Incidental Mutation 'R1663:Adgb'
ID 186942
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 039699-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1663 (G1)
Quality Score 203
Status Not validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10215419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1529 (M1529V)
Ref Sequence ENSEMBL: ENSMUSP00000146658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]
AlphaFold G3UZ78
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118589
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: M1553V

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: M1553V

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 possibly damaging
Transcript: ENSMUST00000179956
AA Change: M1556V

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: M1556V

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: M1529V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,177,949 (GRCm39) T11S probably benign Het
Ankrd36 T A 11: 5,570,126 (GRCm39) D531E possibly damaging Het
Ankzf1 C T 1: 75,172,914 (GRCm39) P337S probably damaging Het
Apc A G 18: 34,401,378 (GRCm39) I55V probably damaging Het
Aplnr A G 2: 84,967,038 (GRCm39) D21G possibly damaging Het
Apol10b A T 15: 77,472,914 (GRCm39) F47I probably damaging Het
Arhgef5 G A 6: 43,253,899 (GRCm39) A1131T probably damaging Het
Arrb2 A T 11: 70,328,429 (GRCm39) Q83L probably damaging Het
Atf7ip A G 6: 136,580,322 (GRCm39) Q1082R possibly damaging Het
Atl2 A G 17: 80,172,140 (GRCm39) S28P probably damaging Het
Brd7 T C 8: 89,084,651 (GRCm39) K89E possibly damaging Het
Cc2d1b A G 4: 108,480,744 (GRCm39) T55A probably damaging Het
Ccdc18 A G 5: 108,363,956 (GRCm39) E1217G probably damaging Het
Cdc42ep4 A T 11: 113,620,277 (GRCm39) M38K probably damaging Het
Cldn14 A G 16: 93,716,166 (GRCm39) S227P probably damaging Het
Clspn T A 4: 126,459,768 (GRCm39) C332S probably benign Het
Col5a1 T C 2: 27,841,488 (GRCm39) S370P unknown Het
Comp T C 8: 70,826,250 (GRCm39) L10P possibly damaging Het
Dcc A T 18: 71,959,123 (GRCm39) N216K probably damaging Het
Dcstamp C T 15: 39,618,340 (GRCm39) Q250* probably null Het
Drd5 T C 5: 38,478,198 (GRCm39) F397S probably benign Het
Dst T C 1: 34,202,466 (GRCm39) S265P probably damaging Het
Dync2i1 T C 12: 116,193,230 (GRCm39) Q574R probably benign Het
Enam A T 5: 88,651,853 (GRCm39) S1046C probably damaging Het
Eno3 T C 11: 70,553,100 (GRCm39) probably null Het
Fam13a G A 6: 58,931,357 (GRCm39) R408* probably null Het
Gipc2 T A 3: 151,799,801 (GRCm39) M310L probably benign Het
Gm14496 T C 2: 181,639,230 (GRCm39) V440A probably benign Het
Gzmg A T 14: 56,394,265 (GRCm39) C210S probably damaging Het
Helb G T 10: 119,941,338 (GRCm39) A450E probably damaging Het
Hepacam2 A T 6: 3,483,439 (GRCm39) I190N possibly damaging Het
Hk3 A T 13: 55,154,388 (GRCm39) S773T probably benign Het
Hnrnpc A G 14: 52,312,852 (GRCm39) S221P probably damaging Het
Ifna9 T C 4: 88,510,220 (GRCm39) T135A probably benign Het
Igfn1 C T 1: 135,896,046 (GRCm39) G1507R probably benign Het
Kank3 A G 17: 34,037,349 (GRCm39) T218A probably benign Het
Kcp G T 6: 29,498,964 (GRCm39) R337S possibly damaging Het
Krt74 A T 15: 101,665,109 (GRCm39) noncoding transcript Het
Lrp1 A T 10: 127,392,790 (GRCm39) D2758E probably damaging Het
Ly75 T C 2: 60,144,578 (GRCm39) E1295G probably damaging Het
Mccc1 C A 3: 36,033,082 (GRCm39) W354L probably damaging Het
Mmp1a C T 9: 7,465,657 (GRCm39) T198M probably benign Het
Mtmr2 C T 9: 13,714,797 (GRCm39) T519I probably damaging Het
Nbea A G 3: 55,553,407 (GRCm39) S2632P possibly damaging Het
Nbn T A 4: 15,970,903 (GRCm39) D295E probably benign Het
Ndufb8 T C 19: 44,538,820 (GRCm39) Y167C probably damaging Het
Nisch A G 14: 30,913,478 (GRCm39) probably benign Het
Notch3 C T 17: 32,375,093 (GRCm39) G407D probably damaging Het
Nucb1 A G 7: 45,148,288 (GRCm39) F175S probably damaging Het
Or1l8 T G 2: 36,817,346 (GRCm39) Y260S probably damaging Het
Or6c6c G A 10: 129,541,160 (GRCm39) V138M probably benign Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or8b44 T G 9: 38,410,868 (GRCm39) I301R unknown Het
Pip5k1c T C 10: 81,148,349 (GRCm39) V425A probably damaging Het
Pnisr T A 4: 21,873,857 (GRCm39) probably benign Het
Prkag1 A G 15: 98,713,776 (GRCm39) V18A probably damaging Het
Rad50 T C 11: 53,559,050 (GRCm39) N1063S probably benign Het
Rnf170 C T 8: 26,619,171 (GRCm39) H132Y probably damaging Het
Rnf213 A G 11: 119,328,498 (GRCm39) D1977G probably benign Het
Sema3a G A 5: 13,607,092 (GRCm39) probably null Het
Setx T A 2: 29,016,917 (GRCm39) C7S probably damaging Het
Slc23a2 A G 2: 131,907,384 (GRCm39) I417T probably damaging Het
Spink6 T G 18: 44,204,588 (GRCm39) F18C unknown Het
Sptbn1 T C 11: 30,070,783 (GRCm39) Q1538R possibly damaging Het
Strn3 A G 12: 51,699,609 (GRCm39) Y188H probably damaging Het
Tecpr1 C A 5: 144,134,762 (GRCm39) K1040N probably benign Het
Tll1 T A 8: 64,470,720 (GRCm39) Y901F probably benign Het
Tmem81 C T 1: 132,435,635 (GRCm39) A147V probably benign Het
Tnpo3 T C 6: 29,565,758 (GRCm39) D532G probably benign Het
Vmn2r19 T A 6: 123,313,411 (GRCm39) I827N probably benign Het
Wdr35 A G 12: 9,070,000 (GRCm39) K857R probably benign Het
Zfp110 A G 7: 12,582,569 (GRCm39) T406A probably benign Het
Zfp52 T C 17: 21,782,084 (GRCm39) L644P possibly damaging Het
Zfp605 G A 5: 110,275,451 (GRCm39) V190I probably benign Het
Zfp964 A G 8: 70,116,733 (GRCm39) probably null Het
Zmynd8 A G 2: 165,649,805 (GRCm39) S779P probably benign Het
Zswim5 T A 4: 116,844,092 (GRCm39) N1043K 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
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
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'- GCTATTTATACCGCTAGACTTACCCGC -3'
(R):5'- GCAACAGCAACAAATTCCTTTGGACCT -3'

Sequencing Primer
(F):5'- GCATCTCTCCATACATTTCCAGAAC -3'
(R):5'- ATGAGTCAGTATACAGTACCTAACC -3'
Posted On 2014-05-09