Incidental Mutation 'R0662:Plekhh1'
ID |
61916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhh1
|
Ensembl Gene |
ENSMUSG00000060716 |
Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 |
Synonyms |
D630024D12Rik |
MMRRC Submission |
038847-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0662 (G1)
|
Quality Score |
161 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
79075937-79128429 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79125767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1268
(T1268A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151747
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039928]
[ENSMUST00000072154]
[ENSMUST00000217998]
[ENSMUST00000219956]
|
AlphaFold |
Q80TI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039928
AA Change: T1268A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000049460 Gene: ENSMUSG00000060716 AA Change: T1268A
Domain | Start | End | E-Value | Type |
coiled coil region
|
26 |
172 |
N/A |
INTRINSIC |
low complexity region
|
363 |
379 |
N/A |
INTRINSIC |
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
PH
|
573 |
668 |
1.15e-22 |
SMART |
PH
|
682 |
792 |
3.23e-8 |
SMART |
MyTH4
|
826 |
980 |
3e-48 |
SMART |
B41
|
987 |
1224 |
6.07e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072154
|
SMART Domains |
Protein: ENSMUSP00000072018 Gene: ENSMUSG00000021120
Domain | Start | End | E-Value | Type |
transmembrane domain
|
36 |
58 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
83 |
N/A |
INTRINSIC |
Pfam:PIG-H
|
89 |
158 |
6.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219946
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219956
AA Change: T1268A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
Eno2 |
A |
T |
6: 124,740,774 (GRCm39) |
F218I |
probably damaging |
Het |
Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
probably benign |
Het |
|
Other mutations in Plekhh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01707:Plekhh1
|
APN |
12 |
79,125,738 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01764:Plekhh1
|
APN |
12 |
79,101,679 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01922:Plekhh1
|
APN |
12 |
79,126,353 (GRCm39) |
missense |
probably benign |
|
IGL02187:Plekhh1
|
APN |
12 |
79,119,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02406:Plekhh1
|
APN |
12 |
79,115,783 (GRCm39) |
splice site |
probably benign |
|
IGL02581:Plekhh1
|
APN |
12 |
79,125,882 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03201:Plekhh1
|
APN |
12 |
79,100,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R0088:Plekhh1
|
UTSW |
12 |
79,102,140 (GRCm39) |
missense |
probably benign |
0.00 |
R0626:Plekhh1
|
UTSW |
12 |
79,087,359 (GRCm39) |
nonsense |
probably null |
|
R0666:Plekhh1
|
UTSW |
12 |
79,115,889 (GRCm39) |
missense |
probably damaging |
0.99 |
R0966:Plekhh1
|
UTSW |
12 |
79,112,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1027:Plekhh1
|
UTSW |
12 |
79,101,256 (GRCm39) |
splice site |
probably benign |
|
R1507:Plekhh1
|
UTSW |
12 |
79,126,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Plekhh1
|
UTSW |
12 |
79,123,482 (GRCm39) |
missense |
probably benign |
0.00 |
R1759:Plekhh1
|
UTSW |
12 |
79,119,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Plekhh1
|
UTSW |
12 |
79,125,731 (GRCm39) |
splice site |
probably benign |
|
R2125:Plekhh1
|
UTSW |
12 |
79,125,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R2345:Plekhh1
|
UTSW |
12 |
79,100,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R3895:Plekhh1
|
UTSW |
12 |
79,102,006 (GRCm39) |
missense |
probably benign |
|
R3927:Plekhh1
|
UTSW |
12 |
79,100,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R4039:Plekhh1
|
UTSW |
12 |
79,101,957 (GRCm39) |
missense |
probably benign |
0.01 |
R4720:Plekhh1
|
UTSW |
12 |
79,122,194 (GRCm39) |
frame shift |
probably null |
|
R4721:Plekhh1
|
UTSW |
12 |
79,122,194 (GRCm39) |
frame shift |
probably null |
|
R4824:Plekhh1
|
UTSW |
12 |
79,101,577 (GRCm39) |
missense |
probably benign |
|
R4869:Plekhh1
|
UTSW |
12 |
79,097,160 (GRCm39) |
missense |
probably benign |
|
R5114:Plekhh1
|
UTSW |
12 |
79,115,880 (GRCm39) |
missense |
probably benign |
0.00 |
R5809:Plekhh1
|
UTSW |
12 |
79,125,461 (GRCm39) |
missense |
probably benign |
0.26 |
R6540:Plekhh1
|
UTSW |
12 |
79,111,263 (GRCm39) |
missense |
probably benign |
0.14 |
R6977:Plekhh1
|
UTSW |
12 |
79,112,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7058:Plekhh1
|
UTSW |
12 |
79,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Plekhh1
|
UTSW |
12 |
79,113,429 (GRCm39) |
missense |
probably benign |
0.01 |
R7120:Plekhh1
|
UTSW |
12 |
79,117,713 (GRCm39) |
missense |
probably benign |
0.03 |
R7134:Plekhh1
|
UTSW |
12 |
79,109,390 (GRCm39) |
missense |
probably benign |
0.00 |
R7209:Plekhh1
|
UTSW |
12 |
79,097,150 (GRCm39) |
missense |
probably benign |
0.04 |
R7403:Plekhh1
|
UTSW |
12 |
79,087,351 (GRCm39) |
nonsense |
probably null |
|
R7405:Plekhh1
|
UTSW |
12 |
79,101,821 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Plekhh1
|
UTSW |
12 |
79,126,326 (GRCm39) |
missense |
probably benign |
0.00 |
R7594:Plekhh1
|
UTSW |
12 |
79,123,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7648:Plekhh1
|
UTSW |
12 |
79,101,905 (GRCm39) |
missense |
probably benign |
0.20 |
R7756:Plekhh1
|
UTSW |
12 |
79,117,578 (GRCm39) |
missense |
probably benign |
0.15 |
R7758:Plekhh1
|
UTSW |
12 |
79,117,578 (GRCm39) |
missense |
probably benign |
0.15 |
R8033:Plekhh1
|
UTSW |
12 |
79,117,710 (GRCm39) |
missense |
probably benign |
0.23 |
R8153:Plekhh1
|
UTSW |
12 |
79,125,812 (GRCm39) |
missense |
probably benign |
0.00 |
R8243:Plekhh1
|
UTSW |
12 |
79,125,843 (GRCm39) |
missense |
probably benign |
|
R8728:Plekhh1
|
UTSW |
12 |
79,115,862 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8992:Plekhh1
|
UTSW |
12 |
79,122,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTGCTCTGCTCTGCTCAGAAG -3'
(R):5'- ATCAGGCAGTTCCCACCAAGTTCC -3'
Sequencing Primer
(F):5'- TCTGCTCAGAAGCCTGAACTAAG -3'
(R):5'- ACCAAGTTCCAGCTCAGTGG -3'
|
Posted On |
2013-07-30 |