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)
|
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
Domain | Start | End | E-Value | Type |
Blast:CysPc
|
11 |
257 |
1e-165 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148816
|
SMART Domains |
Protein: ENSMUSP00000133652 Gene: ENSMUSG00000050994
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |