38) V1106A probably benign Het
Wrap73 T A 4: 154,142,491 (GRCm38) F16Y probably damaging Het
Zfat C A 15: 68,180,803 (GRCm38) D381Y probably damaging Het
Other mutations in Adgb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Adgb APN 10 10,406,099 (GRCm38) missense possibly damaging 0.87
IGL01083:Adgb APN 10 10,407,554 (GRCm38) missense possibly damaging 0.50
IGL03064:Adgb APN 10 10,400,572 (GRCm38) missense probably benign 0.02
R0080:Adgb UTSW 10 10,377,839 (GRCm38) splice site probably benign
R0084:Adgb UTSW 10 10,396,344 (GRCm38) missense possibly damaging 0.74
R0112:Adgb UTSW 10 10,407,158 (GRCm38) splice site probably benign
R0348:Adgb UTSW 10 10,357,879 (GRCm38) missense probably benign
R0415:Adgb UTSW 10 10,431,067 (GRCm38) splice site probably null
R1052:Adgb UTSW 10 10,442,613 (GRCm38) missense probably benign 0.29
R1248:Adgb UTSW 10 10,395,310 (GRCm38) missense probably damaging 0.98
R1278:Adgb UTSW 10 10,382,828 (GRCm38) missense probably damaging 1.00
R1568:Adgb UTSW 10 10,442,665 (GRCm38) nonsense probably null
R1647:Adgb UTSW 10 10,395,371 (GRCm38) missense probably damaging 1.00
R1648:Adgb UTSW 10 10,395,371 (GRCm38) missense probably damaging 1.00
R1663:Adgb UTSW 10 10,339,675 (GRCm38) missense possibly damaging 0.86
R1688:Adgb UTSW 10 10,350,317 (GRCm38) nonsense probably null
R1758:Adgb UTSW 10 10,426,605 (GRCm38) missense probably damaging 1.00
R1772:Adgb UTSW 10 10,382,721 (GRCm38) splice site probably benign
R1850:Adgb UTSW 10 10,442,502 (GRCm38) missense probably damaging 1.00
R1959:Adgb UTSW 10 10,395,249 (GRCm38) missense probably benign 0.02
R1980:Adgb UTSW 10 10,433,498 (GRCm38) missense probably benign
R2179:Adgb UTSW 10 10,395,274 (GRCm38) missense possibly damaging 0.94
R2229:Adgb UTSW 10 10,436,051 (GRCm38) missense probably damaging 1.00
R2283:Adgb UTSW 10 10,377,891 (GRCm38) missense probably damaging 0.99
R2870:Adgb UTSW 10 10,431,281 (GRCm38) critical splice donor site probably null
R2870:Adgb UTSW 10 10,431,281 (GRCm38) critical splice donor site probably null
R2875:Adgb UTSW 10 10,422,719 (GRCm38) missense probably damaging 1.00
R2876:Adgb UTSW 10 10,422,719 (GRCm38) missense probably damaging 1.00
R2920:Adgb UTSW 10 10,390,243 (GRCm38) missense probably damaging 1.00
R2931:Adgb UTSW 10 10,442,502 (GRCm38) missense possibly damaging 0.84
R3722:Adgb UTSW 10 10,340,510 (GRCm38) missense probably benign 0.32
R3846:Adgb UTSW 10 10,382,721 (GRCm38) splice site probably benign
R3877:Adgb UTSW 10 10,442,483 (GRCm38) critical splice donor site probably null
R4210:Adgb UTSW 10 10,407,465 (GRCm38) missense probably benign 0.06
R4211:Adgb UTSW 10 10,407,465 (GRCm38) missense probably benign 0.06
R4333:Adgb UTSW 10 10,442,502 (GRCm38) missense possibly damaging 0.84
R4448:Adgb UTSW 10 10,390,825 (GRCm38) missense probably benign 0.32
R4470:Adgb UTSW 10 10,398,951 (GRCm38) missense probably benign 0.02
R4624:Adgb UTSW 10 10,403,004 (GRCm38) missense probably benign 0.00
R4656:Adgb UTSW 10 10,405,306 (GRCm38) missense probably damaging 0.99
R4676:Adgb UTSW 10 10,426,710 (GRCm38) missense probably damaging 1.00
R4792:Adgb UTSW 10 10,398,903 (GRCm38) missense probably damaging 0.96
R4795:Adgb UTSW 10 10,357,872 (GRCm38) missense probably benign 0.01
R4858:Adgb UTSW 10 10,349,577 (GRCm38) missense probably damaging 1.00
R4985:Adgb UTSW 10 10,400,632 (GRCm38) missense possibly damaging 0.69
R5057:Adgb UTSW 10 10,357,978 (GRCm38) missense probably benign 0.11
R5157:Adgb UTSW 10 10,398,966 (GRCm38) missense probably damaging 1.00
R5209:Adgb UTSW 10 10,398,937 (GRCm38) missense possibly damaging 0.71
R5339:Adgb UTSW 10 10,442,606 (GRCm38) missense probably damaging 1.00
R5376:Adgb UTSW 10 10,346,563 (GRCm38) missense probably benign 0.09
R5426:Adgb UTSW 10 10,350,260 (GRCm38) missense probably benign 0.14
R5516:Adgb UTSW 10 10,431,157 (GRCm38) missense probably damaging 1.00
R5554:Adgb UTSW 10 10,340,473 (GRCm38) missense probably damaging 0.98
R5678:Adgb UTSW 10 10,431,326 (GRCm38) missense possibly damaging 0.83
R5707:Adgb UTSW 10 10,391,757 (GRCm38) missense probably damaging 1.00
R5708:Adgb UTSW 10 10,391,757 (GRCm38) missense probably damaging 1.00
R5891:Adgb UTSW 10 10,377,847 (GRCm38) nonsense probably null
R5928:Adgb UTSW 10 10,378,787 (GRCm38) missense probably damaging 1.00
R6005:Adgb UTSW 10 10,395,352 (GRCm38) missense probably damaging 1.00
R6017:Adgb UTSW 10 10,450,036 (GRCm38) missense probably damaging 1.00
R6049:Adgb UTSW 10 10,378,026 (GRCm38) missense probably damaging 1.00
R6118:Adgb UTSW 10 10,431,291 (GRCm38) missense probably damaging 1.00
R6175:Adgb UTSW 10 10,398,943 (GRCm38) missense possibly damaging 0.94
R6186:Adgb UTSW 10 10,422,758 (GRCm38) missense probably damaging 1.00
R6234:Adgb UTSW 10 10,353,080 (GRCm38) splice site probably null
R6383:Adgb UTSW 10 10,450,028 (GRCm38) missense probably damaging 1.00
R6522:Adgb UTSW 10 10,377,892 (GRCm38) nonsense probably null
R6639:Adgb UTSW 10 10,435,956 (GRCm38) missense possibly damaging 0.51
R6697:Adgb UTSW 10 10,406,126 (GRCm38) nonsense probably null
R6742:Adgb UTSW 10 10,411,849 (GRCm38) missense probably damaging 1.00
R6745:Adgb UTSW 10 10,390,197 (GRCm38) missense probably damaging 1.00
R6850:Adgb UTSW 10 10,394,574 (GRCm38) missense probably benign 0.39
R7128:Adgb UTSW 10 10,472,241 (GRCm38) missense probably benign 0.26
R7326:Adgb UTSW 10 10,400,574 (GRCm38) missense possibly damaging 0.80
R7386:Adgb UTSW 10 10,377,949 (GRCm38) missense possibly damaging 0.52
R7431:Adgb UTSW 10 10,391,955 (GRCm38) splice site probably null
R7569:Adgb UTSW 10 10,431,252 (GRCm38) missense probably benign
R7579:Adgb UTSW 10 10,410,818 (GRCm38) nonsense probably null
R7582:Adgb UTSW 10 10,390,821 (GRCm38) missense probably damaging 1.00
R7615:Adgb UTSW 10 10,436,010 (GRCm38) missense probably damaging 0.96
R7692:Adgb UTSW 10 10,411,712 (GRCm38) critical splice donor site probably null
R7774:Adgb UTSW 10 10,339,660 (GRCm38) nonsense probably null
R7808:Adgb UTSW 10 10,378,659 (GRCm38) splice site probably null
R8158:Adgb UTSW 10 10,378,734 (GRCm38) missense probably benign 0.22
R8386:Adgb UTSW 10 10,350,304 (GRCm38) missense probably damaging 1.00
R8746:Adgb UTSW 10 10,405,284 (GRCm38) critical splice donor site probably null
R8785:Adgb UTSW 10 10,357,966 (GRCm38) missense probably damaging 1.00
R9089:Adgb UTSW 10 10,442,688 (GRCm38) missense probably benign 0.26
R9140:Adgb UTSW 10 10,340,519 (GRCm38) nonsense probably null
R9386:Adgb UTSW 10 10,398,964 (GRCm38) missense probably benign 0.00
R9777:Adgb UTSW 10 10,407,470 (GRCm38) missense possibly damaging 0.74
X0003:Adgb UTSW 10 10,394,630 (GRCm38) missense possibly damaging 0.76
Z1176:Adgb UTSW 10 10,378,742 (GRCm38) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CTCGGGAGCCATCTGGGATAGAG -3'
(R):5'- GCCTAGAACCTTCTTACTTGGGGATTG -3'

Sequencing Primer
(F):5'- AGGGCATTGTAGCCACAC -3'
(R):5'- ccacatccattcacaaccttc -3'
Posted On 2013-07-11