Incidental Mutation 'R9164:Arap1'
| ID |
695920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arap1
|
| Ensembl Gene |
ENSMUSG00000032812 |
| Gene Name |
ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 |
| Synonyms |
Centd2, 2410002L19Rik |
| MMRRC Submission |
068944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
100997296-101061793 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 101041090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 593
(K593*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084895]
[ENSMUST00000084896]
[ENSMUST00000098243]
[ENSMUST00000107010]
[ENSMUST00000155754]
|
| AlphaFold |
Q4LDD4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084895
AA Change: K345*
|
| SMART Domains |
Protein: ENSMUSP00000081957
Gene: ENSMUSG00000032812
AA Change: K345*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
PH
|
82 |
175 |
2.62e-17 |
SMART |
|
PH
|
195 |
285 |
3.6e-6 |
SMART |
|
ArfGap
|
289 |
415 |
2.4e-22 |
SMART |
|
PH
|
498 |
606 |
1.23e-13 |
SMART |
|
PH
|
616 |
710 |
1.08e0 |
SMART |
|
RhoGAP
|
722 |
904 |
1.35e-63 |
SMART |
|
Pfam:RA
|
926 |
1015 |
1.5e-10 |
PFAM |
|
PH
|
1029 |
1141 |
8.58e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000084896
AA Change: K593*
|
| SMART Domains |
Protein: ENSMUSP00000081958
Gene: ENSMUSG00000032812
AA Change: K593*
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
3 |
70 |
1.72e-7 |
SMART |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
PH
|
330 |
423 |
2.62e-17 |
SMART |
|
PH
|
443 |
533 |
3.6e-6 |
SMART |
|
ArfGap
|
537 |
663 |
2.4e-22 |
SMART |
|
PH
|
746 |
854 |
1.23e-13 |
SMART |
|
PH
|
864 |
958 |
1.08e0 |
SMART |
|
RhoGAP
|
970 |
1152 |
1.35e-63 |
SMART |
|
Pfam:RA
|
1174 |
1263 |
6.6e-13 |
PFAM |
|
PH
|
1277 |
1400 |
8e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098243
|
| SMART Domains |
Protein: ENSMUSP00000095844
Gene: ENSMUSG00000032812
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
32 |
140 |
1.23e-13 |
SMART |
|
PH
|
150 |
244 |
1.08e0 |
SMART |
|
RhoGAP
|
256 |
438 |
1.35e-63 |
SMART |
|
Pfam:RA
|
460 |
549 |
1.2e-11 |
PFAM |
|
PH
|
563 |
675 |
8.58e-13 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107010
AA Change: K593*
|
| SMART Domains |
Protein: ENSMUSP00000102624
Gene: ENSMUSG00000032812
AA Change: K593*
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
3 |
70 |
1.72e-7 |
SMART |
|
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
285 |
N/A |
INTRINSIC |
|
PH
|
330 |
423 |
2.62e-17 |
SMART |
|
PH
|
443 |
533 |
3.6e-6 |
SMART |
|
ArfGap
|
537 |
663 |
2.4e-22 |
SMART |
|
PH
|
746 |
854 |
1.23e-13 |
SMART |
|
PH
|
864 |
958 |
1.08e0 |
SMART |
|
RhoGAP
|
970 |
1152 |
1.35e-63 |
SMART |
|
Pfam:RA
|
1174 |
1263 |
1.9e-10 |
PFAM |
|
PH
|
1277 |
1389 |
8.58e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155754
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,278,157 (GRCm39) |
E3112D |
probably damaging |
Het |
| Abtb2 |
C |
T |
2: 103,541,829 (GRCm39) |
T847I |
possibly damaging |
Het |
| Acox1 |
A |
T |
11: 116,089,173 (GRCm39) |
H48Q |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,486,795 (GRCm39) |
I161T |
possibly damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,511,204 (GRCm39) |
Y388H |
probably damaging |
Het |
| Bicc1 |
G |
A |
10: 70,781,094 (GRCm39) |
T661M |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
A |
2: 90,831,426 (GRCm39) |
L85H |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,852,318 (GRCm39) |
M520K |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,155,960 (GRCm39) |
Y88H |
possibly damaging |
Het |
| Chd1l |
C |
T |
3: 97,501,356 (GRCm39) |
R230H |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,571 (GRCm39) |
K28* |
probably null |
Het |
| D930048N14Rik |
A |
T |
11: 51,545,609 (GRCm39) |
H167L |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,754,337 (GRCm39) |
I442N |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 84,180,308 (GRCm39) |
C1960R |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,936,324 (GRCm39) |
S2G |
unknown |
Het |
| Gm37240 |
T |
C |
3: 84,417,248 (GRCm39) |
N157S |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,283 (GRCm39) |
I350V |
unknown |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,661 (GRCm39) |
V357A |
probably benign |
Het |
| Hemgn |
T |
C |
4: 46,396,106 (GRCm39) |
I377V |
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,660,689 (GRCm39) |
D28G |
probably benign |
Het |
| Intu |
A |
T |
3: 40,645,133 (GRCm39) |
D508V |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,533,333 (GRCm39) |
M604K |
probably damaging |
Het |
| Klra6 |
T |
A |
6: 129,993,687 (GRCm39) |
I195F |
possibly damaging |
Het |
| Lhfpl6 |
G |
A |
3: 52,950,887 (GRCm39) |
V54I |
probably benign |
Het |
| Lrpap1 |
T |
C |
5: 35,262,923 (GRCm39) |
Y38C |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,562,351 (GRCm39) |
Q2453L |
unknown |
Het |
| Map1b |
C |
A |
13: 99,568,816 (GRCm39) |
E1302* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,122,410 (GRCm39) |
R159C |
probably benign |
Het |
| Mov10l1 |
C |
T |
15: 88,896,361 (GRCm39) |
T735I |
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,562,544 (GRCm39) |
R77L |
probably damaging |
Het |
| Nipsnap1 |
T |
C |
11: 4,839,969 (GRCm39) |
V230A |
probably benign |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,954 (GRCm39) |
M277K |
probably benign |
Het |
| Or7e169 |
T |
A |
9: 19,757,504 (GRCm39) |
N137I |
possibly damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,809 (GRCm39) |
L39P |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,852 (GRCm39) |
V549E |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,731,699 (GRCm39) |
S274R |
|
Het |
| Phactr1 |
A |
G |
13: 42,836,178 (GRCm39) |
D2G |
possibly damaging |
Het |
| Phtf2 |
G |
A |
5: 21,008,190 (GRCm39) |
R164* |
probably null |
Het |
| Prkcq |
A |
G |
2: 11,231,716 (GRCm39) |
D13G |
probably damaging |
Het |
| Proser1 |
A |
T |
3: 53,379,494 (GRCm39) |
N156I |
probably benign |
Het |
| Prss51 |
T |
C |
14: 64,334,958 (GRCm39) |
I171T |
probably damaging |
Het |
| Ptbp2 |
G |
A |
3: 119,546,640 (GRCm39) |
P81S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,404,222 (GRCm39) |
D681G |
possibly damaging |
Het |
| Rigi |
T |
A |
4: 40,208,827 (GRCm39) |
M762L |
probably damaging |
Het |
| Slc7a12 |
A |
T |
3: 14,564,360 (GRCm39) |
I349F |
probably damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,235,312 (GRCm39) |
T240K |
possibly damaging |
Het |
| Sowahc |
C |
A |
10: 59,057,897 (GRCm39) |
A11E |
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,216,399 (GRCm39) |
Y526F |
probably damaging |
Het |
| Stim1 |
A |
G |
7: 102,084,626 (GRCm39) |
H526R |
probably benign |
Het |
| Stx1b |
T |
C |
7: 127,414,159 (GRCm39) |
K69R |
probably benign |
Het |
| Tal1 |
T |
C |
4: 114,920,646 (GRCm39) |
S107P |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,606,975 (GRCm39) |
I273M |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,295 (GRCm39) |
Y135* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,583,856 (GRCm39) |
P22384S |
probably damaging |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,087 (GRCm39) |
T610P |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,669 (GRCm39) |
*850C |
probably null |
Het |
| Vwf |
T |
A |
6: 125,542,806 (GRCm39) |
I94N |
|
Het |
| Zan |
A |
T |
5: 137,422,333 (GRCm39) |
S2762T |
unknown |
Het |
| Zbtb20 |
A |
G |
16: 43,430,764 (GRCm39) |
Q352R |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,374 (GRCm39) |
Y1649H |
probably benign |
Het |
| Zfp397 |
A |
T |
18: 24,089,828 (GRCm39) |
Q111L |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,825 (GRCm39) |
I698N |
probably damaging |
Het |
|
| Other mutations in Arap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Arap1
|
APN |
7 |
101,037,256 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01311:Arap1
|
APN |
7 |
101,037,343 (GRCm39) |
nonsense |
probably null |
|
|
IGL01349:Arap1
|
APN |
7 |
101,036,359 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01521:Arap1
|
APN |
7 |
101,049,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01869:Arap1
|
APN |
7 |
101,049,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Arap1
|
APN |
7 |
101,037,937 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02320:Arap1
|
APN |
7 |
101,034,236 (GRCm39) |
missense |
probably benign |
|
|
IGL02478:Arap1
|
APN |
7 |
101,049,332 (GRCm39) |
splice site |
probably null |
|
|
R0133:Arap1
|
UTSW |
7 |
101,035,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0233:Arap1
|
UTSW |
7 |
101,049,448 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0233:Arap1
|
UTSW |
7 |
101,049,448 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0412:Arap1
|
UTSW |
7 |
101,039,429 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0616:Arap1
|
UTSW |
7 |
101,050,857 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0838:Arap1
|
UTSW |
7 |
101,049,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Arap1
|
UTSW |
7 |
101,034,121 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1186:Arap1
|
UTSW |
7 |
101,053,476 (GRCm39) |
splice site |
probably benign |
|
|
R1405:Arap1
|
UTSW |
7 |
101,047,643 (GRCm39) |
splice site |
probably null |
|
|
R1405:Arap1
|
UTSW |
7 |
101,047,643 (GRCm39) |
splice site |
probably null |
|
|
R1724:Arap1
|
UTSW |
7 |
101,049,733 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1793:Arap1
|
UTSW |
7 |
101,037,829 (GRCm39) |
missense |
probably benign |
|
|
R1959:Arap1
|
UTSW |
7 |
101,022,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Arap1
|
UTSW |
7 |
101,022,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Arap1
|
UTSW |
7 |
101,050,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2128:Arap1
|
UTSW |
7 |
101,058,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3737:Arap1
|
UTSW |
7 |
101,049,484 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3851:Arap1
|
UTSW |
7 |
101,039,372 (GRCm39) |
nonsense |
probably null |
|
|
R4034:Arap1
|
UTSW |
7 |
101,049,484 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4386:Arap1
|
UTSW |
7 |
101,034,778 (GRCm39) |
missense |
probably benign |
|
|
R4435:Arap1
|
UTSW |
7 |
101,039,461 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4779:Arap1
|
UTSW |
7 |
101,053,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Arap1
|
UTSW |
7 |
101,034,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4850:Arap1
|
UTSW |
7 |
101,047,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Arap1
|
UTSW |
7 |
101,051,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5253:Arap1
|
UTSW |
7 |
101,037,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5342:Arap1
|
UTSW |
7 |
101,054,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5367:Arap1
|
UTSW |
7 |
101,058,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5397:Arap1
|
UTSW |
7 |
101,034,119 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5968:Arap1
|
UTSW |
7 |
101,043,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Arap1
|
UTSW |
7 |
101,053,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Arap1
|
UTSW |
7 |
101,053,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Arap1
|
UTSW |
7 |
101,057,318 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7060:Arap1
|
UTSW |
7 |
101,058,564 (GRCm39) |
splice site |
probably null |
|
|
R7191:Arap1
|
UTSW |
7 |
101,034,199 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7323:Arap1
|
UTSW |
7 |
101,049,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Arap1
|
UTSW |
7 |
101,039,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7516:Arap1
|
UTSW |
7 |
101,058,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Arap1
|
UTSW |
7 |
101,053,621 (GRCm39) |
nonsense |
probably null |
|
|
R8034:Arap1
|
UTSW |
7 |
101,043,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Arap1
|
UTSW |
7 |
101,050,141 (GRCm39) |
missense |
probably benign |
|
|
R8493:Arap1
|
UTSW |
7 |
101,035,725 (GRCm39) |
nonsense |
probably null |
|
|
R8810:Arap1
|
UTSW |
7 |
101,053,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8811:Arap1
|
UTSW |
7 |
101,036,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8930:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8931:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8941:Arap1
|
UTSW |
7 |
101,057,324 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9014:Arap1
|
UTSW |
7 |
101,053,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Arap1
|
UTSW |
7 |
101,047,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Arap1
|
UTSW |
7 |
101,049,214 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9340:Arap1
|
UTSW |
7 |
101,037,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9519:Arap1
|
UTSW |
7 |
101,043,946 (GRCm39) |
start gained |
probably benign |
|
|
R9790:Arap1
|
UTSW |
7 |
101,037,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9791:Arap1
|
UTSW |
7 |
101,037,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCAATGTGAACAGGTTCTG -3'
(R):5'- AGGCAACCTCAGACATGGAC -3'
Sequencing Primer
(F):5'- TTCTGGACCATGCCAAAGTG -3'
(R):5'- CTCAGACATGGACGATCCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation