Incidental Mutation 'R5086:Plekhn1'
| ID |
387430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plekhn1
|
| Ensembl Gene |
ENSMUSG00000078485 |
| Gene Name |
pleckstrin homology domain containing, family N member 1 |
| Synonyms |
|
| MMRRC Submission |
042675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 156306881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 503
(P503A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105571]
[ENSMUST00000105572]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
| AlphaFold |
Q8C886 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105571
AA Change: P504A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: P504A
| 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: P503A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
AA Change: P503A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219227
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| 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 |
| Plekhg1 |
C |
A |
10: 3,853,649 (GRCm39) |
H167Q |
probably damaging |
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 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 |
|
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 |
|
R6703:Plekhn1
|
UTSW |
4 |
156,309,250 (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'- AATGTGACTTACAAGCTGAGGG -3'
(R):5'- GTCAGTACTCTACTAGGTGCCG -3'
Sequencing Primer
(F):5'- CTTACAAGCTGAGGGAAGTCTG -3'
(R):5'- GGTGCCAGGACTGAATACACTAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation