Incidental Mutation 'R2875:Zcwpw1'
| ID |
260505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcwpw1
|
| Ensembl Gene |
ENSMUSG00000037108 |
| Gene Name |
zinc finger, CW type with PWWP domain 1 |
| Synonyms |
LOC381678 |
| MMRRC Submission |
040463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R2875 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137786060-137820883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137808304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035852]
|
| AlphaFold |
Q6IR42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035852
AA Change: S251P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048730
Gene: ENSMUSG00000037108
AA Change: S251P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
246 |
293 |
7.3e-18 |
PFAM |
|
Pfam:PWWP
|
306 |
401 |
6.9e-22 |
PFAM |
|
coiled coil region
|
440 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141642
|
| SMART Domains |
Protein: ENSMUSP00000120909
Gene: ENSMUSG00000037108
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWWP
|
21 |
109 |
8.2e-19 |
PFAM |
|
coiled coil region
|
126 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (1/1) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
| Eno1b |
A |
G |
18: 48,180,851 (GRCm39) |
K343R |
possibly damaging |
Het |
| Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
| H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
| Irf8 |
C |
A |
8: 121,481,202 (GRCm39) |
P262Q |
probably damaging |
Het |
| Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
| Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
| Mgrn1 |
C |
T |
16: 4,725,280 (GRCm39) |
T47I |
possibly damaging |
Het |
| Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,900,573 (GRCm39) |
T223N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
| St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
| Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
probably damaging |
Het |
|
| Other mutations in Zcwpw1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Zcwpw1
|
APN |
5 |
137,795,061 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02316:Zcwpw1
|
APN |
5 |
137,808,272 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02336:Zcwpw1
|
APN |
5 |
137,808,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0103:Zcwpw1
|
UTSW |
5 |
137,808,375 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Zcwpw1
|
UTSW |
5 |
137,808,375 (GRCm39) |
nonsense |
probably null |
|
|
R0295:Zcwpw1
|
UTSW |
5 |
137,815,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Zcwpw1
|
UTSW |
5 |
137,794,945 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0685:Zcwpw1
|
UTSW |
5 |
137,797,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0698:Zcwpw1
|
UTSW |
5 |
137,815,783 (GRCm39) |
missense |
probably benign |
|
|
R0727:Zcwpw1
|
UTSW |
5 |
137,809,069 (GRCm39) |
unclassified |
probably benign |
|
|
R1677:Zcwpw1
|
UTSW |
5 |
137,795,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1780:Zcwpw1
|
UTSW |
5 |
137,794,914 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1938:Zcwpw1
|
UTSW |
5 |
137,809,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4177:Zcwpw1
|
UTSW |
5 |
137,798,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5073:Zcwpw1
|
UTSW |
5 |
137,793,781 (GRCm39) |
start codon destroyed |
probably null |
0.81 |
|
R5913:Zcwpw1
|
UTSW |
5 |
137,798,269 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6224:Zcwpw1
|
UTSW |
5 |
137,810,298 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6542:Zcwpw1
|
UTSW |
5 |
137,810,282 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7204:Zcwpw1
|
UTSW |
5 |
137,810,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7542:Zcwpw1
|
UTSW |
5 |
137,817,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7600:Zcwpw1
|
UTSW |
5 |
137,798,396 (GRCm39) |
nonsense |
probably null |
|
|
R7911:Zcwpw1
|
UTSW |
5 |
137,795,032 (GRCm39) |
missense |
probably null |
1.00 |
|
R7972:Zcwpw1
|
UTSW |
5 |
137,799,323 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7988:Zcwpw1
|
UTSW |
5 |
137,815,753 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8174:Zcwpw1
|
UTSW |
5 |
137,817,839 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8713:Zcwpw1
|
UTSW |
5 |
137,797,794 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8851:Zcwpw1
|
UTSW |
5 |
137,820,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Zcwpw1
|
UTSW |
5 |
137,798,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9131:Zcwpw1
|
UTSW |
5 |
137,809,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Zcwpw1
|
UTSW |
5 |
137,799,274 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0021:Zcwpw1
|
UTSW |
5 |
137,809,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCAGTTCTGTCACCAAGTTAG -3'
(R):5'- CTTAGCTGAAAGGAGACATGTTGG -3'
Sequencing Primer
(F):5'- AGGTTGGCCTTCAGTAAAATGC -3'
(R):5'- CTGAAAGGAGACATGTTGGGAAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation