Incidental Mutation 'R5891:Adgb'
ID 457195
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 044092-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5891 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 10253591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 1224 (Q1224*)
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 null
Transcript: ENSMUST00000172530
AA Change: Q1248*
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: Q1248*

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 null
Transcript: ENSMUST00000179956
AA Change: Q1250*
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: Q1250*

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 null
Transcript: ENSMUST00000208717
AA Change: Q1224*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.9%
Validation Efficiency 96% (85/89)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A T 16: 56,426,496 (GRCm39) T504S probably damaging Het
Adamtsl4 C A 3: 95,589,623 (GRCm39) R387L possibly damaging Het
Ankrd40 T A 11: 94,225,689 (GRCm39) F240Y probably damaging Het
Asnsd1 A T 1: 53,387,136 (GRCm39) Y164N probably benign Het
Atf7ip A T 6: 136,536,975 (GRCm39) E69D possibly damaging Het
Atm T C 9: 53,408,459 (GRCm39) T1129A probably benign Het
Atosa C G 9: 74,911,668 (GRCm39) C46W probably damaging Het
AU021092 T C 16: 5,029,995 (GRCm39) D340G probably benign Het
Baz2a T A 10: 127,957,191 (GRCm39) I978N probably damaging Het
BC034090 T C 1: 155,108,793 (GRCm39) probably benign Het
Bcl9 A G 3: 97,116,204 (GRCm39) L830P probably damaging Het
Bicral T C 17: 47,112,155 (GRCm39) N1015S probably benign Het
Ccdc9b T A 2: 118,591,864 (GRCm39) D92V probably damaging Het
Ceacam3 C A 7: 16,885,718 (GRCm39) T107N probably damaging Het
Cep83 T C 10: 94,561,537 (GRCm39) V109A probably benign Het
Ces1e A G 8: 93,929,894 (GRCm39) V463A possibly damaging Het
Ciao1 A G 2: 127,089,054 (GRCm39) V55A probably benign Het
Col19a1 T C 1: 24,328,806 (GRCm39) E900G probably damaging Het
Commd3 A G 2: 18,678,626 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,872 (GRCm39) I157T probably damaging Het
Cplane1 A G 15: 8,218,073 (GRCm39) I828V probably benign Het
Ctso T A 3: 81,861,561 (GRCm39) F311L probably benign Het
Cxcl10 A G 5: 92,496,083 (GRCm39) probably benign Het
Daam1 C A 12: 71,990,923 (GRCm39) T179N unknown Het
Ddx24 T C 12: 103,390,317 (GRCm39) K225E probably damaging Het
Dnajc16 T C 4: 141,502,703 (GRCm39) T278A probably benign Het
Dnajc2 A T 5: 21,966,709 (GRCm39) N345K possibly damaging Het
Dnpep G T 1: 75,288,456 (GRCm39) Q395K probably benign Het
Dync1h1 T C 12: 110,580,654 (GRCm39) probably null Het
Exoc1 A G 5: 76,689,991 (GRCm39) D177G probably damaging Het
Fam135b C T 15: 71,397,652 (GRCm39) R136H probably damaging Het
Filip1 T G 9: 79,727,142 (GRCm39) L492F possibly damaging Het
Flvcr2 A T 12: 85,843,002 (GRCm39) I359F possibly damaging Het
Gmcl1 A G 6: 86,684,425 (GRCm39) W366R probably damaging Het
Htt A G 5: 35,028,167 (GRCm39) T1808A possibly damaging Het
Ighv5-4 C A 12: 113,561,249 (GRCm39) R57L probably damaging Het
Il12rb2 A T 6: 67,337,674 (GRCm39) I69N probably damaging Het
Irf5 A T 6: 29,529,424 (GRCm39) probably benign Het
Kif13b T G 14: 65,025,854 (GRCm39) probably null Het
Klkb1 T A 8: 45,723,703 (GRCm39) T571S probably benign Het
Mapkbp1 G T 2: 119,854,413 (GRCm39) E1337* probably null Het
Met A G 6: 17,491,538 (GRCm39) D100G probably benign Het
Mgam T A 6: 40,721,282 (GRCm39) D183E probably benign Het
Mrgprb13 T C 7: 47,962,007 (GRCm39) noncoding transcript Het
Mrgprx2 T C 7: 48,131,994 (GRCm39) T275A probably benign Het
Mroh2a C A 1: 88,169,337 (GRCm39) Q671K possibly damaging Het
Nckipsd T A 9: 108,685,808 (GRCm39) S42R probably damaging Het
Nlrp12 T A 7: 3,267,933 (GRCm39) probably benign Het
Or12j2 C T 7: 139,916,513 (GRCm39) T246I probably benign Het
Or12k8 T A 2: 36,974,990 (GRCm39) M257L probably benign Het
Or4k47 A T 2: 111,451,778 (GRCm39) L214M probably damaging Het
Or5p5 C T 7: 107,414,387 (GRCm39) P199S probably damaging Het
Otoa T A 7: 120,731,583 (GRCm39) probably null Het
Pfkm T A 15: 98,020,571 (GRCm39) C233* probably null Het
Pikfyve A G 1: 65,241,896 (GRCm39) Y212C probably damaging Het
Ptprq T A 10: 107,412,756 (GRCm39) D1781V possibly damaging Het
Pttg1ip A G 10: 77,418,274 (GRCm39) probably benign Het
Rab6a T A 7: 100,288,454 (GRCm39) probably null Het
Rbm11 C T 16: 75,395,725 (GRCm39) A132V possibly damaging Het
Septin4 G T 11: 87,479,750 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,575 (GRCm39) E210G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slco5a1 A G 1: 13,060,626 (GRCm39) F32L probably benign Het
Smad2 A G 18: 76,433,046 (GRCm39) E326G probably damaging Het
Sp9 T A 2: 73,104,595 (GRCm39) L383Q probably damaging Het
Stx11 T C 10: 12,817,559 (GRCm39) N55S probably damaging Het
Tbc1d15 T A 10: 115,056,213 (GRCm39) Q253L probably benign Het
Tcf7l1 T A 6: 72,614,034 (GRCm39) probably benign Het
Tdrd9 T A 12: 112,009,153 (GRCm39) S1020T probably damaging Het
Tead3 A T 17: 28,560,339 (GRCm39) D88E probably damaging Het
Tnrc18 A G 5: 142,800,926 (GRCm39) S11P probably damaging Homo
Trpc3 G T 3: 36,725,171 (GRCm39) D268E probably damaging Het
Ttn A G 2: 76,576,085 (GRCm39) V23190A possibly damaging Het
Ubr4 T A 4: 139,135,937 (GRCm39) Y908* probably null Het
Urb2 G T 8: 124,757,595 (GRCm39) V1101L possibly damaging Het
Usp9y A T Y: 1,341,535 (GRCm39) D1375E probably benign Het
Zcchc7 T C 4: 44,895,838 (GRCm39) L262P probably damaging Het
Zdhhc7 T A 8: 120,811,639 (GRCm39) H188L probably benign Het
Zfp518a T A 19: 40,900,877 (GRCm39) C269S probably damaging Het
Zfp933 T C 4: 147,911,231 (GRCm39) K90E 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
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
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'- GCACATGTGAATACAGGGCAC -3'
(R):5'- GCAAGCAAGTTCTCTTATCTCACC -3'

Sequencing Primer
(F):5'- CCAGAGTCAGCTTGGAGTTTC -3'
(R):5'- TTATCTCACCCCTCACCTAAGAAAG -3'
Posted On 2017-02-15