Incidental Mutation 'R1485:Rabgap1l'
| ID |
163369 |
| 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 |
039538-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1485 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| 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 |
|---|
| Adgrv1 |
A |
G |
13: 81,727,738 (GRCm39) |
S301P |
probably damaging |
Het |
| AI987944 |
C |
A |
7: 41,023,954 (GRCm39) |
G342* |
probably null |
Het |
| Alox5 |
A |
T |
6: 116,401,125 (GRCm39) |
F212I |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,896,105 (GRCm39) |
D322E |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,275,009 (GRCm39) |
Y355* |
probably null |
Het |
| Bloc1s6 |
T |
G |
2: 122,588,063 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
A |
G |
11: 78,176,406 (GRCm39) |
Y1836C |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,165,972 (GRCm39) |
L240Q |
probably damaging |
Het |
| Ccdc77 |
G |
A |
6: 120,315,101 (GRCm39) |
Q183* |
probably null |
Het |
| Ccdc92 |
T |
C |
5: 124,913,335 (GRCm39) |
T65A |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Coch |
G |
T |
12: 51,645,072 (GRCm39) |
V209F |
probably damaging |
Het |
| Cops3 |
G |
A |
11: 59,718,715 (GRCm39) |
T193M |
possibly damaging |
Het |
| Cped1 |
T |
C |
6: 22,132,387 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
A |
T |
6: 87,088,067 (GRCm39) |
S77C |
unknown |
Het |
| Defb7 |
A |
G |
8: 19,545,110 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
A |
G |
2: 130,590,603 (GRCm39) |
|
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,610,843 (GRCm39) |
|
probably null |
Het |
| Evc2 |
C |
T |
5: 37,527,900 (GRCm39) |
A303V |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,430 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,712,676 (GRCm39) |
F54I |
probably benign |
Het |
| Gm7104 |
C |
A |
12: 88,252,333 (GRCm39) |
|
noncoding transcript |
Het |
| Grid1 |
A |
T |
14: 34,544,540 (GRCm39) |
D37V |
probably damaging |
Het |
| Icam5 |
G |
A |
9: 20,947,702 (GRCm39) |
A560T |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,910,172 (GRCm39) |
I2019S |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,929 (GRCm39) |
V65A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,164,851 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
G |
9: 44,738,225 (GRCm39) |
|
probably benign |
Het |
| Marchf6 |
T |
A |
15: 31,498,839 (GRCm39) |
T153S |
probably damaging |
Het |
| Mcam |
T |
A |
9: 44,048,060 (GRCm39) |
I72N |
probably damaging |
Het |
| Ncoa4-ps |
A |
G |
12: 119,224,785 (GRCm39) |
|
noncoding transcript |
Het |
| Nkain3 |
T |
C |
4: 20,484,932 (GRCm39) |
I48M |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,504 (GRCm39) |
I107N |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 98,007,573 (GRCm39) |
H441R |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,187 (GRCm39) |
R360C |
probably benign |
Het |
| Or56a5 |
A |
G |
7: 104,792,888 (GRCm39) |
I210T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,763,793 (GRCm39) |
S4089P |
unknown |
Het |
| Pi4kb |
A |
G |
3: 94,901,698 (GRCm39) |
E455G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,208,788 (GRCm39) |
Y2525C |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 116,016,908 (GRCm39) |
V283A |
possibly damaging |
Het |
| Pramel12 |
G |
A |
4: 143,144,188 (GRCm39) |
R178Q |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,426,401 (GRCm39) |
I815T |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,127,653 (GRCm39) |
D202E |
probably benign |
Het |
| Septin14 |
C |
T |
5: 129,770,118 (GRCm39) |
A193T |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,876,370 (GRCm39) |
S112G |
probably benign |
Het |
| Siah3 |
T |
A |
14: 75,762,994 (GRCm39) |
Y82N |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,853 (GRCm39) |
S425P |
probably damaging |
Het |
| Slc9a2 |
C |
T |
1: 40,765,548 (GRCm39) |
L313F |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,230,433 (GRCm39) |
V50A |
probably benign |
Het |
| Spata31e2 |
T |
G |
1: 26,724,961 (GRCm39) |
K73T |
possibly damaging |
Het |
| Supt3 |
G |
A |
17: 45,347,607 (GRCm39) |
A197T |
probably benign |
Het |
| Tex10 |
A |
G |
4: 48,436,492 (GRCm39) |
I742T |
possibly damaging |
Het |
| Tex44 |
T |
A |
1: 86,355,640 (GRCm39) |
H516Q |
possibly damaging |
Het |
| Tfdp1 |
T |
G |
8: 13,420,917 (GRCm39) |
D171E |
probably damaging |
Het |
| Trim31 |
A |
C |
17: 37,209,568 (GRCm39) |
D108A |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,791,579 (GRCm39) |
N135S |
probably benign |
Het |
| Uso1 |
G |
A |
5: 92,328,422 (GRCm39) |
V340I |
possibly damaging |
Het |
| Utp6 |
A |
C |
11: 79,839,749 (GRCm39) |
V313G |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,109 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xdh |
C |
A |
17: 74,221,014 (GRCm39) |
E572* |
probably null |
Het |
| Zbtb7c |
T |
C |
18: 76,270,061 (GRCm39) |
S50P |
probably damaging |
Het |
| Zfp672 |
A |
G |
11: 58,220,395 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,791,635 (GRCm39) |
|
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 |
|
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 |
|
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'- GCATGTTCATGCACAATATAGCAGGCT -3'
(R):5'- GCCCATTCTCTCTTCCACTGAAACAA -3'
Sequencing Primer
(F):5'- TCCTGTAGAAAATTGCTGCATTG -3'
(R):5'- tcttaacaatcttactcttaccttgc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation