Incidental Mutation 'R0698:Zcwpw1'
| ID |
62906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcwpw1
|
| Ensembl Gene |
ENSMUSG00000037108 |
| Gene Name |
zinc finger, CW type with PWWP domain 1 |
| Synonyms |
LOC381678 |
| MMRRC Submission |
038882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R0698 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
137786060-137820883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137815783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 429
(E429K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035852]
[ENSMUST00000058897]
|
| AlphaFold |
Q6IR42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035852
AA Change: E429K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048730
Gene: ENSMUSG00000037108
AA Change: E429K
| 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 |
probably benign
Transcript: ENSMUST00000058897
|
| SMART Domains |
Protein: ENSMUSP00000050313
Gene: ENSMUSG00000046245
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Blast:IG
|
45 |
155 |
3e-69 |
BLAST |
|
low complexity region
|
156 |
176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141642
AA Change: E115K
|
| SMART Domains |
Protein: ENSMUSP00000120909
Gene: ENSMUSG00000037108
AA Change: E115K
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
C |
T |
16: 35,110,452 (GRCm39) |
T873M |
possibly damaging |
Het |
| Ap4e1 |
G |
A |
2: 126,905,283 (GRCm39) |
E985K |
probably benign |
Het |
| Arhgap18 |
T |
C |
10: 26,788,625 (GRCm39) |
I579T |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,426,539 (GRCm39) |
E573G |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,227,075 (GRCm39) |
V92A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
| Cpne4 |
T |
C |
9: 104,802,994 (GRCm39) |
S213P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,507,895 (GRCm39) |
Q1672L |
probably damaging |
Het |
| Grm8 |
C |
T |
6: 27,363,913 (GRCm39) |
C534Y |
probably damaging |
Het |
| Ints7 |
A |
G |
1: 191,326,576 (GRCm39) |
M183V |
probably damaging |
Het |
| Invs |
T |
G |
4: 48,396,364 (GRCm39) |
S346A |
probably benign |
Het |
| Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,911 (GRCm39) |
L441P |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,897,856 (GRCm39) |
R81* |
probably null |
Het |
| Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
T |
C |
4: 15,005,041 (GRCm39) |
N141S |
probably benign |
Het |
| Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,419 (GRCm39) |
E797D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,762,530 (GRCm39) |
Y3668H |
unknown |
Het |
| Peg10 |
T |
A |
6: 4,756,835 (GRCm39) |
|
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,145,764 (GRCm39) |
I723V |
probably benign |
Het |
| Ptprn2 |
C |
T |
12: 116,685,750 (GRCm39) |
R70* |
probably null |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab13 |
C |
T |
3: 90,132,043 (GRCm39) |
T69M |
probably damaging |
Het |
| Rpl32 |
T |
C |
6: 115,782,551 (GRCm39) |
N126S |
probably benign |
Het |
| Sis |
C |
A |
3: 72,817,831 (GRCm39) |
A1461S |
probably damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,008,670 (GRCm39) |
L258P |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,173,145 (GRCm39) |
S1706T |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,720,002 (GRCm39) |
V858I |
probably benign |
Het |
| Tut4 |
T |
A |
4: 108,412,730 (GRCm39) |
M1477K |
probably benign |
Het |
| Vps13c |
C |
A |
9: 67,797,005 (GRCm39) |
A464E |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,193,407 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R2875:Zcwpw1
|
UTSW |
5 |
137,808,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATTCCTCTGGAAGGAGCAGGGTG -3'
(R):5'- CAGACAAGACTCAGGGTTGTTGGAC -3'
Sequencing Primer
(F):5'- AGAGTGACATGTGAGTTTCTCTTTCC -3'
(R):5'- TGAGCTGATCTCAGGAAATCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation