Incidental Mutation 'R5212:Arhgef7'
| ID |
403182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef7
|
| Ensembl Gene |
ENSMUSG00000031511 |
| Gene Name |
Rho guanine nucleotide exchange factor |
| Synonyms |
betaPix-c, betaPix, Pak interacting exchange factor, p85SPR, betaPix-b, cool-1, Cool, PIX |
| MMRRC Submission |
042786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5212 (G1)
|
| Quality Score |
209 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
11778053-11885219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11778388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 46
(E46G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110909]
[ENSMUST00000210104]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000033908
|
| SMART Domains |
Protein: ENSMUSP00000033908
Gene: ENSMUSG00000031511
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
3 |
107 |
7.28e-13 |
SMART |
|
SH3
|
166 |
221 |
9.97e-26 |
SMART |
|
RhoGEF
|
254 |
429 |
8.36e-43 |
SMART |
|
PH
|
459 |
559 |
3.77e-9 |
SMART |
|
low complexity region
|
600 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
672 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110909
AA Change: E46G
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: E46G
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
3 |
107 |
7.28e-13 |
SMART |
|
Pfam:RhoGEF67_u1
|
117 |
163 |
8e-21 |
PFAM |
|
SH3
|
166 |
221 |
9.97e-26 |
SMART |
|
RhoGEF
|
254 |
429 |
8.36e-43 |
SMART |
|
PH
|
459 |
559 |
3.77e-9 |
SMART |
|
Pfam:RhoGEF67_u2
|
611 |
711 |
2.3e-53 |
PFAM |
|
low complexity region
|
726 |
757 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210104
AA Change: E46G
PolyPhen 2
Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.1189 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (58/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,771,611 (GRCm39) |
S267T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 109,998,052 (GRCm39) |
D1514G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,584,980 (GRCm39) |
D896V |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
| Arglu1 |
T |
A |
8: 8,733,843 (GRCm39) |
R158W |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,613,055 (GRCm39) |
V1172A |
probably benign |
Het |
| Bhlhe23 |
T |
A |
2: 180,417,886 (GRCm39) |
K217N |
probably damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Ccp110 |
C |
T |
7: 118,328,919 (GRCm39) |
A845V |
probably damaging |
Het |
| Cd63 |
A |
G |
10: 128,747,722 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,723,072 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
A |
5: 123,768,744 (GRCm39) |
R618S |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,843,739 (GRCm39) |
F1731L |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,390,923 (GRCm39) |
K728Q |
possibly damaging |
Het |
| Emc2 |
A |
G |
15: 43,374,240 (GRCm39) |
E180G |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,440,725 (GRCm39) |
I394F |
probably benign |
Het |
| Fnta |
A |
G |
8: 26,499,735 (GRCm39) |
I155T |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,685 (GRCm39) |
E331V |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,684 (GRCm39) |
E331D |
probably benign |
Het |
| Gas2l1 |
A |
T |
11: 5,011,108 (GRCm39) |
C574S |
probably benign |
Het |
| Ggnbp2 |
T |
A |
11: 84,744,847 (GRCm39) |
|
probably benign |
Het |
| Gm3371 |
A |
C |
14: 44,641,111 (GRCm39) |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,749,016 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
A |
C |
11: 57,722,273 (GRCm39) |
F114V |
probably damaging |
Het |
| Itga4 |
A |
C |
2: 79,110,939 (GRCm39) |
H259P |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,262,245 (GRCm39) |
H183L |
probably benign |
Het |
| Kifbp |
A |
T |
10: 62,398,908 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,402 (GRCm39) |
A369D |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,484 (GRCm39) |
S301G |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,678,504 (GRCm39) |
T248A |
probably benign |
Het |
| Madcam1 |
C |
G |
10: 79,504,179 (GRCm39) |
T255S |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,929,775 (GRCm39) |
Y71H |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,455,850 (GRCm39) |
I107V |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,547 (GRCm39) |
F328S |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,944,373 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,063,342 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
A |
T |
14: 76,370,538 (GRCm39) |
N413I |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,178,793 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,698,279 (GRCm39) |
G419R |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,793,221 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,839,045 (GRCm39) |
A68V |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,212 (GRCm39) |
M776K |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,450,238 (GRCm39) |
Y63N |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,319,178 (GRCm39) |
E320G |
probably damaging |
Het |
| Spaca6 |
C |
A |
17: 18,058,656 (GRCm39) |
P68Q |
probably benign |
Het |
| Tdrd3 |
G |
C |
14: 87,743,651 (GRCm39) |
R527P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,377,492 (GRCm39) |
Q202K |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,330,460 (GRCm39) |
V69A |
probably damaging |
Het |
| Trav6-1 |
A |
T |
14: 52,876,161 (GRCm39) |
Q27L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,731,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,619,945 (GRCm39) |
I15908V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,628,019 (GRCm39) |
D12931V |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,902 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,578,645 (GRCm39) |
N69S |
probably benign |
Het |
|
| Other mutations in Arhgef7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Arhgef7
|
APN |
8 |
11,832,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01481:Arhgef7
|
APN |
8 |
11,865,256 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02376:Arhgef7
|
APN |
8 |
11,867,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02812:Arhgef7
|
APN |
8 |
11,831,245 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02813:Arhgef7
|
APN |
8 |
11,850,767 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02864:Arhgef7
|
APN |
8 |
11,865,247 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Mental_fitness
|
UTSW |
8 |
11,850,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Arhgef7
|
UTSW |
8 |
11,850,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0157:Arhgef7
|
UTSW |
8 |
11,835,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Arhgef7
|
UTSW |
8 |
11,874,701 (GRCm39) |
nonsense |
probably null |
|
|
R0448:Arhgef7
|
UTSW |
8 |
11,869,659 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0973:Arhgef7
|
UTSW |
8 |
11,869,659 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1491:Arhgef7
|
UTSW |
8 |
11,869,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1566:Arhgef7
|
UTSW |
8 |
11,832,620 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1601:Arhgef7
|
UTSW |
8 |
11,832,638 (GRCm39) |
splice site |
probably null |
|
|
R1716:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1717:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1717:Arhgef7
|
UTSW |
8 |
11,858,712 (GRCm39) |
unclassified |
probably benign |
|
|
R1719:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1901:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1902:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1933:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1934:Arhgef7
|
UTSW |
8 |
11,858,713 (GRCm39) |
splice site |
probably null |
|
|
R1956:Arhgef7
|
UTSW |
8 |
11,855,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Arhgef7
|
UTSW |
8 |
11,778,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2273:Arhgef7
|
UTSW |
8 |
11,865,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2275:Arhgef7
|
UTSW |
8 |
11,865,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2306:Arhgef7
|
UTSW |
8 |
11,862,680 (GRCm39) |
nonsense |
probably null |
|
|
R2375:Arhgef7
|
UTSW |
8 |
11,864,995 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4530:Arhgef7
|
UTSW |
8 |
11,850,802 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4805:Arhgef7
|
UTSW |
8 |
11,881,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5204:Arhgef7
|
UTSW |
8 |
11,850,775 (GRCm39) |
nonsense |
probably null |
|
|
R5256:Arhgef7
|
UTSW |
8 |
11,850,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Arhgef7
|
UTSW |
8 |
11,835,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Arhgef7
|
UTSW |
8 |
11,872,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Arhgef7
|
UTSW |
8 |
11,883,054 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6679:Arhgef7
|
UTSW |
8 |
11,874,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7337:Arhgef7
|
UTSW |
8 |
11,835,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Arhgef7
|
UTSW |
8 |
11,850,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7684:Arhgef7
|
UTSW |
8 |
11,869,663 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7793:Arhgef7
|
UTSW |
8 |
11,874,507 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8762:Arhgef7
|
UTSW |
8 |
11,831,216 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8955:Arhgef7
|
UTSW |
8 |
11,808,451 (GRCm39) |
start gained |
probably benign |
|
|
R9022:Arhgef7
|
UTSW |
8 |
11,850,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9095:Arhgef7
|
UTSW |
8 |
11,835,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Arhgef7
|
UTSW |
8 |
11,867,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9432:Arhgef7
|
UTSW |
8 |
11,869,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCCGCTAATGAAAAGGCAC -3'
(R):5'- TCCCAACTTCACGTTAGGGTG -3'
Sequencing Primer
(F):5'- AGGCACTTGACAGCGGG -3'
(R):5'- TTCACGTTAGGGTGGAGCAGAAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation