Incidental Mutation 'R7104:Zwilch'
ID |
551060 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zwilch
|
Ensembl Gene |
ENSMUSG00000032400 |
Gene Name |
zwilch kinetochore protein |
Synonyms |
2310031L18Rik |
MMRRC Submission |
045196-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7104 (G1)
|
Quality Score |
211.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
64044426-64080210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64068658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 203
(S203P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122091]
[ENSMUST00000130127]
[ENSMUST00000176299]
[ENSMUST00000176378]
[ENSMUST00000176794]
[ENSMUST00000177045]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122091
AA Change: S203P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112790 Gene: ENSMUSG00000032400 AA Change: S203P
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
38 |
589 |
6e-206 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124301
|
SMART Domains |
Protein: ENSMUSP00000134966 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
PDB:3IF8|A
|
3 |
74 |
3e-31 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130127
|
SMART Domains |
Protein: ENSMUSP00000116187 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
72 |
154 |
8e-30 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176299
AA Change: S82P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135585 Gene: ENSMUSG00000032400 AA Change: S82P
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176378
|
SMART Domains |
Protein: ENSMUSP00000134782 Gene: ENSMUSG00000032400
Domain | Start | End | E-Value | Type |
PDB:3IF8|A
|
3 |
74 |
1e-31 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176794
AA Change: S203P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134850 Gene: ENSMUSG00000032400 AA Change: S203P
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
38 |
257 |
8e-67 |
PFAM |
Pfam:DUF2352
|
254 |
568 |
4.4e-131 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177045
AA Change: S184P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135328 Gene: ENSMUSG00000032400 AA Change: S184P
Domain | Start | End | E-Value | Type |
Pfam:DUF2352
|
19 |
303 |
2.2e-93 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl2 |
A |
G |
2: 90,627,891 (GRCm39) |
E232G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,670 (GRCm39) |
S480P |
probably benign |
Het |
Cdk14 |
A |
G |
5: 5,245,325 (GRCm39) |
I166T |
possibly damaging |
Het |
Cdk5rap2 |
G |
T |
4: 70,267,393 (GRCm39) |
F358L |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,223,928 (GRCm39) |
L897P |
possibly damaging |
Het |
Cytip |
A |
G |
2: 58,049,986 (GRCm39) |
S28P |
probably benign |
Het |
Dennd5b |
C |
T |
6: 148,946,102 (GRCm39) |
R503Q |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,171,159 (GRCm39) |
C480S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,785,711 (GRCm39) |
D189G |
probably damaging |
Het |
Engase |
G |
A |
11: 118,372,121 (GRCm39) |
V138M |
probably damaging |
Het |
Esyt3 |
C |
A |
9: 99,220,840 (GRCm39) |
R121L |
probably damaging |
Het |
Frem1 |
T |
G |
4: 82,858,918 (GRCm39) |
I1516L |
probably benign |
Het |
Gatad2b |
T |
A |
3: 90,258,724 (GRCm39) |
I249N |
probably damaging |
Het |
Grk6 |
T |
C |
13: 55,602,219 (GRCm39) |
S383P |
probably benign |
Het |
Hectd1 |
C |
T |
12: 51,874,134 (GRCm39) |
|
probably null |
Het |
Hipk2 |
A |
G |
6: 38,795,579 (GRCm39) |
L230P |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,310,814 (GRCm39) |
Q1018L |
probably benign |
Het |
Itgad |
T |
C |
7: 127,797,550 (GRCm39) |
F927S |
probably benign |
Het |
Itgb3bp |
A |
G |
4: 99,702,335 (GRCm39) |
V3A |
probably damaging |
Het |
Kcnh7 |
G |
T |
2: 62,618,031 (GRCm39) |
A486D |
possibly damaging |
Het |
Krt1c |
T |
C |
15: 101,723,522 (GRCm39) |
T318A |
probably benign |
Het |
Ndrg1 |
A |
G |
15: 66,818,377 (GRCm39) |
F77S |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,068,708 (GRCm39) |
L203* |
probably null |
Het |
Nos1 |
T |
A |
5: 118,085,496 (GRCm39) |
C1275S |
probably damaging |
Het |
Or14a256 |
T |
C |
7: 86,264,900 (GRCm39) |
S318G |
probably null |
Het |
Or4a69 |
A |
G |
2: 89,313,458 (GRCm39) |
V7A |
possibly damaging |
Het |
Or5an9 |
T |
C |
19: 12,187,242 (GRCm39) |
I104T |
possibly damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,716 (GRCm39) |
T216A |
possibly damaging |
Het |
Or5j3 |
T |
A |
2: 86,128,564 (GRCm39) |
S135T |
probably benign |
Het |
Or8b12b |
A |
T |
9: 37,684,437 (GRCm39) |
N161Y |
possibly damaging |
Het |
Pip4k2b |
T |
C |
11: 97,623,542 (GRCm39) |
M67V |
possibly damaging |
Het |
Polq |
C |
A |
16: 36,909,715 (GRCm39) |
Y2366* |
probably null |
Het |
Prg3 |
T |
C |
2: 84,819,097 (GRCm39) |
S8P |
probably benign |
Het |
Prl7c1 |
A |
T |
13: 27,962,952 (GRCm39) |
L17* |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,479 (GRCm39) |
S51R |
probably damaging |
Het |
Pttg1 |
G |
C |
11: 43,311,976 (GRCm39) |
P160A |
probably benign |
Het |
Rbfox1 |
C |
A |
16: 7,170,867 (GRCm39) |
R276S |
possibly damaging |
Het |
Rnase2a |
T |
G |
14: 51,492,988 (GRCm39) |
M126L |
probably benign |
Het |
Secisbp2 |
A |
T |
13: 51,810,943 (GRCm39) |
K202* |
probably null |
Het |
Sema6c |
A |
G |
3: 95,076,156 (GRCm39) |
H236R |
possibly damaging |
Het |
Septin12 |
A |
G |
16: 4,809,857 (GRCm39) |
L181P |
probably damaging |
Het |
Shc3 |
A |
T |
13: 51,585,241 (GRCm39) |
V458D |
possibly damaging |
Het |
Tecta |
A |
G |
9: 42,278,239 (GRCm39) |
Y1090H |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,379,429 (GRCm39) |
N998K |
|
Het |
Tmem131l |
A |
T |
3: 83,826,766 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tnfsf15 |
T |
C |
4: 63,647,887 (GRCm39) |
D251G |
probably damaging |
Het |
Ttyh3 |
T |
C |
5: 140,615,540 (GRCm39) |
E348G |
probably benign |
Het |
Unc5c |
T |
C |
3: 141,439,665 (GRCm39) |
L186P |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,219,045 (GRCm39) |
N446K |
probably damaging |
Het |
Vmn2r63 |
T |
C |
7: 42,577,959 (GRCm39) |
D193G |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,262,376 (GRCm39) |
M121K |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,651,253 (GRCm39) |
D189G |
|
Het |
Vwc2l |
C |
A |
1: 70,768,252 (GRCm39) |
C105* |
probably null |
Het |
Wdr72 |
T |
A |
9: 74,055,597 (GRCm39) |
D275E |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,467,549 (GRCm39) |
D2594V |
probably damaging |
Het |
Zfp174 |
C |
T |
16: 3,672,269 (GRCm39) |
H273Y |
probably benign |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGAGAGCAGGGGATAACT -3'
(R):5'- CCATACCAGTATGCCTAGCTATTTA -3'
Sequencing Primer
(F):5'- AACTCTGCCCTGGCTGATATAAG -3'
(R):5'- TGGAACTCACTCTATAGGCTAGGC -3'
|
Posted On |
2019-05-15 |