Incidental Mutation 'R7000:AW551984'
| ID |
544483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
045105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7000 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39512085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 12
(R12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042485
AA Change: R12G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: R12G
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119722
AA Change: R12G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: R12G
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130829
AA Change: R12G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112
AA Change: R12G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141370
AA Change: R12G
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: R12G
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,752,823 (GRCm39) |
A525T |
probably benign |
Het |
| Abcc6 |
A |
G |
7: 45,654,946 (GRCm39) |
I515T |
possibly damaging |
Het |
| Abi1 |
G |
A |
2: 22,832,053 (GRCm39) |
A420V |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,542,787 (GRCm39) |
I887F |
possibly damaging |
Het |
| Acap3 |
G |
A |
4: 155,988,306 (GRCm39) |
G602S |
possibly damaging |
Het |
| Auts2 |
T |
A |
5: 131,469,056 (GRCm39) |
T754S |
probably benign |
Het |
| Bcan |
G |
A |
3: 87,895,686 (GRCm39) |
R817* |
probably null |
Het |
| Bmp10 |
A |
G |
6: 87,411,175 (GRCm39) |
T323A |
probably benign |
Het |
| Bpnt1 |
T |
C |
1: 185,082,053 (GRCm39) |
L165P |
probably damaging |
Het |
| Casz1 |
G |
A |
4: 149,013,693 (GRCm39) |
A86T |
probably damaging |
Het |
| Ccn3 |
A |
T |
15: 54,615,743 (GRCm39) |
T303S |
probably damaging |
Het |
| Cd1d2 |
T |
C |
3: 86,895,080 (GRCm39) |
F189L |
probably benign |
Het |
| Cep72 |
A |
G |
13: 74,206,444 (GRCm39) |
M126T |
probably damaging |
Het |
| Cep85l |
T |
A |
10: 53,174,295 (GRCm39) |
T483S |
probably damaging |
Het |
| Cfi |
C |
A |
3: 129,666,522 (GRCm39) |
T415K |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,755,787 (GRCm39) |
L253S |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,475,051 (GRCm39) |
H596R |
unknown |
Het |
| Cplx3 |
G |
C |
9: 57,523,231 (GRCm39) |
Q109E |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,335,588 (GRCm39) |
M402K |
probably benign |
Het |
| Cyp3a16 |
T |
A |
5: 145,399,980 (GRCm39) |
|
probably null |
Het |
| Dhdh |
T |
C |
7: 45,124,698 (GRCm39) |
K332E |
possibly damaging |
Het |
| Dnah11 |
C |
A |
12: 117,981,396 (GRCm39) |
C2590F |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,916,528 (GRCm39) |
|
probably null |
Het |
| Dtx1 |
A |
G |
5: 120,833,148 (GRCm39) |
Y97H |
probably damaging |
Het |
| Duxf1 |
T |
C |
10: 58,058,814 (GRCm39) |
T647A |
possibly damaging |
Het |
| Elf1 |
A |
G |
14: 79,808,208 (GRCm39) |
D183G |
probably damaging |
Het |
| Esyt3 |
A |
C |
9: 99,204,206 (GRCm39) |
L94R |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,330,285 (GRCm39) |
Y521H |
probably benign |
Het |
| F5 |
C |
T |
1: 164,007,075 (GRCm39) |
T293M |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,146,560 (GRCm39) |
H102Q |
probably damaging |
Het |
| Flad1 |
T |
C |
3: 89,309,549 (GRCm39) |
|
probably benign |
Het |
| Flrt3 |
G |
A |
2: 140,502,804 (GRCm39) |
R275* |
probably null |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Fscn1 |
T |
A |
5: 142,946,382 (GRCm39) |
V60E |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,811,418 (GRCm39) |
M1K |
probably null |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,143 (GRCm39) |
S694G |
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,254 (GRCm39) |
|
probably null |
Het |
| Iqch |
T |
C |
9: 63,361,892 (GRCm39) |
T874A |
probably benign |
Het |
| Lamc2 |
T |
A |
1: 153,041,873 (GRCm39) |
H87L |
possibly damaging |
Het |
| Ldlrad1 |
T |
A |
4: 107,066,777 (GRCm39) |
D37E |
probably benign |
Het |
| Loxhd1 |
T |
C |
18: 77,460,129 (GRCm39) |
|
probably null |
Het |
| Lxn |
T |
G |
3: 67,369,704 (GRCm39) |
E60D |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,979,213 (GRCm39) |
W276R |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,655,598 (GRCm39) |
Y182C |
probably damaging |
Het |
| Mroh8 |
C |
T |
2: 157,058,897 (GRCm39) |
R923Q |
probably benign |
Het |
| Obscn |
A |
G |
11: 59,026,864 (GRCm39) |
L113P |
probably damaging |
Het |
| Ocln |
C |
T |
13: 100,671,470 (GRCm39) |
|
probably null |
Het |
| Oog2 |
A |
T |
4: 143,921,897 (GRCm39) |
Q269L |
probably damaging |
Het |
| Or52e8 |
G |
A |
7: 104,624,338 (GRCm39) |
P285S |
probably damaging |
Het |
| Or5b113 |
A |
G |
19: 13,341,987 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,274,137 (GRCm39) |
S826P |
probably damaging |
Het |
| Otogl |
T |
C |
10: 107,615,692 (GRCm39) |
N1869S |
probably benign |
Het |
| Pamr1 |
G |
A |
2: 102,441,968 (GRCm39) |
D186N |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,859,946 (GRCm39) |
I334K |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,319,038 (GRCm39) |
S95P |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,242,128 (GRCm39) |
V994E |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,817,692 (GRCm39) |
M148V |
probably benign |
Het |
| Plbd1 |
T |
G |
6: 136,589,836 (GRCm39) |
K461Q |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,257,221 (GRCm39) |
E594G |
possibly damaging |
Het |
| Pold3 |
A |
T |
7: 99,755,865 (GRCm39) |
H60Q |
probably damaging |
Het |
| Polr3gl |
C |
T |
3: 96,487,783 (GRCm39) |
R52Q |
possibly damaging |
Het |
| Ptgds |
A |
G |
2: 25,357,828 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
T |
C |
5: 92,601,934 (GRCm39) |
D320G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,693,995 (GRCm39) |
Y1812C |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,794,222 (GRCm39) |
T204N |
probably benign |
Het |
| Slc23a2 |
T |
C |
2: 131,936,123 (GRCm39) |
Q49R |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,552,476 (GRCm39) |
Q227R |
probably benign |
Het |
| Sntn |
C |
T |
14: 13,679,108 (GRCm38) |
T94I |
probably damaging |
Het |
| Spem2 |
C |
T |
11: 69,708,582 (GRCm39) |
G128S |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,408,907 (GRCm39) |
S822R |
probably damaging |
Het |
| Syn3 |
T |
C |
10: 85,916,116 (GRCm39) |
Y290C |
probably damaging |
Het |
| Tdrd6 |
C |
G |
17: 43,938,599 (GRCm39) |
E816D |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,556,302 (GRCm39) |
M72K |
probably damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,987 (GRCm39) |
V148A |
probably damaging |
Het |
| Trim24 |
C |
A |
6: 37,935,613 (GRCm39) |
T832K |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,141,715 (GRCm39) |
A1267V |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,492 (GRCm39) |
M145K |
probably damaging |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,762 (GRCm39) |
M270K |
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,819 (GRCm39) |
C553S |
probably damaging |
Het |
| Vps37c |
G |
T |
19: 10,687,693 (GRCm39) |
E51D |
probably damaging |
Het |
| Zfp62 |
T |
G |
11: 49,107,206 (GRCm39) |
Y432* |
probably null |
Het |
|
| Other mutations in AW551984 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:AW551984
|
APN |
9 |
39,504,145 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL00869:AW551984
|
APN |
9 |
39,504,730 (GRCm39) |
splice site |
probably benign |
|
|
IGL01411:AW551984
|
APN |
9 |
39,505,087 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01744:AW551984
|
APN |
9 |
39,502,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02102:AW551984
|
APN |
9 |
39,500,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:AW551984
|
APN |
9 |
39,504,220 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02151:AW551984
|
APN |
9 |
39,504,241 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02154:AW551984
|
APN |
9 |
39,500,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02158:AW551984
|
APN |
9 |
39,510,621 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL02574:AW551984
|
APN |
9 |
39,500,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02754:AW551984
|
APN |
9 |
39,504,624 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02754:AW551984
|
APN |
9 |
39,507,922 (GRCm39) |
nonsense |
probably null |
|
|
IGL02838:AW551984
|
APN |
9 |
39,505,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03240:AW551984
|
APN |
9 |
39,500,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03328:AW551984
|
APN |
9 |
39,508,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:AW551984
|
APN |
9 |
39,511,062 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
PIT4260001:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0141:AW551984
|
UTSW |
9 |
39,501,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:AW551984
|
UTSW |
9 |
39,511,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:AW551984
|
UTSW |
9 |
39,510,617 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0453:AW551984
|
UTSW |
9 |
39,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:AW551984
|
UTSW |
9 |
39,511,912 (GRCm39) |
missense |
probably null |
1.00 |
|
R1005:AW551984
|
UTSW |
9 |
39,505,029 (GRCm39) |
nonsense |
probably null |
|
|
R1585:AW551984
|
UTSW |
9 |
39,510,632 (GRCm39) |
nonsense |
probably null |
|
|
R2177:AW551984
|
UTSW |
9 |
39,511,111 (GRCm39) |
missense |
probably benign |
|
|
R3117:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3119:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R3837:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R3839:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4422:AW551984
|
UTSW |
9 |
39,511,373 (GRCm39) |
missense |
probably null |
0.00 |
|
R4713:AW551984
|
UTSW |
9 |
39,508,449 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4905:AW551984
|
UTSW |
9 |
39,508,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4966:AW551984
|
UTSW |
9 |
39,508,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5022:AW551984
|
UTSW |
9 |
39,509,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5041:AW551984
|
UTSW |
9 |
39,511,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:AW551984
|
UTSW |
9 |
39,505,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5383:AW551984
|
UTSW |
9 |
39,501,994 (GRCm39) |
missense |
probably benign |
|
|
R5443:AW551984
|
UTSW |
9 |
39,509,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5532:AW551984
|
UTSW |
9 |
39,508,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:AW551984
|
UTSW |
9 |
39,504,169 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5586:AW551984
|
UTSW |
9 |
39,502,559 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5601:AW551984
|
UTSW |
9 |
39,502,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5618:AW551984
|
UTSW |
9 |
39,502,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:AW551984
|
UTSW |
9 |
39,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6122:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6142:AW551984
|
UTSW |
9 |
39,508,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6272:AW551984
|
UTSW |
9 |
39,509,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6429:AW551984
|
UTSW |
9 |
39,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6659:AW551984
|
UTSW |
9 |
39,500,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6670:AW551984
|
UTSW |
9 |
39,504,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:AW551984
|
UTSW |
9 |
39,511,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:AW551984
|
UTSW |
9 |
39,502,723 (GRCm39) |
missense |
probably benign |
|
|
R7083:AW551984
|
UTSW |
9 |
39,508,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7352:AW551984
|
UTSW |
9 |
39,504,221 (GRCm39) |
missense |
probably benign |
|
|
R7475:AW551984
|
UTSW |
9 |
39,509,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7534:AW551984
|
UTSW |
9 |
39,502,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7542:AW551984
|
UTSW |
9 |
39,505,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7708:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7729:AW551984
|
UTSW |
9 |
39,511,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7955:AW551984
|
UTSW |
9 |
39,507,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:AW551984
|
UTSW |
9 |
39,510,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:AW551984
|
UTSW |
9 |
39,510,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8402:AW551984
|
UTSW |
9 |
39,508,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8683:AW551984
|
UTSW |
9 |
39,511,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8810:AW551984
|
UTSW |
9 |
39,511,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:AW551984
|
UTSW |
9 |
39,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:AW551984
|
UTSW |
9 |
39,500,998 (GRCm39) |
nonsense |
probably null |
|
|
R9019:AW551984
|
UTSW |
9 |
39,508,973 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:AW551984
|
UTSW |
9 |
39,501,899 (GRCm39) |
nonsense |
probably null |
|
|
ZE80:AW551984
|
UTSW |
9 |
39,504,963 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGGTTGCAGACACACCAG -3'
(R):5'- GTGGACACCTCAGGACTCATATC -3'
Sequencing Primer
(F):5'- GCCACAAAATCATTGATGGACAG -3'
(R):5'- AGGACTCATATCTTCCCACCTAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation