Incidental Mutation 'R0625:Paxip1'
| ID |
57410 |
| 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 |
038814-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0625 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 27970940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 470
(Q470*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002291
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002291]
|
| AlphaFold |
Q6NZQ4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002291
AA Change: Q470*
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: Q470*
| 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: ENSMUST00000196641
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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 |
|---|
| 4930550C14Rik |
T |
C |
9: 53,319,365 (GRCm39) |
S2P |
probably benign |
Het |
| Abca16 |
A |
C |
7: 120,035,116 (GRCm39) |
T301P |
probably damaging |
Het |
| Acer2 |
A |
G |
4: 86,805,399 (GRCm39) |
D121G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,248,995 (GRCm39) |
|
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,672,056 (GRCm39) |
I249V |
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,088,671 (GRCm39) |
E219G |
probably benign |
Het |
| C2cd4b |
T |
A |
9: 67,667,033 (GRCm39) |
S10T |
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,573,998 (GRCm39) |
I224N |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,568,829 (GRCm39) |
T125A |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,991,642 (GRCm39) |
S14R |
unknown |
Het |
| Cyp4f37 |
T |
G |
17: 32,853,652 (GRCm39) |
F445L |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,188,946 (GRCm39) |
I186S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,289,986 (GRCm39) |
T2510A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,671,110 (GRCm39) |
I591T |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,078,612 (GRCm39) |
I204N |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,088,969 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
G |
15: 34,471,515 (GRCm39) |
E248G |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,807 (GRCm39) |
V164A |
possibly damaging |
Het |
| Foxm1 |
A |
G |
6: 128,350,834 (GRCm39) |
S712G |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,055 (GRCm39) |
T959A |
probably benign |
Het |
| Gfra4 |
C |
T |
2: 130,882,176 (GRCm39) |
V277I |
probably null |
Het |
| Hacd4 |
T |
C |
4: 88,353,247 (GRCm39) |
I82V |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,128,225 (GRCm39) |
V159I |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,311,129 (GRCm39) |
I202V |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,944,902 (GRCm39) |
|
probably null |
Het |
| Med12l |
G |
A |
3: 59,154,858 (GRCm39) |
E1135K |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlx |
T |
C |
11: 100,978,608 (GRCm39) |
L78P |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,400,164 (GRCm39) |
C473R |
unknown |
Het |
| N4bp2l1 |
T |
A |
5: 150,500,210 (GRCm39) |
R66* |
probably null |
Het |
| Nes |
A |
G |
3: 87,884,479 (GRCm39) |
T913A |
possibly damaging |
Het |
| Oas1a |
T |
C |
5: 121,037,322 (GRCm39) |
E235G |
probably damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,396 (GRCm39) |
S275P |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,504 (GRCm39) |
S154P |
possibly damaging |
Het |
| Or8i2 |
T |
A |
2: 86,851,964 (GRCm39) |
H308L |
probably benign |
Het |
| Parn |
C |
T |
16: 13,458,158 (GRCm39) |
V286I |
probably benign |
Het |
| Phc2 |
C |
G |
4: 128,617,503 (GRCm39) |
H510D |
possibly damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,135,522 (GRCm39) |
D384V |
probably damaging |
Het |
| Plpbp |
A |
T |
8: 27,535,159 (GRCm39) |
N68I |
probably damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,937 (GRCm39) |
A123V |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,473,416 (GRCm39) |
T1737S |
possibly damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,462,476 (GRCm39) |
E396G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,352 (GRCm39) |
I228F |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,894,123 (GRCm39) |
C149S |
probably benign |
Het |
| Qtrt1 |
G |
T |
9: 21,329,584 (GRCm39) |
M217I |
probably benign |
Het |
| Sec24a |
T |
A |
11: 51,620,281 (GRCm39) |
D456V |
probably damaging |
Het |
| Shox2 |
T |
G |
3: 66,888,877 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
A |
4: 112,481,283 (GRCm39) |
S49T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,447,315 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
T |
A |
5: 36,181,916 (GRCm39) |
D1068V |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,229,966 (GRCm39) |
|
probably null |
Het |
| Ttc7b |
T |
A |
12: 100,321,305 (GRCm39) |
M24L |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,385,864 (GRCm39) |
|
probably null |
Het |
| Usp7 |
C |
T |
16: 8,522,846 (GRCm39) |
D102N |
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 |
|
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 |
|
|
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'- CAAGTGTGCTGCTTGATTCTGCATC -3'
(R):5'- GTCACTGTTACTCGCTTACGAGCC -3'
Sequencing Primer
(F):5'- tggagctgctgctgttg -3'
(R):5'- agcctcagcagcagcac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation