Incidental Mutation 'R8779:Kazn'
| ID |
670162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kazn
|
| Ensembl Gene |
ENSMUSG00000040606 |
| Gene Name |
kazrin, periplakin interacting protein |
| Synonyms |
9030409G11Rik, 2310007B04Rik |
| MMRRC Submission |
068721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R8779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141829701-142205056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141881856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 128
(E128G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036476]
[ENSMUST00000129032]
|
| AlphaFold |
Q69ZS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036476
AA Change: E198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038835
Gene: ENSMUSG00000040606
AA Change: E198G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
88 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
113 |
248 |
8e-3 |
SMART |
|
low complexity region
|
368 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129032
AA Change: E96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115897
Gene: ENSMUSG00000040606
AA Change: E96G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116071
Gene: ENSMUSG00000040606
AA Change: E128G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000133972
Gene: ENSMUSG00000040606
AA Change: E128G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134498
Gene: ENSMUSG00000040606
AA Change: E22G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134631
Gene: ENSMUSG00000040606
AA Change: E128G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
307 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
A |
5: 139,259,173 (GRCm39) |
C338F |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,319,973 (GRCm39) |
N256S |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,747,719 (GRCm39) |
I1152V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,758,751 (GRCm39) |
N149K |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,391,809 (GRCm39) |
D1727N |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,171,920 (GRCm39) |
F88Y |
probably benign |
Het |
| Cpox |
G |
C |
16: 58,491,229 (GRCm39) |
E147Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,660,845 (GRCm39) |
F902S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,162,900 (GRCm39) |
K128E |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,898 (GRCm39) |
I2517F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,037,245 (GRCm39) |
N48S |
probably benign |
Het |
| Gcfc2 |
C |
T |
6: 81,925,298 (GRCm39) |
T571I |
probably benign |
Het |
| Gem |
T |
C |
4: 11,711,166 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,869 (GRCm38) |
N118K |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,311 (GRCm39) |
W57R |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,925 (GRCm39) |
E30G |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,440 (GRCm39) |
D92E |
probably benign |
Het |
| Jakmip1 |
G |
C |
5: 37,386,672 (GRCm39) |
E1428Q |
unknown |
Het |
| Myo3a |
C |
A |
2: 22,250,404 (GRCm39) |
Y90* |
probably null |
Het |
| Npas2 |
A |
C |
1: 39,377,267 (GRCm39) |
D543A |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,397 (GRCm39) |
T137A |
possibly damaging |
Het |
| Or5v1 |
A |
G |
17: 37,809,718 (GRCm39) |
M59V |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,636 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,835 (GRCm39) |
R410L |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,384,292 (GRCm39) |
S656P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,518,459 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scn1a |
C |
T |
2: 66,181,257 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,948,457 (GRCm39) |
S601P |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,992,121 (GRCm39) |
V144A |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,995,688 (GRCm39) |
I489T |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,366 (GRCm39) |
E575G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,276,297 (GRCm39) |
D545G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,103,218 (GRCm39) |
C137Y |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,267,692 (GRCm39) |
K575* |
probably null |
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 |
|
|
R5052: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 |
|
|
|
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'- CAACTCAGGAGTGTCACACAG -3'
(R):5'- GTGACCACCCCATAGCTTTC -3'
Sequencing Primer
(F):5'- GGAGTGTCACACAGCCCAC -3'
(R):5'- ACCTCACACCAGGGCTTTCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation