Incidental Mutation 'R5283:Plekhg1'
| ID |
402883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhg1
|
| Ensembl Gene |
ENSMUSG00000040624 |
| Gene Name |
pleckstrin homology domain containing, family G (with RhoGef domain) member 1 |
| Synonyms |
D10Ertd733e |
| MMRRC Submission |
042868-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R5283 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3906654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 524
(V524I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: V524I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: V524I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
RhoGEF
|
116 |
291 |
4.17e-52 |
SMART |
|
PH
|
323 |
417 |
2.54e-6 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120274
AA Change: V524I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: V524I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
30 |
N/A |
INTRINSIC |
|
RhoGEF
|
116 |
291 |
4.17e-52 |
SMART |
|
PH
|
323 |
417 |
2.54e-6 |
SMART |
|
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
1151 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1186 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136671
AA Change: V579I
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: V579I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
RhoGEF
|
172 |
347 |
4.17e-52 |
SMART |
|
PH
|
379 |
473 |
2.54e-6 |
SMART |
|
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
1207 |
1218 |
N/A |
INTRINSIC |
|
low complexity region
|
1242 |
1253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141367
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154727
AA Change: V378I
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: V378I
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
4 |
146 |
2.25e-25 |
SMART |
|
PH
|
178 |
272 |
2.54e-6 |
SMART |
|
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
1006 |
1017 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1052 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
T |
1: 74,323,165 (GRCm39) |
E53K |
possibly damaging |
Het |
| Amotl1 |
T |
C |
9: 14,469,780 (GRCm39) |
E651G |
probably damaging |
Het |
| Ankrd11 |
A |
C |
8: 123,610,921 (GRCm39) |
V2655G |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,757,683 (GRCm39) |
V434M |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,306,611 (GRCm39) |
Y150C |
probably damaging |
Het |
| Ccdc13 |
T |
A |
9: 121,637,254 (GRCm39) |
D75V |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crh |
T |
C |
3: 19,748,171 (GRCm39) |
H157R |
probably damaging |
Het |
| Cstdc6 |
T |
C |
16: 36,142,205 (GRCm39) |
D57G |
probably damaging |
Het |
| Dpp4 |
G |
A |
2: 62,190,680 (GRCm39) |
T392I |
probably damaging |
Het |
| Ehd3 |
G |
T |
17: 74,127,498 (GRCm39) |
A144S |
probably benign |
Het |
| Fnip2 |
A |
T |
3: 79,373,015 (GRCm39) |
I1021N |
probably damaging |
Het |
| Fus |
T |
A |
7: 127,584,719 (GRCm39) |
|
probably benign |
Het |
| Glo1 |
T |
C |
17: 30,819,047 (GRCm39) |
T92A |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15130 |
A |
C |
2: 110,965,754 (GRCm39) |
M165R |
unknown |
Het |
| Gon4l |
T |
C |
3: 88,794,897 (GRCm39) |
L700P |
probably damaging |
Het |
| Grm1 |
C |
A |
10: 10,608,936 (GRCm39) |
D566Y |
possibly damaging |
Het |
| Guca1b |
T |
C |
17: 47,702,195 (GRCm39) |
|
probably benign |
Het |
| Has3 |
A |
G |
8: 107,600,747 (GRCm39) |
M70V |
probably damaging |
Het |
| Hydin |
G |
T |
8: 111,178,612 (GRCm39) |
C1069F |
possibly damaging |
Het |
| Ints1 |
A |
C |
5: 139,750,137 (GRCm39) |
L920R |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,381,297 (GRCm39) |
I54V |
probably benign |
Het |
| Kpna2 |
G |
A |
11: 106,881,658 (GRCm39) |
T324I |
probably damaging |
Het |
| Lrr1 |
T |
C |
12: 69,221,428 (GRCm39) |
L190S |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,594,461 (GRCm39) |
H16Q |
probably benign |
Het |
| Mab21l4 |
C |
T |
1: 93,087,575 (GRCm39) |
D93N |
probably benign |
Het |
| Mapkap1 |
A |
G |
2: 34,334,360 (GRCm39) |
E147G |
probably damaging |
Het |
| Mrpl2 |
C |
T |
17: 46,959,992 (GRCm39) |
R219W |
possibly damaging |
Het |
| Muc21 |
A |
G |
17: 35,932,224 (GRCm39) |
|
probably benign |
Het |
| Ndc80 |
A |
G |
17: 71,828,130 (GRCm39) |
S66P |
probably benign |
Het |
| Notch1 |
A |
G |
2: 26,358,638 (GRCm39) |
Y1398H |
probably damaging |
Het |
| Olfml2b |
C |
T |
1: 170,508,758 (GRCm39) |
R539* |
probably null |
Het |
| Or6b9 |
T |
A |
7: 106,555,955 (GRCm39) |
T63S |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,314,420 (GRCm39) |
T59A |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,413,777 (GRCm39) |
M283L |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,577,606 (GRCm39) |
P298S |
unknown |
Het |
| Rap1gap2 |
G |
A |
11: 74,286,651 (GRCm39) |
R550C |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,216,161 (GRCm39) |
T1008I |
probably damaging |
Het |
| Rffl |
T |
C |
11: 82,703,615 (GRCm39) |
K103E |
probably damaging |
Het |
| Rmnd5b |
A |
T |
11: 51,517,887 (GRCm39) |
F156I |
probably damaging |
Het |
| Rtn4ip1 |
T |
C |
10: 43,778,461 (GRCm39) |
I68T |
probably damaging |
Het |
| Samhd1 |
T |
C |
2: 156,951,412 (GRCm39) |
I442V |
possibly damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,677,326 (GRCm39) |
|
probably null |
Het |
| Slc35b1 |
G |
T |
11: 95,275,814 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
G |
5: 114,088,606 (GRCm39) |
V354A |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,935,334 (GRCm39) |
K153E |
possibly damaging |
Het |
| Stk4 |
C |
T |
2: 163,952,199 (GRCm39) |
R19* |
probably null |
Het |
| Tas2r136 |
A |
T |
6: 132,754,374 (GRCm39) |
I251N |
probably damaging |
Het |
| Tbr1 |
A |
T |
2: 61,635,244 (GRCm39) |
T65S |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,282,575 (GRCm39) |
S124F |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,555,000 (GRCm39) |
I228V |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,644 (GRCm39) |
I82V |
probably benign |
Het |
| Vmn2r110 |
T |
C |
17: 20,800,899 (GRCm39) |
Q511R |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,981 (GRCm39) |
M661T |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,334 (GRCm39) |
K1898I |
probably damaging |
Het |
| Zc3h12a |
T |
C |
4: 125,020,558 (GRCm39) |
E95G |
probably benign |
Het |
|
| Other mutations in Plekhg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Plekhg1
|
APN |
10 |
3,913,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01639:Plekhg1
|
APN |
10 |
3,906,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01766:Plekhg1
|
APN |
10 |
3,823,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01983:Plekhg1
|
APN |
10 |
3,895,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Plekhg1
|
APN |
10 |
3,895,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02420:Plekhg1
|
APN |
10 |
3,914,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Plekhg1
|
APN |
10 |
3,908,103 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02505:Plekhg1
|
APN |
10 |
3,907,139 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02659:Plekhg1
|
APN |
10 |
3,907,069 (GRCm39) |
nonsense |
probably null |
|
|
IGL02730:Plekhg1
|
APN |
10 |
3,823,242 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
BB006:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB016:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Plekhg1
|
UTSW |
10 |
3,913,469 (GRCm39) |
missense |
|
|
|
R0041:Plekhg1
|
UTSW |
10 |
3,914,076 (GRCm39) |
nonsense |
probably null |
|
|
R0041:Plekhg1
|
UTSW |
10 |
3,914,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0068:Plekhg1
|
UTSW |
10 |
3,890,504 (GRCm39) |
nonsense |
probably null |
|
|
R0068:Plekhg1
|
UTSW |
10 |
3,890,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0333:Plekhg1
|
UTSW |
10 |
3,914,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Plekhg1
|
UTSW |
10 |
3,914,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0499:Plekhg1
|
UTSW |
10 |
3,887,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Plekhg1
|
UTSW |
10 |
3,887,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Plekhg1
|
UTSW |
10 |
3,890,538 (GRCm39) |
splice site |
probably benign |
|
|
R1501:Plekhg1
|
UTSW |
10 |
3,907,361 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1565:Plekhg1
|
UTSW |
10 |
3,890,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Plekhg1
|
UTSW |
10 |
3,913,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Plekhg1
|
UTSW |
10 |
3,853,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1858:Plekhg1
|
UTSW |
10 |
3,895,917 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1984:Plekhg1
|
UTSW |
10 |
3,908,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2421:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2422:Plekhg1
|
UTSW |
10 |
3,908,048 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2437:Plekhg1
|
UTSW |
10 |
3,913,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Plekhg1
|
UTSW |
10 |
3,913,982 (GRCm39) |
missense |
probably benign |
|
|
R2872:Plekhg1
|
UTSW |
10 |
3,913,982 (GRCm39) |
missense |
probably benign |
|
|
R3830:Plekhg1
|
UTSW |
10 |
3,823,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Plekhg1
|
UTSW |
10 |
3,907,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4059:Plekhg1
|
UTSW |
10 |
3,907,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Plekhg1
|
UTSW |
10 |
3,906,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4731:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4732:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Plekhg1
|
UTSW |
10 |
3,907,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4772:Plekhg1
|
UTSW |
10 |
3,823,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Plekhg1
|
UTSW |
10 |
3,823,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4803:Plekhg1
|
UTSW |
10 |
3,907,186 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5086:Plekhg1
|
UTSW |
10 |
3,853,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Plekhg1
|
UTSW |
10 |
3,915,516 (GRCm39) |
unclassified |
probably benign |
|
|
R5862:Plekhg1
|
UTSW |
10 |
3,887,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Plekhg1
|
UTSW |
10 |
3,914,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Plekhg1
|
UTSW |
10 |
3,914,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Plekhg1
|
UTSW |
10 |
3,907,373 (GRCm39) |
missense |
probably benign |
|
|
R6930:Plekhg1
|
UTSW |
10 |
3,913,770 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7033:Plekhg1
|
UTSW |
10 |
3,890,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7200:Plekhg1
|
UTSW |
10 |
3,906,810 (GRCm39) |
missense |
|
|
|
R7223:Plekhg1
|
UTSW |
10 |
3,823,343 (GRCm39) |
missense |
|
|
|
R7353:Plekhg1
|
UTSW |
10 |
3,914,327 (GRCm39) |
missense |
|
|
|
R7488:Plekhg1
|
UTSW |
10 |
3,907,491 (GRCm39) |
missense |
|
|
|
R7554:Plekhg1
|
UTSW |
10 |
3,913,647 (GRCm39) |
missense |
|
|
|
R7929:Plekhg1
|
UTSW |
10 |
3,869,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8014:Plekhg1
|
UTSW |
10 |
3,907,758 (GRCm39) |
missense |
|
|
|
R8104:Plekhg1
|
UTSW |
10 |
3,902,326 (GRCm39) |
missense |
|
|
|
R8167:Plekhg1
|
UTSW |
10 |
3,907,453 (GRCm39) |
missense |
|
|
|
R8167:Plekhg1
|
UTSW |
10 |
3,907,452 (GRCm39) |
missense |
|
|
|
R8215:Plekhg1
|
UTSW |
10 |
3,907,521 (GRCm39) |
missense |
|
|
|
R8263:Plekhg1
|
UTSW |
10 |
3,907,651 (GRCm39) |
missense |
|
|
|
R8682:Plekhg1
|
UTSW |
10 |
3,897,523 (GRCm39) |
missense |
|
|
|
R8746:Plekhg1
|
UTSW |
10 |
3,907,777 (GRCm39) |
missense |
|
|
|
R9148:Plekhg1
|
UTSW |
10 |
3,907,527 (GRCm39) |
missense |
|
|
|
R9220:Plekhg1
|
UTSW |
10 |
3,913,805 (GRCm39) |
missense |
|
|
|
R9245:Plekhg1
|
UTSW |
10 |
3,907,141 (GRCm39) |
missense |
|
|
|
R9520:Plekhg1
|
UTSW |
10 |
3,906,822 (GRCm39) |
missense |
|
|
|
R9778:Plekhg1
|
UTSW |
10 |
3,887,966 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTTCTTTAAGAATGTGGCTGGC -3'
(R):5'- GCGACTTGAAGCGTTCTCTTC -3'
Sequencing Primer
(F):5'- AATGTGGCTGGCTGGCTACC -3'
(R):5'- CTTCACACAACCTGGTGGAGTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation