Incidental Mutation 'R4593:Parp11'
ID |
344209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp11
|
Ensembl Gene |
ENSMUSG00000037997 |
Gene Name |
poly (ADP-ribose) polymerase family, member 11 |
Synonyms |
5330431N24Rik, HIN1L |
MMRRC Submission |
041809-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4593 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
127423803-127471224 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127451262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 104
(I104T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107814
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039680]
[ENSMUST00000112191]
[ENSMUST00000112193]
[ENSMUST00000112195]
[ENSMUST00000144115]
|
AlphaFold |
Q8CFF0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039680
AA Change: I104T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000036127 Gene: ENSMUSG00000037997 AA Change: I104T
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 benign
Transcript: ENSMUST00000112191
AA Change: I21T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000107810 Gene: ENSMUSG00000037997 AA Change: I21T
Domain | Start | End | E-Value | Type |
Pfam:PARP
|
46 |
248 |
4e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112193
AA Change: I104T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000107812 Gene: ENSMUSG00000037997 AA Change: I104T
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 benign
Transcript: ENSMUST00000112195
AA Change: I104T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000107814 Gene: ENSMUSG00000037997 AA Change: I104T
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: ENSMUST00000136945
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134018
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144115
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (45/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
possibly 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 |
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'- GGGCCTTAGATCAAGCACTGAAG -3'
(R):5'- ACTCCATCAGTGAACACGAG -3'
Sequencing Primer
(F):5'- CCTTTGCAACATGATAAAAAGGTCAC -3'
(R):5'- CAGTGAACACGAGGTTTAATACTGC -3'
|
Posted On |
2015-09-25 |