Incidental Mutation 'R7599:Rabgap1'
| ID |
587876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1
|
| Ensembl Gene |
ENSMUSG00000035437 |
| Gene Name |
RAB GTPase activating protein 1 |
| Synonyms |
Gapcena |
| MMRRC Submission |
045673-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R7599 (G1)
|
| Quality Score |
102.467 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37333291-37456466 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TGGGG to TGGG
at 37392908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061179]
[ENSMUST00000066055]
[ENSMUST00000112920]
[ENSMUST00000183690]
|
| AlphaFold |
A2AWA9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061179
|
| SMART Domains |
Protein: ENSMUSP00000061624
Gene: ENSMUSG00000035437
| 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 null
Transcript: ENSMUST00000066055
|
| SMART Domains |
Protein: ENSMUSP00000068835
Gene: ENSMUSG00000035437
| 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 null
Transcript: ENSMUST00000112920
|
| SMART Domains |
Protein: ENSMUSP00000108542
Gene: ENSMUSG00000035437
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 90,009,256 (GRCm39) |
S136G |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,108,180 (GRCm39) |
N445K |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,501,652 (GRCm39) |
K237E |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,391,169 (GRCm39) |
T1229A |
probably benign |
Het |
| Bpifb1 |
T |
C |
2: 154,056,071 (GRCm39) |
I379T |
probably damaging |
Het |
| Bpnt2 |
G |
A |
4: 4,778,207 (GRCm39) |
T177I |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,047,530 (GRCm39) |
D7G |
probably damaging |
Het |
| Cyp2f2 |
T |
A |
7: 26,830,784 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
A |
17: 49,787,755 (GRCm39) |
K453* |
probably null |
Het |
| Dennd4c |
T |
C |
4: 86,729,849 (GRCm39) |
L817P |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,755,189 (GRCm39) |
R1376W |
probably damaging |
Het |
| Esrra |
G |
T |
19: 6,891,214 (GRCm39) |
A182E |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,203,874 (GRCm39) |
V392E |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,997,999 (GRCm39) |
V1229A |
probably benign |
Het |
| Fdps |
G |
T |
3: 89,006,693 (GRCm39) |
Q66K |
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,499,438 (GRCm39) |
D1269E |
probably benign |
Het |
| Foxred1 |
G |
A |
9: 35,116,932 (GRCm39) |
R353W |
probably damaging |
Het |
| Gabrg2 |
C |
T |
11: 41,858,451 (GRCm39) |
V226I |
possibly damaging |
Het |
| Gcnt2 |
C |
A |
13: 41,014,343 (GRCm39) |
C171* |
probably null |
Het |
| Glyat |
C |
A |
19: 12,617,172 (GRCm39) |
A8E |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,695,758 (GRCm39) |
R86S |
unknown |
Het |
| Hc |
T |
A |
2: 34,940,431 (GRCm39) |
T136S |
probably damaging |
Het |
| Hdac1 |
G |
T |
4: 129,411,259 (GRCm39) |
S421* |
probably null |
Het |
| Hmcn2 |
G |
T |
2: 31,246,298 (GRCm39) |
A756S |
possibly damaging |
Het |
| Igkv8-26 |
A |
G |
6: 70,170,571 (GRCm39) |
N54S |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,012,786 (GRCm39) |
V706E |
possibly damaging |
Het |
| Itgax |
G |
A |
7: 127,747,262 (GRCm39) |
V992M |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,433,851 (GRCm39) |
D221G |
probably benign |
Het |
| Klkb1 |
T |
C |
8: 45,731,150 (GRCm39) |
I205V |
probably benign |
Het |
| Kpna2 |
T |
C |
11: 106,889,583 (GRCm39) |
N8S |
probably null |
Het |
| L3mbtl1 |
A |
C |
2: 162,806,434 (GRCm39) |
T442P |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,551,561 (GRCm39) |
C4181Y |
|
Het |
| Mcat |
T |
C |
15: 83,431,872 (GRCm39) |
Y332C |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,010,534 (GRCm39) |
D648G |
probably damaging |
Het |
| Mesp2 |
A |
T |
7: 79,460,717 (GRCm39) |
D14V |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,314,973 (GRCm39) |
Y404* |
probably null |
Het |
| Mterf3 |
A |
T |
13: 67,065,212 (GRCm39) |
F230I |
probably damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,478,832 (GRCm39) |
V602A |
probably benign |
Het |
| Or4a74 |
T |
A |
2: 89,439,571 (GRCm39) |
I292F |
possibly damaging |
Het |
| Plekhg6 |
A |
G |
6: 125,351,623 (GRCm39) |
F209L |
probably damaging |
Het |
| Pmp22 |
C |
A |
11: 63,049,174 (GRCm39) |
A139D |
probably damaging |
Het |
| Polr2e |
T |
C |
10: 79,874,404 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ppard |
T |
A |
17: 28,516,091 (GRCm39) |
L105H |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,582,942 (GRCm39) |
D596E |
probably benign |
Het |
| Ptprz1 |
C |
T |
6: 23,002,518 (GRCm39) |
A1536V |
not run |
Het |
| Qng1 |
T |
A |
13: 58,529,649 (GRCm39) |
H321L |
probably damaging |
Het |
| Retreg1 |
T |
A |
15: 25,971,727 (GRCm39) |
D222E |
probably benign |
Het |
| Rmnd1 |
T |
C |
10: 4,363,404 (GRCm39) |
K282R |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
C |
T |
18: 81,015,267 (GRCm39) |
R887H |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,139,711 (GRCm39) |
D281G |
probably benign |
Het |
| Scube1 |
T |
A |
15: 83,497,653 (GRCm39) |
D766V |
probably damaging |
Het |
| Sec24b |
TGC |
TGCAGC |
3: 129,834,460 (GRCm39) |
|
probably benign |
Het |
| Slc2a2 |
A |
G |
3: 28,752,166 (GRCm39) |
M1V |
probably null |
Het |
| Slc39a2 |
A |
T |
14: 52,132,488 (GRCm39) |
T144S |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,734,937 (GRCm39) |
H619R |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,113,048 (GRCm39) |
F427L |
probably benign |
Het |
| Snapc3 |
C |
A |
4: 83,336,073 (GRCm39) |
Y28* |
probably null |
Het |
| St3gal6 |
C |
T |
16: 58,293,800 (GRCm39) |
R243H |
probably benign |
Het |
| Stat2 |
T |
A |
10: 128,113,066 (GRCm39) |
N119K |
possibly damaging |
Het |
| Syne2 |
G |
C |
12: 76,013,145 (GRCm39) |
V2779L |
probably benign |
Het |
| Tacc1 |
T |
A |
8: 25,691,301 (GRCm39) |
M1L |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,027,929 (GRCm39) |
F724L |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,533,766 (GRCm39) |
I259T |
possibly damaging |
Het |
| Ucn2 |
T |
C |
9: 108,815,292 (GRCm39) |
I18T |
probably benign |
Het |
| Wdr35 |
G |
C |
12: 9,074,886 (GRCm39) |
A1000P |
probably benign |
Het |
| Wnk1 |
C |
A |
6: 119,906,789 (GRCm39) |
C244F |
possibly damaging |
Het |
| Zeb2 |
T |
G |
2: 44,884,625 (GRCm39) |
D1022A |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,349,129 (GRCm39) |
H478Q |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,630 (GRCm39) |
K265R |
probably benign |
Het |
| Zfp575 |
T |
C |
7: 24,286,093 (GRCm39) |
D21G |
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 |
|
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 |
|
|
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 |
|
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'- CACGTTCCTTTACTAGACTCTTGGG -3'
(R):5'- TCCTGAGTGAGATCTTATTTGCAG -3'
Sequencing Primer
(F):5'- GTGACATGGTTTTGAACATAAAACTG -3'
(R):5'- GCAGATCTCTGTTATTGGTTCCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation