Incidental Mutation 'R5086:Plekhg1'
| ID |
387451 |
| 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 |
042675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R5086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
3690364-3917303 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3853649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 167
(H167Q)
|
| 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: H167Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: H167Q
| 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: H167Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: H167Q
| 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: ENSMUST00000131525
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136671
AA Change: H222Q
|
| SMART Domains |
Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: H222Q
| 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: H21Q
|
| SMART Domains |
Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: H21Q
| 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 |
0.0935 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
All alleles(13) : Targeted(2) Gene trapped(11)
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
T |
A |
15: 80,847,901 (GRCm39) |
M278K |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,397 (GRCm39) |
I147V |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,578,634 (GRCm39) |
L261P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,997 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,020 (GRCm39) |
V177A |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,853,645 (GRCm39) |
S1906P |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,482,533 (GRCm39) |
Y214C |
probably benign |
Het |
| BC049715 |
C |
T |
6: 136,817,429 (GRCm39) |
T223M |
probably damaging |
Het |
| C1ra |
T |
A |
6: 124,496,688 (GRCm39) |
C375S |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,083,210 (GRCm39) |
R26* |
probably null |
Het |
| Chordc1 |
A |
G |
9: 18,224,131 (GRCm39) |
M304V |
probably benign |
Het |
| Cpne8 |
T |
C |
15: 90,532,771 (GRCm39) |
|
probably benign |
Het |
| Cracd |
A |
G |
5: 77,004,971 (GRCm39) |
E444G |
unknown |
Het |
| Csf1 |
T |
C |
3: 107,656,026 (GRCm39) |
E335G |
possibly damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,683,493 (GRCm39) |
P498L |
possibly damaging |
Het |
| Cyp4f18 |
C |
T |
8: 72,756,276 (GRCm39) |
R100H |
probably benign |
Het |
| Dnaaf2 |
G |
A |
12: 69,244,060 (GRCm39) |
R334C |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,529,189 (GRCm39) |
S1071P |
possibly damaging |
Het |
| Dtnb |
T |
C |
12: 3,682,942 (GRCm39) |
V7A |
probably benign |
Het |
| Eif1 |
T |
C |
11: 100,211,552 (GRCm39) |
I62T |
probably damaging |
Het |
| Fbxo44 |
T |
A |
4: 148,240,669 (GRCm39) |
T145S |
probably benign |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,941 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
A |
T |
4: 46,724,342 (GRCm39) |
M17K |
probably damaging |
Het |
| Gm5860 |
T |
A |
4: 81,984,173 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gpbp1l1 |
C |
A |
4: 116,445,789 (GRCm39) |
T297N |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,758,023 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,197,234 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,231,053 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
T |
A |
12: 114,032,510 (GRCm39) |
L97F |
probably benign |
Het |
| Il21r |
A |
G |
7: 125,232,027 (GRCm39) |
D485G |
probably damaging |
Het |
| Inpp5d |
A |
G |
1: 87,633,686 (GRCm39) |
H441R |
probably damaging |
Het |
| Iqgap2 |
G |
T |
13: 95,772,088 (GRCm39) |
R1364S |
probably benign |
Het |
| Krtap20-2 |
G |
T |
16: 89,002,806 (GRCm39) |
C2F |
unknown |
Het |
| Man2c1 |
T |
A |
9: 57,038,924 (GRCm39) |
D111E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,134,985 (GRCm39) |
E1696K |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,159,522 (GRCm39) |
V634E |
probably benign |
Het |
| Mgam2-ps |
A |
G |
6: 40,800,547 (GRCm39) |
|
noncoding transcript |
Het |
| Mllt3 |
T |
A |
4: 87,707,535 (GRCm39) |
N68Y |
probably damaging |
Het |
| Mrps18a |
T |
A |
17: 46,436,621 (GRCm39) |
D143E |
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,301,611 (GRCm39) |
D172G |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,362,308 (GRCm39) |
N1439S |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,108,625 (GRCm39) |
M764V |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,789,087 (GRCm39) |
L205P |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,812,104 (GRCm39) |
|
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,476,162 (GRCm39) |
T433S |
possibly damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,159 (GRCm39) |
Y279F |
probably damaging |
Het |
| Pim3 |
T |
C |
15: 88,748,606 (GRCm39) |
L235P |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,203,082 (GRCm39) |
S685F |
possibly damaging |
Het |
| Plekhn1 |
G |
C |
4: 156,306,881 (GRCm39) |
P503A |
probably benign |
Het |
| Sar1a |
T |
C |
10: 61,527,125 (GRCm39) |
L181P |
probably damaging |
Het |
| Sec22a |
G |
T |
16: 35,168,112 (GRCm39) |
S133* |
probably null |
Het |
| Sipa1l3 |
G |
A |
7: 29,048,000 (GRCm39) |
S247F |
probably damaging |
Het |
| Slc31a1 |
T |
C |
4: 62,306,190 (GRCm39) |
S103P |
probably damaging |
Het |
| Spag6 |
A |
C |
2: 18,747,688 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,865,581 (GRCm39) |
D1769V |
probably damaging |
Het |
| Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
A |
G |
9: 90,109,510 (GRCm39) |
L322P |
probably benign |
Het |
| Tdrp |
T |
C |
8: 14,024,590 (GRCm39) |
E18G |
possibly damaging |
Het |
| Tlr3 |
T |
A |
8: 45,855,862 (GRCm39) |
N106I |
probably damaging |
Het |
| Tmem104 |
T |
A |
11: 115,092,227 (GRCm39) |
I112N |
probably damaging |
Het |
| Tmem14c |
C |
T |
13: 41,174,598 (GRCm39) |
T69I |
probably benign |
Het |
| Tmprss11g |
G |
A |
5: 86,644,377 (GRCm39) |
P156S |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,700,947 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,082 (GRCm39) |
I296N |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,418 (GRCm39) |
V358D |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,375 (GRCm39) |
L892P |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,451 (GRCm39) |
Q204R |
probably benign |
Het |
| Zfp598 |
C |
A |
17: 24,899,872 (GRCm39) |
|
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 |
|
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'- ATAGATGCCAGTGATTCATCTTGC -3'
(R):5'- CTGGAGACCAAGCTAGTGTG -3'
Sequencing Primer
(F):5'- GAATGCATACGGGACCAA -3'
(R):5'- ACCAAGCTAGTGTGATATTTGGATGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation