Incidental Mutation 'R7738:Plekhn1'
ID |
596366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhn1
|
Ensembl Gene |
ENSMUSG00000078485 |
Gene Name |
pleckstrin homology domain containing, family N member 1 |
Synonyms |
|
MMRRC Submission |
045794-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R7738 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
156305913-156312999 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 156316691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 330
(T330M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101194
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105569]
[ENSMUST00000105571]
[ENSMUST00000179543]
[ENSMUST00000179886]
[ENSMUST00000217885]
[ENSMUST00000218699]
|
AlphaFold |
Q8C886 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105569
AA Change: T330M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101194 Gene: ENSMUSG00000078485 AA Change: T330M
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
|
SMART Domains |
Protein: ENSMUSP00000101196 Gene: ENSMUSG00000078485
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: ENSMUST00000179543
|
SMART Domains |
Protein: ENSMUSP00000137253 Gene: ENSMUSG00000095567
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
58 |
N/A |
INTRINSIC |
low complexity region
|
97 |
114 |
N/A |
INTRINSIC |
low complexity region
|
121 |
139 |
N/A |
INTRINSIC |
Pfam:Noc2
|
331 |
626 |
1.8e-128 |
PFAM |
low complexity region
|
651 |
675 |
N/A |
INTRINSIC |
low complexity region
|
701 |
723 |
N/A |
INTRINSIC |
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179886
|
SMART Domains |
Protein: ENSMUSP00000137183 Gene: ENSMUSG00000095567
Domain | Start | End | E-Value | Type |
Pfam:Noc2
|
172 |
470 |
1.2e-117 |
PFAM |
low complexity region
|
494 |
518 |
N/A |
INTRINSIC |
low complexity region
|
544 |
566 |
N/A |
INTRINSIC |
low complexity region
|
581 |
593 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217885
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218699
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkal1 |
T |
A |
1: 6,459,728 (GRCm39) |
D101E |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,741,271 (GRCm39) |
A1538T |
|
Het |
Arhgap21 |
A |
G |
2: 20,854,290 (GRCm39) |
S1701P |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,855,169 (GRCm39) |
Y1408H |
probably damaging |
Het |
Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
Cep57l1 |
T |
A |
10: 41,616,842 (GRCm39) |
E148D |
probably damaging |
Het |
Clstn1 |
A |
C |
4: 149,719,811 (GRCm39) |
Q452P |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,151,004 (GRCm39) |
R1437L |
probably damaging |
Het |
Dcbld1 |
C |
T |
10: 52,188,922 (GRCm39) |
T249I |
possibly damaging |
Het |
Dsp |
A |
G |
13: 38,369,151 (GRCm39) |
E749G |
probably damaging |
Het |
Enox1 |
A |
C |
14: 77,815,220 (GRCm39) |
N126T |
probably damaging |
Het |
Fgfr1 |
T |
A |
8: 26,048,201 (GRCm39) |
L99Q |
probably damaging |
Het |
Fscn3 |
G |
A |
6: 28,434,445 (GRCm39) |
R340Q |
probably benign |
Het |
Glrb |
C |
T |
3: 80,767,491 (GRCm39) |
C243Y |
probably damaging |
Het |
Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,531,108 (GRCm39) |
K536E |
possibly damaging |
Het |
Igtp |
A |
G |
11: 58,097,906 (GRCm39) |
E359G |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,236,162 (GRCm39) |
D509G |
probably damaging |
Het |
Kbtbd2 |
C |
A |
6: 56,756,722 (GRCm39) |
S338I |
possibly damaging |
Het |
Mpdz |
A |
G |
4: 81,253,986 (GRCm39) |
S1049P |
probably benign |
Het |
Ncoa3 |
C |
T |
2: 165,891,987 (GRCm39) |
A121V |
probably damaging |
Het |
Nfatc4 |
A |
G |
14: 56,069,414 (GRCm39) |
T647A |
possibly damaging |
Het |
Nip7 |
T |
C |
8: 107,783,997 (GRCm39) |
F79S |
probably damaging |
Het |
Nrxn3 |
A |
C |
12: 88,817,074 (GRCm39) |
E251D |
possibly damaging |
Het |
Olig2 |
T |
C |
16: 91,024,048 (GRCm39) |
I254T |
unknown |
Het |
Or55b4 |
C |
A |
7: 102,133,818 (GRCm39) |
V170F |
probably damaging |
Het |
Or5ac16 |
G |
A |
16: 59,022,318 (GRCm39) |
A157V |
probably benign |
Het |
Ostf1 |
A |
T |
19: 18,562,065 (GRCm39) |
L177* |
probably null |
Het |
Pabpc2 |
A |
T |
18: 39,907,319 (GRCm39) |
I195F |
possibly damaging |
Het |
Pacs1 |
A |
T |
19: 5,202,378 (GRCm39) |
M404K |
probably benign |
Het |
Pcdh1 |
A |
G |
18: 38,330,529 (GRCm39) |
S964P |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,436,012 (GRCm39) |
N659K |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,181,633 (GRCm39) |
Y537* |
probably null |
Het |
Proc |
G |
A |
18: 32,260,532 (GRCm39) |
R198* |
probably null |
Het |
Rfx8 |
G |
T |
1: 39,722,091 (GRCm39) |
T298K |
probably damaging |
Het |
S1pr4 |
A |
C |
10: 81,334,341 (GRCm39) |
S378A |
probably benign |
Het |
Saxo5 |
T |
C |
8: 3,533,525 (GRCm39) |
F277S |
probably damaging |
Het |
Slfn2 |
T |
A |
11: 82,960,799 (GRCm39) |
F259L |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,289,527 (GRCm39) |
T242A |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,774,153 (GRCm39) |
N68S |
probably damaging |
Het |
Tmem44 |
A |
T |
16: 30,362,228 (GRCm39) |
S201T |
probably benign |
Het |
Ttc3 |
A |
T |
16: 94,188,241 (GRCm39) |
I177L |
probably benign |
Het |
Vmn1r177 |
T |
C |
7: 23,565,559 (GRCm39) |
T106A |
probably damaging |
Het |
Vmn1r28 |
T |
C |
6: 58,243,039 (GRCm39) |
M294T |
probably benign |
Het |
Zfp518b |
G |
A |
5: 38,829,530 (GRCm39) |
T825I |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,740,194 (GRCm39) |
N690K |
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 |
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 |
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 |
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'- AGTACAAAGACATGAAGGCTCC -3'
(R):5'- CTGCCCTAGTTGATGAAGTGTG -3'
Sequencing Primer
(F):5'- CATGAAGGCTCCAGGGGTG -3'
(R):5'- AAGTGTGTACGGCTGCCTC -3'
|
Posted On |
2019-11-26 |