Incidental Mutation 'R3053:Rapgef1'
| ID |
265020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef1
|
| Ensembl Gene |
ENSMUSG00000039844 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 1 |
| Synonyms |
C3G, Grf2, 4932418O06Rik |
| MMRRC Submission |
040562-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3053 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29509732-29630376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29614868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 817
(I817T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091146]
[ENSMUST00000095087]
[ENSMUST00000102872]
[ENSMUST00000147755]
|
| AlphaFold |
Q3UHC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091146
AA Change: I817T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088680
Gene: ENSMUSG00000039844
AA Change: I817T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
700 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
741 |
N/A |
INTRINSIC |
|
RasGEFN
|
828 |
970 |
8.04e-37 |
SMART |
|
RasGEF
|
977 |
1206 |
5.85e-102 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095087
AA Change: I823T
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092703
Gene: ENSMUSG00000039844
AA Change: I823T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
738 |
N/A |
INTRINSIC |
|
RasGEFN
|
834 |
976 |
8.04e-37 |
SMART |
|
RasGEF
|
983 |
1212 |
5.85e-102 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102872
AA Change: I685T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099936
Gene: ENSMUSG00000039844
AA Change: I685T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
559 |
N/A |
INTRINSIC |
|
RasGEFN
|
696 |
838 |
8.04e-37 |
SMART |
|
RasGEF
|
845 |
1074 |
5.85e-102 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147488
AA Change: I241T
|
| SMART Domains |
Protein: ENSMUSP00000117631
Gene: ENSMUSG00000039844
AA Change: I241T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
RasGEFN
|
253 |
395 |
8.04e-37 |
SMART |
|
RasGEF
|
402 |
631 |
5.85e-102 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147755
|
| SMART Domains |
Protein: ENSMUSP00000121615
Gene: ENSMUSG00000039844
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
681 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1524 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die before E7.5. Mice homozygous for a hypomorphic gene trap allele show embryonic lethality during organogenesis, altered neuroepithelium morphology, vascular maturation defects, hemorrhage, and reduced cell migration and adhesion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,124,086 (GRCm39) |
L1255P |
probably damaging |
Het |
| Agl |
T |
A |
3: 116,584,682 (GRCm39) |
I213F |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,906,200 (GRCm39) |
V273A |
probably benign |
Het |
| Asb18 |
T |
A |
1: 89,920,707 (GRCm39) |
H149L |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,169,440 (GRCm39) |
T809A |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,260 (GRCm39) |
E613G |
probably benign |
Het |
| Cibar1 |
G |
C |
4: 12,157,767 (GRCm39) |
|
probably null |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,542,410 (GRCm39) |
I471V |
possibly damaging |
Het |
| Dmtf1 |
G |
T |
5: 9,179,316 (GRCm39) |
T206K |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,400 (GRCm39) |
Y261C |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,860 (GRCm39) |
R2519K |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,910,630 (GRCm39) |
A267S |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,221,871 (GRCm39) |
D550V |
probably damaging |
Het |
| Or1n1 |
T |
A |
2: 36,749,959 (GRCm39) |
M134L |
probably benign |
Het |
| Pole |
A |
T |
5: 110,437,661 (GRCm39) |
D73V |
probably damaging |
Het |
| Ppm1b |
G |
A |
17: 85,321,274 (GRCm39) |
R472K |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,075,874 (GRCm39) |
I18T |
probably benign |
Het |
| Psg18 |
C |
T |
7: 18,083,118 (GRCm39) |
G225R |
probably damaging |
Het |
| R3hcc1l |
T |
G |
19: 42,551,064 (GRCm39) |
Y20* |
probably null |
Het |
| Rasal3 |
T |
C |
17: 32,622,413 (GRCm39) |
E4G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,752,515 (GRCm39) |
V3598E |
probably damaging |
Het |
| Slc15a4 |
A |
T |
5: 127,673,746 (GRCm39) |
V556E |
possibly damaging |
Het |
| Spats2l |
A |
G |
1: 57,939,925 (GRCm39) |
K193R |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,227,226 (GRCm39) |
E1323K |
possibly damaging |
Het |
| Tbc1d21 |
T |
A |
9: 58,270,352 (GRCm39) |
D141V |
probably damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,087 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
A |
C |
8: 107,806,016 (GRCm39) |
L312R |
possibly damaging |
Het |
| Tmem132d |
A |
C |
5: 127,869,538 (GRCm39) |
S599A |
probably benign |
Het |
| Trp53bp2 |
T |
C |
1: 182,281,347 (GRCm39) |
F983L |
probably damaging |
Het |
| Ubxn2a |
T |
A |
12: 4,941,322 (GRCm39) |
K95* |
probably null |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,328 (GRCm39) |
N213K |
probably damaging |
Het |
| Xpo6 |
T |
C |
7: 125,703,893 (GRCm39) |
N1086D |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,930,987 (GRCm39) |
H312L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,585 (GRCm39) |
Y227H |
probably damaging |
Het |
|
| Other mutations in Rapgef1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Rapgef1
|
APN |
2 |
29,612,281 (GRCm39) |
missense |
probably benign |
|
|
IGL00917:Rapgef1
|
APN |
2 |
29,592,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02618:Rapgef1
|
APN |
2 |
29,627,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Rapgef1
|
APN |
2 |
29,590,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL02974:Rapgef1
|
APN |
2 |
29,600,228 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0034:Rapgef1
|
UTSW |
2 |
29,614,780 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Rapgef1
|
UTSW |
2 |
29,614,780 (GRCm39) |
splice site |
probably benign |
|
|
R0241:Rapgef1
|
UTSW |
2 |
29,592,682 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0241:Rapgef1
|
UTSW |
2 |
29,592,682 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0279:Rapgef1
|
UTSW |
2 |
29,616,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Rapgef1
|
UTSW |
2 |
29,569,828 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1817:Rapgef1
|
UTSW |
2 |
29,576,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Rapgef1
|
UTSW |
2 |
29,627,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Rapgef1
|
UTSW |
2 |
29,623,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1980:Rapgef1
|
UTSW |
2 |
29,612,239 (GRCm39) |
missense |
probably benign |
|
|
R2076:Rapgef1
|
UTSW |
2 |
29,592,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2363:Rapgef1
|
UTSW |
2 |
29,626,608 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3016:Rapgef1
|
UTSW |
2 |
29,597,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Rapgef1
|
UTSW |
2 |
29,609,701 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3980:Rapgef1
|
UTSW |
2 |
29,609,662 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4491:Rapgef1
|
UTSW |
2 |
29,609,668 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4524:Rapgef1
|
UTSW |
2 |
29,569,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Rapgef1
|
UTSW |
2 |
29,579,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Rapgef1
|
UTSW |
2 |
29,579,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5391:Rapgef1
|
UTSW |
2 |
29,627,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Rapgef1
|
UTSW |
2 |
29,627,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Rapgef1
|
UTSW |
2 |
29,592,448 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6062:Rapgef1
|
UTSW |
2 |
29,590,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6145:Rapgef1
|
UTSW |
2 |
29,626,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6580:Rapgef1
|
UTSW |
2 |
29,620,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6892:Rapgef1
|
UTSW |
2 |
29,589,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6897:Rapgef1
|
UTSW |
2 |
29,592,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Rapgef1
|
UTSW |
2 |
29,623,710 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7039:Rapgef1
|
UTSW |
2 |
29,616,226 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7149:Rapgef1
|
UTSW |
2 |
29,610,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7253:Rapgef1
|
UTSW |
2 |
29,589,733 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7315:Rapgef1
|
UTSW |
2 |
29,624,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7956:Rapgef1
|
UTSW |
2 |
29,589,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8161:Rapgef1
|
UTSW |
2 |
29,569,210 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8162:Rapgef1
|
UTSW |
2 |
29,626,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8372:Rapgef1
|
UTSW |
2 |
29,600,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8373:Rapgef1
|
UTSW |
2 |
29,600,243 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8485:Rapgef1
|
UTSW |
2 |
29,600,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8838:Rapgef1
|
UTSW |
2 |
29,627,458 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9484:Rapgef1
|
UTSW |
2 |
29,625,821 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9521:Rapgef1
|
UTSW |
2 |
29,624,291 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF005:Rapgef1
|
UTSW |
2 |
29,597,207 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTTGCCTCAACCTAAAGG -3'
(R):5'- AGGTTACACTGAGGACTGCTGG -3'
Sequencing Primer
(F):5'- ACCTAAAGGCCTCCAGGG -3'
(R):5'- TTTGCAAGGGCCAAGTTCAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation