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

MGI:3605549

Essential gene? Non essential (E-score: 0.000) question?
Stock # R6005 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10335703-10472326 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10395352 bp (GRCm38)
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
2810006K23Rik G T 5: 124,340,774 (GRCm38) E153* probably null Het
4930412O13Rik T C 2: 9,882,827 (GRCm38) probably benign Het
7530416G11Rik A T 15: 85,494,109 (GRCm38) I111N unknown Het
Ahnak T C 19: 9,015,161 (GRCm38) V4603A possibly damaging Het
AI464131 T A 4: 41,498,895 (GRCm38) H245L probably benign Het
Ank1 A G 8: 23,132,202 (GRCm38) D1589G probably damaging Het
Ankrd2 A G 19: 42,040,115 (GRCm38) D70G probably damaging Het
Arid2 T C 15: 96,370,972 (GRCm38) S989P probably benign Het
Bbs1 A T 19: 4,903,795 (GRCm38) Y113* probably null Het
Bfsp2 T G 9: 103,448,550 (GRCm38) K298T probably damaging Het
Bpi G A 2: 158,262,480 (GRCm38) V168I possibly damaging Het
Cacna2d1 T C 5: 16,361,821 (GRCm38) S921P probably damaging Het
Clec4d A C 6: 123,267,159 (GRCm38) T76P probably damaging Het
Coq8b C T 7: 27,257,325 (GRCm38) Q468* probably null Het
Dennd6b T C 15: 89,188,168 (GRCm38) E248G possibly damaging Het
Ednra A G 8: 77,674,927 (GRCm38) S245P possibly damaging Het
Epb41l4a C T 18: 33,828,143 (GRCm38) C446Y probably benign Het
Fam221a A G 6: 49,367,822 (GRCm38) probably benign Het
Fam229a T C 4: 129,491,503 (GRCm38) S76P probably benign Het
Fryl C T 5: 73,083,295 (GRCm38) D1321N probably damaging Het
Gli2 C T 1: 118,842,064 (GRCm38) R586H probably damaging Het
Gm13089 T A 4: 143,698,432 (GRCm38) H147L probably benign Het
Gm94 C T 18: 43,792,797 (GRCm38) A16T possibly damaging Het
Gorasp2 T C 2: 70,690,751 (GRCm38) V355A probably benign Het
Grid1 C A 14: 35,323,412 (GRCm38) T404N probably damaging Het
Gtf2i C A 5: 134,255,958 (GRCm38) E475* probably null Het
Gucy1a2 T C 9: 3,865,518 (GRCm38) probably null Het
Hs3st5 T A 10: 36,832,928 (GRCm38) I153N probably damaging Het
Il11ra1 T C 4: 41,763,887 (GRCm38) probably null Het
Ireb2 G A 9: 54,908,805 (GRCm38) G887S probably damaging Het
Kdsr T C 1: 106,734,581 (GRCm38) E248G probably benign Het
Lemd2 C G 17: 27,190,785 (GRCm38) R464P probably damaging Het
Lrrfip1 T C 1: 91,114,611 (GRCm38) V246A probably damaging Het
Macf1 T A 4: 123,474,275 (GRCm38) D2231V possibly damaging Het
Map2k5 C T 9: 63,281,019 (GRCm38) D283N probably damaging Het
Mfsd5 A G 15: 102,281,492 (GRCm38) D433G possibly damaging Het
Mir700 C A 4: 135,412,307 (GRCm38) probably null Het
Mroh9 A T 1: 163,075,677 (GRCm38) F52L probably damaging Het
Mycbp2 A C 14: 103,156,723 (GRCm38) S2691A probably benign Het
Nktr T A 9: 121,748,394 (GRCm38) probably benign Het
Obsl1 C A 1: 75,492,215 (GRCm38) probably null Het
Olfr1130 A T 2: 87,608,080 (GRCm38) I231F probably damaging Het
Olfr251 T C 9: 38,378,309 (GRCm38) S137P probably damaging Het
Olfr259 A G 2: 87,108,063 (GRCm38) V108A probably benign Het
Olfr582 A T 7: 103,041,646 (GRCm38) I51F probably damaging Het
Olfr855 C T 9: 19,584,885 (GRCm38) T116I probably benign Het
Pcdhb22 T A 18: 37,519,736 (GRCm38) I162N possibly damaging Het
Pde1c A T 6: 56,479,202 (GRCm38) probably null Het
Pds5b A G 5: 150,769,776 (GRCm38) probably null Het
Pkd1l1 A C 11: 8,857,113 (GRCm38) W1568G probably damaging Het
Polr3c A T 3: 96,719,468 (GRCm38) M258K possibly damaging Het
Prss12 A T 3: 123,482,768 (GRCm38) I349F probably benign Het
Ptpn21 A G 12: 98,678,552 (GRCm38) *1177Q probably null Het
Rgs22 T A 15: 36,010,567 (GRCm38) K1125M probably benign Het
Rnf182 A G 13: 43,668,035 (GRCm38) K21E probably damaging Het
Rpl6 G A 5: 121,205,514 (GRCm38) probably benign Het
Samsn1 C T 16: 75,873,514 (GRCm38) V234I probably benign Het
Scrib A G 15: 76,057,751 (GRCm38) I1089T probably damaging Het
Sec31a T C 5: 100,363,878 (GRCm38) T1092A probably damaging Het
Sh3bp2 G T 5: 34,562,465 (GRCm38) R606L possibly damaging Het
Sipa1 A G 19: 5,656,201 (GRCm38) V367A probably damaging Het
Slc25a44 C T 3: 88,412,846 (GRCm38) E269K probably damaging Het
Slc44a4 T A 17: 34,923,454 (GRCm38) M353K possibly damaging Het
Sorcs2 A G 5: 36,019,384 (GRCm38) S1142P probably damaging Het
Sptbn4 A G 7: 27,418,599 (GRCm38) F352L probably damaging Het
Synj1 A T 16: 90,969,286 (GRCm38) N541K probably damaging Het
Tas2r113 G A 6: 132,893,696 (GRCm38) R229K probably benign Het
Tcaf3 A T 6: 42,589,971 (GRCm38) I728K probably benign Het
Tcea1 A G 1: 4,890,773 (GRCm38) E167G probably benign Het
Timeless G A 10: 128,244,200 (GRCm38) R406H probably damaging Het
Traf6 C T 2: 101,696,684 (GRCm38) R260* probably null Het
Traj31 C T 14: 54,187,931 (GRCm38) probably benign Het
Ttn A T 2: 76,769,563 (GRCm38) V19089D probably damaging Het
Unc80 C T 1: 66,627,257 (GRCm38) S1868L possibly damaging Het
Wdr38 A T 2: 39,001,321 (GRCm38) I287F possibly damaging Het
Wnt2 G A 6: 18,030,323 (GRCm38) probably benign Het
Wnt5b G A 6: 119,433,654 (GRCm38) P288L probably benign Het
Xkr5 G T 8: 18,934,505 (GRCm38) N174K probably benign Het
Zbtb6 C T 2: 37,428,965 (GRCm38) R317Q probably damaging Het
Zcchc7 AGGGG AGGG 4: 44,931,218 (GRCm38) probably null Het
Zfp647 G A 15: 76,912,085 (GRCm38) P125L 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
R0633:Adgb UTSW 10 10,391,729 (GRCm38) missense probably benign 0.36
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
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'- TACACAAGAGCTGAGCACAG -3'
(R):5'- GAATTGGCAATGACAAATGTCCAC -3'

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