Incidental Mutation 'R1104:Rabgap1l'
ID |
98321 |
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 |
039177-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1104 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 160059445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028052]
|
AlphaFold |
A6H6A9 |
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: ENSMUST00000191909
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192019
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194623
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194824
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
99% (70/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
4930550C14Rik |
A |
G |
9: 53,332,917 (GRCm39) |
I93V |
probably benign |
Het |
Abcg5 |
A |
C |
17: 84,989,477 (GRCm39) |
I77S |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,171,545 (GRCm39) |
Y762C |
probably benign |
Het |
Agap1 |
T |
C |
1: 89,716,962 (GRCm39) |
S26P |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,347,426 (GRCm39) |
Y441C |
probably damaging |
Het |
B3gnt3 |
A |
G |
8: 72,146,481 (GRCm39) |
L16S |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,982,002 (GRCm39) |
D1677E |
probably damaging |
Het |
Cd5l |
T |
A |
3: 87,268,206 (GRCm39) |
S18T |
probably benign |
Het |
Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
Cfap61 |
C |
A |
2: 145,792,981 (GRCm39) |
S64* |
probably null |
Het |
Cryzl2 |
T |
A |
1: 157,298,174 (GRCm39) |
|
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Dhrs1 |
T |
C |
14: 55,981,162 (GRCm39) |
K83E |
probably benign |
Het |
Dmrt2 |
T |
A |
19: 25,655,980 (GRCm39) |
F526L |
probably benign |
Het |
Dnajb14 |
T |
A |
3: 137,614,115 (GRCm39) |
M342K |
possibly damaging |
Het |
Dpf3 |
A |
G |
12: 83,378,761 (GRCm39) |
V101A |
probably benign |
Het |
Dthd1 |
A |
C |
5: 62,979,302 (GRCm39) |
T321P |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Fras1 |
G |
A |
5: 96,856,530 (GRCm39) |
R1971Q |
probably benign |
Het |
Fry |
A |
G |
5: 150,419,754 (GRCm39) |
N608S |
probably damaging |
Het |
Gabrr3 |
T |
A |
16: 59,281,998 (GRCm39) |
V451D |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,924,235 (GRCm39) |
L251P |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,781,080 (GRCm39) |
S222C |
probably damaging |
Het |
Gsr |
A |
G |
8: 34,159,949 (GRCm39) |
E99G |
probably damaging |
Het |
H1f5 |
T |
C |
13: 21,964,451 (GRCm39) |
T92A |
possibly damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hus1b |
T |
C |
13: 31,131,679 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
A |
7: 67,844,774 (GRCm39) |
I849N |
possibly damaging |
Het |
Itih5 |
A |
G |
2: 10,256,323 (GRCm39) |
T930A |
probably benign |
Het |
Ivns1abp |
T |
A |
1: 151,235,860 (GRCm39) |
M309K |
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,952,864 (GRCm39) |
F1078Y |
probably damaging |
Het |
Krt12 |
C |
A |
11: 99,312,792 (GRCm39) |
G84V |
unknown |
Het |
Krt40 |
T |
G |
11: 99,431,059 (GRCm39) |
E150A |
probably damaging |
Het |
Lcn11 |
G |
T |
2: 25,669,115 (GRCm39) |
|
probably benign |
Het |
Lcor |
G |
T |
19: 41,574,502 (GRCm39) |
G1086C |
probably damaging |
Het |
Liph |
A |
G |
16: 21,802,898 (GRCm39) |
I57T |
possibly damaging |
Het |
Lrrc46 |
C |
T |
11: 96,926,997 (GRCm39) |
V107M |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,004,832 (GRCm39) |
I45T |
probably damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,841,554 (GRCm39) |
|
probably benign |
Het |
Mark3 |
C |
T |
12: 111,584,831 (GRCm39) |
|
probably benign |
Het |
Mug2 |
C |
T |
6: 122,036,014 (GRCm39) |
A642V |
probably benign |
Het |
Myh11 |
A |
G |
16: 14,019,991 (GRCm39) |
S1814P |
possibly damaging |
Het |
Ndst1 |
T |
A |
18: 60,830,218 (GRCm39) |
S631C |
probably damaging |
Het |
Nrbf2 |
A |
T |
10: 67,103,691 (GRCm39) |
D137E |
possibly damaging |
Het |
Or2ag16 |
A |
T |
7: 106,351,989 (GRCm39) |
M202K |
probably benign |
Het |
Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
Or6c208 |
T |
A |
10: 129,224,090 (GRCm39) |
M196K |
probably benign |
Het |
Parn |
A |
G |
16: 13,485,449 (GRCm39) |
Y16H |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,664,785 (GRCm39) |
|
probably benign |
Het |
Prl3d1 |
C |
T |
13: 27,283,992 (GRCm39) |
T187I |
probably benign |
Het |
Ptgir |
G |
A |
7: 16,641,055 (GRCm39) |
|
probably null |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,368,055 (GRCm39) |
Y4697H |
probably benign |
Het |
Rps6ka4 |
T |
A |
19: 6,808,364 (GRCm39) |
I598F |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,684,855 (GRCm39) |
V3029M |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 24,003,920 (GRCm39) |
F335S |
probably damaging |
Het |
Spata6l |
T |
C |
19: 28,945,032 (GRCm39) |
M1V |
probably null |
Het |
Stau2 |
A |
T |
1: 16,510,585 (GRCm39) |
Y124* |
probably null |
Het |
Tbl3 |
A |
G |
17: 24,920,580 (GRCm39) |
I652T |
probably benign |
Het |
Trappc3 |
C |
T |
4: 126,166,759 (GRCm39) |
|
probably benign |
Het |
Trim60 |
A |
T |
8: 65,454,071 (GRCm39) |
F59L |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,648,453 (GRCm39) |
F4686S |
probably benign |
Het |
Vcan |
T |
C |
13: 89,840,529 (GRCm39) |
T1672A |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,758 (GRCm39) |
I266N |
possibly damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,487 (GRCm39) |
V657E |
possibly damaging |
Het |
Wdr95 |
G |
T |
5: 149,529,802 (GRCm39) |
A548S |
probably benign |
Het |
Zfp12 |
A |
G |
5: 143,231,500 (GRCm39) |
Y609C |
probably damaging |
Het |
Znfx1 |
C |
A |
2: 166,897,560 (GRCm39) |
E455* |
probably null |
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 |
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 |
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'- CCTTGCCTGTGAAGTCCCATGTTAG -3'
(R):5'- AACCCACTTCTGTGCTGAATGTCTC -3'
Sequencing Primer
(F):5'- AGTCCCATGTTAGCTATAGGAGC -3'
(R):5'- TGATTAGGTCAGGCTTCCCAC -3'
|
Posted On |
2014-01-05 |