Incidental Mutation 'R9559:Arhgef37'
| ID |
720939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef37
|
| Ensembl Gene |
ENSMUSG00000045094 |
| Gene Name |
Rho guanine nucleotide exchange factor 37 |
| Synonyms |
4933429F08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R9559 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61624728-61669665 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 61640267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171629]
[ENSMUST00000171629]
[ENSMUST00000171629]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000171629
|
| SMART Domains |
Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
34 |
212 |
2.62e-35 |
SMART |
|
Pfam:BAR
|
311 |
444 |
5.6e-10 |
PFAM |
|
SH3
|
509 |
568 |
8.06e-1 |
SMART |
|
SH3
|
606 |
665 |
2.56e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171629
|
| SMART Domains |
Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
34 |
212 |
2.62e-35 |
SMART |
|
Pfam:BAR
|
311 |
444 |
5.6e-10 |
PFAM |
|
SH3
|
509 |
568 |
8.06e-1 |
SMART |
|
SH3
|
606 |
665 |
2.56e-14 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171629
|
| SMART Domains |
Protein: ENSMUSP00000130560
Gene: ENSMUSG00000045094
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
34 |
212 |
2.62e-35 |
SMART |
|
Pfam:BAR
|
311 |
444 |
5.6e-10 |
PFAM |
|
SH3
|
509 |
568 |
8.06e-1 |
SMART |
|
SH3
|
606 |
665 |
2.56e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,021,019 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
C |
T |
12: 112,749,782 (GRCm39) |
|
probably null |
Het |
| Asb14 |
T |
C |
14: 26,637,052 (GRCm39) |
V598A |
possibly damaging |
Het |
| Baz1b |
T |
A |
5: 135,216,532 (GRCm39) |
F10Y |
probably benign |
Het |
| Bbc3 |
T |
C |
7: 16,047,660 (GRCm39) |
V128A |
probably benign |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,946 (GRCm39) |
Y76F |
possibly damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,939,459 (GRCm39) |
|
probably null |
Het |
| Cfh |
G |
T |
1: 140,030,275 (GRCm39) |
P884Q |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,613,086 (GRCm39) |
Y479C |
probably damaging |
Het |
| Col18a1 |
C |
T |
10: 76,913,630 (GRCm39) |
G477E |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Csmd2 |
G |
T |
4: 128,438,561 (GRCm39) |
G3047C |
|
Het |
| Cyb5r3 |
C |
A |
15: 83,043,123 (GRCm39) |
E190* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,650,951 (GRCm39) |
V983D |
probably benign |
Het |
| Fcer1a |
T |
G |
1: 173,052,884 (GRCm39) |
Y104S |
possibly damaging |
Het |
| Fer1l6 |
A |
G |
15: 58,429,759 (GRCm39) |
T169A |
possibly damaging |
Het |
| Gimap9 |
A |
T |
6: 48,655,134 (GRCm39) |
K240N |
probably benign |
Het |
| Gmeb1 |
A |
C |
4: 131,953,140 (GRCm39) |
V542G |
probably benign |
Het |
| Grb10 |
C |
A |
11: 11,895,535 (GRCm39) |
R318L |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,947,054 (GRCm39) |
D385V |
possibly damaging |
Het |
| Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
| Il18r1 |
T |
A |
1: 40,528,793 (GRCm39) |
I279K |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm4b |
T |
C |
17: 56,693,228 (GRCm39) |
L355P |
probably damaging |
Het |
| Kif26a |
C |
T |
12: 112,142,004 (GRCm39) |
R753W |
probably damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,178 (GRCm39) |
T33I |
probably damaging |
Het |
| Mettl17 |
G |
A |
14: 52,129,009 (GRCm39) |
|
probably null |
Het |
| Mov10 |
A |
G |
3: 104,708,277 (GRCm39) |
F491L |
|
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Nck2 |
T |
C |
1: 43,593,207 (GRCm39) |
V138A |
probably damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,509 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or5ac24 |
C |
A |
16: 59,165,368 (GRCm39) |
G232V |
probably damaging |
Het |
| Or5ak24 |
A |
C |
2: 85,260,753 (GRCm39) |
V140G |
possibly damaging |
Het |
| Or7e173 |
A |
G |
9: 19,939,216 (GRCm39) |
V6A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,882,027 (GRCm39) |
V39A |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,899,017 (GRCm39) |
H998R |
probably damaging |
Het |
| Prb1a |
G |
A |
6: 132,184,388 (GRCm39) |
S415F |
unknown |
Het |
| Prl3d1 |
C |
T |
13: 27,280,470 (GRCm39) |
T73I |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,137,921 (GRCm39) |
L250P |
probably damaging |
Het |
| Scyl3 |
T |
C |
1: 163,779,773 (GRCm39) |
I580T |
probably benign |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,585,041 (GRCm39) |
Q14L |
probably benign |
Het |
| Slc22a12 |
T |
A |
19: 6,587,686 (GRCm39) |
N423Y |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,473,056 (GRCm39) |
S951T |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,954,926 (GRCm39) |
P195S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,613,498 (GRCm39) |
F272S |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,358,053 (GRCm39) |
I454F |
probably benign |
Het |
| Zfp112 |
G |
T |
7: 23,826,108 (GRCm39) |
C696F |
probably damaging |
Het |
|
| Other mutations in Arhgef37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Arhgef37
|
APN |
18 |
61,656,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00801:Arhgef37
|
APN |
18 |
61,632,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01146:Arhgef37
|
APN |
18 |
61,651,081 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02052:Arhgef37
|
APN |
18 |
61,632,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02489:Arhgef37
|
APN |
18 |
61,639,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03236:Arhgef37
|
APN |
18 |
61,656,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Arhgef37
|
UTSW |
18 |
61,641,860 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0746:Arhgef37
|
UTSW |
18 |
61,651,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1843:Arhgef37
|
UTSW |
18 |
61,651,121 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1934:Arhgef37
|
UTSW |
18 |
61,657,014 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1980:Arhgef37
|
UTSW |
18 |
61,641,767 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2012:Arhgef37
|
UTSW |
18 |
61,637,427 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2237:Arhgef37
|
UTSW |
18 |
61,637,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3024:Arhgef37
|
UTSW |
18 |
61,634,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4864:Arhgef37
|
UTSW |
18 |
61,627,996 (GRCm39) |
missense |
probably benign |
|
|
R4876:Arhgef37
|
UTSW |
18 |
61,631,310 (GRCm39) |
nonsense |
probably null |
|
|
R5024:Arhgef37
|
UTSW |
18 |
61,639,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5050:Arhgef37
|
UTSW |
18 |
61,637,402 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5512:Arhgef37
|
UTSW |
18 |
61,632,845 (GRCm39) |
nonsense |
probably null |
|
|
R5611:Arhgef37
|
UTSW |
18 |
61,640,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6051:Arhgef37
|
UTSW |
18 |
61,640,345 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6488:Arhgef37
|
UTSW |
18 |
61,651,123 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6612:Arhgef37
|
UTSW |
18 |
61,627,952 (GRCm39) |
missense |
probably benign |
|
|
R7117:Arhgef37
|
UTSW |
18 |
61,637,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7351:Arhgef37
|
UTSW |
18 |
61,631,286 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7426:Arhgef37
|
UTSW |
18 |
61,637,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Arhgef37
|
UTSW |
18 |
61,637,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7992:Arhgef37
|
UTSW |
18 |
61,638,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8493:Arhgef37
|
UTSW |
18 |
61,640,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8936:Arhgef37
|
UTSW |
18 |
61,656,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9000:Arhgef37
|
UTSW |
18 |
61,637,333 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9053:Arhgef37
|
UTSW |
18 |
61,641,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Arhgef37
|
UTSW |
18 |
61,651,072 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9490:Arhgef37
|
UTSW |
18 |
61,641,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGCTACTGCTTTGGAAGAGGC -3'
(R):5'- ACTTTGGTCACCCACAGTGC -3'
Sequencing Primer
(F):5'- CTGGGAACTGTTCAGACTGC -3'
(R):5'- ACAGTGCCTTGTCTTCCGTG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation