Incidental Mutation 'R5833:Arhgap44'
| ID |
449415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap44
|
| Ensembl Gene |
ENSMUSG00000033389 |
| Gene Name |
Rho GTPase activating protein 44 |
| Synonyms |
AU040829 |
| MMRRC Submission |
043221-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5833 (G1)
|
| Quality Score |
121 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 64929503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 267
(E267A)
|
| 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: E267A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: E267A
| 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: E267A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: E267A
| 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: ENSMUST00000119723
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000130420
AA Change: E141A
|
| SMART Domains |
Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: E141A
| 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 |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 95.7%
- 20x: 84.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcb4 |
T |
C |
5: 9,008,314 (GRCm39) |
Y1161H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,886,722 (GRCm39) |
M276L |
probably benign |
Het |
| Adi1 |
A |
G |
12: 28,731,041 (GRCm39) |
D166G |
probably benign |
Het |
| Arl11 |
T |
A |
14: 61,548,511 (GRCm39) |
L107Q |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,716 (GRCm39) |
D247G |
probably benign |
Het |
| C4b |
T |
C |
17: 34,949,647 (GRCm39) |
D1481G |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,245,326 (GRCm39) |
F242L |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,855,922 (GRCm39) |
K298E |
probably benign |
Het |
| Dcaf5 |
A |
G |
12: 80,395,203 (GRCm39) |
V322A |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,832,265 (GRCm39) |
N175S |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,744,379 (GRCm39) |
M21K |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,729,838 (GRCm39) |
D55G |
probably damaging |
Het |
| Gm5157 |
A |
G |
7: 20,919,318 (GRCm39) |
M75T |
possibly damaging |
Het |
| Gm6309 |
A |
G |
5: 146,105,128 (GRCm39) |
S262P |
probably damaging |
Het |
| Gpnmb |
T |
C |
6: 49,020,952 (GRCm39) |
L82P |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Itpripl2 |
A |
C |
7: 118,089,194 (GRCm39) |
V455G |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,549,287 (GRCm39) |
V1087A |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,172,647 (GRCm39) |
D1801G |
possibly damaging |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Mtmr4 |
T |
A |
11: 87,495,875 (GRCm39) |
Y570* |
probably null |
Het |
| Osbpl1a |
G |
T |
18: 12,921,419 (GRCm39) |
N128K |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,155 (GRCm39) |
H178Q |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,989 (GRCm39) |
F214Y |
probably damaging |
Het |
| Qki |
A |
T |
17: 10,435,316 (GRCm39) |
L236H |
probably damaging |
Het |
| Rexo2 |
G |
T |
9: 48,380,171 (GRCm39) |
D220E |
probably benign |
Het |
| Rras |
A |
G |
7: 44,670,715 (GRCm39) |
E195G |
possibly damaging |
Het |
| Serpinb11 |
T |
C |
1: 107,305,392 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,339,352 (GRCm39) |
M430K |
possibly damaging |
Het |
| Tardbp |
A |
C |
4: 148,702,117 (GRCm39) |
V86G |
probably damaging |
Het |
| Trim43c |
A |
G |
9: 88,725,090 (GRCm39) |
Q203R |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,133,913 (GRCm39) |
L229P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAGAGAATGCAGTGCC -3'
(R):5'- TCTTTGGTACTCTGTGCAGAATC -3'
Sequencing Primer
(F):5'- TCTGCAGAAGAGACAATATTGCC -3'
(R):5'- TACTCTGTGCAGAATCTGGATAAGG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation