Incidental Mutation 'IGL02166:Lnpk'
ID |
282715 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lnpk
|
Ensembl Gene |
ENSMUSG00000009207 |
Gene Name |
lunapark, ER junction formation factor |
Synonyms |
4921514L11Rik, Lnpk1, lunapark, Lnp, 9530051D01Rik, 2310011O18Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.849)
|
Stock # |
IGL02166
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
74350635-74409779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 74360061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064503]
[ENSMUST00000102676]
[ENSMUST00000111993]
[ENSMUST00000130586]
|
AlphaFold |
Q7TQ95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064503
AA Change: E318G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066891 Gene: ENSMUSG00000009207 AA Change: E318G
Domain | Start | End | E-Value | Type |
coiled coil region
|
15 |
41 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
coiled coil region
|
100 |
129 |
N/A |
INTRINSIC |
low complexity region
|
177 |
198 |
N/A |
INTRINSIC |
low complexity region
|
228 |
245 |
N/A |
INTRINSIC |
Pfam:zinc_ribbon_10
|
250 |
300 |
7.4e-25 |
PFAM |
low complexity region
|
383 |
401 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102676
AA Change: E318G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099737 Gene: ENSMUSG00000009207 AA Change: E318G
Domain | Start | End | E-Value | Type |
coiled coil region
|
15 |
41 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
coiled coil region
|
100 |
129 |
N/A |
INTRINSIC |
low complexity region
|
177 |
198 |
N/A |
INTRINSIC |
low complexity region
|
228 |
245 |
N/A |
INTRINSIC |
Pfam:DUF2296
|
250 |
300 |
2.1e-25 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111993
AA Change: E318G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107624 Gene: ENSMUSG00000009207 AA Change: E318G
Domain | Start | End | E-Value | Type |
coiled coil region
|
15 |
41 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
coiled coil region
|
100 |
129 |
N/A |
INTRINSIC |
low complexity region
|
177 |
198 |
N/A |
INTRINSIC |
low complexity region
|
228 |
245 |
N/A |
INTRINSIC |
Pfam:DUF2296
|
250 |
300 |
2.1e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127168
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130586
|
SMART Domains |
Protein: ENSMUSP00000122488 Gene: ENSMUSG00000009207
Domain | Start | End | E-Value | Type |
coiled coil region
|
15 |
41 |
N/A |
INTRINSIC |
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
coiled coil region
|
100 |
129 |
N/A |
INTRINSIC |
low complexity region
|
177 |
198 |
N/A |
INTRINSIC |
low complexity region
|
228 |
245 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134641
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: A semidominant X-ray-induced mutation results in severe length reductions of forelimb and hindlimb zeugopods, near absence of ulna, abnormal articulations in the carpus and tarsus, and genetic background-sensitive postnatal survival; heterozygous males do not breed and show increased bleeding times. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aopep |
A |
G |
13: 63,163,267 (GRCm39) |
H96R |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,917,083 (GRCm39) |
D344G |
probably damaging |
Het |
Ciao3 |
A |
G |
17: 25,999,294 (GRCm39) |
D236G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,594,914 (GRCm39) |
I1399V |
probably benign |
Het |
Col4a1 |
A |
T |
8: 11,294,509 (GRCm39) |
|
probably benign |
Het |
Crtc3 |
C |
T |
7: 80,327,147 (GRCm39) |
G60R |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,594,999 (GRCm39) |
V701M |
probably damaging |
Het |
Eif3b |
T |
A |
5: 140,425,705 (GRCm39) |
C632S |
possibly damaging |
Het |
Ephb3 |
G |
A |
16: 21,039,499 (GRCm39) |
R417Q |
probably damaging |
Het |
Fpr3 |
T |
C |
17: 18,190,726 (GRCm39) |
|
probably benign |
Het |
Hpdl |
A |
G |
4: 116,678,149 (GRCm39) |
V104A |
probably damaging |
Het |
Ighv1-55 |
T |
C |
12: 115,171,840 (GRCm39) |
S76G |
probably benign |
Het |
Ikbip |
T |
C |
10: 90,931,652 (GRCm39) |
S99P |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,634 (GRCm39) |
T803M |
probably damaging |
Het |
Nxf2 |
C |
A |
X: 133,857,878 (GRCm39) |
W89L |
possibly damaging |
Het |
Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
Or5d46 |
A |
T |
2: 88,170,022 (GRCm39) |
I38F |
probably damaging |
Het |
Or6c3b |
T |
A |
10: 129,527,782 (GRCm39) |
I43F |
probably benign |
Het |
Osbp2 |
A |
T |
11: 3,667,983 (GRCm39) |
C5S |
probably damaging |
Het |
Ovol2 |
T |
C |
2: 144,147,650 (GRCm39) |
N200S |
possibly damaging |
Het |
Ppp4r1 |
A |
G |
17: 66,120,487 (GRCm39) |
D207G |
probably benign |
Het |
Prdm11 |
C |
T |
2: 92,843,208 (GRCm39) |
V84M |
probably damaging |
Het |
Rspo3 |
T |
A |
10: 29,411,275 (GRCm39) |
E17V |
possibly damaging |
Het |
Scarf2 |
A |
G |
16: 17,621,620 (GRCm39) |
N357D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,323,447 (GRCm39) |
D1447E |
possibly damaging |
Het |
Sdad1 |
G |
A |
5: 92,439,621 (GRCm39) |
T433I |
probably benign |
Het |
Seh1l |
A |
G |
18: 67,918,093 (GRCm39) |
N149S |
probably damaging |
Het |
Sigirr |
T |
C |
7: 140,672,140 (GRCm39) |
I268M |
probably benign |
Het |
Slc35d2 |
A |
G |
13: 64,246,162 (GRCm39) |
F282S |
probably damaging |
Het |
Slc4a1 |
A |
T |
11: 102,245,159 (GRCm39) |
M596K |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,017,797 (GRCm39) |
E494K |
probably damaging |
Het |
Stk32b |
C |
A |
5: 37,656,374 (GRCm39) |
|
probably benign |
Het |
Tex13b |
T |
C |
X: 139,713,475 (GRCm39) |
E122G |
probably damaging |
Het |
Tmem35a |
A |
G |
X: 133,205,357 (GRCm39) |
N91S |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,047,313 (GRCm39) |
V841A |
possibly damaging |
Het |
Trdv2-1 |
A |
G |
14: 54,184,068 (GRCm39) |
D100G |
probably benign |
Het |
Tshz3 |
T |
C |
7: 36,468,346 (GRCm39) |
S112P |
probably benign |
Het |
Tssc4 |
T |
C |
7: 142,623,938 (GRCm39) |
M82T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,562,723 (GRCm39) |
S28744P |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vim |
T |
C |
2: 13,579,405 (GRCm39) |
S55P |
probably damaging |
Het |
Zmat5 |
T |
A |
11: 4,687,363 (GRCm39) |
Y139N |
possibly damaging |
Het |
Zswim2 |
G |
A |
2: 83,745,750 (GRCm39) |
Q563* |
probably null |
Het |
|
Other mutations in Lnpk |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02653:Lnpk
|
APN |
2 |
74,378,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R0173:Lnpk
|
UTSW |
2 |
74,381,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Lnpk
|
UTSW |
2 |
74,367,633 (GRCm39) |
splice site |
probably benign |
|
R1579:Lnpk
|
UTSW |
2 |
74,378,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Lnpk
|
UTSW |
2 |
74,399,373 (GRCm39) |
missense |
probably benign |
0.13 |
R2698:Lnpk
|
UTSW |
2 |
74,367,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3788:Lnpk
|
UTSW |
2 |
74,352,607 (GRCm39) |
missense |
probably benign |
0.00 |
R3789:Lnpk
|
UTSW |
2 |
74,352,607 (GRCm39) |
missense |
probably benign |
0.00 |
R3790:Lnpk
|
UTSW |
2 |
74,352,607 (GRCm39) |
missense |
probably benign |
0.00 |
R4198:Lnpk
|
UTSW |
2 |
74,399,453 (GRCm39) |
missense |
probably damaging |
0.99 |
R4547:Lnpk
|
UTSW |
2 |
74,352,630 (GRCm39) |
missense |
probably benign |
0.14 |
R5244:Lnpk
|
UTSW |
2 |
74,362,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R5347:Lnpk
|
UTSW |
2 |
74,403,935 (GRCm39) |
start gained |
probably benign |
|
R5516:Lnpk
|
UTSW |
2 |
74,378,132 (GRCm39) |
intron |
probably benign |
|
R5610:Lnpk
|
UTSW |
2 |
74,378,369 (GRCm39) |
missense |
probably benign |
0.02 |
R5859:Lnpk
|
UTSW |
2 |
74,399,372 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5984:Lnpk
|
UTSW |
2 |
74,352,543 (GRCm39) |
missense |
probably benign |
0.00 |
R6788:Lnpk
|
UTSW |
2 |
74,360,020 (GRCm39) |
missense |
probably benign |
0.02 |
R7597:Lnpk
|
UTSW |
2 |
74,399,316 (GRCm39) |
missense |
probably benign |
0.28 |
R8062:Lnpk
|
UTSW |
2 |
74,381,407 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8103:Lnpk
|
UTSW |
2 |
74,352,599 (GRCm39) |
missense |
probably benign |
0.10 |
R8916:Lnpk
|
UTSW |
2 |
74,358,486 (GRCm39) |
missense |
probably benign |
0.18 |
R9463:Lnpk
|
UTSW |
2 |
74,381,403 (GRCm39) |
critical splice donor site |
probably null |
|
R9609:Lnpk
|
UTSW |
2 |
74,401,298 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Lnpk
|
UTSW |
2 |
74,403,906 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Posted On |
2015-04-16 |