Incidental Mutation 'R5507:Rabgap1l'
| ID |
430954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rabgap1l
|
| Ensembl Gene |
ENSMUSG00000026721 |
| Gene Name |
RAB GTPase activating protein 1-like |
| Synonyms |
5830411O09Rik, 9630005B12Rik, Hh1, 8430421H08Rik |
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160178898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 21
(S21P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000028052]
[ENSMUST00000191651]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
PTB
|
127 |
260 |
4.47e-20 |
SMART |
|
Pfam:DUF3694
|
290 |
421 |
8.1e-41 |
PFAM |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
TBC
|
535 |
747 |
5.13e-67 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028052
AA Change: S21P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
AA Change: S21P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TBC
|
54 |
100 |
8e-16 |
BLAST |
|
PDB:3HZJ|C
|
54 |
130 |
9e-35 |
PDB |
|
Blast:TBC
|
113 |
176 |
2e-24 |
BLAST |
|
low complexity region
|
188 |
200 |
N/A |
INTRINSIC |
|
coiled coil region
|
281 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191651
|
| SMART Domains |
Protein: ENSMUSP00000141357
Gene: ENSMUSG00000026721
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3HZJ|C
|
1 |
107 |
1e-71 |
PDB |
|
SCOP:d1fkma2
|
1 |
107 |
1e-9 |
SMART |
|
Blast:TBC
|
13 |
89 |
2e-32 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194105
|
| Meta Mutation Damage Score |
0.0983 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion are viable, fertile and overtly normal with no alterations in hematopoietic progenitor cell numbers or types. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Nvl |
A |
G |
1: 180,962,601 (GRCm39) |
L123P |
probably damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
probably benign |
Het |
|
| Other mutations in Rabgap1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Rabgap1l
|
APN |
1 |
160,566,539 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01309:Rabgap1l
|
APN |
1 |
160,528,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01448:Rabgap1l
|
APN |
1 |
160,568,315 (GRCm39) |
splice site |
probably benign |
|
|
IGL01886:Rabgap1l
|
APN |
1 |
160,169,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02010:Rabgap1l
|
APN |
1 |
160,299,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02079:Rabgap1l
|
APN |
1 |
160,566,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02800:Rabgap1l
|
APN |
1 |
160,299,623 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03343:Rabgap1l
|
APN |
1 |
160,270,853 (GRCm39) |
missense |
probably benign |
|
|
IGL03388:Rabgap1l
|
APN |
1 |
160,561,093 (GRCm39) |
splice site |
probably null |
|
|
IGL03406:Rabgap1l
|
APN |
1 |
160,549,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
amerigo
|
UTSW |
1 |
160,551,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hispaniola
|
UTSW |
1 |
160,472,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0047:Rabgap1l
|
UTSW |
1 |
160,059,359 (GRCm39) |
splice site |
probably benign |
|
|
R0047:Rabgap1l
|
UTSW |
1 |
160,059,359 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Rabgap1l
|
UTSW |
1 |
160,454,939 (GRCm39) |
splice site |
probably benign |
|
|
R0099:Rabgap1l
|
UTSW |
1 |
160,509,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0201:Rabgap1l
|
UTSW |
1 |
160,281,315 (GRCm39) |
splice site |
probably benign |
|
|
R0432:Rabgap1l
|
UTSW |
1 |
160,549,775 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1104:Rabgap1l
|
UTSW |
1 |
160,059,445 (GRCm39) |
splice site |
probably benign |
|
|
R1220:Rabgap1l
|
UTSW |
1 |
160,566,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Rabgap1l
|
UTSW |
1 |
160,561,250 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1569:Rabgap1l
|
UTSW |
1 |
160,529,960 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1907:Rabgap1l
|
UTSW |
1 |
160,472,880 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2128:Rabgap1l
|
UTSW |
1 |
160,566,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2129:Rabgap1l
|
UTSW |
1 |
160,566,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2177:Rabgap1l
|
UTSW |
1 |
160,551,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4636:Rabgap1l
|
UTSW |
1 |
160,169,660 (GRCm39) |
splice site |
probably null |
|
|
R4722:Rabgap1l
|
UTSW |
1 |
160,169,734 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4743:Rabgap1l
|
UTSW |
1 |
160,281,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Rabgap1l
|
UTSW |
1 |
160,066,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Rabgap1l
|
UTSW |
1 |
160,269,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5035:Rabgap1l
|
UTSW |
1 |
160,551,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Rabgap1l
|
UTSW |
1 |
160,549,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5437:Rabgap1l
|
UTSW |
1 |
160,549,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Rabgap1l
|
UTSW |
1 |
160,066,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5691:Rabgap1l
|
UTSW |
1 |
160,563,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5837:Rabgap1l
|
UTSW |
1 |
160,134,792 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5881:Rabgap1l
|
UTSW |
1 |
160,169,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Rabgap1l
|
UTSW |
1 |
160,472,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6243:Rabgap1l
|
UTSW |
1 |
160,472,877 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6294:Rabgap1l
|
UTSW |
1 |
160,059,419 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6452:Rabgap1l
|
UTSW |
1 |
160,281,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Rabgap1l
|
UTSW |
1 |
160,561,250 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6945:Rabgap1l
|
UTSW |
1 |
160,509,752 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7014:Rabgap1l
|
UTSW |
1 |
160,169,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7062:Rabgap1l
|
UTSW |
1 |
160,054,220 (GRCm39) |
missense |
probably benign |
|
|
R7089:Rabgap1l
|
UTSW |
1 |
160,551,742 (GRCm39) |
nonsense |
probably null |
|
|
R7170:Rabgap1l
|
UTSW |
1 |
160,472,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7172:Rabgap1l
|
UTSW |
1 |
160,561,156 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7303:Rabgap1l
|
UTSW |
1 |
160,509,667 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7357:Rabgap1l
|
UTSW |
1 |
160,169,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Rabgap1l
|
UTSW |
1 |
160,054,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7501:Rabgap1l
|
UTSW |
1 |
160,528,358 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7565:Rabgap1l
|
UTSW |
1 |
160,078,987 (GRCm39) |
missense |
|
|
|
R7582:Rabgap1l
|
UTSW |
1 |
160,509,654 (GRCm39) |
missense |
probably benign |
|
|
R7740:Rabgap1l
|
UTSW |
1 |
160,509,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7978:Rabgap1l
|
UTSW |
1 |
160,078,838 (GRCm39) |
missense |
|
|
|
R7993:Rabgap1l
|
UTSW |
1 |
160,528,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Rabgap1l
|
UTSW |
1 |
160,530,012 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8672:Rabgap1l
|
UTSW |
1 |
160,270,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Rabgap1l
|
UTSW |
1 |
160,085,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Rabgap1l
|
UTSW |
1 |
160,528,443 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9286:Rabgap1l
|
UTSW |
1 |
160,051,818 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Rabgap1l
|
UTSW |
1 |
160,566,643 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTCCTTCTCAGTAGAAAGG -3'
(R):5'- GCTGACAGTTCCCATCCTAG -3'
Sequencing Primer
(F):5'- TCCTTCTCAGTAGAAAGGGTTGAAAG -3'
(R):5'- GACAGTTCCCATCCTAGACCATTTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation