Incidental Mutation 'R0269:AW551984'
ID |
35151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
038495-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0269 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39511246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 153
(Y153C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: Y153C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: Y153C
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119722
AA Change: Y153C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: Y153C
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 |
noncoding transcript
Transcript: ENSMUST00000136814
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141370
AA Change: Y153C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112 AA Change: Y153C
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Meta Mutation Damage Score |
0.8387 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.1%
- 20x: 93.6%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
T |
15: 84,838,201 (GRCm39) |
V231I |
possibly damaging |
Het |
Abca1 |
T |
C |
4: 53,044,228 (GRCm39) |
D1798G |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
Amhr2 |
T |
C |
15: 102,355,503 (GRCm39) |
C189R |
probably benign |
Het |
Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
Cd46 |
T |
G |
1: 194,746,996 (GRCm39) |
I339L |
probably benign |
Het |
Cdkn2aip |
A |
G |
8: 48,165,012 (GRCm39) |
S234P |
probably damaging |
Het |
Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
Csf2rb2 |
G |
T |
15: 78,173,065 (GRCm39) |
T265N |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,762,340 (GRCm39) |
F436L |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,753,446 (GRCm39) |
F24S |
probably benign |
Het |
Defb12 |
G |
T |
8: 19,164,375 (GRCm39) |
A34E |
probably damaging |
Het |
Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
Gldc |
T |
A |
19: 30,096,002 (GRCm39) |
I670F |
probably damaging |
Het |
Guf1 |
A |
C |
5: 69,716,942 (GRCm39) |
Q168P |
probably damaging |
Het |
Hcn2 |
A |
G |
10: 79,570,075 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,203,942 (GRCm39) |
M190V |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,738,767 (GRCm39) |
E294G |
probably benign |
Het |
Kdelr1 |
T |
A |
7: 45,523,463 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,090,511 (GRCm39) |
H1158Q |
probably damaging |
Het |
Laptm5 |
A |
T |
4: 130,658,127 (GRCm39) |
N185Y |
probably benign |
Het |
Mgat4a |
A |
G |
1: 37,529,388 (GRCm39) |
Y164H |
possibly damaging |
Het |
Mlh3 |
C |
A |
12: 85,315,179 (GRCm39) |
V336L |
probably benign |
Het |
Myadm |
A |
G |
7: 3,345,273 (GRCm39) |
T12A |
unknown |
Het |
Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
Or8g34 |
T |
C |
9: 39,373,090 (GRCm39) |
M118T |
probably damaging |
Het |
Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
Recql5 |
T |
C |
11: 115,819,050 (GRCm39) |
D172G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
Rgs7 |
A |
G |
1: 175,098,386 (GRCm39) |
S58P |
possibly damaging |
Het |
Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
Sgsm1 |
T |
C |
5: 113,434,795 (GRCm39) |
|
probably null |
Het |
Slc22a19 |
A |
T |
19: 7,686,986 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,936,332 (GRCm39) |
Y428* |
probably null |
Het |
Smarca4 |
T |
G |
9: 21,547,497 (GRCm39) |
M260R |
probably benign |
Het |
Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,830,069 (GRCm39) |
I322V |
probably benign |
Het |
Stxbp1 |
A |
C |
2: 32,692,795 (GRCm39) |
I407S |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,712,661 (GRCm39) |
I61N |
probably damaging |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
Trmt11 |
T |
A |
10: 30,463,485 (GRCm39) |
H210L |
probably benign |
Het |
Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
A |
1: 188,542,373 (GRCm39) |
M3313K |
probably benign |
Het |
Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
probably damaging |
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 |
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 |
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'- GCTGATAGTGGCAACCATGCTGAG -3'
(R):5'- CGCCTGTCAAAGTCCCTGGAAATAG -3'
Sequencing Primer
(F):5'- TGTGTAGGGCAATTCCTCCAAAG -3'
(R):5'- AGGTATGAAGAGGCCCTCTCTG -3'
|
Posted On |
2013-05-09 |