Incidental Mutation 'R1980:Adgb'
ID |
222162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgb
|
Ensembl Gene |
ENSMUSG00000050994 |
Gene Name |
androglobin |
Synonyms |
9130014G24Rik |
MMRRC Submission |
039992-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
10211447-10348070 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 10309242 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 246
(V246I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146658
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045328]
[ENSMUST00000132573]
[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: ENSMUST00000132573
AA Change: V252I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120422 Gene: ENSMUSG00000050994 AA Change: V252I
Domain | Start | End | E-Value | Type |
CysPc
|
56 |
655 |
2.7e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172530
AA Change: V252I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134378 Gene: ENSMUSG00000050994 AA Change: V252I
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 benign
Transcript: ENSMUST00000179956
AA Change: V252I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136386 Gene: ENSMUSG00000050994 AA Change: V252I
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 benign
Transcript: ENSMUST00000208717
AA Change: V246I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
C |
11: 100,386,702 (GRCm39) |
I620S |
possibly damaging |
Het |
Acot8 |
A |
G |
2: 164,636,964 (GRCm39) |
F262S |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,022,771 (GRCm39) |
M1200K |
probably damaging |
Het |
Alg11 |
T |
A |
8: 22,551,903 (GRCm39) |
F16I |
possibly damaging |
Het |
Apol7c |
A |
G |
15: 77,410,244 (GRCm39) |
V234A |
probably benign |
Het |
Arhgap19 |
T |
G |
19: 41,776,784 (GRCm39) |
I122L |
possibly damaging |
Het |
Arhgef37 |
A |
G |
18: 61,641,767 (GRCm39) |
S201P |
probably damaging |
Het |
Asgr1 |
A |
T |
11: 69,945,772 (GRCm39) |
D16V |
probably damaging |
Het |
Camta2 |
A |
T |
11: 70,573,308 (GRCm39) |
C227S |
probably benign |
Het |
Cd22 |
A |
T |
7: 30,572,658 (GRCm39) |
L317Q |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,386,112 (GRCm39) |
I2056K |
probably benign |
Het |
Cenpi |
T |
A |
X: 133,218,782 (GRCm39) |
F161L |
possibly damaging |
Het |
Ciapin1 |
C |
T |
8: 95,559,161 (GRCm39) |
V43I |
probably benign |
Het |
Cox5b-ps |
T |
G |
13: 21,685,294 (GRCm39) |
T99P |
possibly damaging |
Het |
Dach1 |
A |
G |
14: 98,068,777 (GRCm39) |
L601P |
probably damaging |
Het |
Ddx11 |
T |
A |
17: 66,455,734 (GRCm39) |
L711Q |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,471,707 (GRCm39) |
N653I |
probably damaging |
Het |
Fezf2 |
G |
T |
14: 12,344,405 (GRCm38) |
P261T |
probably benign |
Het |
Galnt5 |
T |
C |
2: 57,914,735 (GRCm39) |
|
probably null |
Het |
Gemin5 |
A |
G |
11: 58,027,743 (GRCm39) |
L935P |
probably damaging |
Het |
Gm9507 |
A |
T |
10: 77,647,519 (GRCm39) |
C53* |
probably null |
Het |
Irgm2 |
A |
G |
11: 58,110,902 (GRCm39) |
I198V |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klf12 |
A |
C |
14: 100,387,162 (GRCm39) |
|
probably null |
Het |
Lpp |
C |
T |
16: 24,480,451 (GRCm39) |
P73L |
probably damaging |
Het |
Lrrc34 |
G |
A |
3: 30,696,890 (GRCm39) |
H127Y |
probably benign |
Het |
Lyar |
T |
C |
5: 38,382,053 (GRCm39) |
S12P |
probably damaging |
Het |
Maml3 |
A |
G |
3: 52,011,473 (GRCm39) |
I31T |
unknown |
Het |
Mei1 |
A |
G |
15: 81,987,513 (GRCm39) |
N859S |
probably benign |
Het |
Minar2 |
T |
A |
18: 59,208,739 (GRCm39) |
M129K |
probably damaging |
Het |
Mysm1 |
A |
T |
4: 94,840,450 (GRCm39) |
N655K |
probably benign |
Het |
Npnt |
T |
C |
3: 132,653,893 (GRCm39) |
I29M |
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,395,746 (GRCm39) |
W137R |
probably benign |
Het |
Numb |
C |
T |
12: 83,844,118 (GRCm39) |
|
probably null |
Het |
Obsl1 |
A |
G |
1: 75,482,480 (GRCm39) |
F130S |
probably damaging |
Het |
Or2h1 |
T |
G |
17: 37,404,295 (GRCm39) |
Q157P |
probably damaging |
Het |
Or4k47 |
T |
A |
2: 111,451,586 (GRCm39) |
I278F |
probably benign |
Het |
Pbx4 |
T |
C |
8: 70,322,776 (GRCm39) |
V294A |
probably benign |
Het |
Pde4dip |
A |
C |
3: 97,664,312 (GRCm39) |
L524R |
possibly damaging |
Het |
Plppr1 |
G |
A |
4: 49,337,655 (GRCm39) |
A319T |
probably benign |
Het |
Ppid |
A |
T |
3: 79,500,925 (GRCm39) |
I32F |
probably damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,975,051 (GRCm39) |
V382E |
probably damaging |
Het |
Prkcsh |
A |
G |
9: 21,924,164 (GRCm39) |
D458G |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,991,261 (GRCm39) |
E291G |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,782,615 (GRCm39) |
K923N |
possibly damaging |
Het |
Rab25 |
T |
C |
3: 88,450,765 (GRCm39) |
T45A |
probably damaging |
Het |
Rapgef1 |
C |
T |
2: 29,612,239 (GRCm39) |
P630S |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,452,821 (GRCm39) |
D355G |
probably damaging |
Het |
Rel |
C |
T |
11: 23,692,761 (GRCm39) |
G424D |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,658,634 (GRCm39) |
E929D |
probably benign |
Het |
Samt3 |
A |
C |
X: 85,090,740 (GRCm39) |
M211L |
probably benign |
Het |
Slk |
T |
G |
19: 47,600,428 (GRCm39) |
I151S |
probably damaging |
Het |
Spin1 |
T |
A |
13: 51,298,506 (GRCm39) |
V175D |
probably damaging |
Het |
Ssxb10 |
A |
G |
X: 8,197,258 (GRCm39) |
D77G |
probably benign |
Het |
Ticam1 |
C |
T |
17: 56,578,555 (GRCm39) |
R180H |
probably damaging |
Het |
Tmem151b |
G |
C |
17: 45,856,387 (GRCm39) |
P351R |
possibly damaging |
Het |
Tmod1 |
A |
C |
4: 46,061,043 (GRCm39) |
Y10S |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm1 |
T |
C |
7: 63,858,182 (GRCm39) |
Y225H |
possibly damaging |
Het |
Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
Tyro3 |
A |
G |
2: 119,639,298 (GRCm39) |
D335G |
probably benign |
Het |
Unc79 |
C |
A |
12: 102,977,538 (GRCm39) |
Y180* |
probably null |
Het |
Upp1 |
A |
T |
11: 9,084,872 (GRCm39) |
D197V |
possibly damaging |
Het |
Vmn1r226 |
T |
A |
17: 20,908,308 (GRCm39) |
M180K |
possibly damaging |
Het |
Vtn |
T |
A |
11: 78,392,724 (GRCm39) |
I434N |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,545,395 (GRCm39) |
N43I |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,885 (GRCm39) |
T47A |
probably benign |
Het |
Zyg11b |
G |
A |
4: 108,123,127 (GRCm39) |
T280I |
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 |
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 |
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'- CCTGGAACCCACATATTGTCC -3'
(R):5'- TGTGACCTACTTGTCCAAAGAAAAC -3'
Sequencing Primer
(F):5'- GGAACCCACATATTGTCCTCTGAC -3'
(R):5'- GAGTGCTCCCTACTCATT -3'
|
Posted On |
2014-08-25 |