Incidental Mutation 'R9220:Plekhg1'
ID |
699410 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R9220 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3913805 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1231
(S1231P)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
AlphaFold |
A0A5F8MPP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042438
AA Change: S1176P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040495 Gene: ENSMUSG00000040624 AA Change: S1176P
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 damaging
Transcript: ENSMUST00000120274
AA Change: S1176P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114056 Gene: ENSMUSG00000040624 AA Change: S1176P
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 |
|
SMART Domains |
Protein: ENSMUSP00000119950 Gene: ENSMUSG00000040624 AA Change: S1231P
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 |
|
SMART Domains |
Protein: ENSMUSP00000122131 Gene: ENSMUSG00000040624 AA Change: S1030P
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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
Afg3l2 |
T |
G |
18: 67,562,266 (GRCm39) |
I270L |
probably benign |
Het |
Akap6 |
A |
T |
12: 53,187,232 (GRCm39) |
I1549F |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,737,086 (GRCm39) |
T2933A |
unknown |
Het |
Atp1a3 |
C |
A |
7: 24,696,625 (GRCm39) |
E309* |
probably null |
Het |
B4galt2 |
T |
C |
4: 117,734,399 (GRCm39) |
Y250C |
probably damaging |
Het |
Bcl2l13 |
C |
A |
6: 120,847,735 (GRCm39) |
T129K |
possibly damaging |
Het |
Bltp3b |
A |
T |
10: 89,626,457 (GRCm39) |
T384S |
probably benign |
Het |
Clp1 |
A |
T |
2: 84,554,076 (GRCm39) |
H364Q |
probably damaging |
Het |
Ddx27 |
T |
C |
2: 166,871,433 (GRCm39) |
V510A |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,679,415 (GRCm39) |
C521R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,871,437 (GRCm39) |
I2486F |
probably benign |
Het |
Eml1 |
C |
A |
12: 108,480,702 (GRCm39) |
C389* |
probably null |
Het |
Fabp6 |
C |
T |
11: 43,489,572 (GRCm39) |
G23D |
probably benign |
Het |
Fam3b |
A |
T |
16: 97,302,111 (GRCm39) |
S38T |
probably benign |
Het |
Fsd1l |
A |
T |
4: 53,679,799 (GRCm39) |
K166* |
probably null |
Het |
Galc |
A |
G |
12: 98,220,523 (GRCm39) |
S115P |
probably damaging |
Het |
Gpn1 |
G |
A |
5: 31,664,884 (GRCm39) |
A303T |
probably benign |
Het |
Grid2 |
A |
T |
6: 63,885,888 (GRCm39) |
S95C |
probably damaging |
Het |
Helz |
T |
A |
11: 107,560,873 (GRCm39) |
S1312T |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,410,325 (GRCm39) |
F506L |
possibly damaging |
Het |
Mcemp1 |
A |
G |
8: 3,717,512 (GRCm39) |
S148G |
probably benign |
Het |
Minar1 |
T |
A |
9: 89,484,398 (GRCm39) |
D333V |
probably damaging |
Het |
Ndrg1 |
A |
G |
15: 66,805,711 (GRCm39) |
|
probably null |
Het |
Nlrp4a |
A |
T |
7: 26,149,523 (GRCm39) |
N377Y |
probably damaging |
Het |
Nox4 |
C |
T |
7: 86,970,774 (GRCm39) |
T217I |
probably benign |
Het |
Or7g21 |
T |
C |
9: 19,033,193 (GRCm39) |
F311S |
possibly damaging |
Het |
Or8b52 |
A |
T |
9: 38,576,803 (GRCm39) |
Y112* |
probably null |
Het |
Phf8-ps |
T |
C |
17: 33,286,494 (GRCm39) |
I103V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,768,726 (GRCm39) |
F403Y |
possibly damaging |
Het |
Plekhg3 |
T |
A |
12: 76,618,839 (GRCm39) |
M497K |
probably benign |
Het |
Rpap1 |
T |
C |
2: 119,604,669 (GRCm39) |
H413R |
probably damaging |
Het |
Rragd |
A |
G |
4: 32,995,924 (GRCm39) |
T90A |
probably damaging |
Het |
Septin9 |
T |
C |
11: 117,242,396 (GRCm39) |
M286T |
probably benign |
Het |
Shpk |
GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA |
GA |
11: 73,113,996 (GRCm39) |
|
probably null |
Het |
Slc22a2 |
T |
A |
17: 12,838,757 (GRCm39) |
D528E |
probably benign |
Het |
Slirp |
G |
A |
12: 87,494,376 (GRCm39) |
R47K |
probably benign |
Het |
Sncg |
T |
C |
14: 34,096,474 (GRCm39) |
T22A |
possibly damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,398,801 (GRCm39) |
S636G |
probably damaging |
Het |
Unc80 |
T |
G |
1: 66,546,534 (GRCm39) |
S535R |
probably damaging |
Het |
Vmn1r149 |
A |
T |
7: 22,137,378 (GRCm39) |
S93T |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,783,058 (GRCm39) |
Y3957H |
|
Het |
Wdr35 |
T |
A |
12: 9,036,000 (GRCm39) |
V257E |
possibly damaging |
Het |
Wscd1 |
A |
G |
11: 71,662,750 (GRCm39) |
T264A |
probably benign |
Het |
Zfp266 |
G |
A |
9: 20,413,337 (GRCm39) |
Q108* |
probably null |
Het |
Zfp62 |
T |
A |
11: 49,106,075 (GRCm39) |
S55R |
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 |
|
R5283:Plekhg1
|
UTSW |
10 |
3,906,654 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
|
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'- GCAGATTTCTCTCCCCAGAC -3'
(R):5'- GACATGAGTTTGCTAGCCCTG -3'
Sequencing Primer
(F):5'- GATTTCTCTCCCCAGACAGAAC -3'
(R):5'- CCCTGACGGCAAATCCTG -3'
|
Posted On |
2022-02-07 |