Incidental Mutation 'R6703:Plekhn1'
| ID |
528270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
044821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R6703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156309250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 219
(Y219N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105569]
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
| AlphaFold |
Q8C886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105569
|
| SMART Domains |
Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
50 |
N/A |
INTRINSIC |
|
BTB
|
90 |
187 |
3.55e-30 |
SMART |
|
BACK
|
192 |
294 |
1.08e-42 |
SMART |
|
Kelch
|
341 |
387 |
4.01e-8 |
SMART |
|
Kelch
|
388 |
434 |
5.41e-14 |
SMART |
|
Kelch
|
435 |
481 |
6.97e-17 |
SMART |
|
Kelch
|
482 |
528 |
1.55e-14 |
SMART |
|
Kelch
|
529 |
575 |
2.02e-13 |
SMART |
|
Kelch
|
576 |
622 |
1.34e-9 |
SMART |
|
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105571
AA Change: Y219N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: Y219N
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
96 |
192 |
4.6e-4 |
SMART |
|
PH
|
227 |
324 |
8.34e-2 |
SMART |
|
low complexity region
|
346 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105572
|
| SMART Domains |
Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
553 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
616 |
N/A |
INTRINSIC |
|
low complexity region
|
790 |
806 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217885
AA Change: Y219N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
AA Change: Y219N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
A |
10: 21,497,558 (GRCm39) |
Y66* |
probably null |
Het |
| Akap13 |
T |
C |
7: 75,252,646 (GRCm39) |
S259P |
probably damaging |
Het |
| Aoc1 |
A |
C |
6: 48,882,648 (GRCm39) |
T197P |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,950,950 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
T |
6: 61,615,495 (GRCm39) |
K94* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,704,596 (GRCm39) |
D2828V |
unknown |
Het |
| Clec4n |
A |
G |
6: 123,212,553 (GRCm39) |
Q89R |
probably null |
Het |
| Col6a3 |
T |
C |
1: 90,707,161 (GRCm39) |
D1984G |
unknown |
Het |
| Col6a3 |
C |
T |
1: 90,720,184 (GRCm39) |
R1552Q |
probably benign |
Het |
| Csnk2a1 |
A |
G |
2: 152,100,608 (GRCm39) |
T93A |
probably benign |
Het |
| Dna2 |
T |
A |
10: 62,809,073 (GRCm39) |
I1055N |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 162,146,256 (GRCm39) |
F296L |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,834,909 (GRCm39) |
E1822G |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,690,849 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
A |
T |
6: 126,867,045 (GRCm39) |
I329N |
probably damaging |
Het |
| E4f1 |
C |
A |
17: 24,666,105 (GRCm39) |
R231L |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,083 (GRCm39) |
T945A |
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,502,106 (GRCm39) |
M99K |
probably damaging |
Het |
| Flad1 |
T |
C |
3: 89,315,897 (GRCm39) |
S222G |
probably benign |
Het |
| H1f7 |
C |
A |
15: 98,155,153 (GRCm39) |
|
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,268,653 (GRCm39) |
|
probably benign |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Itln1 |
C |
T |
1: 171,358,151 (GRCm39) |
C199Y |
probably damaging |
Het |
| Kctd3 |
G |
A |
1: 188,728,726 (GRCm39) |
R137C |
probably damaging |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Larp7 |
C |
T |
3: 127,337,873 (GRCm39) |
M395I |
probably damaging |
Het |
| Lpcat3 |
C |
T |
6: 124,640,185 (GRCm39) |
A5V |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,637,532 (GRCm39) |
T233M |
possibly damaging |
Het |
| Map4k1 |
T |
G |
7: 28,701,821 (GRCm39) |
S803A |
possibly damaging |
Het |
| Mef2c |
T |
A |
13: 83,773,525 (GRCm39) |
C134S |
possibly damaging |
Het |
| Mgst2 |
T |
C |
3: 51,572,033 (GRCm39) |
|
probably null |
Het |
| Mug2 |
T |
G |
6: 122,055,653 (GRCm39) |
I1112R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,383,818 (GRCm39) |
I1622V |
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,902 (GRCm39) |
F142S |
possibly damaging |
Het |
| Nectin3 |
A |
G |
16: 46,284,205 (GRCm39) |
S160P |
probably damaging |
Het |
| Nudt16l2 |
T |
C |
9: 105,021,758 (GRCm39) |
Y96C |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,101,935 (GRCm39) |
T535A |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,122 (GRCm39) |
I215V |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,688 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or4k42 |
T |
A |
2: 111,320,454 (GRCm39) |
|
probably null |
Het |
| Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,335,734 (GRCm39) |
V683M |
possibly damaging |
Het |
| Per2 |
C |
T |
1: 91,355,671 (GRCm39) |
E696K |
probably damaging |
Het |
| Pif1 |
T |
C |
9: 65,500,545 (GRCm39) |
V490A |
probably damaging |
Het |
| Ppl |
T |
G |
16: 4,907,328 (GRCm39) |
E989A |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,488,392 (GRCm39) |
S505A |
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,824,321 (GRCm39) |
L35P |
probably damaging |
Het |
| Ptges |
A |
G |
2: 30,793,133 (GRCm39) |
V33A |
possibly damaging |
Het |
| Qser1 |
G |
A |
2: 104,607,670 (GRCm39) |
T1416I |
possibly damaging |
Het |
| Rab3a |
A |
G |
8: 71,209,095 (GRCm39) |
D77G |
probably damaging |
Het |
| Rtn3 |
A |
T |
19: 7,412,410 (GRCm39) |
V788D |
probably damaging |
Het |
| Rtn4r |
T |
C |
16: 17,969,055 (GRCm39) |
L161P |
probably damaging |
Het |
| Rtn4rl1 |
G |
A |
11: 75,156,354 (GRCm39) |
R262Q |
probably benign |
Het |
| S1pr3 |
A |
T |
13: 51,573,475 (GRCm39) |
I219F |
probably damaging |
Het |
| Sec23b |
A |
T |
2: 144,401,109 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 80,029,203 (GRCm39) |
E522G |
probably damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,742,911 (GRCm39) |
N533S |
probably benign |
Het |
| Slc39a5 |
T |
A |
10: 128,233,651 (GRCm39) |
D282V |
probably damaging |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,304,967 (GRCm39) |
I109T |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,982,497 (GRCm39) |
V361E |
probably damaging |
Het |
| Sox5 |
G |
T |
6: 143,779,191 (GRCm39) |
S648R |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,799,842 (GRCm39) |
S2161N |
probably benign |
Het |
| Sptbn2 |
C |
A |
19: 4,799,843 (GRCm39) |
S2161R |
probably benign |
Het |
| St6galnac2 |
A |
G |
11: 116,575,213 (GRCm39) |
S209P |
probably benign |
Het |
| Tmub1 |
T |
C |
5: 24,651,944 (GRCm39) |
S7G |
probably benign |
Het |
| Trarg1 |
A |
T |
11: 76,584,988 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
C |
A |
7: 142,623,055 (GRCm39) |
|
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfp438 |
A |
G |
18: 5,214,044 (GRCm39) |
S305P |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,671,066 (GRCm39) |
T81A |
possibly damaging |
Het |
|
| Other mutations in Plekhn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Plekhn1
|
APN |
4 |
156,307,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00473:Plekhn1
|
APN |
4 |
156,307,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Plekhn1
|
APN |
4 |
156,306,865 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02122:Plekhn1
|
APN |
4 |
156,308,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02210:Plekhn1
|
APN |
4 |
156,308,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4142001:Plekhn1
|
UTSW |
4 |
156,309,397 (GRCm39) |
nonsense |
probably null |
|
|
PIT4366001:Plekhn1
|
UTSW |
4 |
156,309,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0123:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0134:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0225:Plekhn1
|
UTSW |
4 |
156,312,700 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0276:Plekhn1
|
UTSW |
4 |
156,312,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0282:Plekhn1
|
UTSW |
4 |
156,312,780 (GRCm39) |
splice site |
probably benign |
|
|
R0540:Plekhn1
|
UTSW |
4 |
156,307,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0569:Plekhn1
|
UTSW |
4 |
156,309,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Plekhn1
|
UTSW |
4 |
156,309,821 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0798:Plekhn1
|
UTSW |
4 |
156,312,720 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0848:Plekhn1
|
UTSW |
4 |
156,308,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1803:Plekhn1
|
UTSW |
4 |
156,306,838 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2168:Plekhn1
|
UTSW |
4 |
156,306,339 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2356:Plekhn1
|
UTSW |
4 |
156,307,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Plekhn1
|
UTSW |
4 |
156,307,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3746:Plekhn1
|
UTSW |
4 |
156,310,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3818:Plekhn1
|
UTSW |
4 |
156,309,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Plekhn1
|
UTSW |
4 |
156,310,126 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4024:Plekhn1
|
UTSW |
4 |
156,309,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4057:Plekhn1
|
UTSW |
4 |
156,309,150 (GRCm39) |
splice site |
probably null |
|
|
R4176:Plekhn1
|
UTSW |
4 |
156,306,258 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4402:Plekhn1
|
UTSW |
4 |
156,309,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Plekhn1
|
UTSW |
4 |
156,309,730 (GRCm39) |
splice site |
probably null |
|
|
R4477:Plekhn1
|
UTSW |
4 |
156,307,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Plekhn1
|
UTSW |
4 |
156,309,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Plekhn1
|
UTSW |
4 |
156,306,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5092:Plekhn1
|
UTSW |
4 |
156,309,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5201:Plekhn1
|
UTSW |
4 |
156,314,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5896:Plekhn1
|
UTSW |
4 |
156,308,331 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5913:Plekhn1
|
UTSW |
4 |
156,307,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6124:Plekhn1
|
UTSW |
4 |
156,309,696 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6244:Plekhn1
|
UTSW |
4 |
156,315,015 (GRCm39) |
splice site |
probably null |
|
|
R6263:Plekhn1
|
UTSW |
4 |
156,309,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6430:Plekhn1
|
UTSW |
4 |
156,306,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6723:Plekhn1
|
UTSW |
4 |
156,309,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Plekhn1
|
UTSW |
4 |
156,306,249 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7057:Plekhn1
|
UTSW |
4 |
156,318,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7135:Plekhn1
|
UTSW |
4 |
156,307,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7347:Plekhn1
|
UTSW |
4 |
156,307,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7408:Plekhn1
|
UTSW |
4 |
156,318,418 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7423:Plekhn1
|
UTSW |
4 |
156,315,142 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7500:Plekhn1
|
UTSW |
4 |
156,317,771 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7613:Plekhn1
|
UTSW |
4 |
156,309,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7626:Plekhn1
|
UTSW |
4 |
156,310,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7738:Plekhn1
|
UTSW |
4 |
156,316,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Plekhn1
|
UTSW |
4 |
156,312,697 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8067:Plekhn1
|
UTSW |
4 |
156,312,697 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8744:Plekhn1
|
UTSW |
4 |
156,318,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Plekhn1
|
UTSW |
4 |
156,316,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Plekhn1
|
UTSW |
4 |
156,307,046 (GRCm39) |
intron |
probably benign |
|
|
R8841:Plekhn1
|
UTSW |
4 |
156,316,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8900:Plekhn1
|
UTSW |
4 |
156,310,078 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9208:Plekhn1
|
UTSW |
4 |
156,306,859 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9723:Plekhn1
|
UTSW |
4 |
156,306,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Plekhn1
|
UTSW |
4 |
156,306,811 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
X0065:Plekhn1
|
UTSW |
4 |
156,309,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Plekhn1
|
UTSW |
4 |
156,307,888 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAGAGAAGATGGCCAG -3'
(R):5'- TGGCTCTCTTGGGTCTACAAC -3'
Sequencing Primer
(F):5'- CACTGTTCCTGTAAGGGGTCAAAG -3'
(R):5'- TTGGGTCTACAACGATGCCAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation