Incidental Mutation 'R2920:Adgb'
ID 255479
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 040505-MU
Accession Numbers

MGI:3605549

Essential gene? Non essential (E-score: 0.000) question?
Stock # R2920 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10335703-10472326 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10390243 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1025 (Y1025H)
Ref Sequence ENSEMBL: ENSMUSP00000136386 (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 damaging
Transcript: ENSMUST00000172530
AA Change: Y1023H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: Y1023H

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: Y1025H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: Y1025H

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: Y999H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1553 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,448,865 (GRCm38) A4122T probably benign Het
Aloxe3 C T 11: 69,142,923 (GRCm38) T621I probably damaging Het
Atp2b3 A C X: 73,533,920 (GRCm38) T318P probably benign Het
Atrx A T X: 105,830,868 (GRCm38) V1962D probably benign Het
Chl1 C A 6: 103,695,343 (GRCm38) T531K probably damaging Het
Clca3b C T 3: 144,846,931 (GRCm38) D115N probably benign Het
Clca3b T A 3: 144,837,853 (GRCm38) D405V probably benign Het
Comtd1 A G 14: 21,847,618 (GRCm38) L149P possibly damaging Het
Cops7a A G 6: 124,962,362 (GRCm38) V108A probably benign Het
Crebbp A G 16: 4,119,082 (GRCm38) V343A probably damaging Het
Edrf1 T A 7: 133,667,572 (GRCm38) D1109E probably benign Het
Elmo3 A G 8: 105,308,059 (GRCm38) E359G possibly damaging Het
Ep400 C A 5: 110,755,914 (GRCm38) G273V probably damaging Het
Fgfr3 A G 5: 33,733,940 (GRCm38) N516S probably damaging Het
Glb1l T A 1: 75,209,190 (GRCm38) E31D probably benign Het
Gm10093 A G 17: 78,492,846 (GRCm38) D422G probably damaging Het
Il12rb2 C T 6: 67,360,568 (GRCm38) V110I probably damaging Het
Ints3 T C 3: 90,393,162 (GRCm38) E884G probably benign Het
Lin7b A G 7: 45,368,397 (GRCm38) V170A possibly damaging Het
Lrch2 A T X: 147,473,030 (GRCm38) V750E probably damaging Het
Mepe C T 5: 104,338,247 (GRCm38) R418C probably damaging Het
Mettl25 A T 10: 105,765,177 (GRCm38) probably null Het
Mphosph9 G A 5: 124,261,006 (GRCm38) T982I probably benign Het
Mslnl G A 17: 25,742,934 (GRCm38) V128M probably damaging Het
Myo10 G T 15: 25,801,140 (GRCm38) V1472L probably damaging Het
Myo9b A G 8: 71,325,857 (GRCm38) K445R probably damaging Het
Ntng2 T C 2: 29,204,211 (GRCm38) M383V probably benign Het
Olfr1353 A C 10: 78,970,012 (GRCm38) D121A probably damaging Het
Olfr30 T C 11: 58,455,577 (GRCm38) Y124C probably damaging Het
Olfr702 C T 7: 106,824,364 (GRCm38) R54Q probably benign Het
Pak6 A T 2: 118,694,007 (GRCm38) probably benign Het
Pcdh8 G T 14: 79,768,714 (GRCm38) P803Q possibly damaging Het
Pfkfb3 C T 2: 11,484,327 (GRCm38) V286I probably benign Het
Rbp3 C T 14: 33,956,018 (GRCm38) T641M probably damaging Het
Rint1 A G 5: 23,805,402 (GRCm38) E203G probably benign Het
Sdf2 G C 11: 78,254,854 (GRCm38) V126L probably damaging Het
Slc13a5 T C 11: 72,247,791 (GRCm38) E442G possibly damaging Het
Slc14a2 G T 18: 78,158,297 (GRCm38) S669* probably null Het
Slc38a7 A G 8: 95,845,943 (GRCm38) I157T possibly damaging Het
Slc4a5 T C 6: 83,264,387 (GRCm38) L215P probably damaging Het
Tbc1d9 T C 8: 83,210,469 (GRCm38) V60A probably benign Het
Tcerg1l T C 7: 138,248,379 (GRCm38) R422G probably damaging Het
Tmem107 T C 11: 69,071,421 (GRCm38) L68P probably damaging Het
Ugt2b5 A G 5: 87,125,407 (GRCm38) F467L possibly damaging Het
Vmn1r19 A T 6: 57,404,924 (GRCm38) N154I probably benign Het
Vmn2r69 T A 7: 85,411,765 (GRCm38) I204L probably benign Het
Zbtb1 T A 12: 76,385,845 (GRCm38) S202T possibly 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
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'- AAATGGTTGCTCTCTCCCG -3'
(R):5'- TCAGTCTGTTGTCAGTTCAGATAG -3'

Sequencing Primer
(F):5'- CTCTCCCGTTGTACAGGGATG -3'
(R):5'- GTCTGTTGTCAGTTCAGATAGATATC -3'
Posted On 2014-12-29