Incidental Mutation 'IGL02733:Zwilch'
| ID |
305552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zwilch
|
| Ensembl Gene |
ENSMUSG00000032400 |
| Gene Name |
zwilch kinetochore protein |
| Synonyms |
2310031L18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64044426-64080210 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64054118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 526
(N526K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122091]
[ENSMUST00000143421]
[ENSMUST00000176299]
[ENSMUST00000176794]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122091
AA Change: N526K
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: N526K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
589 |
6e-206 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138075
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148428
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152824
|
| SMART Domains |
Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
51 |
7.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176299
AA Change: N405K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: N405K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176794
AA Change: N502K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: N502K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
257 |
8e-67 |
PFAM |
|
Pfam:DUF2352
|
254 |
568 |
4.4e-131 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176848
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
T |
A |
4: 49,447,793 (GRCm39) |
T245S |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,646 (GRCm39) |
I718V |
probably benign |
Het |
| Cbs |
T |
A |
17: 31,844,005 (GRCm39) |
N209Y |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,302,300 (GRCm39) |
C955R |
probably damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,662 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,536,079 (GRCm39) |
R59Q |
possibly damaging |
Het |
| Dtx1 |
A |
G |
5: 120,819,500 (GRCm39) |
L566P |
probably damaging |
Het |
| Fgf14 |
G |
T |
14: 124,221,213 (GRCm39) |
P197Q |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,094 (GRCm39) |
R83G |
probably benign |
Het |
| Gcc1 |
G |
A |
6: 28,420,661 (GRCm39) |
Q66* |
probably null |
Het |
| Gypc |
T |
C |
18: 32,692,879 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,819 (GRCm39) |
A1225V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,358,274 (GRCm39) |
T2452A |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,943,152 (GRCm39) |
I2V |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,394,025 (GRCm39) |
I14T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,658,677 (GRCm39) |
D400V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,711,184 (GRCm39) |
Y3206H |
probably damaging |
Het |
| Lce1k |
T |
A |
3: 92,714,192 (GRCm39) |
|
probably benign |
Het |
| Mcpt4 |
C |
T |
14: 56,298,124 (GRCm39) |
M142I |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,775,076 (GRCm39) |
E2168G |
probably benign |
Het |
| Myom3 |
G |
T |
4: 135,541,614 (GRCm39) |
E1402* |
probably null |
Het |
| Nfyb |
G |
T |
10: 82,590,867 (GRCm39) |
Q55K |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,284,136 (GRCm39) |
K137E |
possibly damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,220 (GRCm39) |
D406E |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,594 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
C |
18: 42,781,793 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 31,279,701 (GRCm39) |
T178A |
probably damaging |
Het |
| Prr11 |
C |
T |
11: 86,994,371 (GRCm39) |
A92T |
possibly damaging |
Het |
| Racgap1 |
G |
T |
15: 99,537,585 (GRCm39) |
S67R |
probably damaging |
Het |
| Scn10a |
G |
A |
9: 119,445,771 (GRCm39) |
P1462S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,147,747 (GRCm39) |
E29G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,021 (GRCm39) |
T133S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,430,296 (GRCm39) |
H269R |
possibly damaging |
Het |
|
| Other mutations in Zwilch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02315:Zwilch
|
APN |
9 |
64,057,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02365:Zwilch
|
APN |
9 |
64,068,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02818:Zwilch
|
APN |
9 |
64,057,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1171:Zwilch
|
UTSW |
9 |
64,065,999 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1913:Zwilch
|
UTSW |
9 |
64,068,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Zwilch
|
UTSW |
9 |
64,060,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2079:Zwilch
|
UTSW |
9 |
64,060,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Zwilch
|
UTSW |
9 |
64,063,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4171:Zwilch
|
UTSW |
9 |
64,065,997 (GRCm39) |
nonsense |
probably null |
|
|
R4298:Zwilch
|
UTSW |
9 |
64,062,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4299:Zwilch
|
UTSW |
9 |
64,062,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4901:Zwilch
|
UTSW |
9 |
64,070,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Zwilch
|
UTSW |
9 |
64,060,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Zwilch
|
UTSW |
9 |
64,060,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5215:Zwilch
|
UTSW |
9 |
64,054,156 (GRCm39) |
missense |
probably benign |
|
|
R5413:Zwilch
|
UTSW |
9 |
64,075,892 (GRCm39) |
splice site |
probably null |
|
|
R5865:Zwilch
|
UTSW |
9 |
64,080,190 (GRCm39) |
start gained |
probably null |
|
|
R6221:Zwilch
|
UTSW |
9 |
64,068,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Zwilch
|
UTSW |
9 |
64,060,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Zwilch
|
UTSW |
9 |
64,069,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6995:Zwilch
|
UTSW |
9 |
64,072,731 (GRCm39) |
nonsense |
probably null |
|
|
R7104:Zwilch
|
UTSW |
9 |
64,068,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Zwilch
|
UTSW |
9 |
64,056,546 (GRCm39) |
intron |
probably benign |
|
|
R7691:Zwilch
|
UTSW |
9 |
64,063,373 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7743:Zwilch
|
UTSW |
9 |
64,060,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:Zwilch
|
UTSW |
9 |
64,060,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9068:Zwilch
|
UTSW |
9 |
64,075,942 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9545:Zwilch
|
UTSW |
9 |
64,051,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9619:Zwilch
|
UTSW |
9 |
64,057,440 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9711:Zwilch
|
UTSW |
9 |
64,063,303 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9777:Zwilch
|
UTSW |
9 |
64,054,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation