Incidental Mutation 'R0080:Adgb'
ID 19642
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 038367-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0080 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 10253583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146658 (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 benign
Transcript: ENSMUST00000172530
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994

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 benign
Transcript: ENSMUST00000179956
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994

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 benign
Transcript: ENSMUST00000208717
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 93.1%
  • 20x: 79.7%
Validation Efficiency 88% (175/200)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC 10: 95,630,440 (GRCm39) probably null Het
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Coro7 A T 16: 4,448,328 (GRCm39) L714Q probably damaging Het
D2hgdh A G 1: 93,754,177 (GRCm39) Y50C probably damaging Het
Dsg1b T G 18: 20,530,424 (GRCm39) S360A probably damaging Het
Ednra T C 8: 78,401,688 (GRCm39) I201V probably benign Het
Ggt6 A G 11: 72,328,021 (GRCm39) T136A possibly damaging Het
Gnb5 A T 9: 75,221,636 (GRCm39) E28V possibly damaging Het
Golgb1 T C 16: 36,718,973 (GRCm39) L293P probably damaging Het
Gpr179 A G 11: 97,242,295 (GRCm39) V183A probably benign Het
Grk6 T C 13: 55,606,723 (GRCm39) S474P probably benign Het
Hectd4 A G 5: 121,487,435 (GRCm39) S3477G probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Irx3 T C 8: 92,526,954 (GRCm39) D250G possibly damaging Het
Jsrp1 T G 10: 80,646,349 (GRCm39) M70L probably benign Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Med23 T C 10: 24,788,715 (GRCm39) V1368A probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nos1 G T 5: 118,031,943 (GRCm39) C297F probably damaging Het
Oas1d G A 5: 121,054,955 (GRCm39) A176T possibly damaging Het
Odf2l A T 3: 144,830,084 (GRCm39) I19F possibly damaging Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pfkfb2 A T 1: 130,642,279 (GRCm39) S5R probably benign Het
Pign G T 1: 105,480,130 (GRCm39) A848E probably damaging Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ryr2 T A 13: 11,583,361 (GRCm39) K4764N probably damaging Het
Scgb1b19 A G 7: 32,987,067 (GRCm39) T73A probably damaging Het
Slc35d3 T C 10: 19,724,944 (GRCm39) E304G probably damaging Het
Snta1 A G 2: 154,225,757 (GRCm39) V209A probably benign Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tigd4 A G 3: 84,501,452 (GRCm39) H123R probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trim60 C T 8: 65,453,251 (GRCm39) A333T probably damaging Het
Vmn2r82 A T 10: 79,232,339 (GRCm39) R779S probably benign Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A 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
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
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'- CGCAGTTATTGCCCAGTCACTGTTTAC -3'
(R):5'- CCTAAGAAAGATCCAGAAGTGCTGACC -3'

Sequencing Primer
(F):5'- tctttctccgtctttctctacc -3'
(R):5'- CTGACCAAGAAAAAGTCTGGC -3'
Protein Function and Prediction

Androglobin (ADGB) has an N-terminal calpain-like protease domain (amino acids 56-657, SMART; amino acids 70-402, UniProt), a globin domain with a calmodulin-binding IQ motif (amino acids 906-928, SMART), a C-terminal coiled-coil region (amino acids (1537-1567, SMART), and putative overlapping nuclear localization and endoplasmic reticulum membrane retention signals at its C-terminus (1). The calpain domain is predicted to be nonfunctional (1). The globin domain exhibits an absorption spectrum characteristic of hexacoordination of the heme iron atom (1).The ADGB globin domain is split into two parts that are divided by the IQ motif (1). The globin domain exhibits a relatively uncommon, but naturally occurring circular permutation of α-helices (1). Initial tandem duplication of the globin domain, followed by trimming of redundant duplicate regions from the N- and C-termini are predicted to lead to the circular permutation; protein function is not changed (2). Hoogewijs et al. propose several putative functions of the ADGB globin domain including a function in redox-regulated signaling or as a mediator of O2 level-dependent protein activity (1). The coiled-coil motif is predicted to function in protein dimerization (1).

Expression/Localization

Adgb expression was high in mouse and human testis, with lower expression in the lung, heart, and brain (1). Little to no expression was detected in other tissues examined (1). Adgb expression in the testis is associated with postmeiotic stages of spermatogenesis (approximately postnatal day (P) 25 through adulthood) (1). Adgb expression in testis-derived cell lines corresponding to Leydig cells, Sertoli cells, spermatogonia, and spermatogyctes was very low (1). Within the testis, Adgb is expressed in the lumen of the seminiferous tubes (1). Expression of Adgb is higher in fertile males compared to infertile males (1).

Background

Globin proteins are respiratory proteins that have diverse functions including oxygen sensing, storage, sulfide and oxygen transport, peroxidase activity, reaction with nitric oxide and free radicals, and detoxification (3). ADGB is proposed to function in late phases of spermatogenesis (1). The members of the globin superfamily function in several types of cancers (4-6). ADGB has an oncogene role in glioma (7). Knockdown of ADGB expression resulted in inhibition of glioma cell line proliferation as well as increased apoptosis (7). ADGB knockdown also altered the phosphorylation levels of STAT3, Akt, and ERK1/2 as well as the levels of cleaved caspase-3 and decreased levels of cyclin D1 and Bcl-2 (7). The function of ADGB is unknown.

References
Posted On 2013-04-11
Science Writer Anne Murray