Incidental Mutation 'R3790:Lnpk'
| ID |
272471 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
74350635-74409779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74352607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 358
(S358R)
|
| 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: S358R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: S358R
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
| Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
| Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
| Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
| Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
| Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
| Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
| Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
| Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
| Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
| Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCCAGTTGAAGGCACATGG -3'
(R):5'- TCTCTAAGTGCTATGCAATAGAGTG -3'
Sequencing Primer
(F):5'- GTCACCAAAGATTCTTCACTTGG -3'
(R):5'- TGTTAGACCATTCTGTCGT -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation