Incidental Mutation 'R5984:Lnpk'
| ID |
481544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnpk
|
| Ensembl Gene |
ENSMUSG00000009207 |
| Gene Name |
lunapark, ER junction formation factor |
| Synonyms |
4921514L11Rik, Lnpk1, lunapark, Lnp, 9530051D01Rik, 2310011O18Rik |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.849)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
74350635-74409779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74352543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 380
(S380T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064503]
[ENSMUST00000102676]
[ENSMUST00000111993]
|
| AlphaFold |
Q7TQ95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064503
AA Change: S380T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: S380T
| 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 benign
Transcript: ENSMUST00000102676
|
| SMART Domains |
Protein: ENSMUSP00000099737
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 |
|
Pfam:DUF2296
|
250 |
300 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111993
|
| SMART Domains |
Protein: ENSMUSP00000107624
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 |
|
Pfam:DUF2296
|
250 |
300 |
2.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134641
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Mff |
A |
G |
1: 82,708,848 (GRCm39) |
I66V |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTACAAATATCCAGTTGAAGGC -3'
(R):5'- AAGGTAATGTTAGACCATTCTGTCG -3'
Sequencing Primer
(F):5'- TATCCAGTTGAAGGCACATGG -3'
(R):5'- AGACCATTCTGTCGTTTCTTAGTATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation