Incidental Mutation 'R4905:AW551984'
ID |
378109 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R4905 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39508454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 354
(V354E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: V354E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: V354E
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: V354E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: V354E
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128054
|
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 benign
Transcript: ENSMUST00000141370
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,448,680 (GRCm39) |
|
probably null |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abcc5 |
A |
G |
16: 20,218,678 (GRCm39) |
S235P |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,644,649 (GRCm39) |
N842S |
probably benign |
Het |
Acbd6 |
G |
A |
1: 155,500,669 (GRCm39) |
V210I |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,576,192 (GRCm39) |
V2130D |
probably damaging |
Het |
Akap5 |
A |
G |
12: 76,375,207 (GRCm39) |
E213G |
probably damaging |
Het |
Alyref |
T |
G |
11: 120,486,879 (GRCm39) |
|
probably null |
Het |
Anapc5 |
G |
T |
5: 122,955,973 (GRCm39) |
N152K |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,856,315 (GRCm39) |
D416E |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,364,162 (GRCm39) |
E844G |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,728,802 (GRCm39) |
R590H |
probably benign |
Het |
Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,644,623 (GRCm39) |
S1222P |
probably damaging |
Het |
Dhfr |
G |
A |
13: 92,502,282 (GRCm39) |
G118S |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,764,950 (GRCm39) |
R1414* |
probably null |
Het |
Dnai1 |
A |
G |
4: 41,614,269 (GRCm39) |
D315G |
probably benign |
Het |
Eogt |
T |
C |
6: 97,119,792 (GRCm39) |
R139G |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,856,408 (GRCm39) |
K2065M |
possibly damaging |
Het |
Fh1 |
C |
T |
1: 175,446,639 (GRCm39) |
G79E |
probably damaging |
Het |
Gabrg3 |
A |
G |
7: 56,374,304 (GRCm39) |
Y421H |
probably damaging |
Het |
Glipr1 |
C |
A |
10: 111,821,545 (GRCm39) |
R219L |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,891,369 (GRCm39) |
D360G |
probably benign |
Het |
Ift81 |
C |
T |
5: 122,729,142 (GRCm39) |
|
probably null |
Het |
Itsn2 |
A |
G |
12: 4,684,583 (GRCm39) |
|
probably benign |
Het |
Kri1 |
A |
T |
9: 21,198,998 (GRCm39) |
H55Q |
probably benign |
Het |
Mcidas |
C |
A |
13: 113,130,951 (GRCm39) |
A92E |
possibly damaging |
Het |
Mcidas |
C |
T |
13: 113,134,038 (GRCm39) |
T174M |
possibly damaging |
Het |
Mmp25 |
C |
A |
17: 23,863,022 (GRCm39) |
G130* |
probably null |
Het |
Myh11 |
G |
A |
16: 14,068,387 (GRCm39) |
T211M |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,800,298 (GRCm39) |
D1458G |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,139,104 (GRCm39) |
T154A |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,068,039 (GRCm39) |
I620T |
probably benign |
Het |
Nos3 |
A |
T |
5: 24,572,329 (GRCm39) |
Y134F |
probably benign |
Het |
Nup50l |
T |
A |
6: 96,142,911 (GRCm39) |
R44S |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,613 (GRCm39) |
N300S |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,721 (GRCm39) |
I36N |
probably damaging |
Het |
Or5b106 |
C |
A |
19: 13,123,541 (GRCm39) |
A161S |
probably benign |
Het |
Or6c209 |
T |
A |
10: 129,483,792 (GRCm39) |
V265E |
possibly damaging |
Het |
Pax9 |
G |
T |
12: 56,743,411 (GRCm39) |
R19S |
probably damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,945 (GRCm39) |
I338T |
probably damaging |
Het |
Plxnb2 |
G |
T |
15: 89,041,614 (GRCm39) |
T1730K |
probably damaging |
Het |
Rac1 |
A |
G |
5: 143,502,907 (GRCm39) |
|
probably null |
Het |
Samsn1 |
G |
T |
16: 75,673,353 (GRCm39) |
F174L |
possibly damaging |
Het |
Scaf1 |
G |
A |
7: 44,662,129 (GRCm39) |
T86M |
probably damaging |
Het |
Smc1b |
A |
G |
15: 84,950,428 (GRCm39) |
Y1199H |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,069,308 (GRCm39) |
I2826T |
probably benign |
Het |
Tex36 |
A |
G |
7: 133,189,182 (GRCm39) |
V130A |
probably damaging |
Het |
Tigd5 |
A |
G |
15: 75,783,252 (GRCm39) |
H538R |
probably damaging |
Het |
Tlr3 |
C |
A |
8: 45,852,260 (GRCm39) |
|
probably null |
Het |
Tubb2b |
A |
T |
13: 34,312,187 (GRCm39) |
I202N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,587,674 (GRCm39) |
V1453A |
probably benign |
Het |
Unc5c |
A |
T |
3: 141,507,071 (GRCm39) |
T608S |
probably benign |
Het |
Vrk1 |
C |
A |
12: 106,018,087 (GRCm39) |
H119N |
probably damaging |
Het |
Wdr53 |
T |
A |
16: 32,075,476 (GRCm39) |
M227K |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,875,746 (GRCm39) |
D129G |
possibly damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,992 (GRCm39) |
I224T |
probably damaging |
Het |
Zdhhc1 |
T |
A |
8: 106,210,326 (GRCm39) |
E30D |
probably damaging |
Het |
Zscan29 |
C |
G |
2: 120,991,864 (GRCm39) |
R540T |
possibly 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 |
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 |
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'- CTCTCCTATATAGCAGAAGCCTGGAG -3'
(R):5'- GGGTAGGTGTAAAGCTGACC -3'
Sequencing Primer
(F):5'- AGCCTGGAGTACATACAGTGTTTCC -3'
(R):5'- TGTAAAGCTGACCTGAACTTGG -3'
|
Posted On |
2016-04-15 |