Incidental Mutation 'R8358:AW551984'
ID |
645868 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
MMRRC Submission |
067871-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R8358 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39510651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: V228A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: V228A
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: V228A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: V228A
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,544,449 (GRCm39) |
L46* |
probably null |
Het |
Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
Oasl1 |
T |
A |
5: 115,075,465 (GRCm39) |
F508L |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
Psg23 |
T |
C |
7: 18,348,522 (GRCm39) |
D95G |
probably benign |
Het |
Ptprr |
T |
C |
10: 115,884,180 (GRCm39) |
I79T |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
Trim54 |
A |
G |
5: 31,294,338 (GRCm39) |
T325A |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
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 |
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 |
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'- TGAGGACCTTCAGTATTTCAGAC -3'
(R):5'- GGATCCTCCACACTTTCTGAGC -3'
Sequencing Primer
(F):5'- AGGACCTTCAGTATTTCAGACTGTTG -3'
(R):5'- GATCCTCCACACTTTCTGAGCTACTG -3'
|
Posted On |
2020-09-02 |