Incidental Mutation 'R4507:Parp11'
| ID |
332050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp11
|
| Ensembl Gene |
ENSMUSG00000037997 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 11 |
| Synonyms |
5330431N24Rik, HIN1L |
| MMRRC Submission |
041756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
127423803-127471224 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127451246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 99
(R99G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039680]
[ENSMUST00000112191]
[ENSMUST00000112193]
[ENSMUST00000112195]
[ENSMUST00000144115]
|
| AlphaFold |
Q8CFF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039680
AA Change: R99G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036127
Gene: ENSMUSG00000037997
AA Change: R99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WWE
|
25 |
99 |
1.4e-18 |
PFAM |
|
Pfam:PARP
|
129 |
331 |
4.1e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112191
AA Change: R16G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107810
Gene: ENSMUSG00000037997
AA Change: R16G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PARP
|
46 |
248 |
4e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112193
AA Change: R99G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107812
Gene: ENSMUSG00000037997
AA Change: R99G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WWE
|
22 |
99 |
4.5e-12 |
PFAM |
|
Pfam:PARP
|
129 |
176 |
2.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112195
AA Change: R99G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107814
Gene: ENSMUSG00000037997
AA Change: R99G
| 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: ENSMUST00000125364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128470
|
| 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 |
0.4250 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,601 (GRCm39) |
Y83C |
probably damaging |
Het |
| Abca8a |
A |
T |
11: 109,953,851 (GRCm39) |
I863N |
probably benign |
Het |
| Abr |
A |
G |
11: 76,342,683 (GRCm39) |
I608T |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,820,565 (GRCm39) |
Y485C |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,374,681 (GRCm39) |
K38E |
possibly damaging |
Het |
| Bhlhe22 |
T |
C |
3: 18,109,123 (GRCm39) |
S58P |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,027,633 (GRCm39) |
I418L |
probably damaging |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
T |
A |
12: 101,447,087 (GRCm39) |
|
probably null |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| Clic1 |
A |
G |
17: 35,271,761 (GRCm39) |
T52A |
probably benign |
Het |
| Dnah7c |
C |
T |
1: 46,805,771 (GRCm39) |
R3407C |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,759,177 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
G |
4: 124,809,480 (GRCm39) |
|
probably benign |
Het |
| Fbh1 |
A |
G |
2: 11,753,828 (GRCm39) |
V838A |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,406,216 (GRCm39) |
T286A |
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,560,620 (GRCm39) |
I317N |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,837,276 (GRCm39) |
L760I |
probably damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,387 (GRCm39) |
Y32F |
probably damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Lhx5 |
C |
A |
5: 120,578,073 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mdh1 |
C |
T |
11: 21,508,470 (GRCm39) |
V291M |
probably benign |
Het |
| Myh14 |
T |
C |
7: 44,279,415 (GRCm39) |
T963A |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,774,065 (GRCm39) |
F1305L |
probably benign |
Het |
| Or4c10 |
C |
T |
2: 89,760,695 (GRCm39) |
P181S |
possibly damaging |
Het |
| Or8b9 |
T |
C |
9: 37,766,201 (GRCm39) |
F29S |
possibly damaging |
Het |
| Phactr1 |
C |
A |
13: 43,250,270 (GRCm39) |
T522N |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,014 (GRCm39) |
T1423A |
probably damaging |
Het |
| Ralgapa2 |
T |
C |
2: 146,195,168 (GRCm39) |
I1253V |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,106,925 (GRCm39) |
M329T |
probably benign |
Het |
| Srrm4 |
T |
C |
5: 116,584,612 (GRCm39) |
Y486C |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,471 (GRCm39) |
I6V |
possibly damaging |
Het |
| Tec |
T |
C |
5: 72,917,701 (GRCm39) |
D506G |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,833 (GRCm39) |
I316V |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,013,786 (GRCm39) |
F952I |
probably damaging |
Het |
| Vat1l |
T |
C |
8: 114,932,556 (GRCm39) |
L34P |
probably benign |
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 |
|
|
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 |
|
R6608:Parp11
|
UTSW |
6 |
127,454,811 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- GCCTTAGATCAAGCACTGAAGG -3'
(R):5'- CTCCATCAGTGAACACGAGG -3'
Sequencing Primer
(F):5'- CCTTTGCAACATGATAAAAAGGTCAC -3'
(R):5'- CAGTGAACACGAGGTTTAATACTGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation