Incidental Mutation 'R7303:Rabgap1l'
| ID |
567077 |
| 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 |
045364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 160509667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 470
(I470S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028049
AA Change: I470S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: I470S
| 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: ENSMUST00000195442
AA Change: I442S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: I442S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
G |
17: 24,617,495 (GRCm39) |
L1064R |
possibly damaging |
Het |
| Abca7 |
A |
T |
10: 79,850,822 (GRCm39) |
D2051V |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,295 (GRCm39) |
I626F |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,977,774 (GRCm39) |
S333P |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,468,820 (GRCm39) |
S695P |
probably benign |
Het |
| Aen |
C |
T |
7: 78,552,204 (GRCm39) |
P55S |
possibly damaging |
Het |
| Afg3l1 |
G |
T |
8: 124,228,008 (GRCm39) |
A598S |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,797,328 (GRCm39) |
L160Q |
probably damaging |
Het |
| Ang |
A |
T |
14: 51,338,973 (GRCm39) |
H38L |
probably benign |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,373,924 (GRCm39) |
K862* |
probably null |
Het |
| Brme1 |
G |
C |
8: 84,887,862 (GRCm39) |
G71A |
probably benign |
Het |
| Cad |
T |
C |
5: 31,217,557 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
A |
T |
19: 40,797,438 (GRCm39) |
Y740F |
unknown |
Het |
| Ccdc182 |
T |
C |
11: 88,185,042 (GRCm39) |
Y41H |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,778,532 (GRCm39) |
R2848G |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,897,019 (GRCm39) |
L286* |
probably null |
Het |
| Cimap1d |
G |
A |
10: 79,478,525 (GRCm39) |
P80S |
probably benign |
Het |
| Cracr2b |
A |
G |
7: 141,043,115 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,699,568 (GRCm39) |
|
probably null |
Het |
| Flnc |
T |
C |
6: 29,460,849 (GRCm39) |
S2647P |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,145,506 (GRCm39) |
D76G |
probably damaging |
Het |
| Fxyd1 |
T |
A |
7: 30,753,743 (GRCm39) |
M17L |
probably benign |
Het |
| Golim4 |
G |
A |
3: 75,785,360 (GRCm39) |
S677L |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,491 (GRCm39) |
V455A |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,540,312 (GRCm39) |
S132R |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,659,037 (GRCm39) |
I163V |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,098 (GRCm39) |
D2393V |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,965,762 (GRCm39) |
K44E |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,789,351 (GRCm39) |
D605G |
probably benign |
Het |
| Kbtbd12 |
G |
T |
6: 88,591,094 (GRCm39) |
F16L |
unknown |
Het |
| Klhl23 |
T |
C |
2: 69,655,045 (GRCm39) |
I305T |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,006,411 (GRCm39) |
N7I |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,641,774 (GRCm39) |
L1396P |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,678,637 (GRCm39) |
E13G |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,970 (GRCm39) |
V704A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,165,508 (GRCm39) |
S1303P |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,864,928 (GRCm39) |
D516G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
T |
A |
11: 105,216,629 (GRCm39) |
N139K |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,261,125 (GRCm39) |
E1789K |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,460,660 (GRCm39) |
L271Q |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 143,921,912 (GRCm39) |
H274L |
probably benign |
Het |
| Oosp1 |
A |
C |
19: 11,645,774 (GRCm39) |
S121R |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,267 (GRCm39) |
S218P |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,521,166 (GRCm39) |
V51A |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,721,197 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
C |
7: 116,005,178 (GRCm39) |
S363R |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,468,868 (GRCm39) |
Y215H |
probably benign |
Het |
| Ppcdc |
A |
T |
9: 57,321,958 (GRCm39) |
V194E |
probably benign |
Het |
| Scgb1b3 |
G |
A |
7: 31,075,383 (GRCm39) |
A78T |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,083,345 (GRCm39) |
L368Q |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,576 (GRCm39) |
I944F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,206,805 (GRCm39) |
H3461L |
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,145 (GRCm39) |
Y208C |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,809 (GRCm39) |
E1003G |
probably damaging |
Het |
| Tm9sf3 |
G |
A |
19: 41,227,198 (GRCm39) |
S291F |
probably damaging |
Het |
| Tra2a |
G |
A |
6: 49,227,921 (GRCm39) |
T69I |
unknown |
Het |
| Ube2q1 |
T |
A |
3: 89,683,898 (GRCm39) |
L171Q |
possibly damaging |
Het |
| Ufd1 |
A |
G |
16: 18,636,715 (GRCm39) |
T78A |
probably damaging |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,587 (GRCm39) |
S249P |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,258 (GRCm39) |
S648L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,058 (GRCm39) |
N224K |
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 |
|
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 |
|
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'- GTGTGTCTGAGACTAGGAACGC -3'
(R):5'- CAGACATGGTCTAGATAAATGTTTTGC -3'
Sequencing Primer
(F):5'- TGAGACTAGGAACGCCATGACTC -3'
(R):5'- ATTGTTTCAGTCTGAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation