Incidental Mutation 'R3881:Paxip1'
ID |
308754 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Paxip1
|
Ensembl Gene |
ENSMUSG00000002221 |
Gene Name |
PAX interacting (with transcription-activation domain) protein 1 |
Synonyms |
D5Ertd149e, PTIP |
MMRRC Submission |
040795-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3881 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 27953837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 953
(R953Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002291
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
|
AlphaFold |
Q6NZQ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002291
AA Change: R953Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002291 Gene: ENSMUSG00000002221 AA Change: R953Q
Domain | Start | End | E-Value | Type |
BRCT
|
10 |
83 |
6.72e1 |
SMART |
BRCT
|
96 |
173 |
8.83e-15 |
SMART |
low complexity region
|
189 |
208 |
N/A |
INTRINSIC |
low complexity region
|
214 |
223 |
N/A |
INTRINSIC |
coiled coil region
|
489 |
547 |
N/A |
INTRINSIC |
BRCT
|
590 |
671 |
5.74e-14 |
SMART |
BRCT
|
690 |
766 |
1.67e-15 |
SMART |
BRCT
|
845 |
924 |
4.03e-9 |
SMART |
BRCT
|
957 |
1046 |
3.54e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197625
|
Meta Mutation Damage Score |
0.1145 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013] PHENOTYPE: Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010003K11Rik |
T |
G |
19: 4,548,417 (GRCm39) |
K44T |
possibly damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,740,823 (GRCm39) |
E131G |
probably benign |
Het |
Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
Cep41 |
A |
G |
6: 30,658,397 (GRCm39) |
S201P |
probably damaging |
Het |
Cep95 |
A |
G |
11: 106,697,118 (GRCm39) |
I257V |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cyfip2 |
A |
G |
11: 46,099,162 (GRCm39) |
L716P |
probably damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,502,818 (GRCm39) |
Q136L |
probably benign |
Het |
Def6 |
T |
C |
17: 28,439,189 (GRCm39) |
C267R |
probably damaging |
Het |
Dgat2 |
G |
A |
7: 98,818,950 (GRCm39) |
Q69* |
probably null |
Het |
Dlgap1 |
T |
A |
17: 71,093,810 (GRCm39) |
S710R |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,850,095 (GRCm39) |
I1539T |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,342,173 (GRCm39) |
I2932F |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,783,088 (GRCm39) |
S76P |
probably damaging |
Het |
Esr2 |
T |
C |
12: 76,214,394 (GRCm39) |
D19G |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,595,112 (GRCm39) |
|
probably null |
Het |
Fbxw14 |
A |
T |
9: 109,100,262 (GRCm39) |
V464D |
possibly damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,839,463 (GRCm39) |
C425* |
probably null |
Het |
Gm21961 |
A |
G |
15: 64,886,716 (GRCm39) |
|
probably null |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
Ints4 |
A |
G |
7: 97,165,464 (GRCm39) |
T517A |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,332,814 (GRCm39) |
N1860S |
probably benign |
Het |
Itsn2 |
G |
A |
12: 4,684,546 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
Letm2 |
C |
A |
8: 26,083,884 (GRCm39) |
E116* |
probably null |
Het |
Ly6c1 |
T |
C |
15: 74,917,436 (GRCm39) |
T71A |
probably benign |
Het |
Mcm3ap |
G |
A |
10: 76,342,280 (GRCm39) |
S1591N |
probably benign |
Het |
Mier2 |
C |
T |
10: 79,384,584 (GRCm39) |
|
probably null |
Het |
Mocs2 |
T |
A |
13: 114,955,882 (GRCm39) |
L10* |
probably null |
Het |
Myo6 |
A |
G |
9: 80,171,538 (GRCm39) |
D513G |
probably damaging |
Het |
Myoz2 |
T |
C |
3: 122,807,369 (GRCm39) |
Y147C |
probably damaging |
Het |
Nin |
C |
T |
12: 70,089,315 (GRCm39) |
V1367M |
probably benign |
Het |
Nr2f6 |
C |
T |
8: 71,828,675 (GRCm39) |
A200T |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,947,775 (GRCm39) |
C4418Y |
probably damaging |
Het |
Or10ak9 |
A |
G |
4: 118,726,550 (GRCm39) |
M191V |
probably benign |
Het |
Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
Or5g26 |
T |
A |
2: 85,494,769 (GRCm39) |
H3L |
probably benign |
Het |
Pcdha1 |
A |
T |
18: 37,064,454 (GRCm39) |
I373F |
possibly damaging |
Het |
Pcdha7 |
G |
A |
18: 37,108,432 (GRCm39) |
E486K |
probably benign |
Het |
Recql5 |
G |
A |
11: 115,784,780 (GRCm39) |
P849L |
probably benign |
Het |
Recql5 |
G |
T |
11: 115,784,781 (GRCm39) |
P849T |
probably benign |
Het |
Rnf180 |
A |
T |
13: 105,386,915 (GRCm39) |
M131K |
possibly damaging |
Het |
Rplp1 |
A |
G |
9: 61,821,704 (GRCm39) |
S3P |
probably benign |
Het |
Rpp38 |
T |
A |
2: 3,330,283 (GRCm39) |
R206S |
probably benign |
Het |
Sdha |
G |
T |
13: 74,487,311 (GRCm39) |
P159Q |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,959,121 (GRCm39) |
V199A |
probably benign |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Timm50 |
C |
A |
7: 28,010,432 (GRCm39) |
A41S |
probably benign |
Het |
Tmbim1 |
A |
G |
1: 74,329,157 (GRCm39) |
|
probably benign |
Het |
Tmprss11a |
C |
T |
5: 86,593,664 (GRCm39) |
V29M |
possibly damaging |
Het |
Ttc28 |
A |
T |
5: 111,331,106 (GRCm39) |
H411L |
probably damaging |
Het |
Ube4b |
A |
T |
4: 149,449,861 (GRCm39) |
|
probably null |
Het |
Zdhhc22 |
T |
A |
12: 87,030,400 (GRCm39) |
M183L |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,362,630 (GRCm39) |
S830P |
probably benign |
Het |
|
Other mutations in Paxip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Paxip1
|
APN |
5 |
27,977,550 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01705:Paxip1
|
APN |
5 |
27,953,857 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Paxip1
|
APN |
5 |
27,956,036 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02143:Paxip1
|
APN |
5 |
27,980,596 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02863:Paxip1
|
APN |
5 |
27,964,393 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02903:Paxip1
|
APN |
5 |
27,953,870 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03008:Paxip1
|
APN |
5 |
27,957,764 (GRCm39) |
missense |
probably benign |
0.01 |
BB003:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
BB013:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
R0128:Paxip1
|
UTSW |
5 |
27,949,183 (GRCm39) |
splice site |
probably benign |
|
R0130:Paxip1
|
UTSW |
5 |
27,949,183 (GRCm39) |
splice site |
probably benign |
|
R0331:Paxip1
|
UTSW |
5 |
27,970,230 (GRCm39) |
missense |
probably damaging |
0.96 |
R0357:Paxip1
|
UTSW |
5 |
27,963,621 (GRCm39) |
splice site |
probably benign |
|
R0370:Paxip1
|
UTSW |
5 |
27,965,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R0625:Paxip1
|
UTSW |
5 |
27,970,940 (GRCm39) |
nonsense |
probably null |
|
R1969:Paxip1
|
UTSW |
5 |
27,949,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R2214:Paxip1
|
UTSW |
5 |
27,947,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R3424:Paxip1
|
UTSW |
5 |
27,980,671 (GRCm39) |
utr 3 prime |
probably benign |
|
R3808:Paxip1
|
UTSW |
5 |
27,977,027 (GRCm39) |
unclassified |
probably benign |
|
R3809:Paxip1
|
UTSW |
5 |
27,977,027 (GRCm39) |
unclassified |
probably benign |
|
R3882:Paxip1
|
UTSW |
5 |
27,953,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R4685:Paxip1
|
UTSW |
5 |
27,966,675 (GRCm39) |
splice site |
probably null |
|
R4692:Paxip1
|
UTSW |
5 |
27,977,095 (GRCm39) |
unclassified |
probably benign |
|
R4776:Paxip1
|
UTSW |
5 |
27,970,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R5093:Paxip1
|
UTSW |
5 |
27,971,282 (GRCm39) |
missense |
unknown |
|
R5388:Paxip1
|
UTSW |
5 |
27,986,453 (GRCm39) |
utr 3 prime |
probably benign |
|
R5397:Paxip1
|
UTSW |
5 |
27,977,002 (GRCm39) |
unclassified |
probably benign |
|
R5553:Paxip1
|
UTSW |
5 |
27,980,637 (GRCm39) |
utr 3 prime |
probably benign |
|
R6151:Paxip1
|
UTSW |
5 |
27,966,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R6216:Paxip1
|
UTSW |
5 |
27,971,171 (GRCm39) |
missense |
unknown |
|
R6276:Paxip1
|
UTSW |
5 |
27,966,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R6290:Paxip1
|
UTSW |
5 |
27,970,576 (GRCm39) |
splice site |
probably null |
|
R6584:Paxip1
|
UTSW |
5 |
27,963,450 (GRCm39) |
missense |
probably damaging |
0.98 |
R6688:Paxip1
|
UTSW |
5 |
27,949,135 (GRCm39) |
missense |
probably benign |
0.18 |
R6908:Paxip1
|
UTSW |
5 |
27,996,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6981:Paxip1
|
UTSW |
5 |
27,970,766 (GRCm39) |
nonsense |
probably null |
|
R7252:Paxip1
|
UTSW |
5 |
27,965,084 (GRCm39) |
missense |
probably damaging |
0.96 |
R7385:Paxip1
|
UTSW |
5 |
27,986,418 (GRCm39) |
critical splice donor site |
probably null |
|
R7585:Paxip1
|
UTSW |
5 |
27,977,002 (GRCm39) |
missense |
unknown |
|
R7665:Paxip1
|
UTSW |
5 |
27,970,736 (GRCm39) |
missense |
unknown |
|
R7926:Paxip1
|
UTSW |
5 |
27,996,207 (GRCm39) |
missense |
unknown |
|
R8169:Paxip1
|
UTSW |
5 |
27,977,093 (GRCm39) |
missense |
unknown |
|
R8335:Paxip1
|
UTSW |
5 |
27,971,122 (GRCm39) |
missense |
unknown |
|
R8732:Paxip1
|
UTSW |
5 |
27,949,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:Paxip1
|
UTSW |
5 |
27,977,078 (GRCm39) |
missense |
unknown |
|
X0066:Paxip1
|
UTSW |
5 |
27,971,016 (GRCm39) |
missense |
unknown |
|
Z1176:Paxip1
|
UTSW |
5 |
27,988,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATCAGAGTAAAGAATGTTCCTG -3'
(R):5'- CCCAAGTCACAGGATGAGTGTG -3'
Sequencing Primer
(F):5'- CAGTCTGATCTAGCTACACAGTGAG -3'
(R):5'- CACAGGATGAGTGTGGCTGTG -3'
|
Posted On |
2015-04-17 |