Incidental Mutation 'R3808:Paxip1'
ID |
275027 |
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 |
040765-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3808 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 27977027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142578
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
[ENSMUST00000196734]
|
AlphaFold |
Q6NZQ4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000002291
AA Change: I345T
|
SMART Domains |
Protein: ENSMUSP00000002291 Gene: ENSMUSG00000002221 AA Change: I345T
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 |
probably benign
Transcript: ENSMUST00000196734
|
SMART Domains |
Protein: ENSMUSP00000142578 Gene: ENSMUSG00000002221
Domain | Start | End | E-Value | Type |
Blast:BRCT
|
10 |
83 |
5e-48 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
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 |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aldh3a2 |
G |
T |
11: 61,149,623 (GRCm39) |
L248M |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,209,609 (GRCm39) |
S1458P |
probably benign |
Het |
Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
Arhgap5 |
A |
G |
12: 52,613,970 (GRCm39) |
E192G |
possibly damaging |
Het |
Atg2a |
A |
G |
19: 6,302,846 (GRCm39) |
K1019R |
possibly damaging |
Het |
Atp2b1 |
A |
G |
10: 98,839,010 (GRCm39) |
K613E |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,498,258 (GRCm39) |
C421R |
probably damaging |
Het |
Cdh17 |
A |
T |
4: 11,795,671 (GRCm39) |
Y417F |
probably damaging |
Het |
Cers1 |
A |
G |
8: 70,782,660 (GRCm39) |
D10G |
possibly damaging |
Het |
Clptm1l |
A |
C |
13: 73,760,573 (GRCm39) |
M319L |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,929,618 (GRCm39) |
V527A |
probably damaging |
Het |
Creb3l2 |
A |
G |
6: 37,332,625 (GRCm39) |
S290P |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,722,809 (GRCm39) |
V305G |
probably damaging |
Het |
Dtl |
A |
C |
1: 191,280,466 (GRCm39) |
L356R |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,732,289 (GRCm39) |
|
probably null |
Het |
Eif2b4 |
A |
G |
5: 31,348,512 (GRCm39) |
S88P |
possibly damaging |
Het |
Fat4 |
T |
G |
3: 39,036,587 (GRCm39) |
V3413G |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,801,578 (GRCm39) |
M218V |
probably benign |
Het |
Grin2b |
A |
G |
6: 135,900,269 (GRCm39) |
L204P |
probably damaging |
Het |
Kcnj12 |
A |
G |
11: 60,961,103 (GRCm39) |
N467S |
probably benign |
Het |
Klhdc3 |
T |
A |
17: 46,988,858 (GRCm39) |
N111Y |
possibly damaging |
Het |
Lin9 |
A |
G |
1: 180,486,676 (GRCm39) |
I81V |
probably null |
Het |
Lrp2 |
T |
C |
2: 69,331,892 (GRCm39) |
D1621G |
probably damaging |
Het |
Lrp4 |
T |
A |
2: 91,307,047 (GRCm39) |
D389E |
probably damaging |
Het |
Med15 |
C |
T |
16: 17,473,598 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,625,269 (GRCm39) |
N2274S |
probably benign |
Het |
Nr3c2 |
G |
A |
8: 77,635,343 (GRCm39) |
G148D |
probably damaging |
Het |
Or10s1 |
A |
T |
9: 39,985,605 (GRCm39) |
M5L |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,214,464 (GRCm39) |
V9A |
probably benign |
Het |
Or4c112 |
G |
T |
2: 88,853,770 (GRCm39) |
H192Q |
probably benign |
Het |
Pfas |
T |
C |
11: 68,880,779 (GRCm39) |
|
probably benign |
Het |
Plin3 |
C |
A |
17: 56,593,275 (GRCm39) |
A96S |
probably damaging |
Het |
Pnck |
T |
A |
X: 72,700,550 (GRCm39) |
I288F |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,386,499 (GRCm39) |
G166D |
probably damaging |
Het |
Prss43 |
A |
T |
9: 110,656,840 (GRCm39) |
R115S |
probably damaging |
Het |
Rassf2 |
T |
C |
2: 131,840,180 (GRCm39) |
|
probably null |
Het |
Rdh16f1 |
T |
A |
10: 127,624,568 (GRCm39) |
D135E |
probably benign |
Het |
Rdh16f1 |
G |
A |
10: 127,624,569 (GRCm39) |
V136M |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,189,698 (GRCm39) |
E702G |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,370,384 (GRCm39) |
K4728E |
probably damaging |
Het |
Ros1 |
T |
G |
10: 51,996,944 (GRCm39) |
T1243P |
probably benign |
Het |
Sall1 |
G |
A |
8: 89,758,101 (GRCm39) |
Q668* |
probably null |
Het |
Sbf2 |
C |
A |
7: 110,088,487 (GRCm39) |
*45L |
probably null |
Het |
Serpina3j |
A |
T |
12: 104,286,086 (GRCm39) |
I414F |
probably benign |
Het |
Sh2d3c |
T |
C |
2: 32,636,108 (GRCm39) |
Y159H |
probably damaging |
Het |
Slamf1 |
A |
G |
1: 171,625,745 (GRCm39) |
D307G |
probably null |
Het |
Slc22a13 |
T |
C |
9: 119,025,143 (GRCm39) |
T178A |
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,736,536 (GRCm39) |
L588H |
probably damaging |
Het |
Trim12a |
G |
A |
7: 103,956,201 (GRCm39) |
A113V |
probably benign |
Het |
Vil1 |
T |
C |
1: 74,466,772 (GRCm39) |
V654A |
probably benign |
Het |
Vmn1r202 |
T |
C |
13: 22,686,070 (GRCm39) |
T116A |
possibly damaging |
Het |
Zfp267 |
T |
G |
3: 36,219,792 (GRCm39) |
|
probably null |
Het |
Zfp607a |
G |
A |
7: 27,578,826 (GRCm39) |
R632H |
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 |
|
R3809:Paxip1
|
UTSW |
5 |
27,977,027 (GRCm39) |
unclassified |
probably benign |
|
R3881:Paxip1
|
UTSW |
5 |
27,953,837 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CACTCCTGGGAGAATAAAGGGC -3'
(R):5'- CAATGTCCCACCTGTTCCAG -3'
Sequencing Primer
(F):5'- CCATAAGGCCTTATGTAATGGATAGC -3'
(R):5'- CTGTTCCAGGGGACATTCTGC -3'
|
Posted On |
2015-04-02 |