Incidental Mutation 'IGL01553:Arhgap44'
ID |
90640 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Arhgap44
|
Ensembl Gene |
ENSMUSG00000033389 |
Gene Name |
Rho GTPase activating protein 44 |
Synonyms |
AU040829 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01553
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64943944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 188
(N188S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000093001]
[ENSMUST00000093002]
|
AlphaFold |
Q5SSM3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047463
AA Change: N188S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039139 Gene: ENSMUSG00000033389 AA Change: N188S
Domain | Start | End | E-Value | Type |
BAR
|
1 |
242 |
2.27e-71 |
SMART |
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
low complexity region
|
530 |
556 |
N/A |
INTRINSIC |
low complexity region
|
561 |
575 |
N/A |
INTRINSIC |
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
low complexity region
|
664 |
689 |
N/A |
INTRINSIC |
low complexity region
|
695 |
707 |
N/A |
INTRINSIC |
low complexity region
|
716 |
746 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093001
AA Change: N189S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090680 Gene: ENSMUSG00000033389 AA Change: N189S
Domain | Start | End | E-Value | Type |
BAR
|
5 |
210 |
8.8e-26 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093002
AA Change: N188S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090681 Gene: ENSMUSG00000033389 AA Change: N188S
Domain | Start | End | E-Value | Type |
BAR
|
1 |
242 |
2.27e-71 |
SMART |
RhoGAP
|
266 |
442 |
1.07e-66 |
SMART |
low complexity region
|
536 |
562 |
N/A |
INTRINSIC |
low complexity region
|
567 |
581 |
N/A |
INTRINSIC |
low complexity region
|
598 |
612 |
N/A |
INTRINSIC |
low complexity region
|
622 |
637 |
N/A |
INTRINSIC |
low complexity region
|
670 |
695 |
N/A |
INTRINSIC |
low complexity region
|
701 |
713 |
N/A |
INTRINSIC |
low complexity region
|
722 |
752 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000130420
AA Change: N62S
|
SMART Domains |
Protein: ENSMUSP00000115612 Gene: ENSMUSG00000033389 AA Change: N62S
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
1 |
117 |
1.1e-29 |
PFAM |
RhoGAP
|
141 |
317 |
1.07e-66 |
SMART |
low complexity region
|
411 |
437 |
N/A |
INTRINSIC |
low complexity region
|
442 |
456 |
N/A |
INTRINSIC |
low complexity region
|
473 |
487 |
N/A |
INTRINSIC |
low complexity region
|
497 |
512 |
N/A |
INTRINSIC |
low complexity region
|
545 |
570 |
N/A |
INTRINSIC |
low complexity region
|
576 |
588 |
N/A |
INTRINSIC |
low complexity region
|
597 |
627 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
Other mutations in Arhgap44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01138:Arhgap44
|
APN |
11 |
64,932,275 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01868:Arhgap44
|
APN |
11 |
64,902,904 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01996:Arhgap44
|
APN |
11 |
64,896,322 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02093:Arhgap44
|
APN |
11 |
64,965,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02962:Arhgap44
|
APN |
11 |
64,957,987 (GRCm39) |
splice site |
probably benign |
|
IGL02963:Arhgap44
|
APN |
11 |
64,922,489 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03032:Arhgap44
|
APN |
11 |
64,915,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Arhgap44
|
UTSW |
11 |
64,902,721 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0152:Arhgap44
|
UTSW |
11 |
64,902,745 (GRCm39) |
missense |
probably benign |
0.13 |
R0402:Arhgap44
|
UTSW |
11 |
64,922,903 (GRCm39) |
splice site |
probably benign |
|
R1109:Arhgap44
|
UTSW |
11 |
64,917,642 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Arhgap44
|
UTSW |
11 |
64,944,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R1946:Arhgap44
|
UTSW |
11 |
64,902,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R2036:Arhgap44
|
UTSW |
11 |
64,932,318 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2356:Arhgap44
|
UTSW |
11 |
64,900,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R4342:Arhgap44
|
UTSW |
11 |
64,902,887 (GRCm39) |
nonsense |
probably null |
|
R4657:Arhgap44
|
UTSW |
11 |
64,896,278 (GRCm39) |
critical splice donor site |
probably null |
|
R4763:Arhgap44
|
UTSW |
11 |
64,929,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R4803:Arhgap44
|
UTSW |
11 |
64,943,921 (GRCm39) |
missense |
probably benign |
0.00 |
R5652:Arhgap44
|
UTSW |
11 |
64,915,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5663:Arhgap44
|
UTSW |
11 |
64,915,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R5833:Arhgap44
|
UTSW |
11 |
64,929,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6000:Arhgap44
|
UTSW |
11 |
64,922,910 (GRCm39) |
frame shift |
probably null |
|
R6001:Arhgap44
|
UTSW |
11 |
64,922,910 (GRCm39) |
frame shift |
probably null |
|
R6046:Arhgap44
|
UTSW |
11 |
64,922,910 (GRCm39) |
frame shift |
probably null |
|
R6066:Arhgap44
|
UTSW |
11 |
64,922,910 (GRCm39) |
frame shift |
probably null |
|
R6160:Arhgap44
|
UTSW |
11 |
65,053,375 (GRCm39) |
unclassified |
probably benign |
|
R6661:Arhgap44
|
UTSW |
11 |
64,900,834 (GRCm39) |
missense |
probably damaging |
0.97 |
R7062:Arhgap44
|
UTSW |
11 |
64,902,758 (GRCm39) |
missense |
probably benign |
0.25 |
R7388:Arhgap44
|
UTSW |
11 |
64,915,094 (GRCm39) |
nonsense |
probably null |
|
R7793:Arhgap44
|
UTSW |
11 |
64,900,750 (GRCm39) |
missense |
probably damaging |
0.99 |
R8190:Arhgap44
|
UTSW |
11 |
64,929,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8270:Arhgap44
|
UTSW |
11 |
64,912,860 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8321:Arhgap44
|
UTSW |
11 |
64,899,053 (GRCm39) |
missense |
probably benign |
0.00 |
R8369:Arhgap44
|
UTSW |
11 |
64,950,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Arhgap44
|
UTSW |
11 |
64,898,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9296:Arhgap44
|
UTSW |
11 |
64,957,933 (GRCm39) |
missense |
probably damaging |
0.99 |
R9344:Arhgap44
|
UTSW |
11 |
65,053,463 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
R9428:Arhgap44
|
UTSW |
11 |
64,899,168 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Arhgap44
|
UTSW |
11 |
64,944,038 (GRCm39) |
missense |
probably damaging |
1.00 |
X0061:Arhgap44
|
UTSW |
11 |
64,929,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |