Incidental Mutation 'R2475:Wrnip1'
| ID |
253354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wrnip1
|
| Ensembl Gene |
ENSMUSG00000021400 |
| Gene Name |
Werner helicase interacting protein 1 |
| Synonyms |
4833444L21Rik, WHIP |
| MMRRC Submission |
040406-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
32986021-33006592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32990941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 400
(R400H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021832]
[ENSMUST00000057911]
|
| AlphaFold |
Q91XU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021832
AA Change: R400H
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021832
Gene: ENSMUSG00000021400
AA Change: R400H
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_Rad18
|
17 |
40 |
4.76e-10 |
SMART |
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
183 |
N/A |
INTRINSIC |
|
AAA
|
255 |
375 |
9.86e-16 |
SMART |
|
Pfam:AAA_assoc_2
|
413 |
506 |
6.4e-26 |
PFAM |
|
Pfam:MgsA_C
|
507 |
659 |
3.9e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057911
|
| SMART Domains |
Protein: ENSMUSP00000050235
Gene: ENSMUSG00000042874
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221066
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229351
AA Change: R3H
|
| Meta Mutation Damage Score |
0.0921 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,442 (GRCm39) |
M458K |
probably benign |
Het |
| Atic |
C |
T |
1: 71,598,428 (GRCm39) |
R64C |
probably damaging |
Het |
| Atp7b |
C |
T |
8: 22,484,792 (GRCm39) |
V1307M |
possibly damaging |
Het |
| Bbx |
C |
A |
16: 50,040,882 (GRCm39) |
R707L |
probably damaging |
Het |
| Ccdc28b |
A |
T |
4: 129,514,445 (GRCm39) |
|
probably null |
Het |
| Gm21136 |
T |
A |
7: 38,567,258 (GRCm39) |
T57S |
probably damaging |
Het |
| Gm5862 |
G |
A |
5: 26,224,490 (GRCm39) |
L160F |
probably damaging |
Het |
| Gpsm3 |
A |
G |
17: 34,809,534 (GRCm39) |
T47A |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,814,401 (GRCm39) |
Y311H |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,768,607 (GRCm39) |
N705K |
probably benign |
Het |
| Lingo1 |
T |
A |
9: 56,526,910 (GRCm39) |
I560F |
probably benign |
Het |
| Man2b2 |
A |
G |
5: 36,965,219 (GRCm39) |
V958A |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,364,490 (GRCm39) |
C1305S |
probably benign |
Het |
| Or14j9 |
A |
G |
17: 37,874,602 (GRCm39) |
V200A |
probably benign |
Het |
| Phf19 |
C |
T |
2: 34,785,807 (GRCm39) |
R554Q |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,395 (GRCm39) |
Y168N |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,282,171 (GRCm39) |
D689G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,703,094 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Wrnip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Wrnip1
|
APN |
13 |
33,000,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Wrnip1
|
APN |
13 |
32,990,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02947:Wrnip1
|
APN |
13 |
33,006,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Wrnip1
|
UTSW |
13 |
33,004,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Wrnip1
|
UTSW |
13 |
32,990,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0212:Wrnip1
|
UTSW |
13 |
33,005,889 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0545:Wrnip1
|
UTSW |
13 |
32,990,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0638:Wrnip1
|
UTSW |
13 |
33,005,073 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1650:Wrnip1
|
UTSW |
13 |
32,989,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1894:Wrnip1
|
UTSW |
13 |
32,989,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2176:Wrnip1
|
UTSW |
13 |
33,004,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2371:Wrnip1
|
UTSW |
13 |
32,986,410 (GRCm39) |
missense |
probably benign |
|
|
R3122:Wrnip1
|
UTSW |
13 |
32,986,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4247:Wrnip1
|
UTSW |
13 |
32,990,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Wrnip1
|
UTSW |
13 |
32,986,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Wrnip1
|
UTSW |
13 |
33,000,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Wrnip1
|
UTSW |
13 |
33,000,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Wrnip1
|
UTSW |
13 |
32,990,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Wrnip1
|
UTSW |
13 |
32,990,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Wrnip1
|
UTSW |
13 |
32,986,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7137:Wrnip1
|
UTSW |
13 |
32,986,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7142:Wrnip1
|
UTSW |
13 |
32,986,616 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7378:Wrnip1
|
UTSW |
13 |
33,000,264 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7468:Wrnip1
|
UTSW |
13 |
33,000,360 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7470:Wrnip1
|
UTSW |
13 |
33,000,310 (GRCm39) |
nonsense |
probably null |
|
|
R8049:Wrnip1
|
UTSW |
13 |
33,005,960 (GRCm39) |
missense |
probably benign |
|
|
R8260:Wrnip1
|
UTSW |
13 |
32,989,339 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9000:Wrnip1
|
UTSW |
13 |
32,986,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0019:Wrnip1
|
UTSW |
13 |
32,990,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Wrnip1
|
UTSW |
13 |
32,986,707 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGGCTCTTGAGTGGAATC -3'
(R):5'- TCCTTACAGGCAGACCAATG -3'
Sequencing Primer
(F):5'- TCCTCCCATGGTTAGGACAC -3'
(R):5'- AGACCAATGGCTCCACTTGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation