Incidental Mutation 'R5397:Paxip1'
| ID |
478333 |
| 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 |
042968-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5397 (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 T
at 27977002 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: H353Q
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: H353Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,626 (GRCm39) |
I169T |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
| Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
| Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
| Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,279 (GRCm39) |
W131R |
probably damaging |
Het |
| Dhx58 |
A |
G |
11: 100,594,746 (GRCm39) |
V50A |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
| Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
| Map7 |
G |
A |
10: 20,149,067 (GRCm39) |
R514Q |
unknown |
Het |
| Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
| Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
| Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
| Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
| Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
| Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
| Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
probably damaging |
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 |
|
|
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 |
|
|
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'- CACTAAGTTCACTCCTGGGAG -3'
(R):5'- CTGTTCCAGGGGACATTCTG -3'
Sequencing Primer
(F):5'- CCATAAGGCCTTATGTAATGGATAGC -3'
(R):5'- GGACATTCTGCCTCCTGACATG -3'
|
| Posted On |
2017-06-23 |
Incidental Mutation