Incidental Mutation 'R3414:AW554918'
ID |
266748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW554918
|
Ensembl Gene |
ENSMUSG00000033632 |
Gene Name |
expressed sequence AW554918 |
Synonyms |
|
MMRRC Submission |
040632-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R3414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
25302056-25600378 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 25533129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 261
(T261K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036619]
[ENSMUST00000097643]
[ENSMUST00000100131]
[ENSMUST00000159605]
[ENSMUST00000160530]
[ENSMUST00000165400]
|
AlphaFold |
Q6NZK5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036619
AA Change: T464K
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000046227 Gene: ENSMUSG00000033632 AA Change: T464K
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
1.4e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097643
AA Change: T497K
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095248 Gene: ENSMUSG00000033632 AA Change: T497K
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
2.5e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100131
AA Change: T261K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097708 Gene: ENSMUSG00000033632 AA Change: T261K
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
1 |
211 |
9.6e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159605
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160530
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165400
AA Change: T497K
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128437 Gene: ENSMUSG00000033632 AA Change: T497K
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
1.6e-160 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably damaging |
Het |
|
Other mutations in AW554918 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:AW554918
|
APN |
18 |
25,553,122 (GRCm39) |
nonsense |
probably null |
|
IGL01443:AW554918
|
APN |
18 |
25,478,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01973:AW554918
|
APN |
18 |
25,553,056 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02743:AW554918
|
APN |
18 |
25,423,001 (GRCm39) |
nonsense |
probably null |
|
PIT4802001:AW554918
|
UTSW |
18 |
25,473,132 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0081:AW554918
|
UTSW |
18 |
25,477,959 (GRCm39) |
missense |
probably benign |
0.00 |
R0567:AW554918
|
UTSW |
18 |
25,533,092 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0709:AW554918
|
UTSW |
18 |
25,596,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:AW554918
|
UTSW |
18 |
25,553,067 (GRCm39) |
missense |
probably benign |
0.05 |
R1418:AW554918
|
UTSW |
18 |
25,472,756 (GRCm39) |
splice site |
probably null |
|
R1530:AW554918
|
UTSW |
18 |
25,533,161 (GRCm39) |
missense |
probably damaging |
0.97 |
R2406:AW554918
|
UTSW |
18 |
25,473,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3815:AW554918
|
UTSW |
18 |
25,533,104 (GRCm39) |
missense |
probably benign |
0.42 |
R4683:AW554918
|
UTSW |
18 |
25,472,852 (GRCm39) |
missense |
probably benign |
0.04 |
R4722:AW554918
|
UTSW |
18 |
25,307,772 (GRCm39) |
nonsense |
probably null |
|
R4843:AW554918
|
UTSW |
18 |
25,473,057 (GRCm39) |
missense |
probably benign |
0.00 |
R5199:AW554918
|
UTSW |
18 |
25,473,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:AW554918
|
UTSW |
18 |
25,308,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5580:AW554918
|
UTSW |
18 |
25,472,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:AW554918
|
UTSW |
18 |
25,422,906 (GRCm39) |
splice site |
probably null |
|
R7388:AW554918
|
UTSW |
18 |
25,473,170 (GRCm39) |
missense |
probably benign |
0.05 |
R7399:AW554918
|
UTSW |
18 |
25,302,117 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8249:AW554918
|
UTSW |
18 |
25,472,775 (GRCm39) |
missense |
probably benign |
0.33 |
R8905:AW554918
|
UTSW |
18 |
25,473,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R8916:AW554918
|
UTSW |
18 |
25,423,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R9256:AW554918
|
UTSW |
18 |
25,423,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R9794:AW554918
|
UTSW |
18 |
25,337,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCATAGTTGTATTGAAACTCATGC -3'
(R):5'- TGAGAATCTAGTGGCTGGGC -3'
Sequencing Primer
(F):5'- ATATGATCTGTGTTTTTCCCTGTGC -3'
(R):5'- CCACAGCTTTCCAGGCATATG -3'
|
Posted On |
2015-02-18 |