Incidental Mutation 'R6661:Arhgap44'
| ID |
526850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgap44
|
| Ensembl Gene |
ENSMUSG00000033389 |
| Gene Name |
Rho GTPase activating protein 44 |
| Synonyms |
AU040829 |
| MMRRC Submission |
044781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64900834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 595
(S595P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000093002]
|
| AlphaFold |
Q5SSM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047463
AA Change: S595P
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389
AA Change: S595P
| 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 |
possibly damaging
Transcript: ENSMUST00000093002
AA Change: S601P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389
AA Change: S601P
| 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: S475P
|
| SMART Domains |
Protein: ENSMUSP00000115612
Gene: ENSMUSG00000033389
AA Change: S475P
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,152,746 (GRCm39) |
W675L |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
| Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
| Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
| Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,675,256 (GRCm39) |
G1006D |
probably damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,920,289 (GRCm39) |
N109S |
probably benign |
Het |
| Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
| Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,593,377 (GRCm39) |
V150E |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
| Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
| Selenbp2 |
A |
G |
3: 94,609,821 (GRCm39) |
D257G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
| Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
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 |
|
|
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 |
|
|
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'- ATCCATCTCTGGCCTAAGAATG -3'
(R):5'- ACCAAGCTGAGAGTGGAACC -3'
Sequencing Primer
(F):5'- CATCTCTGGCCTAAGAATGGTCAG -3'
(R):5'- GGTCACCTATTTGGGACCATCATAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation