Incidental Mutation 'R6001:Arhgap44'
ID |
480843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap44
|
Ensembl Gene |
ENSMUSG00000033389 |
Gene Name |
Rho GTPase activating protein 44 |
Synonyms |
AU040829 |
MMRRC Submission |
044180-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6001 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
64892865-65053779 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CTGCT to CTGCTTGCT
at 64922910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047463]
[ENSMUST00000093002]
|
AlphaFold |
Q5SSM3 |
Predicted Effect |
probably null
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 null
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: ENSMUST00000119723
|
Predicted Effect |
probably null
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
G |
T |
4: 53,075,555 (GRCm39) |
R999S |
possibly damaging |
Het |
Ankrd31 |
T |
A |
13: 96,962,717 (GRCm39) |
Y503N |
probably damaging |
Het |
Anks4b |
A |
G |
7: 119,781,941 (GRCm39) |
E324G |
probably benign |
Het |
Atl1 |
A |
T |
12: 69,979,057 (GRCm39) |
T162S |
possibly damaging |
Het |
Atp2b2 |
A |
G |
6: 113,770,728 (GRCm39) |
Y394H |
probably damaging |
Het |
Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
Dhx16 |
G |
T |
17: 36,194,766 (GRCm39) |
M462I |
probably damaging |
Het |
Hif3a |
T |
C |
7: 16,784,486 (GRCm39) |
Y253C |
probably damaging |
Het |
Hsf4 |
G |
A |
8: 105,999,541 (GRCm39) |
G277R |
possibly damaging |
Het |
Impg1 |
T |
C |
9: 80,223,454 (GRCm39) |
D754G |
probably benign |
Het |
Keap1 |
T |
C |
9: 21,142,135 (GRCm39) |
S580G |
possibly damaging |
Het |
Lrp6 |
T |
C |
6: 134,441,481 (GRCm39) |
K1162E |
probably benign |
Het |
Lrrc31 |
C |
T |
3: 30,745,318 (GRCm39) |
V110I |
possibly damaging |
Het |
Muc5b |
G |
T |
7: 141,426,118 (GRCm39) |
K4738N |
possibly damaging |
Het |
Myo1a |
G |
T |
10: 127,542,794 (GRCm39) |
|
probably null |
Het |
Odad2 |
T |
C |
18: 7,286,838 (GRCm39) |
D131G |
probably benign |
Het |
Or10q1b |
A |
G |
19: 13,682,424 (GRCm39) |
T78A |
probably damaging |
Het |
Or52z14 |
T |
A |
7: 103,253,179 (GRCm39) |
M106K |
probably damaging |
Het |
Or7g19 |
A |
T |
9: 18,856,340 (GRCm39) |
Y132F |
probably damaging |
Het |
Parp4 |
A |
T |
14: 56,878,740 (GRCm39) |
H1225L |
probably benign |
Het |
Pcgf2 |
T |
C |
11: 97,583,606 (GRCm39) |
Y52C |
possibly damaging |
Het |
Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
Psen2 |
C |
A |
1: 180,073,234 (GRCm39) |
R29L |
possibly damaging |
Het |
Rfx6 |
A |
G |
10: 51,594,307 (GRCm39) |
|
probably null |
Het |
Rps13 |
T |
C |
7: 115,930,808 (GRCm39) |
T145A |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
ACGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Smarca4 |
C |
T |
9: 21,544,205 (GRCm39) |
|
probably benign |
Het |
Stat4 |
A |
T |
1: 52,136,026 (GRCm39) |
E445V |
probably damaging |
Het |
Taf13 |
T |
A |
3: 108,488,387 (GRCm39) |
I90N |
probably damaging |
Het |
Tas2r124 |
T |
A |
6: 132,732,416 (GRCm39) |
Y242N |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
Wasl |
T |
C |
6: 24,619,573 (GRCm39) |
T316A |
unknown |
Het |
Zbtb44 |
T |
C |
9: 30,965,090 (GRCm39) |
C167R |
probably damaging |
Het |
Zc3h7b |
T |
C |
15: 81,676,236 (GRCm39) |
L714P |
possibly damaging |
Het |
Zfp35 |
T |
A |
18: 24,135,816 (GRCm39) |
H53Q |
probably benign |
Het |
Zfp804b |
A |
G |
5: 6,819,043 (GRCm39) |
V1340A |
probably benign |
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 |
|
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'- TCACATCACCTTGCCATTGG -3'
(R):5'- GCATTAGTGAAGTCCTGGAGG -3'
Sequencing Primer
(F):5'- GCCATTGGCTAGCTGTACAG -3'
(R):5'- AGGAGCAGGTAGACTTCCTATTC -3'
|
Posted On |
2017-06-26 |