Incidental Mutation 'R6482:Wapl'
| ID |
517176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wapl
|
| Ensembl Gene |
ENSMUSG00000041408 |
| Gene Name |
WAPL cohesin release factor |
| Synonyms |
A530089A20Rik, Wapal |
| MMRRC Submission |
044614-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34673928-34747983 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34692692 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 504
(S504G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048263]
[ENSMUST00000090027]
[ENSMUST00000169910]
|
| AlphaFold |
Q65Z40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048263
AA Change: S504G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040232
Gene: ENSMUSG00000041408
AA Change: S504G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
645 |
1009 |
6.5e-153 |
PFAM |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090027
AA Change: S504G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000087481
Gene: ENSMUSG00000041408
AA Change: S504G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
639 |
1003 |
2.6e-153 |
PFAM |
|
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169910
AA Change: S504G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000130547
Gene: ENSMUSG00000041408
AA Change: S504G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
436 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
513 |
N/A |
INTRINSIC |
|
Pfam:WAPL
|
647 |
1008 |
3.5e-120 |
PFAM |
|
low complexity region
|
1018 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1112 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: Studies suggest that the protein encoded by this gene is important for the release of cohesin from chromatin. This gene product is thought to be essential for development, and reduced expression of this gene in cells causes defects in chromatin structure. High levels of expression of the human ortholog of this gene are observed in cervical cancers, and expression of the human ortholog of this gene in mice results in tumor formation. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 70,011,562 (GRCm38) |
I415V |
probably benign |
Het |
| Akap8l |
A |
G |
17: 32,345,396 (GRCm38) |
F6L |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,697,055 (GRCm38) |
N603Y |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,634,813 (GRCm38) |
S116P |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 45,942,788 (GRCm38) |
Q572L |
probably benign |
Het |
| Chit1 |
T |
C |
1: 134,143,242 (GRCm38) |
S20P |
probably damaging |
Het |
| Col22a1 |
G |
A |
15: 71,890,489 (GRCm38) |
P107L |
possibly damaging |
Het |
| Dpys |
T |
C |
15: 39,841,973 (GRCm38) |
H248R |
probably damaging |
Het |
| Dsg2 |
A |
T |
18: 20,601,314 (GRCm38) |
K783I |
possibly damaging |
Het |
| Efnb2 |
A |
T |
8: 8,620,637 (GRCm38) |
V321E |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,012,658 (GRCm38) |
Y209N |
probably benign |
Het |
| Gm21936 |
A |
G |
12: 87,795,795 (GRCm38) |
Y95C |
probably damaging |
Het |
| Gm35315 |
A |
T |
5: 110,078,089 (GRCm38) |
C495S |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,480,763 (GRCm38) |
Q335R |
possibly damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,356,686 (GRCm38) |
L203P |
probably damaging |
Het |
| Itgav |
T |
C |
2: 83,794,270 (GRCm38) |
S735P |
probably damaging |
Het |
| Klrg1 |
G |
T |
6: 122,271,453 (GRCm38) |
C162* |
probably null |
Het |
| Mcc |
T |
C |
18: 44,445,864 (GRCm38) |
S651G |
possibly damaging |
Het |
| Nkx2-2 |
T |
A |
2: 147,185,976 (GRCm38) |
I15F |
probably damaging |
Het |
| Nppa |
G |
A |
4: 148,000,871 (GRCm38) |
V13I |
probably benign |
Het |
| Olfr1104 |
G |
C |
2: 87,022,525 (GRCm38) |
F6L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,501,037 (GRCm38) |
N228D |
probably benign |
Het |
| Pgpep1l |
C |
T |
7: 68,239,067 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
A |
G |
12: 76,576,004 (GRCm38) |
N673D |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,516,737 (GRCm38) |
S315P |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,654,739 (GRCm38) |
|
probably null |
Het |
| Rnf111 |
T |
C |
9: 70,429,607 (GRCm38) |
T925A |
probably damaging |
Het |
| Rnf219 |
A |
T |
14: 104,479,817 (GRCm38) |
C373* |
probably null |
Het |
| Spag9 |
T |
C |
11: 94,093,502 (GRCm38) |
F734L |
possibly damaging |
Het |
| Tarbp1 |
A |
G |
8: 126,450,695 (GRCm38) |
V746A |
probably benign |
Het |
| Tmtc1 |
A |
G |
6: 148,412,745 (GRCm38) |
F119L |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,226,900 (GRCm38) |
M576T |
probably benign |
Het |
| Usp48 |
T |
A |
4: 137,634,921 (GRCm38) |
V765E |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,432,108 (GRCm38) |
S140G |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,844 (GRCm38) |
S235P |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,433,612 (GRCm38) |
L289Q |
possibly damaging |
Het |
| Zfp142 |
G |
A |
1: 74,570,217 (GRCm38) |
|
probably null |
Het |
| Zfp385b |
ATCTTCTTCTTCT |
ATCTTCTTCTTCTTCT |
2: 77,719,648 (GRCm38) |
|
probably benign |
Het |
| Zfp948 |
A |
G |
17: 21,587,551 (GRCm38) |
H335R |
probably benign |
Het |
|
| Other mutations in Wapl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Wapl
|
APN |
14 |
34,692,636 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00539:Wapl
|
APN |
14 |
34,695,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00846:Wapl
|
APN |
14 |
34,692,744 (GRCm38) |
splice site |
probably benign |
|
|
IGL01070:Wapl
|
APN |
14 |
34,745,622 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01516:Wapl
|
APN |
14 |
34,692,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02021:Wapl
|
APN |
14 |
34,722,336 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Wapl
|
APN |
14 |
34,677,261 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02309:Wapl
|
APN |
14 |
34,744,863 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02471:Wapl
|
APN |
14 |
34,691,920 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02965:Wapl
|
APN |
14 |
34,739,224 (GRCm38) |
intron |
probably benign |
|
|
IGL03076:Wapl
|
APN |
14 |
34,692,089 (GRCm38) |
missense |
probably benign |
0.26 |
|
IGL03197:Wapl
|
APN |
14 |
34,745,631 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
Mcclintock
|
UTSW |
14 |
34,730,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
Tatum
|
UTSW |
14 |
34,729,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0045:Wapl
|
UTSW |
14 |
34,733,794 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0278:Wapl
|
UTSW |
14 |
34,692,612 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0335:Wapl
|
UTSW |
14 |
34,692,324 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1018:Wapl
|
UTSW |
14 |
34,691,906 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1295:Wapl
|
UTSW |
14 |
34,724,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1553:Wapl
|
UTSW |
14 |
34,729,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1868:Wapl
|
UTSW |
14 |
34,692,458 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1909:Wapl
|
UTSW |
14 |
34,691,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2698:Wapl
|
UTSW |
14 |
34,691,777 (GRCm38) |
missense |
probably benign |
|
|
R2990:Wapl
|
UTSW |
14 |
34,736,708 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3121:Wapl
|
UTSW |
14 |
34,729,215 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3122:Wapl
|
UTSW |
14 |
34,729,215 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3147:Wapl
|
UTSW |
14 |
34,725,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3732:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3732:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3733:Wapl
|
UTSW |
14 |
34,736,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3878:Wapl
|
UTSW |
14 |
34,692,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4034:Wapl
|
UTSW |
14 |
34,737,914 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4934:Wapl
|
UTSW |
14 |
34,692,095 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5079:Wapl
|
UTSW |
14 |
34,724,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5104:Wapl
|
UTSW |
14 |
34,692,059 (GRCm38) |
nonsense |
probably null |
|
|
R5113:Wapl
|
UTSW |
14 |
34,724,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5121:Wapl
|
UTSW |
14 |
34,677,162 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5222:Wapl
|
UTSW |
14 |
34,736,685 (GRCm38) |
nonsense |
probably null |
|
|
R5299:Wapl
|
UTSW |
14 |
34,733,808 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5387:Wapl
|
UTSW |
14 |
34,677,295 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5541:Wapl
|
UTSW |
14 |
34,730,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5618:Wapl
|
UTSW |
14 |
34,691,906 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5802:Wapl
|
UTSW |
14 |
34,692,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6029:Wapl
|
UTSW |
14 |
34,739,247 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6292:Wapl
|
UTSW |
14 |
34,729,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6487:Wapl
|
UTSW |
14 |
34,692,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6925:Wapl
|
UTSW |
14 |
34,677,363 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6937:Wapl
|
UTSW |
14 |
34,722,354 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7080:Wapl
|
UTSW |
14 |
34,692,356 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7203:Wapl
|
UTSW |
14 |
34,736,691 (GRCm38) |
missense |
probably benign |
|
|
R7944:Wapl
|
UTSW |
14 |
34,677,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7945:Wapl
|
UTSW |
14 |
34,677,148 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7969:Wapl
|
UTSW |
14 |
34,730,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8038:Wapl
|
UTSW |
14 |
34,691,682 (GRCm38) |
missense |
probably benign |
|
|
R8053:Wapl
|
UTSW |
14 |
34,692,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8688:Wapl
|
UTSW |
14 |
34,692,592 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8864:Wapl
|
UTSW |
14 |
34,692,202 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8988:Wapl
|
UTSW |
14 |
34,729,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9072:Wapl
|
UTSW |
14 |
34,677,460 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R9197:Wapl
|
UTSW |
14 |
34,722,287 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9259:Wapl
|
UTSW |
14 |
34,741,095 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9545:Wapl
|
UTSW |
14 |
34,677,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9613:Wapl
|
UTSW |
14 |
34,731,563 (GRCm38) |
missense |
probably benign |
0.29 |
|
R9624:Wapl
|
UTSW |
14 |
34,692,106 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
Z1177:Wapl
|
UTSW |
14 |
34,745,690 (GRCm38) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGAAGATCATGATGAGACAGG -3'
(R):5'- TGGAACCCTGAACTCACATGC -3'
Sequencing Primer
(F):5'- TCATGATGAGACAGGAGGTGATG -3'
(R):5'- GGAACCCTGAACTCACATGCATATAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation