Incidental Mutation 'R4624:Adgb'
ID 346423
Institutional Source Beutler Lab
Gene Symbol Adgb
Ensembl Gene ENSMUSG00000050994
Gene Name androglobin
Synonyms 9130014G24Rik
MMRRC Submission 041889-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4624 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 10211447-10348070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 10278748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 267 (V267L)
Ref Sequence ENSEMBL: ENSMUSP00000045452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045328] [ENSMUST00000132573] [ENSMUST00000148816] [ENSMUST00000172530] [ENSMUST00000179956] [ENSMUST00000208717]
AlphaFold G3UZ78
Predicted Effect probably benign
Transcript: ENSMUST00000045328
AA Change: V267L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045452
Gene: ENSMUSG00000050994
AA Change: V267L

DomainStartEndE-ValueType
Blast:CysPc 11 257 1e-165 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000132573
AA Change: V665L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120422
Gene: ENSMUSG00000050994
AA Change: V665L

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 benign
Transcript: ENSMUST00000172530
AA Change: V665L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134378
Gene: ENSMUSG00000050994
AA Change: V665L

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
AA Change: V667L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136386
Gene: ENSMUSG00000050994
AA Change: V667L

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
AA Change: V641L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 93% (85/91)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,873 (GRCm39) T134A possibly damaging Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd52 A G 10: 128,225,128 (GRCm39) H863R probably damaging Het
Ap3b1 A G 13: 94,619,734 (GRCm39) R766G unknown Het
Apol7c A G 15: 77,410,595 (GRCm39) F117S probably damaging Het
Bcr A T 10: 74,989,752 (GRCm39) E716V probably damaging Het
Borcs6 T C 11: 68,951,423 (GRCm39) L267P probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Ccdc50 A G 16: 27,255,351 (GRCm39) K223R probably null Het
Cd2 T G 3: 101,194,747 (GRCm39) K114Q probably benign Het
Cdh19 T C 1: 110,859,981 (GRCm39) K167E probably benign Het
Cep131 T C 11: 119,961,658 (GRCm39) E558G probably damaging Het
Cmya5 A T 13: 93,200,059 (GRCm39) V3423E probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cntn5 A T 9: 9,704,809 (GRCm39) C663* probably null Het
Dnaaf4 A G 9: 72,871,453 (GRCm39) I238V probably benign Het
Dnah12 T C 14: 26,456,913 (GRCm39) I893T possibly damaging Het
Dop1a G A 9: 86,403,578 (GRCm39) V129M probably damaging Het
Exoc6b A G 6: 84,831,791 (GRCm39) probably benign Het
Ext2 A G 2: 93,533,545 (GRCm39) V671A probably benign Het
Fcamr T G 1: 130,730,999 (GRCm39) L28R probably damaging Het
Fer1l6 T C 15: 58,425,554 (GRCm39) I144T probably damaging Het
Frem1 A G 4: 82,907,343 (GRCm39) L839P probably damaging Het
Fscn2 A T 11: 120,258,169 (GRCm39) I364F probably benign Het
Gm10291 T C 3: 78,824,581 (GRCm39) noncoding transcript Het
Gm29125 T C 1: 80,362,676 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,710,823 (GRCm39) M908V probably damaging Het
Helz2 T C 2: 180,881,101 (GRCm39) E436G probably damaging Het
Hfe A T 13: 23,890,061 (GRCm39) C149* probably null Het
Hs1bp3 T C 12: 8,386,357 (GRCm39) V253A probably benign Het
Kat14 A G 2: 144,246,140 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnh3 T A 15: 99,124,253 (GRCm39) D47E probably damaging Het
Kcp A G 6: 29,482,813 (GRCm39) F1419L possibly damaging Het
Kera A G 10: 97,445,493 (GRCm39) N284S probably benign Het
Klhl24 A G 16: 19,938,873 (GRCm39) D476G probably damaging Het
Krt79 T A 15: 101,848,241 (GRCm39) T137S possibly damaging Het
Lilrb4a A G 10: 51,367,584 (GRCm39) Y42C probably damaging Het
Lnx1 C T 5: 74,821,121 (GRCm39) probably benign Het
Map3k14 A G 11: 103,121,927 (GRCm39) Y497H probably damaging Het
Mmut G A 17: 41,257,946 (GRCm39) E371K probably damaging Het
Nkx2-6 A G 14: 69,412,375 (GRCm39) Q181R probably damaging Het
Notch1 T C 2: 26,368,093 (GRCm39) K631R possibly damaging Het
Or5an10 C T 19: 12,276,347 (GRCm39) V50I probably benign Het
Pcdh9 T A 14: 94,123,845 (GRCm39) N775I probably damaging Het
Phkb T A 8: 86,575,341 (GRCm39) probably benign Het
Pick1 T A 15: 79,130,666 (GRCm39) I250N probably damaging Het
Plec T C 15: 76,059,335 (GRCm39) E3556G probably damaging Het
Prex2 C T 1: 11,359,489 (GRCm39) Q1566* probably null Het
Ptgr2 T G 12: 84,355,128 (GRCm39) F287L possibly damaging Het
Ptprv T C 1: 135,051,869 (GRCm39) noncoding transcript Het
Rab5b G T 10: 128,519,130 (GRCm39) H83Q probably benign Het
Ranbp6 A T 19: 29,788,263 (GRCm39) Y696* probably null Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Rsrc1 T C 3: 67,257,311 (GRCm39) V241A probably damaging Het
Ryr2 A T 13: 12,121,301 (GRCm39) I11N possibly damaging Het
S100a11 T C 3: 93,433,321 (GRCm39) L55P probably damaging Het
Sec13 A G 6: 113,706,652 (GRCm39) S254P probably benign Het
Slc25a36 G A 9: 96,961,178 (GRCm39) T147I probably damaging Het
Spata31d1c A G 13: 65,184,411 (GRCm39) E651G probably benign Het
Stox2 C A 8: 47,646,851 (GRCm39) R203L probably damaging Het
Tbc1d30 A T 10: 121,132,691 (GRCm39) D224E probably damaging Het
Tdrd6 A G 17: 43,936,881 (GRCm39) L1389P probably damaging Het
Tmprss11b T C 5: 86,812,895 (GRCm39) S134G probably benign Het
Tmtc2 A T 10: 105,139,511 (GRCm39) S672T probably benign Het
Tnnt1 G A 7: 4,515,267 (GRCm39) probably benign Het
Tpst2 A G 5: 112,456,162 (GRCm39) M234V probably damaging Het
Ttbk2 T C 2: 120,603,804 (GRCm39) D208G probably benign Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Unc45b T A 11: 82,816,835 (GRCm39) M425K probably benign Het
Uvssa G A 5: 33,547,300 (GRCm39) E289K possibly damaging Het
Vmn2r11 T A 5: 109,200,101 (GRCm39) R451W probably damaging Het
Vmn2r45 T C 7: 8,484,341 (GRCm39) Y488C probably damaging Het
Vmn2r55 T A 7: 12,404,627 (GRCm39) I259F possibly damaging Het
Wdfy3 C T 5: 102,031,949 (GRCm39) R2277Q possibly damaging Het
Wdr64 T G 1: 175,599,829 (GRCm39) M111R 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
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'- AGTTAGCACAGTCCCCAGTG -3'
(R):5'- AGTCTGGGTCTCCTTACCTG -3'

Sequencing Primer
(F):5'- TCCCCAGTGTGAGAGAAGC -3'
(R):5'- GGGTCTCCTTACCTGTCTGG -3'
Posted On 2015-09-25