Incidental Mutation 'R1648:Adgb'
ID 174038
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10271115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 817 (F817L)
Ref Sequence ENSEMBL: ENSMUSP00000146658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045328] [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: ENSMUST00000148816
SMART Domains Protein: ENSMUSP00000133652
Gene: ENSMUSG00000050994

DomainStartEndE-ValueType
Blast:CysPc 1 41 1e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172530
AA Change: F841L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: F841L

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: F843L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: F843L

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: F817L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.1549 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Slc39a12 T C 2: 14,456,803 (GRCm39) V597A probably benign Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R 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
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
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'- CTCTGCTACACAAGAGCTGAGCAC -3'
(R):5'- TCAACATGGAAGAGCACCTTGCC -3'

Sequencing Primer
(F):5'- GCTGAGCACAGCCATTTTAAATTAC -3'
(R):5'- TTGGCAATGACAAATGTCCAC -3'
Posted On 2014-04-24