Incidental Mutation 'R6802:Rabgap1l'
| ID |
533365 |
| 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 |
044915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160561250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 161
(V161E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000193810]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
AA Change: V189E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: V189E
| 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 |
probably benign
Transcript: ENSMUST00000193810
|
| SMART Domains |
Protein: ENSMUSP00000141749
Gene: ENSMUSG00000026721
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
Blast:PTB
|
127 |
147 |
6e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195442
AA Change: V161E
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: V161E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
96 |
N/A |
INTRINSIC |
|
PTB
|
99 |
232 |
4.47e-20 |
SMART |
|
Pfam:DUF3694
|
262 |
394 |
1.4e-42 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
| Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
| Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
| Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
| Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
| Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
| Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
| Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
| Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
| Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
| Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
| Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
| Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
| Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
| Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
| Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
| Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
| Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
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 |
|
R5507:Rabgap1l
|
UTSW |
1 |
160,178,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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'- TGCTGCATTGTATGATACTTACTGC -3'
(R):5'- TGGCTCCTAGGAAACACAAG -3'
Sequencing Primer
(F):5'- ACTGCCTCTTTAATTTCACAGGAG -3'
(R):5'- CTCCTAGGAAACACAAGAATGAAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation