Incidental Mutation 'R7089:Rabgap1l'
| ID |
550057 |
| 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 |
045183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7089 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
160046744-160620781 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 160551742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 245
(Y245*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028049
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028049]
[ENSMUST00000195442]
|
| AlphaFold |
A6H6A9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028049
AA Change: Y245*
|
| SMART Domains |
Protein: ENSMUSP00000028049
Gene: ENSMUSG00000026721
AA Change: Y245*
| 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 null
Transcript: ENSMUST00000195442
AA Change: Y217*
|
| SMART Domains |
Protein: ENSMUSP00000141666
Gene: ENSMUSG00000026721
AA Change: Y217*
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,927 (GRCm39) |
V494A |
probably benign |
Het |
| 1700017B05Rik |
A |
T |
9: 57,166,041 (GRCm39) |
L111Q |
probably damaging |
Het |
| Adgrf4 |
T |
G |
17: 42,977,424 (GRCm39) |
I640L |
possibly damaging |
Het |
| Afdn |
T |
G |
17: 14,111,074 (GRCm39) |
|
probably null |
Het |
| Ammecr1l |
A |
T |
18: 31,894,877 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,375,808 (GRCm39) |
Y879F |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,862,181 (GRCm39) |
|
probably null |
Het |
| Arpp21 |
G |
T |
9: 111,955,514 (GRCm39) |
H542N |
probably benign |
Het |
| Ccdc192 |
C |
T |
18: 57,725,059 (GRCm39) |
T96I |
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,298,719 (GRCm39) |
R452Q |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,372,667 (GRCm39) |
H149Y |
|
Het |
| Clpp |
T |
G |
17: 57,297,421 (GRCm39) |
W32G |
probably benign |
Het |
| Dnmt1 |
G |
T |
9: 20,819,785 (GRCm39) |
L1572M |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,627,741 (GRCm39) |
R128S |
probably damaging |
Het |
| Elmo2 |
A |
T |
2: 165,146,849 (GRCm39) |
F243I |
possibly damaging |
Het |
| Endou |
G |
A |
15: 97,618,126 (GRCm39) |
P128L |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,908,214 (GRCm39) |
M2596T |
probably benign |
Het |
| Fbxl16 |
A |
G |
17: 26,035,703 (GRCm39) |
K100R |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,062,230 (GRCm39) |
S99P |
possibly damaging |
Het |
| Fez1 |
A |
T |
9: 36,778,999 (GRCm39) |
R225S |
probably benign |
Het |
| Gm14326 |
A |
T |
2: 177,588,464 (GRCm39) |
H177Q |
probably damaging |
Het |
| Gm32742 |
T |
A |
9: 51,054,546 (GRCm39) |
M1360L |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,271,677 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Ifnl3 |
A |
G |
7: 28,223,283 (GRCm39) |
K101E |
probably benign |
Het |
| Il15 |
A |
T |
8: 83,064,204 (GRCm39) |
S77R |
probably damaging |
Het |
| Ints13 |
T |
C |
6: 146,476,216 (GRCm39) |
D95G |
probably damaging |
Het |
| Kcmf1 |
G |
A |
6: 72,819,929 (GRCm39) |
P357S |
probably benign |
Het |
| Kcmf1 |
G |
T |
6: 72,825,289 (GRCm39) |
T268K |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,748,153 (GRCm39) |
I3057N |
unknown |
Het |
| Lgi2 |
A |
G |
5: 52,695,832 (GRCm39) |
F376L |
probably damaging |
Het |
| Lrig3 |
T |
G |
10: 125,832,993 (GRCm39) |
L289R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,785,876 (GRCm39) |
S25G |
probably benign |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Nalcn |
A |
C |
14: 123,515,761 (GRCm39) |
I1680R |
probably benign |
Het |
| Or13d1 |
C |
T |
4: 52,971,470 (GRCm39) |
P283L |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,902 (GRCm39) |
K90N |
probably benign |
Het |
| Or5g26 |
C |
T |
2: 85,494,518 (GRCm39) |
V87M |
possibly damaging |
Het |
| Or5p62 |
A |
T |
7: 107,771,701 (GRCm39) |
N83K |
probably benign |
Het |
| Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
| Oxgr1 |
A |
G |
14: 120,259,614 (GRCm39) |
Y198H |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,784,559 (GRCm39) |
N645I |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,889,691 (GRCm39) |
T158A |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,206,315 (GRCm39) |
R608C |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,228,049 (GRCm39) |
T408A |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,845 (GRCm39) |
V1014A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,399,374 (GRCm39) |
T2180A |
probably damaging |
Het |
| Rerg |
T |
C |
6: 137,044,033 (GRCm39) |
T28A |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,249,216 (GRCm39) |
I335T |
probably damaging |
Het |
| Rmnd1 |
C |
T |
10: 4,353,873 (GRCm39) |
V78I |
probably damaging |
Het |
| Ryr2 |
A |
C |
13: 11,664,662 (GRCm39) |
V3547G |
probably benign |
Het |
| Scnn1a |
C |
A |
6: 125,314,770 (GRCm39) |
Q324K |
probably benign |
Het |
| Serpinb6e |
G |
A |
13: 34,016,698 (GRCm39) |
T345I |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,668,955 (GRCm39) |
T1687A |
probably benign |
Het |
| Smim45 |
A |
T |
15: 82,136,774 (GRCm39) |
|
probably benign |
Het |
| Speer4f2 |
A |
C |
5: 17,581,661 (GRCm39) |
H201P |
|
Het |
| Spef2 |
G |
A |
15: 9,725,257 (GRCm39) |
R167C |
probably damaging |
Het |
| Srp68 |
A |
G |
11: 116,162,733 (GRCm39) |
|
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,669,884 (GRCm39) |
F455I |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,432,006 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tlr3 |
A |
T |
8: 45,850,810 (GRCm39) |
S696T |
probably benign |
Het |
| Tmem63b |
T |
C |
17: 45,978,709 (GRCm39) |
N300S |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,637,150 (GRCm39) |
I328M |
probably damaging |
Het |
| Tpm3 |
C |
T |
3: 89,980,029 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,758,833 (GRCm39) |
L63Q |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,613,265 (GRCm39) |
R324C |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,507,204 (GRCm39) |
N107K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,656,100 (GRCm39) |
T770A |
|
Het |
| Zcchc2 |
C |
A |
1: 105,958,211 (GRCm39) |
P894Q |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,303,229 (GRCm39) |
V1585A |
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 |
|
|
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'- GTGTCTAGAAAGCATGCTAAGTG -3'
(R):5'- AACTGTTAGTATGTACTGACCAGTG -3'
Sequencing Primer
(F):5'- CTGTATTTCAGGCACAATGCTAAC -3'
(R):5'- ACCAGTGGTCGATTGATGCTTACTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation