Incidental Mutation 'IGL02962:Arhgap44'
ID |
365409 |
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 # |
IGL02962
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 64957987 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090681
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000093001]
[ENSMUST00000093002]
|
AlphaFold |
Q5SSM3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047463
|
SMART Domains |
Protein: ENSMUSP00000039139 Gene: ENSMUSG00000033389
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 benign
Transcript: ENSMUST00000093001
|
SMART Domains |
Protein: ENSMUSP00000090680 Gene: ENSMUSG00000033389
Domain | Start | End | E-Value | Type |
BAR
|
5 |
210 |
8.8e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093002
|
SMART Domains |
Protein: ENSMUSP00000090681 Gene: ENSMUSG00000033389
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 |
noncoding transcript
Transcript: ENSMUST00000102439
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably damaging |
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 |
IGL01553:Arhgap44
|
APN |
11 |
64,943,944 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-12-18 |