Incidental Mutation 'IGL02653:Lnpk'
| ID |
302235 |
| 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: 0.874)
|
| Stock # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
74350635-74409779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74378392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064503]
[ENSMUST00000102676]
[ENSMUST00000111993]
[ENSMUST00000130232]
[ENSMUST00000130586]
|
| AlphaFold |
Q7TQ95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064503
AA Change: V123A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: V123A
| 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 |
probably damaging
Transcript: ENSMUST00000102676
AA Change: V123A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099737
Gene: ENSMUSG00000009207
AA Change: V123A
| 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 |
probably damaging
Transcript: ENSMUST00000111993
AA Change: V123A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107624
Gene: ENSMUSG00000009207
AA Change: V123A
| 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 |
probably damaging
Transcript: ENSMUST00000130232
AA Change: V123A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120494
Gene: ENSMUSG00000009207
AA Change: V123A
| 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 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130586
AA Change: V123A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122488
Gene: ENSMUSG00000009207
AA Change: V123A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145933
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
| Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
probably damaging |
Het |
|
| Other mutations in Lnpk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02166:Lnpk
|
APN |
2 |
74,360,061 (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 |
Incidental Mutation