Incidental Mutation 'R1647:Rasgrf1'
| ID |
173961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrf1
|
| Ensembl Gene |
ENSMUSG00000032356 |
| Gene Name |
RAS protein-specific guanine nucleotide-releasing factor 1 |
| Synonyms |
Grf1, CDC25Mm, Grfbeta, CDC25 |
| MMRRC Submission |
039683-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
89791961-89909030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89835973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 234
(I234V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034912]
|
| AlphaFold |
P27671 |
| PDB Structure |
Crystal Structure of the Cdc25 domain of RasGRF1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034912
AA Change: I234V
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034912
Gene: ENSMUSG00000032356
AA Change: I234V
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
23 |
132 |
2.48e-18 |
SMART |
|
Blast:RhoGEF
|
146 |
196 |
4e-6 |
BLAST |
|
IQ
|
205 |
227 |
5.27e0 |
SMART |
|
RhoGEF
|
248 |
429 |
1.96e-57 |
SMART |
|
PH
|
461 |
590 |
1.51e-8 |
SMART |
|
RasGEFN
|
634 |
767 |
3.07e-10 |
SMART |
|
low complexity region
|
844 |
855 |
N/A |
INTRINSIC |
|
RasGEFN
|
869 |
997 |
5.86e-7 |
SMART |
|
RasGEF
|
1023 |
1260 |
1.85e-99 |
SMART |
|
| Meta Mutation Damage Score |
0.1457 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
97% (70/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygotes for null mutations (and heterozygotes with a paternally inherited mutant allele) exhibit reduced postnatal growth, low insulin and IGF I levels, glucose intolerance, beta-cell hypoplasia, impaired long-term synaptic plasticity, and impaired hippocampal-dependent learning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,768 (GRCm39) |
S184P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
| Anxa10 |
T |
C |
8: 62,545,618 (GRCm39) |
D38G |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Baz1a |
G |
A |
12: 55,021,983 (GRCm39) |
R100C |
probably damaging |
Het |
| Ceacam18 |
A |
C |
7: 43,288,689 (GRCm39) |
T147P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,928,461 (GRCm39) |
W192R |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,019,150 (GRCm39) |
A202E |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,710,184 (GRCm39) |
|
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
| Etaa1 |
C |
A |
11: 17,896,492 (GRCm39) |
G542C |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,641,522 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
| G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
| Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
| Il22ra1 |
C |
A |
4: 135,477,771 (GRCm39) |
H281N |
probably damaging |
Het |
| Inpp4b |
G |
T |
8: 82,583,403 (GRCm39) |
|
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,667,652 (GRCm39) |
N662D |
probably benign |
Het |
| Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
| Lamb2 |
G |
A |
9: 108,358,622 (GRCm39) |
|
probably null |
Het |
| Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
| Lnx2 |
C |
A |
5: 146,964,152 (GRCm39) |
V468L |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,006,509 (GRCm39) |
C1205* |
probably null |
Het |
| Lsm4 |
A |
G |
8: 71,130,456 (GRCm39) |
Y25C |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Miip |
T |
C |
4: 147,949,691 (GRCm39) |
S174G |
probably benign |
Het |
| Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 87,980,064 (GRCm39) |
A14V |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,537,650 (GRCm39) |
I2828F |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,602,895 (GRCm39) |
Q167L |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,540,432 (GRCm39) |
Y854H |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
| Pate9 |
A |
G |
9: 36,445,736 (GRCm39) |
S72P |
possibly damaging |
Het |
| Phldb1 |
G |
A |
9: 44,626,730 (GRCm39) |
P572S |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,683,616 (GRCm39) |
N1683Y |
probably benign |
Het |
| Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,243,784 (GRCm39) |
I553F |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,854,920 (GRCm39) |
M187V |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
| Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
| Sdhaf3 |
T |
C |
6: 6,956,126 (GRCm39) |
Y34H |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
| Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
| Slc45a3 |
G |
A |
1: 131,905,262 (GRCm39) |
G81D |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,041 (GRCm39) |
N416S |
probably benign |
Het |
| Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,191,641 (GRCm39) |
V931A |
probably benign |
Het |
| Tmem190 |
A |
G |
7: 4,787,120 (GRCm39) |
D108G |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
| Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
probably damaging |
Het |
|
| Other mutations in Rasgrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00517:Rasgrf1
|
APN |
9 |
89,852,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00763:Rasgrf1
|
APN |
9 |
89,853,073 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01336:Rasgrf1
|
APN |
9 |
89,873,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01710:Rasgrf1
|
APN |
9 |
89,873,745 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01807:Rasgrf1
|
APN |
9 |
89,873,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01939:Rasgrf1
|
APN |
9 |
89,856,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02453:Rasgrf1
|
APN |
9 |
89,826,813 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02961:Rasgrf1
|
APN |
9 |
89,863,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03009:Rasgrf1
|
APN |
9 |
89,873,756 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03369:Rasgrf1
|
APN |
9 |
89,892,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03373:Rasgrf1
|
APN |
9 |
89,899,084 (GRCm39) |
splice site |
probably benign |
|
|
Malenkiy
|
UTSW |
9 |
89,892,537 (GRCm39) |
splice site |
probably null |
|
|
Pigeon
|
UTSW |
9 |
89,849,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Rasgrf1
|
UTSW |
9 |
89,797,626 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0234:Rasgrf1
|
UTSW |
9 |
89,891,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Rasgrf1
|
UTSW |
9 |
89,866,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Rasgrf1
|
UTSW |
9 |
89,797,535 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0730:Rasgrf1
|
UTSW |
9 |
89,833,062 (GRCm39) |
splice site |
probably benign |
|
|
R0835:Rasgrf1
|
UTSW |
9 |
89,882,824 (GRCm39) |
missense |
probably benign |
|
|
R1432:Rasgrf1
|
UTSW |
9 |
89,894,853 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1717:Rasgrf1
|
UTSW |
9 |
89,835,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1933:Rasgrf1
|
UTSW |
9 |
89,835,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Rasgrf1
|
UTSW |
9 |
89,835,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2187:Rasgrf1
|
UTSW |
9 |
89,876,888 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2240:Rasgrf1
|
UTSW |
9 |
89,858,815 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2940:Rasgrf1
|
UTSW |
9 |
89,873,767 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3949:Rasgrf1
|
UTSW |
9 |
89,863,797 (GRCm39) |
splice site |
probably benign |
|
|
R4751:Rasgrf1
|
UTSW |
9 |
89,894,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Rasgrf1
|
UTSW |
9 |
89,792,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Rasgrf1
|
UTSW |
9 |
89,877,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4910:Rasgrf1
|
UTSW |
9 |
89,858,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4961:Rasgrf1
|
UTSW |
9 |
89,826,922 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5270:Rasgrf1
|
UTSW |
9 |
89,908,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5320:Rasgrf1
|
UTSW |
9 |
89,902,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5602:Rasgrf1
|
UTSW |
9 |
89,793,624 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5659:Rasgrf1
|
UTSW |
9 |
89,866,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Rasgrf1
|
UTSW |
9 |
89,903,437 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6074:Rasgrf1
|
UTSW |
9 |
89,835,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6400:Rasgrf1
|
UTSW |
9 |
89,873,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6596:Rasgrf1
|
UTSW |
9 |
89,894,847 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6603:Rasgrf1
|
UTSW |
9 |
89,792,310 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6647:Rasgrf1
|
UTSW |
9 |
89,892,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6813:Rasgrf1
|
UTSW |
9 |
89,892,537 (GRCm39) |
splice site |
probably null |
|
|
R7136:Rasgrf1
|
UTSW |
9 |
89,873,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Rasgrf1
|
UTSW |
9 |
89,884,414 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7175:Rasgrf1
|
UTSW |
9 |
89,862,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7202:Rasgrf1
|
UTSW |
9 |
89,899,125 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7219:Rasgrf1
|
UTSW |
9 |
89,866,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Rasgrf1
|
UTSW |
9 |
89,876,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Rasgrf1
|
UTSW |
9 |
89,863,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7764:Rasgrf1
|
UTSW |
9 |
89,876,747 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8210:Rasgrf1
|
UTSW |
9 |
89,793,675 (GRCm39) |
missense |
unknown |
|
|
R8421:Rasgrf1
|
UTSW |
9 |
89,849,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Rasgrf1
|
UTSW |
9 |
89,797,638 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8526:Rasgrf1
|
UTSW |
9 |
89,856,901 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8697:Rasgrf1
|
UTSW |
9 |
89,877,055 (GRCm39) |
missense |
probably benign |
|
|
R9133:Rasgrf1
|
UTSW |
9 |
89,793,600 (GRCm39) |
missense |
probably benign |
|
|
R9153:Rasgrf1
|
UTSW |
9 |
89,826,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Rasgrf1
|
UTSW |
9 |
89,883,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Rasgrf1
|
UTSW |
9 |
89,884,460 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9468:Rasgrf1
|
UTSW |
9 |
89,880,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9498:Rasgrf1
|
UTSW |
9 |
89,826,921 (GRCm39) |
missense |
probably benign |
|
|
R9747:Rasgrf1
|
UTSW |
9 |
89,877,047 (GRCm39) |
missense |
probably benign |
|
|
R9779:Rasgrf1
|
UTSW |
9 |
89,873,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Rasgrf1
|
UTSW |
9 |
89,832,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATACAGCGATGTTCCAGATCC -3'
(R):5'- CCCTTCCGCTTACCTGTTCAGAAAG -3'
Sequencing Primer
(F):5'- GGCCTGCCCTATACATATCAG -3'
(R):5'- CCTGTTCAGAAAGATACTGCTGAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation