Incidental Mutation 'IGL02315:Zwilch'
| ID |
288009 |
| 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 # |
IGL02315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64044426-64080210 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64057549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 285
(S285P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122091]
[ENSMUST00000143421]
[ENSMUST00000176299]
[ENSMUST00000176794]
[ENSMUST00000177045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122091
AA Change: S406P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: S406P
| 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 |
unknown
Transcript: ENSMUST00000152824
AA Change: S1P
|
| SMART Domains |
Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400
AA Change: S1P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
51 |
7.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176299
AA Change: S285P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: S285P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176794
AA Change: S382P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: S382P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
257 |
8e-67 |
PFAM |
|
Pfam:DUF2352
|
254 |
568 |
4.4e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177045
|
| SMART Domains |
Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
19 |
303 |
2.2e-93 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,185 (GRCm39) |
I162F |
probably damaging |
Het |
| Akap8 |
T |
C |
17: 32,524,475 (GRCm39) |
D607G |
probably benign |
Het |
| Ap2b1 |
G |
A |
11: 83,227,625 (GRCm39) |
V327I |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,563,290 (GRCm39) |
V218A |
probably damaging |
Het |
| Cfap157 |
T |
A |
2: 32,668,177 (GRCm39) |
D421V |
probably benign |
Het |
| Ctsm |
A |
G |
13: 61,687,462 (GRCm39) |
V100A |
probably benign |
Het |
| Cwf19l2 |
C |
T |
9: 3,410,030 (GRCm39) |
T53I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,237,746 (GRCm39) |
C3663R |
probably damaging |
Het |
| Fbxo10 |
T |
A |
4: 45,062,469 (GRCm39) |
H19L |
probably benign |
Het |
| Ghitm |
A |
T |
14: 36,853,521 (GRCm39) |
N106K |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,006,983 (GRCm39) |
F1194L |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,955,386 (GRCm39) |
|
probably benign |
Het |
| Ighv1-67 |
C |
T |
12: 115,567,687 (GRCm39) |
G56D |
probably benign |
Het |
| Ikzf4 |
A |
G |
10: 128,470,014 (GRCm39) |
F502S |
probably damaging |
Het |
| Lrrc24 |
A |
T |
15: 76,602,506 (GRCm39) |
F126L |
probably damaging |
Het |
| Mapt |
G |
A |
11: 104,218,904 (GRCm39) |
R355Q |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,817,126 (GRCm39) |
V65E |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,291 (GRCm39) |
E850G |
probably damaging |
Het |
| Myh9 |
C |
A |
15: 77,654,173 (GRCm39) |
V1211L |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,297,744 (GRCm39) |
D764V |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,353 (GRCm39) |
V294I |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,549,021 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,566,620 (GRCm39) |
|
probably benign |
Het |
| Pramel11 |
T |
C |
4: 143,624,498 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
A |
G |
9: 96,721,196 (GRCm39) |
L56P |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Skida1 |
T |
C |
2: 18,050,816 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,849 (GRCm39) |
S210P |
possibly damaging |
Het |
| Slit2 |
C |
T |
5: 48,145,213 (GRCm39) |
T71M |
probably damaging |
Het |
| Spem2 |
A |
T |
11: 69,708,191 (GRCm39) |
L258Q |
probably damaging |
Het |
| Stxbp2 |
C |
T |
8: 3,685,607 (GRCm39) |
|
probably benign |
Het |
| Vit |
G |
A |
17: 78,930,087 (GRCm39) |
V351I |
possibly damaging |
Het |
| Zzef1 |
A |
T |
11: 72,766,083 (GRCm39) |
R1537* |
probably null |
Het |
|
| Other mutations in Zwilch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02365:Zwilch
|
APN |
9 |
64,068,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02733:Zwilch
|
APN |
9 |
64,054,118 (GRCm39) |
missense |
probably benign |
0.12 |
|
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