Incidental Mutation 'R4792:Adgb'
ID 368691
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 042419-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4792 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 10274647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 770 (T770I)
Ref Sequence ENSEMBL: ENSMUSP00000136386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045328] [ENSMUST00000132573] [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: ENSMUST00000132573
SMART Domains Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994

DomainStartEndE-ValueType
CysPc 56 655 2.7e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148816
SMART Domains Protein: ENSMUSP00000133652
Gene: ENSMUSG00000050994

DomainStartEndE-ValueType
Blast:CysPc 1 41 1e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000172530
AA Change: T768I

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: T768I

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: T770I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: T770I

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: T744I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik A G 16: 88,504,651 (GRCm39) S49P possibly damaging Het
Abcb1a T C 5: 8,796,657 (GRCm39) probably null Het
Adgre4 A T 17: 56,098,491 (GRCm39) T134S probably benign Het
Aldh1a1 A G 19: 20,597,349 (GRCm39) N110S probably damaging Het
Alox5 C A 6: 116,437,964 (GRCm39) V8L possibly damaging Het
Ambra1 A G 2: 91,603,191 (GRCm39) T392A possibly damaging Het
Apob A G 12: 8,058,051 (GRCm39) I2145V probably benign Het
Arhgap39 A G 15: 76,625,717 (GRCm39) Y196H possibly damaging Het
Armh2 A G 13: 24,930,490 (GRCm39) probably benign Het
Carmil1 A G 13: 24,251,173 (GRCm39) L439S probably damaging Het
Carmil1 A T 13: 24,325,659 (GRCm39) S224T possibly damaging Het
Cfh G A 1: 140,028,561 (GRCm39) Q706* probably null Het
Chd2 A C 7: 73,118,325 (GRCm39) S1098A probably benign Het
Chrna5 A T 9: 54,911,985 (GRCm39) I158F probably damaging Het
Cilk1 A G 9: 78,060,975 (GRCm39) D207G probably damaging Het
Col6a5 T C 9: 105,807,983 (GRCm39) T1022A unknown Het
Cul7 T A 17: 46,967,976 (GRCm39) Y423* probably null Het
Cyp2e1 T C 7: 140,353,588 (GRCm39) Y342H probably benign Het
D630045J12Rik T C 6: 38,125,275 (GRCm39) K1580E probably damaging Het
Dnah6 A G 6: 73,066,651 (GRCm39) M2573T probably damaging Het
Dnai4 T C 4: 102,929,881 (GRCm39) K370R possibly damaging Het
Edem1 T A 6: 108,805,707 (GRCm39) probably benign Het
Erp29 C T 5: 121,585,237 (GRCm39) E86K probably benign Het
Esrp2 C A 8: 106,859,141 (GRCm39) R535L probably damaging Het
Gabrb2 C T 11: 42,420,330 (GRCm39) probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Herc1 T A 9: 66,403,266 (GRCm39) V4395E possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgb2 G A 8: 57,966,344 (GRCm39) C106Y probably damaging Het
Hoxa10 T C 6: 52,209,481 (GRCm39) probably benign Het
Hsd3b1 T A 3: 98,760,226 (GRCm39) Y255F probably benign Het
Ighd T C 12: 113,379,819 (GRCm39) K42E probably benign Het
Ighv1-26 T C 12: 114,752,191 (GRCm39) Y51C possibly damaging Het
Ighv5-2 C T 12: 113,542,419 (GRCm39) E19K possibly damaging Het
Ipo11 T C 13: 106,970,668 (GRCm39) probably benign Het
Itk C T 11: 46,235,658 (GRCm39) probably benign Het
Kat6a T A 8: 23,430,592 (GRCm39) H1982Q unknown Het
Kdm4d C T 9: 14,374,686 (GRCm39) V391I probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lgr6 T A 1: 134,949,544 (GRCm39) S229C probably benign Het
Lhx9 T A 1: 138,766,089 (GRCm39) Y233F possibly damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mapk4 T C 18: 74,070,321 (GRCm39) T191A probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naglu C T 11: 100,961,932 (GRCm39) T135M probably damaging Het
Nomo1 T A 7: 45,693,643 (GRCm39) probably null Het
Nop56 T A 2: 130,119,784 (GRCm39) V75E possibly damaging Het
Nr1i3 G A 1: 171,046,164 (GRCm39) C283Y probably damaging Het
Or4x6 T A 2: 89,949,174 (GRCm39) Y256F possibly damaging Het
Or51d1 G A 7: 102,347,933 (GRCm39) G163R probably damaging Het
Or6c38 T G 10: 128,929,489 (GRCm39) Y118S probably damaging Het
Pcdhga2 A G 18: 37,802,452 (GRCm39) S99G probably benign Het
Pcnx1 T A 12: 81,965,925 (GRCm39) D697E probably damaging Het
Plxnb1 G A 9: 108,939,716 (GRCm39) D1462N probably damaging Het
Pnn G T 12: 59,118,991 (GRCm39) V525F possibly damaging Het
Prrc2a A T 17: 35,375,463 (GRCm39) D1062E probably damaging Het
Prss35 T A 9: 86,637,722 (GRCm39) V164E probably damaging Het
Psapl1 T C 5: 36,362,547 (GRCm39) S380P probably benign Het
Rnf222 A T 11: 68,783,845 (GRCm39) E137D probably damaging Het
Rsph10b A G 5: 143,874,135 (GRCm39) T79A probably damaging Het
Sbf2 T C 7: 109,950,817 (GRCm39) Q1164R probably damaging Het
Scn7a T C 2: 66,556,592 (GRCm39) D331G probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Sspo G A 6: 48,438,519 (GRCm39) S1529N probably benign Het
St8sia3 T A 18: 64,398,634 (GRCm39) V31E probably benign Het
Sult1b1 A T 5: 87,662,906 (GRCm39) W265R probably damaging Het
Supt5 G T 7: 28,015,754 (GRCm39) Q863K probably benign Het
Tbc1d31 A G 15: 57,804,124 (GRCm39) R380G probably benign Het
Tdpoz1 T A 3: 93,577,845 (GRCm39) D313V possibly damaging Het
Tmem260 CAGGGACCGGCATAG CAG 14: 48,749,451 (GRCm39) probably benign Het
Tpx2 A T 2: 152,727,016 (GRCm39) T428S probably damaging Het
Trip11 A T 12: 101,851,705 (GRCm39) H786Q probably benign Het
Trpc6 A T 9: 8,626,615 (GRCm39) M322L probably benign Het
Try10 T C 6: 41,332,386 (GRCm39) V14A probably benign Het
Unc13d A T 11: 115,961,108 (GRCm39) F416L probably damaging Het
Vmn2r75 A T 7: 85,812,378 (GRCm39) M547K possibly damaging Het
Zbp1 A G 2: 173,051,006 (GRCm39) F288S probably damaging Het
Zc3h11a T A 1: 133,568,436 (GRCm39) Q71L probably damaging Het
Zfp40 G A 17: 23,396,008 (GRCm39) T193I possibly damaging Het
Zfp607a T C 7: 27,578,078 (GRCm39) Y383H probably benign Het
Zfp622 T A 15: 25,987,128 (GRCm39) Y82* probably null Het
Zfp964 T C 8: 70,116,665 (GRCm39) F422L probably benign 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
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'- GGTTCTCAGAGATCACACCTCAC -3'
(R):5'- GCAAATCTAGGTAGTTATCCCTTCTG -3'

Sequencing Primer
(F):5'- GATCACACCTCACCATTTATTAGAGG -3'
(R):5'- ACTTCCAAAGTTAACTCTTCACTAAC -3'
Posted On 2016-02-04