Incidental Mutation 'R7615:Adgb'
ID 588856
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 045683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7615 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 10335703-10472326 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10436010 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 226 (L226F)
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: L226F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: L226F

DomainStartEndE-ValueType
CysPc 56 655 2.7e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172530
AA Change: L226F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: L226F

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: L226F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: L226F

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 damaging
Transcript: ENSMUST00000208717
AA Change: L220F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (101/101)
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik T C 7: 43,497,849 (GRCm38) I320V possibly damaging Het
Adat2 A G 10: 13,553,276 (GRCm38) K4R probably benign Het
Adgrb3 C T 1: 25,098,897 (GRCm38) V1192I probably damaging Het
Ahsa2 T A 11: 23,496,750 (GRCm38) N71I possibly damaging Het
Amigo2 T G 15: 97,245,342 (GRCm38) T400P probably damaging Het
Ankhd1 A T 18: 36,656,773 (GRCm38) Q466L Het
Auh T C 13: 52,919,013 (GRCm38) I111V probably benign Het
Brwd1 A G 16: 96,033,839 (GRCm38) F942L probably damaging Het
C1qtnf7 A G 5: 43,616,144 (GRCm38) N262D probably damaging Het
Cdh9 T A 15: 16,856,230 (GRCm38) S785R probably damaging Het
Celsr3 A G 9: 108,837,652 (GRCm38) T2046A possibly damaging Het
Cep170b T C 12: 112,744,665 (GRCm38) V1493A probably damaging Het
Cep290 C T 10: 100,492,681 (GRCm38) R111W probably benign Het
Chd2 T A 7: 73,441,642 (GRCm38) H1617L probably damaging Het
Ciao3 C T 17: 25,782,129 (GRCm38) P452S probably benign Het
Clnk T C 5: 38,706,698 (GRCm38) D404G probably damaging Het
Col18a1 C T 10: 77,067,005 (GRCm38) G795D probably damaging Het
Csf3r T A 4: 126,037,656 (GRCm38) Y477* probably null Het
Dnah17 T A 11: 118,110,547 (GRCm38) K857* probably null Het
Dnah2 T G 11: 69,435,304 (GRCm38) I3674L probably damaging Het
Dnah6 A C 6: 73,095,206 (GRCm38) I2431S possibly damaging Het
Eml6 T A 11: 29,802,501 (GRCm38) I971F possibly damaging Het
Fam135b A T 15: 71,463,323 (GRCm38) I674N probably damaging Het
Fancc T A 13: 63,317,558 (GRCm38) probably null Het
Gabrb2 A C 11: 42,626,742 (GRCm38) K464Q probably benign Het
Gbp4 T A 5: 105,122,982 (GRCm38) D261V possibly damaging Het
Gdf3 A G 6: 122,606,916 (GRCm38) V164A probably benign Het
Gm19410 A G 8: 35,796,359 (GRCm38) D978G probably damaging Het
Gm20730 C T 6: 43,081,774 (GRCm38) G35R probably null Het
Grin2b G A 6: 135,923,364 (GRCm38) T173I probably damaging Het
Gtf3c3 A T 1: 54,423,572 (GRCm38) V344E possibly damaging Het
Hsd3b5 A G 3: 98,630,104 (GRCm38) I32T probably damaging Het
Ido1 G C 8: 24,593,188 (GRCm38) L74V probably damaging Het
Igkv1-88 T A 6: 68,862,373 (GRCm38) D85V probably damaging Het
Il22ra1 A G 4: 135,737,459 (GRCm38) I159V probably benign Het
Iqgap1 A G 7: 80,751,346 (GRCm38) V531A probably benign Het
Iqgap1 A T 7: 80,730,100 (GRCm38) F1175Y probably damaging Het
Itga1 T A 13: 114,996,922 (GRCm38) Q484L probably null Het
Itga11 A T 9: 62,744,018 (GRCm38) E281V probably benign Het
Kpna3 T C 14: 61,372,962 (GRCm38) N343S possibly damaging Het
Larp1b A G 3: 41,033,534 (GRCm38) K64E possibly damaging Het
Larp1b A G 3: 41,035,816 (GRCm38) N133S probably benign Het
Lctl T A 9: 64,122,110 (GRCm38) L161H probably damaging Het
Mlip A G 9: 77,230,483 (GRCm38) S381P probably damaging Het
Mroh9 A G 1: 163,046,032 (GRCm38) I518T probably benign Het
Mst1r A G 9: 107,920,012 (GRCm38) Q1360R probably benign Het
Muc5b T A 7: 141,864,892 (GRCm38) C3858* probably null Het
Naip1 A T 13: 100,425,776 (GRCm38) H960Q probably benign Het
Neo1 A T 9: 58,884,503 (GRCm38) S1321T probably benign Het
Nid2 C A 14: 19,802,530 (GRCm38) T1102K probably damaging Het
Nsmaf C T 4: 6,408,563 (GRCm38) V739M probably damaging Het
Or1o2 T G 17: 37,231,450 (GRCm38) K307Q probably benign Het
Or4k15 T G 14: 50,126,989 (GRCm38) S137R probably benign Het
Or5ar1 T A 2: 85,841,657 (GRCm38) M45L probably benign Het
Or5b110-ps1 A G 19: 13,282,590 (GRCm38) I156T probably damaging Het
Or5d39 T C 2: 88,149,518 (GRCm38) Q167R probably benign Het
Osbpl9 G A 4: 109,086,339 (GRCm38) P159S probably damaging Het
Parpbp A G 10: 88,093,637 (GRCm38) S450P probably damaging Het
Pdgfrb A G 18: 61,064,046 (GRCm38) T185A probably benign Het
Pkd1 T C 17: 24,593,502 (GRCm38) V3803A probably damaging Het
Plau A T 14: 20,839,466 (GRCm38) K200* probably null Het
Plce1 A T 19: 38,524,665 (GRCm38) Q136L probably benign Het
Plekhd1 C T 12: 80,722,445 (GRCm38) T493I probably benign Het
Pofut1 T C 2: 153,259,418 (GRCm38) S31P unknown Het
Prlr T A 15: 10,325,924 (GRCm38) I243N probably damaging Het
Ptgis A G 2: 167,223,988 (GRCm38) L174P probably damaging Het
Ralgapb T A 2: 158,450,270 (GRCm38) I792K probably damaging Het
Retreg3 C T 11: 101,102,980 (GRCm38) S136N probably damaging Het
Rigi T A 4: 40,229,653 (GRCm38) I89F possibly damaging Het
Rnf213 C T 11: 119,467,297 (GRCm38) T4291M Het
Rtn1 A G 12: 72,304,143 (GRCm38) Y431H probably damaging Het
Rwdd3 A G 3: 121,171,604 (GRCm38) probably benign Het
Scyl3 A T 1: 163,950,338 (GRCm38) probably null Het
Sh2b2 G T 5: 136,219,657 (GRCm38) Q510K probably damaging Het
Sh2b3 G A 5: 121,818,700 (GRCm38) P333S probably benign Het
Sirpd A G 3: 15,320,485 (GRCm38) V119A probably damaging Het
Slc27a6 A T 18: 58,609,183 (GRCm38) N490Y probably damaging Het
Slc45a1 C T 4: 150,638,545 (GRCm38) R294Q probably benign Het
Sorl1 A C 9: 41,977,582 (GRCm38) I1974S possibly damaging Het
Specc1l C A 10: 75,263,286 (GRCm38) N857K probably benign Het
Speg T C 1: 75,429,242 (GRCm38) L3030P probably damaging Het
Spsb1 A C 4: 149,906,900 (GRCm38) D70E probably benign Het
Srsf11 A G 3: 158,016,425 (GRCm38) S270P unknown Het
Ssr3 A C 3: 65,387,792 (GRCm38) V100G probably damaging Het
Synpo G A 18: 60,604,475 (GRCm38) T133I probably damaging Het
Tas2r120 T G 6: 132,657,810 (GRCm38) V285G probably benign Het
Tenm4 T A 7: 96,845,926 (GRCm38) V1187D probably damaging Het
Tmed8 C A 12: 87,181,388 (GRCm38) probably null Het
Tmem51 G A 4: 142,037,564 (GRCm38) T61M probably damaging Het
Tonsl A T 15: 76,630,607 (GRCm38) D1132E probably benign Het
Tor1aip1 C T 1: 156,007,584 (GRCm38) V358I possibly damaging Het
Txlna A T 4: 129,630,319 (GRCm38) M415K probably damaging Het
Tyms T A 5: 30,073,560 (GRCm38) probably benign Het
Uggt2 G T 14: 119,089,269 (GRCm38) L177I probably benign Het
Uqcrh T C 4: 116,069,879 (GRCm38) H74R probably benign Het
Wnk1 A T 6: 119,932,738 (GRCm38) S33T probably benign Het
Zfp553 T A 7: 127,236,016 (GRCm38) C248S probably damaging Het
Zfp574 G A 7: 25,080,576 (GRCm38) C341Y possibly damaging Het
Zfp729b T C 13: 67,591,498 (GRCm38) T883A possibly damaging Het
Zfp738 T A 13: 67,670,203 (GRCm38) K556N 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
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
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'- ACCTGTGCTGTGATCACATTAAC -3'
(R):5'- GCATATGTCTGTATCAGCAGTAATC -3'

Sequencing Primer
(F):5'- TTACATTGTGTAGAAGGAAAGATTCC -3'
(R):5'- GCTTCATTTTATGCTCAAAAGGC -3'
Posted On 2019-10-24