Incidental Mutation 'R2406:AW554918'
ID |
248031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW554918
|
Ensembl Gene |
ENSMUSG00000033632 |
Gene Name |
expressed sequence AW554918 |
Synonyms |
|
MMRRC Submission |
040372-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R2406 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
25302056-25600378 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25473344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 180
(I180V)
|
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: I383V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000046227 Gene: ENSMUSG00000033632 AA Change: I383V
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
1.4e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097643
AA Change: I383V
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000095248 Gene: ENSMUSG00000033632 AA Change: I383V
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
2.5e-154 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100131
AA Change: I180V
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000097708 Gene: ENSMUSG00000033632 AA Change: I180V
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 |
probably benign
Transcript: ENSMUST00000165400
AA Change: I383V
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128437 Gene: ENSMUSG00000033632 AA Change: I383V
Domain | Start | End | E-Value | Type |
Pfam:KIAA1328
|
92 |
414 |
1.6e-160 |
PFAM |
|
Meta Mutation Damage Score |
0.0844 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,352 (GRCm39) |
V230E |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,230,064 (GRCm39) |
|
probably benign |
Het |
C9 |
T |
C |
15: 6,512,780 (GRCm39) |
S301P |
possibly damaging |
Het |
Cdc42bpb |
T |
C |
12: 111,268,558 (GRCm39) |
Q1214R |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,697,043 (GRCm39) |
I351T |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,741,723 (GRCm39) |
E1177G |
probably damaging |
Het |
Colgalt1 |
G |
A |
8: 72,070,312 (GRCm39) |
C198Y |
probably damaging |
Het |
Dennd4b |
C |
T |
3: 90,182,795 (GRCm39) |
R871C |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,611,457 (GRCm39) |
D433V |
probably benign |
Het |
Eif4ebp1 |
A |
G |
8: 27,763,362 (GRCm39) |
I52V |
probably damaging |
Het |
Fbxw5 |
T |
C |
2: 25,394,195 (GRCm39) |
I86T |
probably damaging |
Het |
Gm10650 |
A |
G |
3: 127,833,530 (GRCm39) |
|
noncoding transcript |
Het |
Helz |
G |
A |
11: 107,577,378 (GRCm39) |
A1910T |
unknown |
Het |
Hsf2 |
C |
T |
10: 57,373,642 (GRCm39) |
T70I |
probably damaging |
Het |
Ifih1 |
A |
G |
2: 62,437,447 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
T |
C |
19: 4,372,546 (GRCm39) |
D933G |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,429,346 (GRCm39) |
I832T |
probably damaging |
Het |
Mapk15 |
T |
C |
15: 75,870,697 (GRCm39) |
S512P |
possibly damaging |
Het |
Mybpc2 |
A |
T |
7: 44,171,149 (GRCm39) |
I134N |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,150,000 (GRCm39) |
E1853G |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,897,279 (GRCm39) |
V690A |
probably damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or5b97 |
A |
G |
19: 12,878,991 (GRCm39) |
V51A |
probably benign |
Het |
Pacsin2 |
A |
T |
15: 83,269,313 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
A |
T |
18: 63,155,596 (GRCm39) |
L2416Q |
probably damaging |
Het |
Pip5k1c |
T |
A |
10: 81,144,858 (GRCm39) |
I233N |
probably damaging |
Het |
Ptcd3 |
T |
C |
6: 71,865,631 (GRCm39) |
D428G |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,126,501 (GRCm39) |
D84G |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,120,359 (GRCm39) |
D798G |
probably benign |
Het |
Setd7 |
A |
G |
3: 51,450,097 (GRCm39) |
Y110H |
probably damaging |
Het |
Sgta |
T |
C |
10: 80,887,081 (GRCm39) |
I61M |
possibly damaging |
Het |
Shank1 |
A |
G |
7: 44,006,376 (GRCm39) |
D2031G |
possibly damaging |
Het |
Skint5 |
A |
G |
4: 113,799,864 (GRCm39) |
Y88H |
probably damaging |
Het |
Spata31f1a |
A |
T |
4: 42,851,696 (GRCm39) |
D153E |
probably benign |
Het |
Stox1 |
T |
C |
10: 62,499,945 (GRCm39) |
I872V |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,025 (GRCm39) |
F385L |
probably benign |
Het |
Top3a |
A |
G |
11: 60,646,838 (GRCm39) |
F258L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,780,499 (GRCm39) |
Y1084C |
probably damaging |
Het |
Ubtf |
A |
T |
11: 102,199,528 (GRCm39) |
Y504* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 102,036,125 (GRCm39) |
T2098A |
probably damaging |
Het |
Wnk2 |
G |
T |
13: 49,214,964 (GRCm39) |
T1194K |
possibly damaging |
Het |
Zbtb40 |
T |
A |
4: 136,725,879 (GRCm39) |
E560V |
probably benign |
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 |
R3414:AW554918
|
UTSW |
18 |
25,533,129 (GRCm39) |
missense |
possibly damaging |
0.76 |
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'- AAGTGGAGCTTATGTTCATGAGAAC -3'
(R):5'- TTCTCTAGCAAGTCAAGGTGC -3'
Sequencing Primer
(F):5'- TGAGAACTATCACCCTACAAACATGG -3'
(R):5'- CAAGTCAAGGTGCTGAAAAATCTC -3'
|
Posted On |
2014-11-11 |