Incidental Mutation 'R6608:Parp11'
| ID |
526419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp11
|
| Ensembl Gene |
ENSMUSG00000037997 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 11 |
| Synonyms |
5330431N24Rik, HIN1L |
| MMRRC Submission |
044731-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6608 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
127423803-127471224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127454811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 110
(I110V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039680]
[ENSMUST00000112191]
[ENSMUST00000112193]
[ENSMUST00000112195]
[ENSMUST00000144115]
|
| AlphaFold |
Q8CFF0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039680
AA Change: I110V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036127
Gene: ENSMUSG00000037997
AA Change: I110V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WWE
|
25 |
99 |
1.4e-18 |
PFAM |
|
Pfam:PARP
|
129 |
331 |
4.1e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112191
AA Change: I27V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107810
Gene: ENSMUSG00000037997
AA Change: I27V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PARP
|
46 |
248 |
4e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112193
AA Change: I110V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107812
Gene: ENSMUSG00000037997
AA Change: I110V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WWE
|
22 |
99 |
4.5e-12 |
PFAM |
|
Pfam:PARP
|
129 |
176 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112195
AA Change: I110V
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107814
Gene: ENSMUSG00000037997
AA Change: I110V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WWE
|
22 |
99 |
4.5e-12 |
PFAM |
|
Pfam:PARP
|
129 |
176 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201717
|
| Meta Mutation Damage Score |
0.0796 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired male fertility and teratozoospermia associated with sperm head malformations and nuclear envelope defects during the nuclear reshaping process of spermatid elongation and condensation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
| Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
| Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
| AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,969,288 (GRCm39) |
Y975C |
probably damaging |
Het |
| Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
| Cdan1 |
A |
C |
2: 120,557,161 (GRCm39) |
I555R |
possibly damaging |
Het |
| Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
| Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
| Coq6 |
G |
A |
12: 84,418,922 (GRCm39) |
V309I |
probably benign |
Het |
| Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
| Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
| Man1b1 |
T |
A |
2: 25,233,263 (GRCm39) |
V212E |
probably damaging |
Het |
| Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
| Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
| Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
| Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
| Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
| Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
| Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
| Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
| Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
| Wsb1 |
C |
T |
11: 79,131,188 (GRCm39) |
E403K |
probably benign |
Het |
| Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
| Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
probably damaging |
Het |
|
| Other mutations in Parp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Parp11
|
APN |
6 |
127,448,526 (GRCm39) |
nonsense |
probably null |
|
|
IGL01548:Parp11
|
APN |
6 |
127,468,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01638:Parp11
|
APN |
6 |
127,468,492 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01688:Parp11
|
APN |
6 |
127,448,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03201:Parp11
|
APN |
6 |
127,466,981 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03297:Parp11
|
APN |
6 |
127,467,045 (GRCm39) |
splice site |
probably benign |
|
|
H8786:Parp11
|
UTSW |
6 |
127,448,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1514:Parp11
|
UTSW |
6 |
127,451,256 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1817:Parp11
|
UTSW |
6 |
127,467,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Parp11
|
UTSW |
6 |
127,447,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Parp11
|
UTSW |
6 |
127,447,663 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2011:Parp11
|
UTSW |
6 |
127,454,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4483:Parp11
|
UTSW |
6 |
127,448,568 (GRCm39) |
missense |
probably benign |
|
|
R4507:Parp11
|
UTSW |
6 |
127,451,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4593:Parp11
|
UTSW |
6 |
127,451,262 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5024:Parp11
|
UTSW |
6 |
127,448,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Parp11
|
UTSW |
6 |
127,447,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7606:Parp11
|
UTSW |
6 |
127,447,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8772:Parp11
|
UTSW |
6 |
127,468,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Parp11
|
UTSW |
6 |
127,447,726 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9042:Parp11
|
UTSW |
6 |
127,448,615 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATCCCTTTTCTTTGGCTGAAAC -3'
(R):5'- ATTATACTCGTGCGTCTGGTTC -3'
Sequencing Primer
(F):5'- GCTGTGTAGATTTGTATATTCCCATC -3'
(R):5'- CGTCTGGTTCTGCAGGGAAAC -3'
|
| Posted On |
2018-06-25 |
Incidental Mutation