Incidental Mutation 'R4772:Plekhg1'
ID |
367615 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R4772 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3823127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 32
(M32L)
|
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: M32L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000040495 Gene: ENSMUSG00000040624 AA Change: M32L
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 |
noncoding transcript
Transcript: ENSMUST00000117631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000120274
AA Change: M32L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000114056 Gene: ENSMUSG00000040624 AA Change: M32L
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: M87L
|
SMART Domains |
Protein: ENSMUSP00000119950 Gene: ENSMUSG00000040624 AA Change: M87L
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
|
Meta Mutation Damage Score |
0.0675 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
95% (74/78) |
Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,265,339 (GRCm39) |
|
probably null |
Het |
Adamts19 |
A |
G |
18: 58,970,848 (GRCm39) |
Q144R |
possibly damaging |
Het |
Adgrb3 |
C |
A |
1: 25,570,956 (GRCm39) |
C507F |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,590,237 (GRCm39) |
*923W |
probably null |
Het |
Atp13a4 |
T |
C |
16: 29,239,653 (GRCm39) |
|
probably benign |
Het |
Baz2b |
G |
T |
2: 59,788,795 (GRCm39) |
R697S |
probably damaging |
Het |
Bicdl1 |
A |
G |
5: 115,799,537 (GRCm39) |
I184T |
probably benign |
Het |
Bpifb4 |
C |
T |
2: 153,784,903 (GRCm39) |
L204F |
possibly damaging |
Het |
Cep120 |
C |
T |
18: 53,851,561 (GRCm39) |
R577Q |
probably damaging |
Het |
Cplx4 |
T |
C |
18: 66,103,048 (GRCm39) |
E24G |
possibly damaging |
Het |
Dcxr |
T |
C |
11: 120,616,923 (GRCm39) |
T147A |
probably benign |
Het |
Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
Dsp |
G |
T |
13: 38,351,504 (GRCm39) |
G108* |
probably null |
Het |
Entpd6 |
T |
A |
2: 150,609,014 (GRCm39) |
I366K |
probably damaging |
Het |
Fam111a |
A |
G |
19: 12,565,057 (GRCm39) |
K269E |
probably benign |
Het |
Grid2ip |
T |
G |
5: 143,361,455 (GRCm39) |
V222G |
possibly damaging |
Het |
Hmcn2 |
T |
G |
2: 31,335,326 (GRCm39) |
V4421G |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,555,253 (GRCm39) |
T817A |
probably damaging |
Het |
Irak2 |
A |
T |
6: 113,670,683 (GRCm39) |
E533V |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,464,523 (GRCm39) |
S1297G |
probably damaging |
Het |
Kbtbd6 |
T |
C |
14: 79,689,596 (GRCm39) |
F97S |
probably damaging |
Het |
Kctd14 |
A |
T |
7: 97,106,883 (GRCm39) |
E99V |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,338,557 (GRCm39) |
Y432F |
probably benign |
Het |
Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
Mief2 |
T |
A |
11: 60,621,288 (GRCm39) |
|
probably benign |
Het |
Mog |
A |
T |
17: 37,334,049 (GRCm39) |
S15T |
unknown |
Het |
Mpi |
T |
C |
9: 57,452,181 (GRCm39) |
D365G |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,379,983 (GRCm39) |
|
probably null |
Het |
Nes |
A |
G |
3: 87,883,486 (GRCm39) |
T582A |
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,780,393 (GRCm39) |
D5G |
probably benign |
Het |
Nr1i3 |
C |
T |
1: 171,044,719 (GRCm39) |
T218I |
probably damaging |
Het |
Nup43 |
C |
T |
10: 7,554,433 (GRCm39) |
R339* |
probably null |
Het |
Nup58 |
T |
A |
14: 60,457,471 (GRCm39) |
R577S |
probably benign |
Het |
Olfr908 |
C |
T |
9: 38,427,897 (GRCm39) |
|
probably benign |
Het |
Or4l15 |
AAATTTGAA |
AAA |
14: 50,198,452 (GRCm39) |
|
probably benign |
Het |
Or52n4b |
T |
A |
7: 108,144,092 (GRCm39) |
M120K |
probably damaging |
Het |
Or5d35 |
T |
A |
2: 87,855,207 (GRCm39) |
I47K |
probably damaging |
Het |
Or6c38 |
A |
T |
10: 128,929,537 (GRCm39) |
V102D |
possibly damaging |
Het |
Or9g20 |
G |
A |
2: 85,630,338 (GRCm39) |
S92F |
probably damaging |
Het |
Orc1 |
T |
C |
4: 108,436,765 (GRCm39) |
|
probably benign |
Het |
Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
Phactr3 |
C |
T |
2: 177,925,729 (GRCm39) |
R330W |
probably damaging |
Het |
Phldb1 |
G |
A |
9: 44,622,324 (GRCm39) |
R81W |
probably damaging |
Het |
Pip5k1c |
C |
T |
10: 81,151,774 (GRCm39) |
P656L |
probably benign |
Het |
Pkn3 |
T |
G |
2: 29,974,692 (GRCm39) |
|
probably null |
Het |
Plcb2 |
T |
A |
2: 118,543,615 (GRCm39) |
H752L |
probably benign |
Het |
Plch1 |
G |
A |
3: 63,660,746 (GRCm39) |
T291M |
probably damaging |
Het |
Plk4 |
A |
G |
3: 40,759,625 (GRCm39) |
T174A |
probably damaging |
Het |
Ppip5k2 |
C |
A |
1: 97,648,792 (GRCm39) |
|
probably benign |
Het |
Prl2a1 |
G |
A |
13: 27,988,961 (GRCm39) |
V29M |
probably benign |
Het |
R3hcc1l |
T |
C |
19: 42,571,996 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
C |
T |
8: 13,648,289 (GRCm39) |
G125D |
probably damaging |
Het |
Sema3f |
A |
T |
9: 107,566,919 (GRCm39) |
Y136* |
probably null |
Het |
Slc13a5 |
T |
A |
11: 72,141,672 (GRCm39) |
|
probably null |
Het |
Slc16a1 |
T |
C |
3: 104,560,880 (GRCm39) |
V395A |
possibly damaging |
Het |
Sparcl1 |
C |
T |
5: 104,236,356 (GRCm39) |
A466T |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,069,690 (GRCm39) |
|
probably benign |
Het |
Styxl1 |
G |
A |
5: 135,797,755 (GRCm39) |
R50* |
probably null |
Het |
Tex264 |
T |
A |
9: 106,550,901 (GRCm39) |
I99F |
possibly damaging |
Het |
Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
Tmem245 |
A |
C |
4: 56,937,989 (GRCm39) |
|
probably null |
Het |
Tnik |
A |
T |
3: 28,661,359 (GRCm39) |
T587S |
probably benign |
Het |
Tpr |
T |
G |
1: 150,288,864 (GRCm39) |
S648A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,596,313 (GRCm39) |
E18454G |
probably damaging |
Het |
Utp20 |
A |
C |
10: 88,645,797 (GRCm39) |
H527Q |
probably benign |
Het |
Vmn1r1 |
A |
T |
1: 181,985,111 (GRCm39) |
S185T |
probably benign |
Het |
Vps54 |
C |
T |
11: 21,262,952 (GRCm39) |
H680Y |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,419,553 (GRCm39) |
|
probably null |
Het |
Wscd1 |
T |
C |
11: 71,662,802 (GRCm39) |
|
probably null |
Het |
Zbtb41 |
C |
T |
1: 139,375,152 (GRCm39) |
P871S |
probably damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,549 (GRCm39) |
L186P |
possibly damaging |
Het |
Zdhhc13 |
A |
G |
7: 48,449,621 (GRCm39) |
Y73C |
probably benign |
Het |
Zfp12 |
A |
G |
5: 143,225,755 (GRCm39) |
E21G |
probably damaging |
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 |
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'- CGTGCCTTCAGCTGTAAGTC -3'
(R):5'- TCTACATAGAGGAGCTTGGGGC -3'
Sequencing Primer
(F):5'- AGTCTAGTTCCTGATCCAAGGAC -3'
(R):5'- ATTCTCCATGGAGTCCTAGGCTG -3'
|
Posted On |
2015-12-29 |