Incidental Mutation 'R5765:Luzp1'
| ID |
446214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luzp1
|
| Ensembl Gene |
ENSMUSG00000001089 |
| Gene Name |
leucine zipper protein 1 |
| Synonyms |
2700072H04Rik, Luzp |
| MMRRC Submission |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R5765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136197072-136282091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136268340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 188
(S188P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001116]
[ENSMUST00000063021]
[ENSMUST00000105849]
[ENSMUST00000129230]
[ENSMUST00000168936]
[ENSMUST00000170102]
|
| AlphaFold |
Q8R4U7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001116
AA Change: S188P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000001116
Gene: ENSMUSG00000001089
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063021
AA Change: S188P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000060619
Gene: ENSMUSG00000001089
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105849
AA Change: S188P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101475
Gene: ENSMUSG00000001089
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129230
|
| SMART Domains |
Protein: ENSMUSP00000128591
Gene: ENSMUSG00000001089
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
11 |
57 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168936
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170102
AA Change: S188P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130758
Gene: ENSMUSG00000001089
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
96 |
233 |
4e-3 |
SMART |
|
coiled coil region
|
264 |
350 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
638 |
9.92e-6 |
PROSPERO |
|
low complexity region
|
756 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
796 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
986 |
1056 |
9.92e-6 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.0792 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,044,066 (GRCm39) |
|
probably benign |
Het |
| Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
| Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,226 (GRCm39) |
D262G |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,714 (GRCm39) |
T573A |
probably benign |
Het |
| Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,275,249 (GRCm39) |
T103A |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,147,171 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
Het |
|
| Other mutations in Luzp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Luzp1
|
APN |
4 |
136,270,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01766:Luzp1
|
APN |
4 |
136,270,084 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01868:Luzp1
|
APN |
4 |
136,270,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03230:Luzp1
|
APN |
4 |
136,270,189 (GRCm39) |
missense |
probably benign |
0.02 |
|
FR4548:Luzp1
|
UTSW |
4 |
136,270,499 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
R0106:Luzp1
|
UTSW |
4 |
136,269,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0674:Luzp1
|
UTSW |
4 |
136,270,768 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0676:Luzp1
|
UTSW |
4 |
136,269,996 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1103:Luzp1
|
UTSW |
4 |
136,268,041 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1541:Luzp1
|
UTSW |
4 |
136,270,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Luzp1
|
UTSW |
4 |
136,269,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3924:Luzp1
|
UTSW |
4 |
136,270,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4022:Luzp1
|
UTSW |
4 |
136,269,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4449:Luzp1
|
UTSW |
4 |
136,268,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Luzp1
|
UTSW |
4 |
136,270,708 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5119:Luzp1
|
UTSW |
4 |
136,270,708 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5411:Luzp1
|
UTSW |
4 |
136,270,653 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5659:Luzp1
|
UTSW |
4 |
136,269,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Luzp1
|
UTSW |
4 |
136,267,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Luzp1
|
UTSW |
4 |
136,268,791 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6147:Luzp1
|
UTSW |
4 |
136,268,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Luzp1
|
UTSW |
4 |
136,270,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6200:Luzp1
|
UTSW |
4 |
136,268,577 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6368:Luzp1
|
UTSW |
4 |
136,269,091 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6581:Luzp1
|
UTSW |
4 |
136,267,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Luzp1
|
UTSW |
4 |
136,272,609 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6932:Luzp1
|
UTSW |
4 |
136,268,124 (GRCm39) |
nonsense |
probably null |
|
|
R6998:Luzp1
|
UTSW |
4 |
136,270,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Luzp1
|
UTSW |
4 |
136,268,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Luzp1
|
UTSW |
4 |
136,269,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Luzp1
|
UTSW |
4 |
136,270,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Luzp1
|
UTSW |
4 |
136,269,195 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8292:Luzp1
|
UTSW |
4 |
136,269,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8511:Luzp1
|
UTSW |
4 |
136,268,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Luzp1
|
UTSW |
4 |
136,270,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9094:Luzp1
|
UTSW |
4 |
136,272,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9402:Luzp1
|
UTSW |
4 |
136,270,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9704:Luzp1
|
UTSW |
4 |
136,268,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9756:Luzp1
|
UTSW |
4 |
136,270,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF028:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
RF033:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Luzp1
|
UTSW |
4 |
136,270,507 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCAGAAACGAATGGTTG -3'
(R):5'- AAATGCCGTCCTCTATCCGTAG -3'
Sequencing Primer
(F):5'- GCTTCAGAAACGAATGGTTGATTTAG -3'
(R):5'- CCGTAGGTCATTCCTTTCCAGAAAAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation