Incidental Mutation 'IGL01996:Arhgap44'
ID |
182929 |
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 # |
IGL01996
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to A
at 64896322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000071891]
[ENSMUST00000093002]
[ENSMUST00000101049]
[ENSMUST00000108697]
|
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: ENSMUST00000071891
|
SMART Domains |
Protein: ENSMUSP00000071788 Gene: ENSMUSG00000020549
Domain | Start | End | E-Value | Type |
Pfam:Lactamase_B_4
|
53 |
112 |
1.5e-16 |
PFAM |
Lactamase_B
|
494 |
698 |
1.75e0 |
SMART |
low complexity region
|
772 |
791 |
N/A |
INTRINSIC |
|
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 |
probably benign
Transcript: ENSMUST00000101049
|
SMART Domains |
Protein: ENSMUSP00000098610 Gene: ENSMUSG00000020549
Domain | Start | End | E-Value | Type |
Pfam:Lactamase_B_4
|
53 |
112 |
3.1e-17 |
PFAM |
Lactamase_B
|
494 |
698 |
1.75e0 |
SMART |
low complexity region
|
772 |
791 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108697
|
SMART Domains |
Protein: ENSMUSP00000104337 Gene: ENSMUSG00000020549
Domain | Start | End | E-Value | Type |
Pfam:Lactamase_B_4
|
53 |
112 |
9.8e-19 |
PFAM |
Lactamase_B
|
493 |
697 |
1.75e0 |
SMART |
low complexity region
|
771 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128693
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130420
|
SMART Domains |
Protein: ENSMUSP00000115612 Gene: ENSMUSG00000033389
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140369
|
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 |
3110009E18Rik |
T |
C |
1: 120,078,430 (GRCm39) |
V29A |
possibly damaging |
Het |
Adarb1 |
A |
G |
10: 77,158,051 (GRCm39) |
L132P |
probably damaging |
Het |
Afg3l1 |
T |
G |
8: 124,228,633 (GRCm39) |
M733R |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,121,225 (GRCm39) |
R899C |
probably benign |
Het |
Asns |
T |
C |
6: 7,682,378 (GRCm39) |
D189G |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,816,910 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,397,852 (GRCm39) |
L564H |
probably damaging |
Het |
Ccdc167 |
A |
G |
17: 29,924,461 (GRCm39) |
|
probably null |
Het |
Ccdc178 |
A |
G |
18: 22,230,813 (GRCm39) |
Y353H |
probably damaging |
Het |
Clca3b |
A |
T |
3: 144,554,924 (GRCm39) |
S41R |
probably benign |
Het |
Dpep3 |
T |
C |
8: 106,701,358 (GRCm39) |
N397S |
probably damaging |
Het |
Eif1 |
T |
C |
11: 100,211,826 (GRCm39) |
I83T |
probably benign |
Het |
Enah |
A |
T |
1: 181,784,070 (GRCm39) |
W80R |
unknown |
Het |
F2rl1 |
C |
T |
13: 95,650,432 (GRCm39) |
C150Y |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,434,440 (GRCm39) |
R387G |
possibly damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,760 (GRCm39) |
T68A |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,740,846 (GRCm39) |
K1412R |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,709,584 (GRCm39) |
S1321G |
probably damaging |
Het |
H4c11 |
G |
A |
13: 21,919,308 (GRCm39) |
G15S |
unknown |
Het |
Itgb7 |
C |
T |
15: 102,126,412 (GRCm39) |
G508D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,895,545 (GRCm39) |
I333T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,934,542 (GRCm39) |
D2115G |
probably damaging |
Het |
Lmtk3 |
G |
A |
7: 45,442,871 (GRCm39) |
|
probably null |
Het |
Lrpprc |
A |
G |
17: 85,080,698 (GRCm39) |
Y176H |
probably benign |
Het |
Mier1 |
T |
C |
4: 102,984,473 (GRCm39) |
S22P |
possibly damaging |
Het |
Mme |
A |
T |
3: 63,250,970 (GRCm39) |
N337I |
probably benign |
Het |
Mthfd1 |
A |
G |
12: 76,350,679 (GRCm39) |
Y687C |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,788,419 (GRCm39) |
M373T |
probably damaging |
Het |
Nudcd1 |
A |
T |
15: 44,269,357 (GRCm39) |
F101Y |
probably benign |
Het |
Nup133 |
T |
A |
8: 124,673,334 (GRCm39) |
I66L |
probably benign |
Het |
Or10j7 |
T |
C |
1: 173,011,294 (GRCm39) |
T236A |
probably benign |
Het |
Or11j4 |
T |
G |
14: 50,631,116 (GRCm39) |
M301R |
probably damaging |
Het |
Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
Osbpl5 |
A |
G |
7: 143,261,081 (GRCm39) |
|
probably null |
Het |
Paqr8 |
T |
C |
1: 21,005,628 (GRCm39) |
F261L |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,482,084 (GRCm39) |
E1452G |
probably damaging |
Het |
Polh |
T |
C |
17: 46,483,927 (GRCm39) |
D446G |
probably benign |
Het |
Psg19 |
A |
T |
7: 18,523,986 (GRCm39) |
M353K |
possibly damaging |
Het |
Sap25 |
T |
C |
5: 137,640,080 (GRCm39) |
|
probably null |
Het |
Sap30l |
C |
T |
11: 57,700,777 (GRCm39) |
R144* |
probably null |
Het |
Sema6b |
C |
T |
17: 56,438,157 (GRCm39) |
V144M |
probably damaging |
Het |
Sfmbt2 |
T |
C |
2: 10,444,837 (GRCm39) |
Y228H |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,230 (GRCm39) |
D946G |
probably damaging |
Het |
Slc11a1 |
T |
A |
1: 74,415,965 (GRCm39) |
L52Q |
possibly damaging |
Het |
Sptlc3 |
T |
C |
2: 139,423,424 (GRCm39) |
|
probably benign |
Het |
Tgfb1i1 |
T |
C |
7: 127,848,464 (GRCm39) |
|
probably benign |
Het |
Tifa |
T |
C |
3: 127,590,229 (GRCm39) |
|
probably benign |
Het |
Tomm40l |
C |
T |
1: 171,047,224 (GRCm39) |
V265M |
possibly damaging |
Het |
Trim45 |
C |
A |
3: 100,835,425 (GRCm39) |
Y469* |
probably null |
Het |
Ttc21a |
G |
T |
9: 119,787,182 (GRCm39) |
A730S |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,001 (GRCm39) |
D184E |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,832,222 (GRCm39) |
I189N |
possibly 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 |
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 |
2014-05-07 |