Incidental Mutation 'IGL02963:Arhgap44'
| ID |
365427 |
| 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 # |
IGL02963
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64922489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 348
(I348N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000093002]
|
| AlphaFold |
Q5SSM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047463
AA Change: I348N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: I348N
| 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: ENSMUST00000093002
AA Change: I348N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: I348N
| 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: I222N
|
| SMART Domains |
Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: I222N
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,603,503 (GRCm39) |
L565Q |
probably damaging |
Het |
| Ap1b1 |
G |
T |
11: 4,983,738 (GRCm39) |
A664S |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,165,758 (GRCm39) |
S1005P |
possibly damaging |
Het |
| Ccn1 |
A |
G |
3: 145,353,630 (GRCm39) |
Y311H |
probably damaging |
Het |
| Cdh20 |
T |
A |
1: 104,861,823 (GRCm39) |
M1K |
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,659,334 (GRCm39) |
Q732* |
probably null |
Het |
| Cpsf3 |
T |
C |
12: 21,352,423 (GRCm39) |
S387P |
probably damaging |
Het |
| Cyp2j6 |
T |
C |
4: 96,406,421 (GRCm39) |
E450G |
probably damaging |
Het |
| Dusp13b |
T |
C |
14: 21,783,875 (GRCm39) |
T147A |
possibly damaging |
Het |
| Eif3c |
T |
C |
7: 126,155,992 (GRCm39) |
T493A |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,917,762 (GRCm39) |
V564A |
possibly damaging |
Het |
| Gtf2ird1 |
T |
G |
5: 134,418,541 (GRCm39) |
E478D |
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,154 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,526 (GRCm39) |
T104A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,105 (GRCm39) |
S567P |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 66,157,675 (GRCm39) |
|
probably benign |
Het |
| Kdm7a |
T |
C |
6: 39,120,164 (GRCm39) |
H935R |
probably damaging |
Het |
| Lcat |
A |
T |
8: 106,666,588 (GRCm39) |
F311L |
probably damaging |
Het |
| Manf |
A |
G |
9: 106,768,338 (GRCm39) |
S49P |
possibly damaging |
Het |
| Med25 |
T |
C |
7: 44,541,680 (GRCm39) |
K37E |
probably damaging |
Het |
| Ms4a4b |
T |
A |
19: 11,432,062 (GRCm39) |
I61K |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,418,001 (GRCm39) |
I3649T |
probably damaging |
Het |
| Myo18a |
T |
G |
11: 77,732,844 (GRCm39) |
|
probably benign |
Het |
| Ncoa4 |
T |
C |
14: 31,898,466 (GRCm39) |
C429R |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,745 (GRCm39) |
S190P |
probably benign |
Het |
| Pigk |
G |
T |
3: 152,472,098 (GRCm39) |
E337* |
probably null |
Het |
| Pigz |
A |
T |
16: 31,763,353 (GRCm39) |
Y137F |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,814,286 (GRCm39) |
L339P |
probably damaging |
Het |
| Rasa2 |
C |
A |
9: 96,452,838 (GRCm39) |
L349F |
probably damaging |
Het |
| Reep4 |
A |
G |
14: 70,785,410 (GRCm39) |
S186G |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,898 (GRCm39) |
K696R |
probably benign |
Het |
| Rnf220 |
A |
G |
4: 117,347,389 (GRCm39) |
F8L |
probably damaging |
Het |
| Rprm |
T |
C |
2: 53,975,226 (GRCm39) |
T31A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,853,775 (GRCm39) |
L148Q |
possibly damaging |
Het |
| Sh2d6 |
C |
T |
6: 72,494,584 (GRCm39) |
V96I |
probably benign |
Het |
| Slc16a9 |
G |
T |
10: 70,102,966 (GRCm39) |
V81F |
probably damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,902,767 (GRCm39) |
|
probably null |
Het |
| Sppl3 |
T |
A |
5: 115,199,662 (GRCm39) |
L22Q |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,947,326 (GRCm39) |
S1227P |
probably benign |
Het |
| Tbc1d1 |
T |
A |
5: 64,421,709 (GRCm39) |
V238E |
probably damaging |
Het |
| Tmco6 |
G |
A |
18: 36,871,798 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,133,205 (GRCm39) |
V287A |
probably benign |
Het |
| Uvrag |
A |
T |
7: 98,555,697 (GRCm39) |
|
probably null |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,975 (GRCm39) |
S14P |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,113 (GRCm39) |
T113A |
possibly damaging |
Het |
| Wnk4 |
A |
G |
11: 101,167,039 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
C |
5: 137,454,512 (GRCm39) |
T1431A |
unknown |
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 |
|
IGL02962:Arhgap44
|
APN |
11 |
64,957,987 (GRCm39) |
splice site |
probably benign |
|
|
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 |
Incidental Mutation