Incidental Mutation 'R5157:Adgb'
ID 396785
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 042739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5157 (G1)
Quality Score 184
Status Validated
Chromosome 10
Chromosomal Location 10335703-10472326 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 10398966 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 747 (H747L)
Ref Sequence ENSEMBL: ENSMUSP00000134378 (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 probably damaging
Transcript: ENSMUST00000172530
AA Change: H747L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: H747L

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: H749L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: H749L

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: H723L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.4376 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,686,066 (GRCm38) S2T probably benign Het
Abca3 C T 17: 24,408,122 (GRCm38) R1266C probably damaging Het
Adap2 T C 11: 80,156,946 (GRCm38) F76S probably damaging Het
Aox1 T A 1: 58,070,063 (GRCm38) V670D probably damaging Het
Ap4e1 A G 2: 127,061,695 (GRCm38) D839G probably benign Het
Arhgef11 T A 3: 87,728,510 (GRCm38) probably null Het
AY074887 T C 9: 54,950,818 (GRCm38) probably benign Het
Bicd1 C G 6: 149,520,414 (GRCm38) Q878E probably benign Het
Catspere1 A T 1: 177,879,782 (GRCm38) noncoding transcript Het
Cnmd T C 14: 79,656,686 (GRCm38) Q87R probably benign Het
Col24a1 G T 3: 145,345,951 (GRCm38) G661* probably null Het
Crtap G A 9: 114,384,792 (GRCm38) L232F probably damaging Het
Ctsq T C 13: 61,037,099 (GRCm38) T258A probably benign Het
Cyp2d26 T C 15: 82,790,989 (GRCm38) Q388R probably benign Het
Ddb1 A T 19: 10,622,364 (GRCm38) T646S probably benign Het
Dnah6 G T 6: 73,195,634 (GRCm38) S280R probably benign Het
Dzank1 T C 2: 144,483,412 (GRCm38) H545R probably damaging Het
Ehhadh T A 16: 21,766,511 (GRCm38) M207L probably benign Het
Elmo2 T A 2: 165,291,707 (GRCm38) probably benign Het
Golga3 G A 5: 110,202,671 (GRCm38) A731T probably benign Het
Igsf21 T C 4: 140,028,067 (GRCm38) T426A possibly damaging Het
Kcnf1 T C 12: 17,174,741 (GRCm38) E493G probably benign Het
Lmna A T 3: 88,484,107 (GRCm38) D364E probably damaging Het
Lsr T C 7: 30,966,040 (GRCm38) Y163C probably damaging Het
Map3k20 A T 2: 72,438,214 (GRCm38) T522S probably benign Het
Mpp5 T A 12: 78,820,815 (GRCm38) M324K possibly damaging Het
Mroh9 C A 1: 163,044,121 (GRCm38) A598S probably damaging Het
Msln T C 17: 25,752,983 (GRCm38) M87V probably benign Het
Olfr1155 T A 2: 87,942,888 (GRCm38) M247L probably benign Het
Olfr1197 T A 2: 88,729,548 (GRCm38) Q17L probably benign Het
Olfr292 A G 7: 86,695,232 (GRCm38) K259E probably benign Het
Olfr385 T C 11: 73,589,723 (GRCm38) N5S probably damaging Het
Plekhg5 T A 4: 152,107,865 (GRCm38) probably benign Het
Pprc1 G T 19: 46,064,758 (GRCm38) probably benign Het
Ptprm T A 17: 66,957,097 (GRCm38) K385I probably benign Het
Rfxap T A 3: 54,804,517 (GRCm38) N215I probably damaging Het
Slc16a7 A T 10: 125,233,464 (GRCm38) Y114* probably null Het
Smarcb1 G T 10: 75,911,794 (GRCm38) probably benign Het
Spef2 T A 15: 9,668,791 (GRCm38) R770* probably null Het
Stard9 A T 2: 120,697,861 (GRCm38) Y1533F probably benign Het
Tbcd A T 11: 121,610,027 (GRCm38) Y1142F probably benign Het
Ttc23l G T 15: 10,551,550 (GRCm38) T30K possibly damaging Het
Uba7 G A 9: 107,980,047 (GRCm38) V703I probably benign Het
Upb1 T C 10: 75,412,804 (GRCm38) S53P possibly damaging Het
Zfp672 A G 11: 58,316,851 (GRCm38) S215P possibly damaging Het
Zfp978 T A 4: 147,390,980 (GRCm38) L328H 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
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'- GGTTCTCAGAGATCACACCTC -3'
(R):5'- GTGCAAATCTAGGTAGTTATCCCTTC -3'

Sequencing Primer
(F):5'- GATCACACCTCACCATTTATTAGAGG -3'
(R):5'- CTGATCAGGCAACTAGCA -3'
Posted On 2016-06-21