Incidental Mutation 'R1565:Plekhg1'
| ID |
175204 |
| 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 |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.255)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3890526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 394
(T394I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042438]
[ENSMUST00000120274]
|
| AlphaFold |
A0A5F8MPP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042438
AA Change: T394I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: T394I
| 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: T394I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: T394I
| 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: T449I
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: T449I
| 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 |
noncoding transcript
Transcript: ENSMUST00000137111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144543
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154727
AA Change: T248I
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: T248I
| 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 |
|
| Meta Mutation Damage Score |
0.1589 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,327 (GRCm39) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,813,536 (GRCm39) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,106,676 (GRCm39) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,089,327 (GRCm39) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,648,144 (GRCm39) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,367,624 (GRCm39) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,434,668 (GRCm39) |
R488Q |
probably benign |
Het |
| Cltrn |
A |
G |
X: 162,901,230 (GRCm39) |
D184G |
possibly damaging |
Het |
| Cpxm2 |
A |
T |
7: 131,663,874 (GRCm39) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,812 (GRCm39) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,906,678 (GRCm39) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,417,391 (GRCm39) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,913,486 (GRCm39) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,488 (GRCm39) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,170 (GRCm39) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm39) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,769,660 (GRCm39) |
T631A |
possibly damaging |
Het |
| Gpld1 |
T |
A |
13: 25,140,051 (GRCm39) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,110,695 (GRCm39) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,078,410 (GRCm39) |
V489A |
probably damaging |
Het |
| Hpdl |
T |
C |
4: 116,678,080 (GRCm39) |
N127S |
probably damaging |
Het |
| Hsd17b8 |
C |
T |
17: 34,246,469 (GRCm39) |
V105I |
possibly damaging |
Het |
| Id4 |
G |
T |
13: 48,415,770 (GRCm39) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 53,263,909 (GRCm39) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,118,489 (GRCm39) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,926,819 (GRCm39) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,410,647 (GRCm39) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,124,957 (GRCm39) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,328,474 (GRCm39) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,822,166 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,345,091 (GRCm39) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,767,836 (GRCm39) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,622,217 (GRCm39) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,748,926 (GRCm39) |
D771E |
probably benign |
Het |
| Nup160 |
A |
T |
2: 90,552,405 (GRCm39) |
N1127I |
possibly damaging |
Het |
| Oas1h |
A |
T |
5: 121,000,663 (GRCm39) |
N91I |
probably damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,389 (GRCm39) |
N87Y |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,000,971 (GRCm39) |
V195D |
probably benign |
Het |
| Or4c121 |
G |
T |
2: 89,024,227 (GRCm39) |
S50R |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,827,329 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,099,764 (GRCm39) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,847,548 (GRCm39) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,187 (GRCm39) |
Q170* |
probably null |
Het |
| Psmd1 |
T |
C |
1: 86,019,719 (GRCm39) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,775,128 (GRCm39) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 22,130,211 (GRCm39) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,800,575 (GRCm39) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,815,963 (GRCm39) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,788,491 (GRCm39) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,132,731 (GRCm39) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,761,975 (GRCm39) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 95,072,505 (GRCm39) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,465,429 (GRCm39) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,840,102 (GRCm39) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,888,755 (GRCm39) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,523,778 (GRCm39) |
S194T |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 159,924,835 (GRCm39) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 98,891,880 (GRCm39) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,579,746 (GRCm39) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,624,605 (GRCm39) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,773 (GRCm39) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,657,227 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,208,593 (GRCm39) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,558,420 (GRCm39) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,753,627 (GRCm39) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,737,238 (GRCm39) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,737,239 (GRCm39) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,439 (GRCm39) |
D135G |
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 |
|
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 |
|
|
|
R9520:Plekhg1
|
UTSW |
10 |
3,906,822 (GRCm39) |
missense |
|
|
|
R9778:Plekhg1
|
UTSW |
10 |
3,887,966 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGAGATCCAGAGCTTGCTAAC -3'
(R):5'- TCTTCAGGTGCAGAACCCAGAGAC -3'
Sequencing Primer
(F):5'- AGCTTGCTAACCAACTGGG -3'
(R):5'- ACGTTTGTCTTGCTGGGATTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation