Incidental Mutation 'R5837:Rabgap1l'
| ID |
449623 |
| 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 |
044057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
T to C
at 160134792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably benign
Transcript: ENSMUST00000028052
|
| SMART Domains |
Protein: ENSMUSP00000028052
Gene: ENSMUSG00000026721
| 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 |
probably benign
Transcript: ENSMUST00000191941
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000193185
AA Change: E39G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195114
|
| Meta Mutation Damage Score |
0.3409 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,594,806 (GRCm39) |
N605D |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,053,277 (GRCm39) |
M1240V |
probably benign |
Het |
| Atf1 |
T |
A |
15: 100,152,265 (GRCm39) |
I86N |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,483 (GRCm39) |
|
probably null |
Het |
| Bet1l |
C |
A |
7: 140,434,694 (GRCm39) |
R51L |
probably benign |
Het |
| Bpifa5 |
A |
G |
2: 154,005,598 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ccdc141 |
G |
T |
2: 76,938,781 (GRCm39) |
Q275K |
possibly damaging |
Het |
| Cep295 |
T |
A |
9: 15,258,280 (GRCm39) |
H241L |
probably damaging |
Het |
| Commd7 |
A |
G |
2: 153,471,144 (GRCm39) |
V36A |
possibly damaging |
Het |
| Cyld |
G |
A |
8: 89,468,032 (GRCm39) |
S555N |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,959,919 (GRCm39) |
I79N |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,416,515 (GRCm39) |
S562P |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,053,865 (GRCm39) |
I1664F |
possibly damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,753,926 (GRCm39) |
V277A |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,221,054 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
G |
A |
15: 100,592,527 (GRCm39) |
T560M |
possibly damaging |
Het |
| Glra1 |
G |
T |
11: 55,427,333 (GRCm39) |
|
probably null |
Het |
| Gm10762 |
C |
T |
2: 128,809,077 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,586 (GRCm39) |
R1459H |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,308,514 (GRCm39) |
K1048E |
probably damaging |
Het |
| Ilk |
T |
C |
7: 105,390,378 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
C |
T |
7: 30,770,208 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,374,105 (GRCm39) |
T59A |
possibly damaging |
Het |
| Lzic |
G |
T |
4: 149,570,457 (GRCm39) |
|
probably null |
Het |
| Mef2d |
A |
G |
3: 88,069,088 (GRCm39) |
T286A |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,361,839 (GRCm39) |
C4447F |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,294,930 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
T |
C |
19: 46,071,622 (GRCm39) |
|
probably benign |
Het |
| Npl |
T |
C |
1: 153,379,271 (GRCm39) |
T271A |
probably benign |
Het |
| Nudt1 |
A |
G |
5: 140,320,295 (GRCm39) |
R25G |
probably damaging |
Het |
| Nudt19 |
T |
C |
7: 35,251,061 (GRCm39) |
E226G |
possibly damaging |
Het |
| Oc90 |
T |
C |
15: 65,748,295 (GRCm39) |
D405G |
probably benign |
Het |
| Or10q1b |
T |
A |
19: 13,682,324 (GRCm39) |
C44* |
probably null |
Het |
| Or1e1c |
A |
G |
11: 73,266,474 (GRCm39) |
M300V |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 86,980,699 (GRCm39) |
F102Y |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,266 (GRCm39) |
L161H |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,880 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pcdhb9 |
C |
A |
18: 37,535,851 (GRCm39) |
A615E |
probably damaging |
Het |
| Phrf1 |
C |
G |
7: 140,839,974 (GRCm39) |
D1056E |
probably benign |
Het |
| Phyhip |
C |
A |
14: 70,704,450 (GRCm39) |
A223E |
probably damaging |
Het |
| Polr2h |
T |
A |
16: 20,536,682 (GRCm39) |
I4N |
probably damaging |
Het |
| Ppp1r12c |
C |
A |
7: 4,500,403 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,140 (GRCm39) |
T37S |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,001,417 (GRCm39) |
V1169A |
probably benign |
Het |
| Rapgef3 |
C |
T |
15: 97,655,223 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,341,112 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
C |
T |
1: 96,746,707 (GRCm39) |
E712K |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,316,428 (GRCm39) |
T168A |
probably benign |
Het |
| Stoml2 |
G |
T |
4: 43,028,989 (GRCm39) |
N248K |
probably damaging |
Het |
| Tmigd1 |
A |
G |
11: 76,806,911 (GRCm39) |
|
probably benign |
Het |
| Tnc |
T |
A |
4: 63,931,451 (GRCm39) |
D753V |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,722,202 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,667,180 (GRCm39) |
S22G |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,067,326 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,547,718 (GRCm39) |
T32151A |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,800,701 (GRCm39) |
F373Y |
probably damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,949 (GRCm39) |
I10T |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,606,054 (GRCm39) |
F322S |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,360,300 (GRCm39) |
D35G |
probably benign |
Het |
| Zfp365 |
A |
T |
10: 67,724,870 (GRCm39) |
H339Q |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,648 (GRCm39) |
H235L |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,442,097 (GRCm39) |
|
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 |
|
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'- GCATATTACCGACATAGAACAGTG -3'
(R):5'- TCTCAAGTGGGTGTGTGCAC -3'
Sequencing Primer
(F):5'- TGAAAGCCTGCAGACCTCG -3'
(R):5'- TGCACTGAGCTGCCCTAAGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation