Incidental Mutation 'R0455:Rabgap1'
| ID |
39944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
038655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R0455 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37377132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 321
(D321E)
|
| 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: D321E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
AA Change: D321E
| 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: D321E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
AA Change: D321E
| 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: D321E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
AA Change: D321E
| 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 |
probably damaging
Transcript: ENSMUST00000133434
AA Change: D321E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121963
Gene: ENSMUSG00000035437
AA Change: D321E
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205186
|
| Meta Mutation Damage Score |
0.0612 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,088,180 (GRCm39) |
G342D |
possibly damaging |
Het |
| Acvr2b |
C |
T |
9: 119,261,675 (GRCm39) |
R399W |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 77,982,832 (GRCm39) |
|
probably benign |
Het |
| Atf6 |
A |
G |
1: 170,662,492 (GRCm39) |
V256A |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,656,454 (GRCm39) |
I732N |
probably damaging |
Het |
| C1qtnf9 |
A |
C |
14: 61,009,820 (GRCm39) |
Q25H |
probably damaging |
Het |
| Ccdc6 |
T |
A |
10: 69,978,401 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
| Chdh |
A |
G |
14: 29,756,603 (GRCm39) |
Y343C |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,421,262 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,716,024 (GRCm39) |
|
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,541,802 (GRCm39) |
D362E |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,529,082 (GRCm39) |
S273T |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,117,649 (GRCm39) |
H1274L |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,672,986 (GRCm39) |
S187P |
probably benign |
Het |
| Fam13b |
G |
A |
18: 34,578,581 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,168,408 (GRCm39) |
G2310S |
probably damaging |
Het |
| Fcna |
T |
C |
2: 25,515,520 (GRCm39) |
Y183C |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,491,056 (GRCm39) |
T263A |
probably benign |
Het |
| Gm94 |
T |
C |
18: 43,914,309 (GRCm39) |
D83G |
possibly damaging |
Het |
| Gnal |
C |
T |
18: 67,268,720 (GRCm39) |
|
probably benign |
Het |
| Grb7 |
T |
G |
11: 98,343,014 (GRCm39) |
S244A |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,477 (GRCm39) |
T458A |
probably benign |
Het |
| Hdac2 |
C |
T |
10: 36,867,832 (GRCm39) |
R193C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,573,638 (GRCm39) |
|
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,072 (GRCm39) |
R783G |
probably benign |
Het |
| Inpp5j |
G |
T |
11: 3,453,122 (GRCm39) |
L43I |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,604,243 (GRCm39) |
T44S |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,665,036 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,297,822 (GRCm39) |
C233* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,025,700 (GRCm39) |
L1130P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,807,250 (GRCm39) |
F508L |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,916,425 (GRCm39) |
V814E |
probably benign |
Het |
| Megf10 |
C |
T |
18: 57,386,054 (GRCm39) |
P356S |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,499,538 (GRCm39) |
R31* |
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Nus1 |
T |
A |
10: 52,306,190 (GRCm39) |
V42E |
probably damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,359 (GRCm39) |
I128V |
possibly damaging |
Het |
| Or2a51 |
A |
C |
6: 43,179,006 (GRCm39) |
M143L |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,523,024 (GRCm39) |
N306S |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,605,949 (GRCm39) |
S94G |
probably benign |
Het |
| Ppm1h |
G |
T |
10: 122,638,229 (GRCm39) |
Q166H |
probably benign |
Het |
| Ptafr |
A |
T |
4: 132,307,396 (GRCm39) |
Y262F |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,742,113 (GRCm39) |
|
noncoding transcript |
Het |
| Scarb1 |
T |
C |
5: 125,366,745 (GRCm39) |
N63D |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,379,340 (GRCm39) |
I249T |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,277 (GRCm39) |
K490R |
probably benign |
Het |
| Sycn |
A |
G |
7: 28,240,398 (GRCm39) |
N22D |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 127,167,612 (GRCm39) |
A1067T |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,405,131 (GRCm39) |
D681G |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,396,741 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,085 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,528 (GRCm39) |
M653K |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly damaging |
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 |
|
|
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'- TGGCTAGGCAATAAGAAATTGGTCACAT -3'
(R):5'- AGTGCATATCACTGTTTCGGACATCTTT -3'
Sequencing Primer
(F):5'- AATTGGTCACATTTTTTTCATCCTG -3'
(R):5'- AAGTGTATGACTACTCTACTAGACAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation