Incidental Mutation 'IGL03240:AW551984'
| ID |
414232 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AW551984
|
| Ensembl Gene |
ENSMUSG00000038112 |
| Gene Name |
expressed sequence AW551984 |
| Synonyms |
|
| Accession Numbers |
Genbank: NM_178737; MGI: 2143322 |
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39587396-39604403 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 39589122 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 780
(R780L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
|
| AlphaFold |
Q8BGF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042485
AA Change: R780L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: R780L
| 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: ENSMUST00000119722
AA Change: R780L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: R780L
| 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 |
noncoding transcript
Transcript: ENSMUST00000147753
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,556,716 (GRCm38) |
|
probably benign |
Het |
| AA467197 |
A |
G |
2: 122,639,262 (GRCm38) |
T57A |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,495,905 (GRCm38) |
D1852E |
probably damaging |
Het |
| Arg2 |
T |
A |
12: 79,131,831 (GRCm38) |
|
probably null |
Het |
| Arhgef4 |
A |
G |
1: 34,806,026 (GRCm38) |
D1437G |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,927,567 (GRCm38) |
K503* |
probably null |
Het |
| Cdk2ap1 |
A |
T |
5: 124,346,144 (GRCm38) |
H96Q |
probably damaging |
Het |
| Col11a1 |
T |
A |
3: 114,217,210 (GRCm38) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,678,383 (GRCm38) |
|
probably null |
Het |
| Col22a1 |
G |
A |
15: 71,807,928 (GRCm38) |
P877S |
unknown |
Het |
| Col7a1 |
A |
T |
9: 108,968,373 (GRCm38) |
N1681Y |
probably null |
Het |
| Dennd1b |
T |
G |
1: 139,139,392 (GRCm38) |
S398A |
possibly damaging |
Het |
| Fam126b |
A |
G |
1: 58,529,917 (GRCm38) |
L501P |
probably damaging |
Het |
| Fam129b |
A |
C |
2: 32,922,097 (GRCm38) |
Y397S |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,361,161 (GRCm38) |
|
probably benign |
Het |
| Hadh |
T |
C |
3: 131,248,543 (GRCm38) |
S98G |
probably benign |
Het |
| Has2 |
C |
T |
15: 56,668,260 (GRCm38) |
R353H |
probably damaging |
Het |
| Heg1 |
T |
C |
16: 33,727,413 (GRCm38) |
S857P |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,400,732 (GRCm38) |
R43* |
probably null |
Het |
| Htr4 |
A |
T |
18: 62,437,621 (GRCm38) |
H249L |
possibly damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,114,974 (GRCm38) |
S495P |
probably benign |
Het |
| Kars |
T |
C |
8: 112,005,639 (GRCm38) |
D99G |
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,537,568 (GRCm38) |
S333C |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,124,125 (GRCm38) |
I1163V |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,938,327 (GRCm38) |
I377F |
possibly damaging |
Het |
| Mcm5 |
T |
A |
8: 75,115,902 (GRCm38) |
I268N |
probably damaging |
Het |
| Mmp21 |
G |
T |
7: 133,674,571 (GRCm38) |
H514Q |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,338,019 (GRCm38) |
P1478S |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,445,666 (GRCm38) |
T495A |
possibly damaging |
Het |
| Myo10 |
T |
A |
15: 25,701,602 (GRCm38) |
V21E |
probably damaging |
Het |
| Nap1l4 |
A |
G |
7: 143,538,245 (GRCm38) |
S49P |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,177,092 (GRCm38) |
S369F |
probably damaging |
Het |
| Olfr1009 |
A |
T |
2: 85,722,331 (GRCm38) |
K309* |
probably null |
Het |
| Pon2 |
A |
G |
6: 5,265,316 (GRCm38) |
|
probably benign |
Het |
| Ppdpf |
T |
C |
2: 181,187,880 (GRCm38) |
S43P |
probably benign |
Het |
| Psmd6 |
A |
G |
14: 14,112,393 (GRCm38) |
|
probably benign |
Het |
| Ptprk |
G |
T |
10: 28,492,961 (GRCm38) |
R643L |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,688,507 (GRCm38) |
Y455F |
probably benign |
Het |
| Sec23b |
G |
A |
2: 144,566,759 (GRCm38) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,268,026 (GRCm38) |
L751P |
probably damaging |
Het |
| Snx6 |
T |
A |
12: 54,783,443 (GRCm38) |
H77L |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,048,188 (GRCm38) |
C3472F |
possibly damaging |
Het |
| Trpd52l3 |
A |
T |
19: 30,003,996 (GRCm38) |
E50D |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,217,328 (GRCm38) |
D205G |
probably damaging |
Het |
| Tubgcp3 |
A |
T |
8: 12,649,797 (GRCm38) |
V352E |
probably benign |
Het |
| Tulp2 |
T |
G |
7: 45,522,310 (GRCm38) |
F436C |
probably damaging |
Het |
| Uhrf1bp1 |
C |
A |
17: 27,893,253 (GRCm38) |
N1167K |
probably benign |
Het |
| Vmn1r123 |
T |
A |
7: 21,162,357 (GRCm38) |
M58K |
possibly damaging |
Het |
| Vmn2r113 |
T |
C |
17: 22,955,957 (GRCm38) |
V514A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,955,047 (GRCm38) |
V2982A |
probably benign |
Het |
| Ywhaq |
T |
C |
12: 21,395,000 (GRCm38) |
T215A |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,396,873 (GRCm38) |
H64L |
probably damaging |
Het |
|
| Other mutations in AW551984 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00429:AW551984
|
APN |
9 |
39,592,849 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL00869:AW551984
|
APN |
9 |
39,593,434 (GRCm38) |
splice site |
probably benign |
|
|
IGL01411:AW551984
|
APN |
9 |
39,593,791 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL01744:AW551984
|
APN |
9 |
39,591,272 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02102:AW551984
|
APN |
9 |
39,589,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02149:AW551984
|
APN |
9 |
39,592,924 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02151:AW551984
|
APN |
9 |
39,592,945 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL02154:AW551984
|
APN |
9 |
39,589,102 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02158:AW551984
|
APN |
9 |
39,599,325 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL02574:AW551984
|
APN |
9 |
39,589,086 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02754:AW551984
|
APN |
9 |
39,593,328 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02754:AW551984
|
APN |
9 |
39,596,626 (GRCm38) |
nonsense |
probably null |
|
|
IGL02838:AW551984
|
APN |
9 |
39,594,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03328:AW551984
|
APN |
9 |
39,597,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03374:AW551984
|
APN |
9 |
39,599,766 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
PIT4260001:AW551984
|
UTSW |
9 |
39,592,979 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0141:AW551984
|
UTSW |
9 |
39,590,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0269:AW551984
|
UTSW |
9 |
39,599,950 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0365:AW551984
|
UTSW |
9 |
39,599,321 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0453:AW551984
|
UTSW |
9 |
39,600,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0481:AW551984
|
UTSW |
9 |
39,600,616 (GRCm38) |
missense |
probably null |
1.00 |
|
R1005:AW551984
|
UTSW |
9 |
39,593,733 (GRCm38) |
nonsense |
probably null |
|
|
R1585:AW551984
|
UTSW |
9 |
39,599,336 (GRCm38) |
nonsense |
probably null |
|
|
R2177:AW551984
|
UTSW |
9 |
39,599,815 (GRCm38) |
missense |
probably benign |
|
|
R3117:AW551984
|
UTSW |
9 |
39,593,360 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3119:AW551984
|
UTSW |
9 |
39,593,360 (GRCm38) |
missense |
probably benign |
0.08 |
|
R3162:AW551984
|
UTSW |
9 |
39,593,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3162:AW551984
|
UTSW |
9 |
39,593,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3836:AW551984
|
UTSW |
9 |
39,597,908 (GRCm38) |
unclassified |
probably benign |
|
|
R3837:AW551984
|
UTSW |
9 |
39,597,908 (GRCm38) |
unclassified |
probably benign |
|
|
R3839:AW551984
|
UTSW |
9 |
39,597,908 (GRCm38) |
unclassified |
probably benign |
|
|
R4299:AW551984
|
UTSW |
9 |
39,592,979 (GRCm38) |
missense |
probably benign |
0.08 |
|
R4422:AW551984
|
UTSW |
9 |
39,600,077 (GRCm38) |
missense |
probably null |
0.00 |
|
R4713:AW551984
|
UTSW |
9 |
39,597,153 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4905:AW551984
|
UTSW |
9 |
39,597,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4966:AW551984
|
UTSW |
9 |
39,597,176 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5022:AW551984
|
UTSW |
9 |
39,597,965 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5041:AW551984
|
UTSW |
9 |
39,600,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5342:AW551984
|
UTSW |
9 |
39,594,551 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5383:AW551984
|
UTSW |
9 |
39,590,698 (GRCm38) |
missense |
probably benign |
|
|
R5443:AW551984
|
UTSW |
9 |
39,598,029 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5532:AW551984
|
UTSW |
9 |
39,597,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5536:AW551984
|
UTSW |
9 |
39,592,873 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5586:AW551984
|
UTSW |
9 |
39,591,263 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5601:AW551984
|
UTSW |
9 |
39,591,267 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5618:AW551984
|
UTSW |
9 |
39,590,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5701:AW551984
|
UTSW |
9 |
39,592,822 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6122:AW551984
|
UTSW |
9 |
39,593,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6142:AW551984
|
UTSW |
9 |
39,597,114 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6272:AW551984
|
UTSW |
9 |
39,598,037 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6429:AW551984
|
UTSW |
9 |
39,600,614 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6659:AW551984
|
UTSW |
9 |
39,589,099 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6670:AW551984
|
UTSW |
9 |
39,592,996 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6791:AW551984
|
UTSW |
9 |
39,600,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7000:AW551984
|
UTSW |
9 |
39,600,789 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7077:AW551984
|
UTSW |
9 |
39,591,427 (GRCm38) |
missense |
probably benign |
|
|
R7083:AW551984
|
UTSW |
9 |
39,597,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7352:AW551984
|
UTSW |
9 |
39,592,925 (GRCm38) |
missense |
probably benign |
|
|
R7475:AW551984
|
UTSW |
9 |
39,597,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7534:AW551984
|
UTSW |
9 |
39,591,481 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7542:AW551984
|
UTSW |
9 |
39,594,631 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7708:AW551984
|
UTSW |
9 |
39,593,755 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7729:AW551984
|
UTSW |
9 |
39,599,775 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7955:AW551984
|
UTSW |
9 |
39,596,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8122:AW551984
|
UTSW |
9 |
39,599,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8358:AW551984
|
UTSW |
9 |
39,599,355 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8402:AW551984
|
UTSW |
9 |
39,597,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8683:AW551984
|
UTSW |
9 |
39,599,709 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8810:AW551984
|
UTSW |
9 |
39,600,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8857:AW551984
|
UTSW |
9 |
39,600,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8871:AW551984
|
UTSW |
9 |
39,589,702 (GRCm38) |
nonsense |
probably null |
|
|
R9019:AW551984
|
UTSW |
9 |
39,597,677 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:AW551984
|
UTSW |
9 |
39,590,603 (GRCm38) |
nonsense |
probably null |
|
|
ZE80:AW551984
|
UTSW |
9 |
39,593,667 (GRCm38) |
splice site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation