Incidental Mutation 'R5052:Kazn'
| ID |
394690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kazn
|
| Ensembl Gene |
ENSMUSG00000040606 |
| Gene Name |
kazrin, periplakin interacting protein |
| Synonyms |
9030409G11Rik, 2310007B04Rik |
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141829701-142205056 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 141845514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
Q69ZS8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135922
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155023
AA Change: H357Y
|
| SMART Domains |
Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: H357Y
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
SAM
|
367 |
435 |
6.32e-6 |
SMART |
|
SAM
|
444 |
512 |
4.17e-6 |
SMART |
|
SAM
|
533 |
602 |
3.37e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173068
|
| SMART Domains |
Protein: ENSMUSP00000134498
Gene: ENSMUSG00000040606
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
201 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2081 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice are viable, fertile and grossly normal with no obvious defects in skin development or homeostasis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
Het |
|
| Other mutations in Kazn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01721:Kazn
|
APN |
4 |
141,886,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01959:Kazn
|
APN |
4 |
141,878,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Kazn
|
APN |
4 |
141,874,410 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02351:Kazn
|
APN |
4 |
141,874,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02358:Kazn
|
APN |
4 |
141,874,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1173:Kazn
|
UTSW |
4 |
141,886,349 (GRCm39) |
splice site |
probably benign |
|
|
R2206:Kazn
|
UTSW |
4 |
141,845,603 (GRCm39) |
splice site |
probably null |
|
|
R3406:Kazn
|
UTSW |
4 |
141,966,506 (GRCm39) |
start gained |
probably benign |
|
|
R4007:Kazn
|
UTSW |
4 |
141,834,203 (GRCm39) |
missense |
unknown |
|
|
R4050:Kazn
|
UTSW |
4 |
141,834,215 (GRCm39) |
missense |
unknown |
|
|
R4598:Kazn
|
UTSW |
4 |
141,937,403 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4606:Kazn
|
UTSW |
4 |
141,845,599 (GRCm39) |
splice site |
probably null |
|
|
R4631:Kazn
|
UTSW |
4 |
141,845,471 (GRCm39) |
unclassified |
probably benign |
|
|
R4866:Kazn
|
UTSW |
4 |
141,832,216 (GRCm39) |
missense |
unknown |
|
|
R5050:Kazn
|
UTSW |
4 |
141,845,514 (GRCm39) |
unclassified |
probably benign |
|
|
R5054:Kazn
|
UTSW |
4 |
141,835,957 (GRCm39) |
missense |
unknown |
|
|
R5758:Kazn
|
UTSW |
4 |
141,868,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6152:Kazn
|
UTSW |
4 |
141,836,598 (GRCm39) |
missense |
unknown |
|
|
R6284:Kazn
|
UTSW |
4 |
141,844,508 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7289:Kazn
|
UTSW |
4 |
141,844,486 (GRCm39) |
missense |
|
|
|
R7414:Kazn
|
UTSW |
4 |
141,836,649 (GRCm39) |
missense |
|
|
|
R7663:Kazn
|
UTSW |
4 |
141,832,209 (GRCm39) |
missense |
|
|
|
R7814:Kazn
|
UTSW |
4 |
141,937,481 (GRCm39) |
missense |
unknown |
|
|
R8031:Kazn
|
UTSW |
4 |
141,881,862 (GRCm39) |
missense |
|
|
|
R8184:Kazn
|
UTSW |
4 |
141,845,441 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8315:Kazn
|
UTSW |
4 |
141,869,002 (GRCm39) |
missense |
|
|
|
R8779:Kazn
|
UTSW |
4 |
141,881,856 (GRCm39) |
missense |
|
|
|
R8990:Kazn
|
UTSW |
4 |
141,868,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:Kazn
|
UTSW |
4 |
141,845,436 (GRCm39) |
missense |
|
|
|
Z1177:Kazn
|
UTSW |
4 |
141,881,815 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTATAACAGTCCCAGGAGG -3'
(R):5'- CTCTTTGGGGAAGCAGAGAG -3'
Sequencing Primer
(F):5'- CAGGAGGGTTCAGAGGCATACC -3'
(R):5'- GTACCAGGAGAGCCACTTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation