Incidental Mutation 'R8683:AW551984'
| ID |
661886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| MMRRC Submission |
068538-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8683 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39511005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 194
(T194I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042485
AA Change: T194I
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: T194I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119722
AA Change: T194I
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: T194I
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000141370
AA Change: T194I
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: T194I
| Domain | Start | End | E-Value | Type |
|---|
|
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,065 (GRCm39) |
D129E |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,491,929 (GRCm39) |
E877D |
possibly damaging |
Het |
| Adarb2 |
T |
A |
13: 8,807,395 (GRCm39) |
V732E |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,276 (GRCm39) |
H477Y |
probably damaging |
Het |
| Ahctf1 |
T |
C |
1: 179,623,321 (GRCm39) |
E99G |
possibly damaging |
Het |
| Ankk1 |
T |
A |
9: 49,329,292 (GRCm39) |
M93L |
|
Het |
| Ankmy1 |
A |
T |
1: 92,812,972 (GRCm39) |
L446M |
possibly damaging |
Het |
| Anxa10 |
T |
A |
8: 62,510,825 (GRCm39) |
Y309F |
probably damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Atp6v0a4 |
T |
A |
6: 38,025,926 (GRCm39) |
*834L |
probably null |
Het |
| Avl9 |
T |
A |
6: 56,730,378 (GRCm39) |
S574T |
probably benign |
Het |
| Azin1 |
G |
A |
15: 38,493,775 (GRCm39) |
L283F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,916,114 (GRCm39) |
A1677T |
possibly damaging |
Het |
| Carm1 |
A |
T |
9: 21,497,464 (GRCm39) |
D342V |
possibly damaging |
Het |
| Ccr4 |
T |
C |
9: 114,321,216 (GRCm39) |
D283G |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
A |
T |
1: 132,450,731 (GRCm39) |
L548Q |
probably damaging |
Het |
| Copg1 |
A |
G |
6: 87,869,637 (GRCm39) |
D172G |
probably damaging |
Het |
| Cyp2j12 |
T |
A |
4: 96,009,805 (GRCm39) |
N185Y |
probably benign |
Het |
| Dapk3 |
T |
C |
10: 81,026,069 (GRCm39) |
L120P |
probably damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,298 (GRCm39) |
S204R |
probably damaging |
Het |
| Dennd2a |
G |
A |
6: 39,500,137 (GRCm39) |
R143* |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,289,367 (GRCm39) |
E1185D |
probably benign |
Het |
| Dop1b |
C |
T |
16: 93,568,699 (GRCm39) |
T1587I |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,809 (GRCm39) |
T1603A |
probably benign |
Het |
| Dym |
T |
A |
18: 75,363,089 (GRCm39) |
V531E |
probably damaging |
Het |
| Dync2i1 |
G |
T |
12: 116,193,262 (GRCm39) |
D563E |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,834,515 (GRCm39) |
S788G |
probably benign |
Het |
| Eif2b4 |
A |
T |
5: 31,345,274 (GRCm39) |
F453L |
probably damaging |
Het |
| Entpd8 |
G |
A |
2: 24,974,992 (GRCm39) |
G441D |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,592,603 (GRCm39) |
Y535N |
probably damaging |
Het |
| Garin2 |
TGATGTCACAGATGTCAC |
TGATGTCAC |
12: 78,762,057 (GRCm39) |
|
probably benign |
Het |
| Gm10340 |
T |
A |
14: 14,826,748 (GRCm39) |
D72E |
possibly damaging |
Het |
| Gm13102 |
T |
A |
4: 143,835,680 (GRCm39) |
D449E |
probably damaging |
Het |
| Hdac9 |
T |
A |
12: 34,440,220 (GRCm39) |
K386N |
probably damaging |
Het |
| Hgs |
T |
A |
11: 120,366,044 (GRCm39) |
C212* |
probably null |
Het |
| Hoxa2 |
C |
A |
6: 52,141,540 (GRCm39) |
A29S |
possibly damaging |
Het |
| Ifnar1 |
T |
A |
16: 91,296,332 (GRCm39) |
W278R |
probably damaging |
Het |
| Irf7 |
C |
T |
7: 140,843,422 (GRCm39) |
G389R |
probably null |
Het |
| Lipo3 |
G |
A |
19: 33,759,604 (GRCm39) |
L211F |
probably benign |
Het |
| Mars2 |
C |
T |
1: 55,277,741 (GRCm39) |
T448I |
probably benign |
Het |
| Mcm4 |
C |
A |
16: 15,453,138 (GRCm39) |
G184C |
probably damaging |
Het |
| Mmaa |
C |
T |
8: 79,994,598 (GRCm39) |
A403T |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,973,985 (GRCm39) |
I342V |
probably benign |
Het |
| Myb |
T |
C |
10: 21,026,405 (GRCm39) |
T188A |
possibly damaging |
Het |
| Myo1g |
C |
T |
11: 6,467,569 (GRCm39) |
|
probably null |
Het |
| Npas2 |
A |
G |
1: 39,386,708 (GRCm39) |
Q659R |
probably benign |
Het |
| Npr1 |
A |
G |
3: 90,362,497 (GRCm39) |
V941A |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,626,617 (GRCm39) |
M1R |
probably null |
Het |
| Obscn |
T |
C |
11: 58,967,705 (GRCm39) |
S2700G |
probably benign |
Het |
| Or2t35 |
T |
A |
14: 14,407,480 (GRCm38) |
L84H |
probably benign |
Het |
| Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,410 (GRCm39) |
I85N |
probably benign |
Het |
| Pdpr |
T |
A |
8: 111,850,492 (GRCm39) |
H476Q |
probably damaging |
Het |
| Pkd1l1 |
A |
T |
11: 8,821,805 (GRCm39) |
S1630T |
|
Het |
| Prdm16 |
A |
G |
4: 154,613,161 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptgdr2 |
T |
A |
19: 10,917,893 (GRCm39) |
W137R |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,187 (GRCm39) |
I784V |
possibly damaging |
Het |
| Rabepk |
G |
T |
2: 34,685,188 (GRCm39) |
D77E |
possibly damaging |
Het |
| Sh2b1 |
GGGGACCAGCTCAGCCACGGGGACCAGCTC |
GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,743 (GRCm39) |
|
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,629,616 (GRCm39) |
S994T |
possibly damaging |
Het |
| Sparc |
A |
G |
11: 55,292,783 (GRCm39) |
C147R |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,108,727 (GRCm39) |
D1191E |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,719,832 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,631 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
G |
9: 42,278,268 (GRCm39) |
D1080A |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,552,064 (GRCm39) |
W2538L |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,884,664 (GRCm39) |
F439L |
probably benign |
Het |
| Tsbp1 |
A |
T |
17: 34,667,782 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,342,396 (GRCm39) |
S141T |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,873 (GRCm39) |
D132V |
probably benign |
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 |
|
R7000:AW551984
|
UTSW |
9 |
39,512,085 (GRCm39) |
missense |
probably benign |
0.11 |
|
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 |
|
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'- ACTACAGGTTTCCATGAGTAGC -3'
(R):5'- TACCATCTCTCCGGTGAGTG -3'
Sequencing Primer
(F):5'- GCATGAAAAGAGTAATTGTACAAAGG -3'
(R):5'- CCTTTTGGATACCTGCCATTGATGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation