Incidental Mutation 'R9019:Arhgef19'
| ID |
686595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef19
|
| Ensembl Gene |
ENSMUSG00000028919 |
| Gene Name |
Rho guanine nucleotide exchange factor 19 |
| Synonyms |
WGEF, 6430573B13Rik |
| MMRRC Submission |
068849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R9019 (G1)
|
| Quality Score |
195.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140966810-140984875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140973738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 75
(P75L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006618
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006618]
[ENSMUST00000125392]
[ENSMUST00000135623]
[ENSMUST00000138096]
[ENSMUST00000141834]
[ENSMUST00000147903]
|
| AlphaFold |
Q8BWA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006618
AA Change: P75L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000006618
Gene: ENSMUSG00000028919
AA Change: P75L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
331 |
N/A |
INTRINSIC |
|
RhoGEF
|
380 |
559 |
5.51e-43 |
SMART |
|
PH
|
593 |
706 |
8.86e-6 |
SMART |
|
SH3
|
718 |
775 |
5.16e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125392
AA Change: P75L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135623
AA Change: P75L
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119846
Gene: ENSMUSG00000028919
AA Change: P75L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141834
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147903
AA Change: P11L
|
| SMART Domains |
Protein: ENSMUSP00000120088
Gene: ENSMUSG00000028919
AA Change: P11L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
147 |
173 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,011,522 (GRCm39) |
T1174S |
|
Het |
| Aoc2 |
C |
T |
11: 101,216,262 (GRCm39) |
P115L |
possibly damaging |
Het |
| Atad3a |
A |
G |
4: 155,838,052 (GRCm39) |
V240A |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,508,973 (GRCm39) |
L317* |
probably null |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,700 (GRCm39) |
S89P |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,790,607 (GRCm39) |
L166* |
probably null |
Het |
| Ccdc27 |
A |
G |
4: 154,124,014 (GRCm39) |
V173A |
unknown |
Het |
| Ccl8 |
T |
C |
11: 82,006,877 (GRCm39) |
V30A |
probably benign |
Het |
| Cdc16 |
C |
T |
8: 13,831,501 (GRCm39) |
A578V |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,365 (GRCm39) |
Y423C |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,519 (GRCm39) |
D270G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,532,730 (GRCm39) |
E1656G |
unknown |
Het |
| Eppk1 |
A |
G |
15: 75,992,472 (GRCm39) |
F1470L |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,270,135 (GRCm39) |
D202V |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,811,840 (GRCm39) |
T330I |
probably benign |
Het |
| Gm36864 |
A |
T |
7: 43,887,028 (GRCm39) |
Q307L |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,426,946 (GRCm39) |
E38G |
probably damaging |
Het |
| Gm6871 |
A |
T |
7: 41,195,262 (GRCm39) |
C492S |
probably damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,638 (GRCm39) |
Y285H |
probably benign |
Het |
| Htt |
T |
A |
5: 35,023,920 (GRCm39) |
F1723I |
probably damaging |
Het |
| Il21r |
G |
A |
7: 125,231,472 (GRCm39) |
S300N |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,605,856 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,425,754 (GRCm39) |
S1100P |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,415 (GRCm39) |
I269T |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,488,208 (GRCm39) |
A4635V |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,847,546 (GRCm39) |
D38E |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,314,454 (GRCm39) |
L161R |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,914 (GRCm39) |
I923N |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,200 (GRCm39) |
S147P |
probably damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nsmaf |
A |
T |
4: 6,418,523 (GRCm39) |
S427R |
probably damaging |
Het |
| Or8g53 |
G |
T |
9: 39,684,038 (GRCm39) |
D19E |
probably benign |
Het |
| Pdcd11 |
G |
T |
19: 47,101,658 (GRCm39) |
G948C |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,612 (GRCm39) |
Y1508H |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,753,564 (GRCm39) |
A105E |
probably benign |
Het |
| Prr23a3 |
T |
C |
9: 98,747,213 (GRCm39) |
S56P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,077 (GRCm39) |
E705G |
probably damaging |
Het |
| Sostdc1 |
A |
T |
12: 36,364,431 (GRCm39) |
N47Y |
probably benign |
Het |
| Speg |
T |
C |
1: 75,405,882 (GRCm39) |
Y3029H |
probably damaging |
Het |
| Srd5a1 |
G |
A |
13: 69,748,413 (GRCm39) |
R129* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,605,586 (GRCm39) |
S224P |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,999,618 (GRCm39) |
E2337G |
possibly damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,958 (GRCm39) |
V32L |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,192 (GRCm39) |
I1263T |
possibly damaging |
Het |
| Ttc39d |
C |
T |
17: 80,523,349 (GRCm39) |
R3W |
probably benign |
Het |
| Xylt1 |
T |
C |
7: 117,250,038 (GRCm39) |
|
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,911,021 (GRCm39) |
C192S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,761,119 (GRCm39) |
G129D |
probably damaging |
Het |
|
| Other mutations in Arhgef19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Arhgef19
|
APN |
4 |
140,976,294 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02037:Arhgef19
|
APN |
4 |
140,973,707 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03049:Arhgef19
|
APN |
4 |
140,981,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03071:Arhgef19
|
APN |
4 |
140,976,313 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03098:Arhgef19
|
UTSW |
4 |
140,974,879 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0271:Arhgef19
|
UTSW |
4 |
140,977,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0319:Arhgef19
|
UTSW |
4 |
140,983,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1572:Arhgef19
|
UTSW |
4 |
140,982,065 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1633:Arhgef19
|
UTSW |
4 |
140,965,871 (GRCm39) |
unclassified |
probably benign |
|
|
R1735:Arhgef19
|
UTSW |
4 |
140,976,929 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1752:Arhgef19
|
UTSW |
4 |
140,978,354 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1823:Arhgef19
|
UTSW |
4 |
140,976,457 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1889:Arhgef19
|
UTSW |
4 |
140,976,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Arhgef19
|
UTSW |
4 |
140,978,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2280:Arhgef19
|
UTSW |
4 |
140,973,827 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3430:Arhgef19
|
UTSW |
4 |
140,984,111 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3954:Arhgef19
|
UTSW |
4 |
140,983,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4158:Arhgef19
|
UTSW |
4 |
140,973,660 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4160:Arhgef19
|
UTSW |
4 |
140,973,660 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4995:Arhgef19
|
UTSW |
4 |
140,974,826 (GRCm39) |
splice site |
probably null |
|
|
R5031:Arhgef19
|
UTSW |
4 |
140,978,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5782:Arhgef19
|
UTSW |
4 |
140,983,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Arhgef19
|
UTSW |
4 |
140,976,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7614:Arhgef19
|
UTSW |
4 |
140,984,090 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8356:Arhgef19
|
UTSW |
4 |
140,977,926 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8456:Arhgef19
|
UTSW |
4 |
140,977,926 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8531:Arhgef19
|
UTSW |
4 |
140,976,903 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8876:Arhgef19
|
UTSW |
4 |
140,975,193 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8931:Arhgef19
|
UTSW |
4 |
140,976,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8947:Arhgef19
|
UTSW |
4 |
140,973,618 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9036:Arhgef19
|
UTSW |
4 |
140,976,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Arhgef19
|
UTSW |
4 |
140,976,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTACTATATCTGGGTCTGACACC -3'
(R):5'- GACTTCTCTGAGCCACTGTG -3'
Sequencing Primer
(F):5'- AATGGACTGTGGGCCACCTG -3'
(R):5'- CACTGTGGCTGGCCCTG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation