Incidental Mutation 'R4298:Zwilch'
| ID |
368398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zwilch
|
| Ensembl Gene |
ENSMUSG00000032400 |
| Gene Name |
zwilch kinetochore protein |
| Synonyms |
2310031L18Rik |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64044426-64080210 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 64062444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122091]
[ENSMUST00000176299]
[ENSMUST00000176794]
[ENSMUST00000177045]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000122091
|
| SMART Domains |
Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
589 |
6e-206 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138075
|
| 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 null
Transcript: ENSMUST00000176299
|
| SMART Domains |
Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176794
|
| SMART Domains |
Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
| 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 |
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCACAGGAAAGGGAGTTC -3'
(R):5'- CTGGTAGTTTGCTAAAGTCCCAG -3'
Sequencing Primer
(F):5'- AACTGAGAGTAACTGCTTATCCCTC -3'
(R):5'- GTTTGCTAAAGTCCCAGTATATTCC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation