Incidental Mutation 'R1055:Rabgap1'
ID |
94248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rabgap1
|
Ensembl Gene |
ENSMUSG00000035437 |
Gene Name |
RAB GTPase activating protein 1 |
Synonyms |
Gapcena |
MMRRC Submission |
039145-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.239)
|
Stock # |
R1055 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37382080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 450
(K450E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000133434]
[ENSMUST00000183690]
|
AlphaFold |
A2AWA9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061179
AA Change: K450E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000061624 Gene: ENSMUSG00000035437 AA Change: K450E
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 benign
Transcript: ENSMUST00000066055
AA Change: K450E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000068835 Gene: ENSMUSG00000035437 AA Change: K450E
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 benign
Transcript: ENSMUST00000112920
AA Change: K450E
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000108542 Gene: ENSMUSG00000035437 AA Change: K450E
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 |
noncoding transcript
Transcript: ENSMUST00000130601
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133434
AA Change: K450E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121963 Gene: ENSMUSG00000035437 AA Change: K450E
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 |
noncoding transcript
Transcript: ENSMUST00000153145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203017
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205186
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183690
|
SMART Domains |
Protein: ENSMUSP00000139145 Gene: ENSMUSG00000026915
Domain | Start | End | E-Value | Type |
DZF
|
81 |
334 |
2.45e-168 |
SMART |
DSRM
|
388 |
452 |
3.11e-16 |
SMART |
low complexity region
|
474 |
497 |
N/A |
INTRINSIC |
DSRM
|
511 |
575 |
1.2e-22 |
SMART |
low complexity region
|
578 |
593 |
N/A |
INTRINSIC |
low complexity region
|
608 |
618 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0970 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.3%
- 20x: 87.5%
|
Validation Efficiency |
100% (58/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
G |
14: 64,210,724 (GRCm39) |
V168A |
possibly damaging |
Het |
A1cf |
C |
A |
19: 31,909,919 (GRCm39) |
T237N |
probably benign |
Het |
Actl10 |
A |
T |
2: 154,394,588 (GRCm39) |
Q180L |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,059,075 (GRCm39) |
L327P |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,044,685 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
G |
A |
1: 179,591,051 (GRCm39) |
T1243I |
possibly damaging |
Het |
Akap6 |
C |
T |
12: 52,927,455 (GRCm39) |
Q122* |
probably null |
Het |
Apob |
G |
A |
12: 8,044,963 (GRCm39) |
G861D |
probably damaging |
Het |
Arhgef11 |
A |
C |
3: 87,624,425 (GRCm39) |
T539P |
probably benign |
Het |
Cd244a |
T |
A |
1: 171,404,844 (GRCm39) |
V232E |
probably damaging |
Het |
Chia1 |
A |
C |
3: 106,038,199 (GRCm39) |
D365A |
probably damaging |
Het |
Clpsl2 |
C |
T |
17: 28,768,500 (GRCm39) |
Q5* |
probably null |
Het |
Clrn1 |
T |
A |
3: 58,772,531 (GRCm39) |
I117F |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,744,933 (GRCm39) |
L1354P |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,596 (GRCm39) |
P144S |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,286,593 (GRCm39) |
M172K |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 66,050,837 (GRCm39) |
W152R |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,922,864 (GRCm39) |
S82T |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,523,602 (GRCm39) |
K146E |
probably damaging |
Het |
Gfpt2 |
A |
C |
11: 49,718,038 (GRCm39) |
R504S |
probably damaging |
Het |
Gpank1 |
T |
A |
17: 35,343,284 (GRCm39) |
S255T |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,732,252 (GRCm39) |
M1570V |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,292,478 (GRCm39) |
I403K |
probably damaging |
Het |
Hoxc11 |
T |
A |
15: 102,863,270 (GRCm39) |
C104S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ilrun |
T |
C |
17: 27,986,910 (GRCm39) |
N272S |
probably damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,683,238 (GRCm39) |
|
probably benign |
Het |
Lix1l |
G |
T |
3: 96,528,626 (GRCm39) |
G200V |
probably damaging |
Het |
Lrrc23 |
T |
C |
6: 124,755,114 (GRCm39) |
N141S |
probably damaging |
Het |
Marchf11 |
A |
T |
15: 26,309,748 (GRCm39) |
D134V |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,762,653 (GRCm39) |
T795S |
probably benign |
Het |
Nhsl1 |
T |
A |
10: 18,401,223 (GRCm39) |
D782E |
probably benign |
Het |
Nptxr |
T |
C |
15: 79,674,456 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
A |
G |
8: 129,195,079 (GRCm39) |
M512V |
possibly damaging |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or12e7 |
ATTGCTACTC |
A |
2: 87,287,781 (GRCm39) |
|
probably benign |
Het |
Or5b3 |
G |
A |
19: 13,388,754 (GRCm39) |
A274T |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,104,761 (GRCm39) |
F267S |
probably benign |
Het |
Pomt2 |
G |
A |
12: 87,194,254 (GRCm39) |
T50M |
possibly damaging |
Het |
Qsox2 |
A |
G |
2: 26,104,137 (GRCm39) |
Y298H |
probably damaging |
Het |
Rpa1 |
A |
T |
11: 75,193,558 (GRCm39) |
V591D |
probably damaging |
Het |
Sall3 |
A |
C |
18: 81,013,007 (GRCm39) |
M1143R |
probably benign |
Het |
Scgb1b19 |
G |
T |
7: 32,986,768 (GRCm39) |
A13S |
unknown |
Het |
Scn1a |
T |
C |
2: 66,168,340 (GRCm39) |
T89A |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sdr42e1 |
T |
G |
8: 118,390,323 (GRCm39) |
N106T |
probably damaging |
Het |
Shpk |
A |
T |
11: 73,105,945 (GRCm39) |
M266L |
probably benign |
Het |
Slc34a1 |
G |
T |
13: 55,550,846 (GRCm39) |
R139L |
probably benign |
Het |
Smbd1 |
C |
A |
16: 32,627,088 (GRCm39) |
D67Y |
probably damaging |
Het |
Srd5a3 |
A |
G |
5: 76,301,485 (GRCm39) |
N238S |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,377,462 (GRCm39) |
N212D |
probably damaging |
Het |
Uap1 |
G |
T |
1: 169,984,480 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
A |
G |
1: 88,066,736 (GRCm39) |
M181V |
probably benign |
Het |
Vmn2r32 |
C |
T |
7: 7,477,326 (GRCm39) |
W355* |
probably null |
Het |
Vmn2r86 |
T |
A |
10: 130,282,226 (GRCm39) |
S797C |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,606,616 (GRCm39) |
S40P |
probably damaging |
Het |
Zfand6 |
A |
G |
7: 84,265,181 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
G |
A |
9: 72,236,449 (GRCm39) |
|
probably null |
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 |
IGL02796:Rabgap1
|
UTSW |
2 |
37,362,318 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- AAAGCTGACTCAGAGACTTACAGTACCT -3'
(R):5'- TGCTCAACTGTGTCAAAGAAAATCTGC -3'
Sequencing Primer
(F):5'- GCAGACCTTCTGACTATACATTTTC -3'
(R):5'- ggctggagagatggcttg -3'
|
Posted On |
2014-01-05 |