Incidental Mutation 'R4547:Lnpk'
| ID |
333807 |
| 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 |
041781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R4547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
74350635-74409779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 74352630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 351
(E351Q)
|
| 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: E351Q
PolyPhen 2
Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000066891
Gene: ENSMUSG00000009207
AA Change: E351Q
| 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: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (55/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
G |
T |
14: 54,883,124 (GRCm39) |
A909E |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,913,357 (GRCm39) |
E23G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,817,032 (GRCm39) |
R148G |
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Aspm |
T |
C |
1: 139,405,925 (GRCm39) |
V1604A |
possibly damaging |
Het |
| Cdh1 |
C |
A |
8: 107,390,535 (GRCm39) |
T625K |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,946,771 (GRCm39) |
T1313I |
probably damaging |
Het |
| Cfhr3 |
T |
G |
1: 139,512,651 (GRCm39) |
|
noncoding transcript |
Het |
| Csmd1 |
T |
C |
8: 16,441,811 (GRCm39) |
D351G |
possibly damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,977,393 (GRCm39) |
T861S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,169,388 (GRCm39) |
D404E |
probably benign |
Het |
| Dpm1 |
A |
G |
2: 168,065,073 (GRCm39) |
L88P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 39,005,432 (GRCm39) |
F1944L |
probably damaging |
Het |
| Frmd4a |
C |
A |
2: 4,477,956 (GRCm39) |
L46I |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hace1 |
T |
A |
10: 45,548,651 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,537,271 (GRCm39) |
V867E |
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,661,878 (GRCm39) |
D364G |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,227,467 (GRCm39) |
V567I |
probably benign |
Het |
| Mrm2 |
T |
C |
5: 140,314,251 (GRCm39) |
T195A |
probably benign |
Het |
| Naaa |
C |
T |
5: 92,411,445 (GRCm39) |
|
probably null |
Het |
| Ncdn |
A |
G |
4: 126,640,467 (GRCm39) |
F542S |
probably damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,036,291 (GRCm39) |
N715D |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,382,968 (GRCm39) |
|
probably benign |
Het |
| Or10ag57 |
G |
A |
2: 87,218,504 (GRCm39) |
V152I |
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,854 (GRCm38) |
I76N |
probably damaging |
Het |
| Psg25 |
A |
G |
7: 18,258,629 (GRCm39) |
L349P |
probably damaging |
Het |
| Rnf213 |
G |
T |
11: 119,370,496 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,908,023 (GRCm39) |
K4N |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,500,119 (GRCm39) |
L211S |
probably benign |
Het |
| Slc44a4 |
T |
A |
17: 35,146,731 (GRCm39) |
F285I |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,361,625 (GRCm39) |
V398A |
possibly damaging |
Het |
| Smc2 |
T |
C |
4: 52,467,866 (GRCm39) |
S737P |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,737 (GRCm39) |
K30E |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,785,170 (GRCm39) |
I229V |
possibly damaging |
Het |
| Tac1 |
A |
G |
6: 7,557,216 (GRCm39) |
D74G |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,490,771 (GRCm39) |
V607A |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,837,564 (GRCm39) |
V582A |
possibly damaging |
Het |
| Traf4 |
A |
G |
11: 78,051,863 (GRCm39) |
I207T |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,819,068 (GRCm39) |
R449G |
possibly damaging |
Het |
| Ubn1 |
G |
A |
16: 4,889,956 (GRCm39) |
R407H |
probably damaging |
Het |
| Vmn1r19 |
C |
T |
6: 57,381,774 (GRCm39) |
T109I |
possibly damaging |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,087 (GRCm39) |
T100A |
probably null |
Het |
| Vsig8 |
A |
T |
1: 172,388,163 (GRCm39) |
M44L |
probably benign |
Het |
| Zbed5 |
T |
A |
5: 129,931,692 (GRCm39) |
L547* |
probably null |
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 |
|
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'- AACAGGTGACTTGGCTTCG -3'
(R):5'- ACAGGCCAAACTCATTGTGTATG -3'
Sequencing Primer
(F):5'- ACTTGGCTTCGTTTGTTGAGGTTTC -3'
(R):5'- GTTAGACCATTCTGTCGTT -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation