Incidental Mutation 'IGL02796:Rabgap1'
ID |
392003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
IGL02796 (G1)
|
Quality Score |
194 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37362318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 54
(N54K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000148470]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061179
AA Change: N54K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437 AA Change: N54K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
433 |
1.1e-38 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066055
AA Change: N54K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437 AA Change: N54K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
433 |
7.1e-39 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112920
AA Change: N54K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437 AA Change: N54K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
432 |
1.6e-35 |
PFAM |
low complexity region
|
449 |
460 |
N/A |
INTRINSIC |
low complexity region
|
473 |
481 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
TBC
|
558 |
770 |
9.27e-74 |
SMART |
Blast:TBC
|
803 |
880 |
9e-33 |
BLAST |
coiled coil region
|
986 |
1038 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133434
AA Change: N54K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121963 Gene: ENSMUSG00000035437 AA Change: N54K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
PTB
|
138 |
271 |
2.99e-30 |
SMART |
Pfam:DUF3694
|
301 |
433 |
7.2e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148470
|
SMART Domains |
Protein: ENSMUSP00000119831 Gene: ENSMUSG00000035437
Domain | Start | End | E-Value | Type |
SCOP:d1ddma_
|
68 |
148 |
2e-17 |
SMART |
Blast:PTB
|
70 |
148 |
1e-51 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153145
|
Meta Mutation Damage Score |
0.0765 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (50/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl5 |
A |
T |
19: 55,266,601 (GRCm39) |
K86* |
probably null |
Het |
Ambp |
C |
A |
4: 63,072,169 (GRCm39) |
|
probably benign |
Het |
Atp6v0d2 |
A |
T |
4: 19,887,324 (GRCm39) |
M208K |
probably damaging |
Het |
Brinp1 |
C |
G |
4: 68,680,427 (GRCm39) |
R701P |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,049,543 (GRCm39) |
L401H |
probably damaging |
Het |
Ccdc66 |
T |
C |
14: 27,208,523 (GRCm39) |
E577G |
possibly damaging |
Het |
Ccdc93 |
C |
A |
1: 121,418,895 (GRCm39) |
D483E |
probably damaging |
Het |
Cd38 |
T |
C |
5: 44,063,555 (GRCm39) |
L216P |
probably damaging |
Het |
Cdr1 |
C |
T |
X: 60,228,087 (GRCm39) |
D360N |
possibly damaging |
Het |
Cibar2 |
C |
T |
8: 120,904,138 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
T |
2: 180,255,955 (GRCm39) |
D443Y |
probably damaging |
Het |
Cpt1b |
C |
T |
15: 89,309,005 (GRCm39) |
V66I |
probably benign |
Het |
Cyp8b1 |
T |
A |
9: 121,744,564 (GRCm39) |
Y256F |
probably benign |
Het |
Dennd10 |
A |
G |
19: 60,806,081 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,757,385 (GRCm39) |
N48S |
probably benign |
Het |
Ehd3 |
T |
A |
17: 74,123,396 (GRCm39) |
L133Q |
probably damaging |
Het |
Eif6 |
C |
A |
2: 155,668,068 (GRCm39) |
R57L |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,800,576 (GRCm39) |
|
probably benign |
Het |
Fgl1 |
C |
T |
8: 41,650,095 (GRCm39) |
A229T |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gdf7 |
A |
T |
12: 8,351,666 (GRCm39) |
S90T |
unknown |
Het |
Ggta1 |
T |
C |
2: 35,303,329 (GRCm39) |
|
probably benign |
Het |
Gm44859 |
C |
T |
19: 12,014,112 (GRCm39) |
|
probably benign |
Het |
Grin2a |
T |
C |
16: 9,402,972 (GRCm39) |
E838G |
possibly damaging |
Het |
Grin2c |
A |
G |
11: 115,141,543 (GRCm39) |
|
probably benign |
Het |
Grm1 |
T |
C |
10: 10,565,411 (GRCm39) |
T966A |
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,601,186 (GRCm39) |
I468M |
possibly damaging |
Het |
Gucy1b2 |
G |
A |
14: 62,645,143 (GRCm39) |
P639S |
probably benign |
Het |
Hat1 |
T |
C |
2: 71,250,700 (GRCm39) |
|
probably null |
Het |
Hira |
A |
T |
16: 18,744,404 (GRCm39) |
I374F |
probably benign |
Het |
Htt |
C |
A |
5: 35,034,826 (GRCm39) |
Q2024K |
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,778 (GRCm39) |
M111T |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,456,811 (GRCm39) |
|
probably benign |
Het |
Lrif1 |
T |
A |
3: 106,642,752 (GRCm39) |
M619K |
probably benign |
Het |
Lrrc8b |
G |
A |
5: 105,629,211 (GRCm39) |
G519D |
probably damaging |
Het |
Map3k7 |
A |
G |
4: 31,979,692 (GRCm39) |
|
probably benign |
Het |
Or2ah1 |
T |
C |
2: 85,653,933 (GRCm39) |
I206T |
probably benign |
Het |
Or4d6 |
T |
A |
19: 12,086,248 (GRCm39) |
I221F |
possibly damaging |
Het |
P2ry12 |
T |
C |
3: 59,125,302 (GRCm39) |
I124M |
probably damaging |
Het |
Paxbp1 |
A |
G |
16: 90,822,182 (GRCm39) |
|
probably benign |
Het |
Polb |
A |
T |
8: 23,121,474 (GRCm39) |
I257N |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,295,875 (GRCm39) |
V190E |
probably benign |
Het |
Sacm1l |
T |
A |
9: 123,377,989 (GRCm39) |
W90R |
possibly damaging |
Het |
Snrpb2 |
A |
T |
2: 142,906,487 (GRCm39) |
M1L |
probably benign |
Het |
Spata31d1d |
A |
G |
13: 59,876,057 (GRCm39) |
Y493H |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,841,548 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
G |
T |
17: 51,273,652 (GRCm39) |
H123Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,608,445 (GRCm39) |
N17826S |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 89,006,593 (GRCm39) |
I143T |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,338,029 (GRCm39) |
Y268C |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,464,599 (GRCm39) |
V1586M |
probably damaging |
Het |
Zfp146 |
C |
T |
7: 29,861,983 (GRCm39) |
V20I |
probably benign |
Het |
Zfp263 |
G |
A |
16: 3,564,740 (GRCm39) |
E252K |
probably benign |
Het |
|
Other mutations in Rabgap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Rabgap1
|
APN |
2 |
37,359,558 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01456:Rabgap1
|
APN |
2 |
37,431,187 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01599:Rabgap1
|
APN |
2 |
37,446,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01834:Rabgap1
|
APN |
2 |
37,454,773 (GRCm39) |
intron |
probably benign |
|
IGL01940:Rabgap1
|
APN |
2 |
37,377,079 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02416:Rabgap1
|
APN |
2 |
37,451,962 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02683:Rabgap1
|
APN |
2 |
37,392,951 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02755:Rabgap1
|
APN |
2 |
37,427,326 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02999:Rabgap1
|
APN |
2 |
37,373,838 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL03144:Rabgap1
|
APN |
2 |
37,430,544 (GRCm39) |
missense |
probably damaging |
0.99 |
Dread
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
Evanescence
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
foreboding
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
Temporality
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R0117:Rabgap1
|
UTSW |
2 |
37,451,897 (GRCm39) |
splice site |
probably null |
|
R0455:Rabgap1
|
UTSW |
2 |
37,377,132 (GRCm39) |
missense |
probably damaging |
1.00 |
R0569:Rabgap1
|
UTSW |
2 |
37,379,729 (GRCm39) |
intron |
probably benign |
|
R0586:Rabgap1
|
UTSW |
2 |
37,433,235 (GRCm39) |
missense |
probably benign |
|
R0962:Rabgap1
|
UTSW |
2 |
37,450,481 (GRCm39) |
intron |
probably benign |
|
R1055:Rabgap1
|
UTSW |
2 |
37,382,080 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1086:Rabgap1
|
UTSW |
2 |
37,359,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R1251:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
R1598:Rabgap1
|
UTSW |
2 |
37,451,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Rabgap1
|
UTSW |
2 |
37,385,771 (GRCm39) |
critical splice donor site |
probably null |
|
R1957:Rabgap1
|
UTSW |
2 |
37,373,774 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2134:Rabgap1
|
UTSW |
2 |
37,453,499 (GRCm39) |
nonsense |
probably null |
|
R2154:Rabgap1
|
UTSW |
2 |
37,365,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R4328:Rabgap1
|
UTSW |
2 |
37,422,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R4351:Rabgap1
|
UTSW |
2 |
37,373,794 (GRCm39) |
missense |
probably benign |
|
R4658:Rabgap1
|
UTSW |
2 |
37,377,561 (GRCm39) |
nonsense |
probably null |
|
R4821:Rabgap1
|
UTSW |
2 |
37,422,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4897:Rabgap1
|
UTSW |
2 |
37,450,583 (GRCm39) |
missense |
probably benign |
0.01 |
R5014:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5252:Rabgap1
|
UTSW |
2 |
37,365,369 (GRCm39) |
missense |
probably benign |
0.11 |
R5392:Rabgap1
|
UTSW |
2 |
37,359,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R5794:Rabgap1
|
UTSW |
2 |
37,392,914 (GRCm39) |
missense |
probably benign |
0.03 |
R5941:Rabgap1
|
UTSW |
2 |
37,451,908 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6002:Rabgap1
|
UTSW |
2 |
37,363,614 (GRCm39) |
missense |
probably benign |
0.05 |
R6209:Rabgap1
|
UTSW |
2 |
37,453,610 (GRCm39) |
nonsense |
probably null |
|
R6317:Rabgap1
|
UTSW |
2 |
37,432,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7011:Rabgap1
|
UTSW |
2 |
37,430,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Rabgap1
|
UTSW |
2 |
37,450,575 (GRCm39) |
missense |
probably benign |
0.08 |
R7514:Rabgap1
|
UTSW |
2 |
37,427,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R7543:Rabgap1
|
UTSW |
2 |
37,359,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R7599:Rabgap1
|
UTSW |
2 |
37,392,908 (GRCm39) |
frame shift |
probably null |
|
R7709:Rabgap1
|
UTSW |
2 |
37,427,339 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7784:Rabgap1
|
UTSW |
2 |
37,377,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7816:Rabgap1
|
UTSW |
2 |
37,453,476 (GRCm39) |
missense |
probably benign |
0.01 |
R7834:Rabgap1
|
UTSW |
2 |
37,359,419 (GRCm39) |
intron |
probably benign |
|
R7869:Rabgap1
|
UTSW |
2 |
37,377,142 (GRCm39) |
missense |
probably benign |
0.31 |
R7888:Rabgap1
|
UTSW |
2 |
37,427,319 (GRCm39) |
nonsense |
probably null |
|
R7949:Rabgap1
|
UTSW |
2 |
37,453,491 (GRCm39) |
missense |
probably benign |
0.44 |
R8084:Rabgap1
|
UTSW |
2 |
37,427,317 (GRCm39) |
missense |
probably damaging |
1.00 |
R8333:Rabgap1
|
UTSW |
2 |
37,385,710 (GRCm39) |
missense |
probably benign |
|
R8440:Rabgap1
|
UTSW |
2 |
37,432,692 (GRCm39) |
critical splice donor site |
probably null |
|
R9210:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R9212:Rabgap1
|
UTSW |
2 |
37,377,152 (GRCm39) |
missense |
probably damaging |
0.96 |
R9574:Rabgap1
|
UTSW |
2 |
37,433,246 (GRCm39) |
splice site |
probably null |
|
Z1176:Rabgap1
|
UTSW |
2 |
37,450,556 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Rabgap1
|
UTSW |
2 |
37,359,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCACTTTGAAGACCCATTTGTATC -3'
(R):5'- TTTCGGAAGCCCTACCAGAG -3'
Sequencing Primer
(F):5'- TGTTGCTATGTTACCTATTTCTGAAC -3'
(R):5'- CCTACCAGAGGCACAGGATTAATG -3'
|
Posted On |
2016-06-08 |