Incidental Mutation 'R9520:Plekhg1'
| ID |
718830 |
| 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 # |
R9520 (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 A
at 3906822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 635
(C635S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042438
AA Change: C580S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: C580S
| 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: C580S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: C580S
| 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: C635S
| 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: C434S
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Ackr3 |
T |
A |
1: 90,141,971 (GRCm39) |
Y143* |
probably null |
Het |
| Actn1 |
A |
T |
12: 80,240,417 (GRCm39) |
D223E |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,083,190 (GRCm39) |
T340I |
possibly damaging |
Het |
| B4galnt1 |
G |
A |
10: 127,006,580 (GRCm39) |
E375K |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,651,799 (GRCm39) |
S127T |
probably damaging |
Het |
| Cbr3 |
A |
G |
16: 93,487,318 (GRCm39) |
D167G |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,012,736 (GRCm39) |
N270K |
possibly damaging |
Het |
| Cep131 |
A |
G |
11: 119,968,157 (GRCm39) |
V128A |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,682,135 (GRCm39) |
S154P |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,625,121 (GRCm39) |
E320G |
probably benign |
Het |
| Cit |
T |
A |
5: 116,079,954 (GRCm39) |
L755* |
probably null |
Het |
| Clstn2 |
A |
T |
9: 97,414,763 (GRCm39) |
L377Q |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,281,413 (GRCm39) |
D498V |
probably damaging |
Het |
| Csad |
A |
G |
15: 102,097,102 (GRCm39) |
M1T |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,561,608 (GRCm39) |
F1323L |
|
Het |
| Dennd2c |
A |
T |
3: 103,044,484 (GRCm39) |
Q355L |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,750,842 (GRCm39) |
S475N |
possibly damaging |
Het |
| Foxi3 |
A |
G |
6: 70,937,676 (GRCm39) |
S303G |
probably damaging |
Het |
| Glra1 |
G |
C |
11: 55,405,897 (GRCm39) |
F372L |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,262,637 (GRCm39) |
E858G |
probably benign |
Het |
| Gm7168 |
T |
A |
17: 14,169,506 (GRCm39) |
V291D |
probably benign |
Het |
| Gpr15lg |
T |
A |
14: 36,829,343 (GRCm39) |
T47S |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,399 (GRCm39) |
Y1049C |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,525,230 (GRCm39) |
L24P |
|
Het |
| Guca1a |
T |
A |
17: 47,711,335 (GRCm39) |
I4F |
probably benign |
Het |
| H6pd |
T |
C |
4: 150,080,375 (GRCm39) |
I157V |
possibly damaging |
Het |
| Hectd3 |
T |
A |
4: 116,857,882 (GRCm39) |
M605K |
probably damaging |
Het |
| Hsf2 |
T |
A |
10: 57,371,996 (GRCm39) |
N32K |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,972 (GRCm39) |
V337D |
probably damaging |
Het |
| Iigp1 |
A |
T |
18: 60,523,451 (GRCm39) |
T190S |
probably benign |
Het |
| Iqgap1 |
T |
C |
7: 80,393,869 (GRCm39) |
R622G |
probably benign |
Het |
| Lce1a1 |
A |
T |
3: 92,554,109 (GRCm39) |
C122S |
unknown |
Het |
| Lrfn4 |
C |
T |
19: 4,664,237 (GRCm39) |
R99H |
probably damaging |
Het |
| Lsm1 |
T |
A |
8: 26,283,744 (GRCm39) |
V52E |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,079,631 (GRCm39) |
V1783I |
unknown |
Het |
| Mast4 |
T |
C |
13: 102,925,532 (GRCm39) |
K464R |
probably damaging |
Het |
| Mpdz |
T |
C |
4: 81,304,555 (GRCm39) |
D115G |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,441,131 (GRCm39) |
H507Q |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,497,705 (GRCm39) |
M956L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,062,753 (GRCm39) |
T346A |
possibly damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,146,381 (GRCm39) |
I140V |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,804,709 (GRCm39) |
L144P |
probably damaging |
Het |
| Or2a25 |
T |
C |
6: 42,889,051 (GRCm39) |
V198A |
probably damaging |
Het |
| Or8d2b |
C |
T |
9: 38,789,039 (GRCm39) |
T189I |
probably benign |
Het |
| Pck1 |
G |
A |
2: 172,997,854 (GRCm39) |
V308M |
probably damaging |
Het |
| Phip |
C |
T |
9: 82,753,437 (GRCm39) |
R1769K |
possibly damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,500,378 (GRCm39) |
I58V |
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,456,289 (GRCm39) |
Y170C |
probably damaging |
Het |
| Rnf145 |
A |
T |
11: 44,452,336 (GRCm39) |
E438D |
possibly damaging |
Het |
| Rnf207 |
T |
C |
4: 152,396,234 (GRCm39) |
Y510C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,101,903 (GRCm39) |
C111Y |
probably damaging |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Sec23a |
T |
G |
12: 59,031,974 (GRCm39) |
I448L |
probably benign |
Het |
| Slc22a27 |
T |
C |
19: 7,843,227 (GRCm39) |
Y492C |
possibly damaging |
Het |
| Supv3l1 |
T |
C |
10: 62,268,181 (GRCm39) |
K555E |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,724,696 (GRCm39) |
S372P |
probably damaging |
Het |
| Tgm1 |
A |
G |
14: 55,942,296 (GRCm39) |
F685S |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,455 (GRCm39) |
T350A |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,830,066 (GRCm39) |
Y28* |
probably null |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,993 (GRCm39) |
I564L |
probably benign |
Het |
| Wdr26 |
G |
T |
1: 181,036,587 (GRCm39) |
T183K |
probably benign |
Het |
| Yjefn3 |
A |
T |
8: 70,341,969 (GRCm39) |
Y97N |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,104 (GRCm39) |
D993E |
probably damaging |
Het |
| Zbtb45 |
T |
C |
7: 12,742,012 (GRCm39) |
Q82R |
probably damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,044 (GRCm39) |
V254A |
probably benign |
Het |
| Zfp648 |
A |
G |
1: 154,081,221 (GRCm39) |
D460G |
probably benign |
Het |
| Zfp760 |
T |
G |
17: 21,941,036 (GRCm39) |
N70K |
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 |
|
|
|
R9220:Plekhg1
|
UTSW |
10 |
3,913,805 (GRCm39) |
missense |
|
|
|
R9245:Plekhg1
|
UTSW |
10 |
3,907,141 (GRCm39) |
missense |
|
|
|
R9778:Plekhg1
|
UTSW |
10 |
3,887,966 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTAGAAGCCCATGGACAGATC -3'
(R):5'- TGGTCAACTCTACAGACGACC -3'
Sequencing Primer
(F):5'- TGGACAGATCACCACATCAGG -3'
(R):5'- TGTCTCCCGGGACAGTACTGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation