Incidental Mutation 'R5472:Rasal3'
| ID |
433895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasal3
|
| Ensembl Gene |
ENSMUSG00000052142 |
| Gene Name |
RAS protein activator like 3 |
| Synonyms |
A430107D22Rik |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
150 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32609633-32622557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32615643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 374
(L374F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063824]
[ENSMUST00000135618]
[ENSMUST00000136375]
[ENSMUST00000137458]
|
| AlphaFold |
Q8C2K5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063824
AA Change: L396F
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: L396F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
137 |
N/A |
INTRINSIC |
|
PH
|
165 |
323 |
3.94e0 |
SMART |
|
Blast:RasGAP
|
354 |
381 |
9e-8 |
BLAST |
|
low complexity region
|
385 |
402 |
N/A |
INTRINSIC |
|
RasGAP
|
433 |
755 |
2.03e-81 |
SMART |
|
low complexity region
|
826 |
839 |
N/A |
INTRINSIC |
|
coiled coil region
|
932 |
1013 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135560
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135618
AA Change: L374F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: L374F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
|
PH
|
143 |
301 |
3.94e0 |
SMART |
|
Blast:RasGAP
|
332 |
359 |
9e-8 |
BLAST |
|
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
|
RasGAP
|
411 |
733 |
2.03e-81 |
SMART |
|
low complexity region
|
804 |
817 |
N/A |
INTRINSIC |
|
coiled coil region
|
910 |
991 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135968
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136375
AA Change: L374F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142
AA Change: L374F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
115 |
N/A |
INTRINSIC |
|
PH
|
143 |
301 |
3.94e0 |
SMART |
|
Blast:RasGAP
|
332 |
359 |
7e-8 |
BLAST |
|
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
|
Pfam:RasGAP
|
483 |
579 |
6.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137458
AA Change: L398F
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: L398F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
140 |
N/A |
INTRINSIC |
|
PH
|
167 |
325 |
3.94e0 |
SMART |
|
Blast:RasGAP
|
356 |
383 |
9e-8 |
BLAST |
|
low complexity region
|
387 |
404 |
N/A |
INTRINSIC |
|
RasGAP
|
435 |
757 |
2.03e-81 |
SMART |
|
low complexity region
|
828 |
841 |
N/A |
INTRINSIC |
|
coiled coil region
|
934 |
1015 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143808
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced NT T cells in the liver, increased granulocytes in the bone marrow and decreased susceptibility to alpha-GalCer-induced liver injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Setd7 |
G |
A |
3: 51,428,886 (GRCm39) |
P315S |
probably benign |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
Het |
|
| Other mutations in Rasal3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01126:Rasal3
|
APN |
17 |
32,616,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02291:Rasal3
|
APN |
17 |
32,612,711 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02346:Rasal3
|
APN |
17 |
32,618,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02422:Rasal3
|
APN |
17 |
32,617,947 (GRCm39) |
missense |
probably benign |
0.11 |
|
Beaten
|
UTSW |
17 |
32,610,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
bent
|
UTSW |
17 |
32,615,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bowed
|
UTSW |
17 |
32,615,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
kinked
|
UTSW |
17 |
32,615,324 (GRCm39) |
nonsense |
probably null |
|
|
whipped
|
UTSW |
17 |
32,612,502 (GRCm39) |
frame shift |
probably null |
|
|
R0057:Rasal3
|
UTSW |
17 |
32,610,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0133:Rasal3
|
UTSW |
17 |
32,622,357 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R0180:Rasal3
|
UTSW |
17 |
32,618,379 (GRCm39) |
missense |
probably benign |
|
|
R0403:Rasal3
|
UTSW |
17 |
32,611,764 (GRCm39) |
splice site |
probably null |
|
|
R0452:Rasal3
|
UTSW |
17 |
32,614,791 (GRCm39) |
splice site |
probably benign |
|
|
R0600:Rasal3
|
UTSW |
17 |
32,612,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0760:Rasal3
|
UTSW |
17 |
32,611,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1438:Rasal3
|
UTSW |
17 |
32,612,509 (GRCm39) |
splice site |
probably null |
|
|
R1669:Rasal3
|
UTSW |
17 |
32,622,072 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1914:Rasal3
|
UTSW |
17 |
32,615,324 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Rasal3
|
UTSW |
17 |
32,616,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Rasal3
|
UTSW |
17 |
32,612,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Rasal3
|
UTSW |
17 |
32,622,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3770:Rasal3
|
UTSW |
17 |
32,611,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3870:Rasal3
|
UTSW |
17 |
32,612,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4491:Rasal3
|
UTSW |
17 |
32,610,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4783:Rasal3
|
UTSW |
17 |
32,615,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4788:Rasal3
|
UTSW |
17 |
32,618,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4903:Rasal3
|
UTSW |
17 |
32,616,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Rasal3
|
UTSW |
17 |
32,615,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Rasal3
|
UTSW |
17 |
32,610,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5433:Rasal3
|
UTSW |
17 |
32,612,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5920:Rasal3
|
UTSW |
17 |
32,614,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Rasal3
|
UTSW |
17 |
32,616,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Rasal3
|
UTSW |
17 |
32,622,044 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7047:Rasal3
|
UTSW |
17 |
32,615,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Rasal3
|
UTSW |
17 |
32,611,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7179:Rasal3
|
UTSW |
17 |
32,611,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Rasal3
|
UTSW |
17 |
32,614,835 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7768:Rasal3
|
UTSW |
17 |
32,615,767 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7874:Rasal3
|
UTSW |
17 |
32,615,681 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8155:Rasal3
|
UTSW |
17 |
32,616,381 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8265:Rasal3
|
UTSW |
17 |
32,614,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8544:Rasal3
|
UTSW |
17 |
32,611,093 (GRCm39) |
missense |
probably benign |
|
|
R8677:Rasal3
|
UTSW |
17 |
32,615,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8695:Rasal3
|
UTSW |
17 |
32,611,736 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9037:Rasal3
|
UTSW |
17 |
32,614,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9307:Rasal3
|
UTSW |
17 |
32,612,502 (GRCm39) |
frame shift |
probably null |
|
|
R9417:Rasal3
|
UTSW |
17 |
32,615,441 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9486:Rasal3
|
UTSW |
17 |
32,617,910 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9712:Rasal3
|
UTSW |
17 |
32,615,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF004:Rasal3
|
UTSW |
17 |
32,610,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Rasal3
|
UTSW |
17 |
32,611,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0027:Rasal3
|
UTSW |
17 |
32,610,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Rasal3
|
UTSW |
17 |
32,622,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rasal3
|
UTSW |
17 |
32,618,284 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGGCCAGCTCCTTATAG -3'
(R):5'- TCTTGTATGTAGGACAACGTGG -3'
Sequencing Primer
(F):5'- TCCTTATAGCGCTCCGACGG -3'
(R):5'- CGGCAAGAGATGTGGCTGAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation