Incidental Mutation 'R7083:Arhgef38'
| ID |
549663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef38
|
| Ensembl Gene |
ENSMUSG00000040969 |
| Gene Name |
Rho guanine nucleotide exchange factor 38 |
| Synonyms |
D630013G24Rik, 9130221D24Rik |
| MMRRC Submission |
045177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132818039-132940710 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132838197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 613
(Q613L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054105]
[ENSMUST00000147041]
|
| AlphaFold |
Q80VK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054105
AA Change: Q30L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054558
Gene: ENSMUSG00000040969
AA Change: Q30L
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
60 |
5.56e-1 |
SMART |
|
low complexity region
|
95 |
106 |
N/A |
INTRINSIC |
|
SH3
|
126 |
189 |
8.2e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147041
AA Change: Q613L
|
| SMART Domains |
Protein: ENSMUSP00000114238
Gene: ENSMUSG00000040969
AA Change: Q613L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
49 |
N/A |
INTRINSIC |
|
RhoGEF
|
98 |
284 |
2.72e-33 |
SMART |
|
low complexity region
|
296 |
312 |
N/A |
INTRINSIC |
|
BAR
|
315 |
514 |
4.8e-29 |
SMART |
|
SH3
|
584 |
643 |
5.56e-1 |
SMART |
|
low complexity region
|
678 |
689 |
N/A |
INTRINSIC |
|
SH3
|
709 |
768 |
1.95e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
T |
12: 81,607,015 (GRCm39) |
M249K |
possibly damaging |
Het |
| Arpp21 |
A |
G |
9: 112,012,612 (GRCm39) |
V70A |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,943 (GRCm39) |
N327S |
probably damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,058 (GRCm39) |
K723R |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,754,594 (GRCm39) |
L724P |
probably damaging |
Het |
| Btnl10 |
G |
T |
11: 58,809,963 (GRCm39) |
V35F |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,567,473 (GRCm39) |
T704S |
probably damaging |
Het |
| Cd4 |
T |
G |
6: 124,847,535 (GRCm39) |
S210R |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,123,579 (GRCm39) |
Q444R |
probably benign |
Het |
| Dusp26 |
A |
G |
8: 31,581,747 (GRCm39) |
|
probably benign |
Het |
| Dync1i1 |
C |
T |
6: 5,969,429 (GRCm39) |
A418V |
probably damaging |
Het |
| Fibp |
A |
G |
19: 5,513,659 (GRCm39) |
D232G |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,444,914 (GRCm39) |
T2406S |
probably damaging |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
T |
A |
1: 125,605,155 (GRCm39) |
W28R |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,773,315 (GRCm39) |
V253A |
probably benign |
Het |
| Hexim1 |
T |
G |
11: 103,007,992 (GRCm39) |
L82W |
possibly damaging |
Het |
| Hmga1 |
G |
T |
17: 27,779,945 (GRCm39) |
R49L |
possibly damaging |
Het |
| Irag2 |
A |
T |
6: 145,115,509 (GRCm39) |
N349I |
probably damaging |
Het |
| Itch |
A |
T |
2: 155,052,364 (GRCm39) |
N655Y |
probably damaging |
Het |
| Izumo2 |
A |
G |
7: 44,359,757 (GRCm39) |
E129G |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 43,841,225 (GRCm39) |
C186Y |
probably damaging |
Het |
| Lnx1 |
G |
A |
5: 74,788,846 (GRCm39) |
S31F |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,166 (GRCm39) |
I420V |
probably benign |
Het |
| Ltk |
A |
C |
2: 119,582,555 (GRCm39) |
C776G |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,874,223 (GRCm39) |
L1715R |
probably damaging |
Het |
| Med28 |
T |
C |
5: 45,680,878 (GRCm39) |
|
probably null |
Het |
| Naf1 |
GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,138 (GRCm39) |
|
probably benign |
Het |
| Nckap1l |
C |
A |
15: 103,390,551 (GRCm39) |
T774K |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,638,663 (GRCm39) |
K266E |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 77,900,587 (GRCm39) |
D584V |
probably damaging |
Het |
| Or1o1 |
T |
C |
17: 37,717,063 (GRCm39) |
V208A |
probably benign |
Het |
| Or2h15 |
T |
A |
17: 38,441,601 (GRCm39) |
T161S |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,201 (GRCm39) |
I155V |
probably benign |
Het |
| Or4n4b |
G |
A |
14: 50,536,736 (GRCm39) |
T10I |
possibly damaging |
Het |
| Or5h25 |
T |
C |
16: 58,930,400 (GRCm39) |
D191G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,825,976 (GRCm39) |
I376K |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prps1l3 |
A |
T |
12: 57,286,034 (GRCm39) |
I275L |
probably benign |
Het |
| Psg26 |
G |
A |
7: 18,213,934 (GRCm39) |
R243* |
probably null |
Het |
| Ranbp2 |
A |
G |
10: 58,315,052 (GRCm39) |
H1924R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,709,221 (GRCm39) |
D4G |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,108,722 (GRCm39) |
L1642P |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,112,384 (GRCm39) |
L1915P |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,013,037 (GRCm39) |
V319A |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,064,839 (GRCm39) |
N231S |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,165 (GRCm39) |
Q322R |
possibly damaging |
Het |
| Sting1 |
T |
C |
18: 35,867,703 (GRCm39) |
H331R |
probably damaging |
Het |
| Syde1 |
G |
T |
10: 78,422,903 (GRCm39) |
P490T |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,990,662 (GRCm39) |
I1881M |
probably damaging |
Het |
| Taf1c |
T |
C |
8: 120,327,407 (GRCm39) |
D387G |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,556 (GRCm39) |
Y2228N |
probably damaging |
Het |
| Tubgcp5 |
C |
T |
7: 55,450,443 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r44 |
T |
A |
7: 8,381,369 (GRCm39) |
I175F |
probably benign |
Het |
| Zdhhc7 |
C |
A |
8: 120,812,166 (GRCm39) |
C152F |
probably damaging |
Het |
| Zfp52 |
T |
A |
17: 21,780,392 (GRCm39) |
M80K |
possibly damaging |
Het |
| Zfp612 |
T |
C |
8: 110,815,768 (GRCm39) |
I325T |
probably damaging |
Het |
| Zmiz1 |
T |
G |
14: 25,652,372 (GRCm39) |
F597V |
probably damaging |
Het |
|
| Other mutations in Arhgef38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Arhgef38
|
APN |
3 |
132,837,812 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00533:Arhgef38
|
APN |
3 |
132,822,220 (GRCm39) |
nonsense |
probably null |
|
|
IGL03031:Arhgef38
|
APN |
3 |
132,837,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
F5770:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Arhgef38
|
UTSW |
3 |
132,866,591 (GRCm39) |
missense |
|
|
|
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0050:Arhgef38
|
UTSW |
3 |
132,837,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0076:Arhgef38
|
UTSW |
3 |
132,866,507 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0515:Arhgef38
|
UTSW |
3 |
132,855,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Arhgef38
|
UTSW |
3 |
132,843,232 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0765:Arhgef38
|
UTSW |
3 |
132,822,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Arhgef38
|
UTSW |
3 |
132,822,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1261:Arhgef38
|
UTSW |
3 |
132,866,624 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1568:Arhgef38
|
UTSW |
3 |
132,838,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1580:Arhgef38
|
UTSW |
3 |
132,839,465 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1716:Arhgef38
|
UTSW |
3 |
132,846,598 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1875:Arhgef38
|
UTSW |
3 |
132,839,501 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2118:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2119:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2122:Arhgef38
|
UTSW |
3 |
132,866,514 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2417:Arhgef38
|
UTSW |
3 |
132,852,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3832:Arhgef38
|
UTSW |
3 |
132,912,686 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4657:Arhgef38
|
UTSW |
3 |
132,940,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Arhgef38
|
UTSW |
3 |
132,846,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4732:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Arhgef38
|
UTSW |
3 |
132,838,030 (GRCm39) |
nonsense |
probably null |
|
|
R5059:Arhgef38
|
UTSW |
3 |
132,843,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Arhgef38
|
UTSW |
3 |
132,843,029 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5310:Arhgef38
|
UTSW |
3 |
132,822,227 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5820:Arhgef38
|
UTSW |
3 |
132,866,560 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5987:Arhgef38
|
UTSW |
3 |
132,912,719 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6115:Arhgef38
|
UTSW |
3 |
132,838,374 (GRCm39) |
splice site |
probably null |
|
|
R6313:Arhgef38
|
UTSW |
3 |
132,940,469 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6339:Arhgef38
|
UTSW |
3 |
132,839,423 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6356:Arhgef38
|
UTSW |
3 |
132,846,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6648:Arhgef38
|
UTSW |
3 |
132,838,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Arhgef38
|
UTSW |
3 |
132,839,388 (GRCm39) |
start gained |
probably benign |
|
|
R7561:Arhgef38
|
UTSW |
3 |
132,866,489 (GRCm39) |
missense |
|
|
|
R7769:Arhgef38
|
UTSW |
3 |
132,855,383 (GRCm39) |
missense |
unknown |
|
|
R8050:Arhgef38
|
UTSW |
3 |
132,843,323 (GRCm39) |
nonsense |
probably null |
|
|
R8471:Arhgef38
|
UTSW |
3 |
132,940,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Arhgef38
|
UTSW |
3 |
132,837,832 (GRCm39) |
missense |
unknown |
|
|
R9151:Arhgef38
|
UTSW |
3 |
132,912,706 (GRCm39) |
missense |
|
|
|
R9154:Arhgef38
|
UTSW |
3 |
132,837,924 (GRCm39) |
missense |
unknown |
|
|
R9263:Arhgef38
|
UTSW |
3 |
132,866,529 (GRCm39) |
missense |
|
|
|
R9367:Arhgef38
|
UTSW |
3 |
132,847,998 (GRCm39) |
missense |
unknown |
|
|
R9628:Arhgef38
|
UTSW |
3 |
132,838,025 (GRCm39) |
missense |
unknown |
|
|
R9799:Arhgef38
|
UTSW |
3 |
132,855,391 (GRCm39) |
missense |
unknown |
|
|
Z1177:Arhgef38
|
UTSW |
3 |
132,912,722 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCTGTTGTCTGCATCCACC -3'
(R):5'- GGTGTCACTGTACGTCCATC -3'
Sequencing Primer
(F):5'- AAGGAGGAGTACACGTAGCCTTTTAC -3'
(R):5'- TGTACGTCCATCTGAATCAGGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation