Incidental Mutation 'R4692:Paxip1'
| ID |
354965 |
| 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 |
041943-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
27945078-27996689 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 27977095 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: I322M
|
| SMART Domains |
Protein: ENSMUSP00000002291
Gene: ENSMUSG00000002221
AA Change: I322M
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| 9230104M06Rik |
A |
T |
12: 112,963,692 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,697,088 (GRCm39) |
D53G |
probably damaging |
Het |
| Arl2 |
T |
C |
19: 6,187,776 (GRCm39) |
T54A |
probably damaging |
Het |
| Baz2a |
G |
A |
10: 127,960,762 (GRCm39) |
G1521S |
probably damaging |
Het |
| Begain |
A |
G |
12: 108,999,818 (GRCm39) |
S523P |
probably damaging |
Het |
| Car10 |
T |
C |
11: 93,075,984 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,922,140 (GRCm39) |
I66V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,286,864 (GRCm39) |
V895E |
unknown |
Het |
| Coro1b |
T |
C |
19: 4,199,418 (GRCm39) |
Y26H |
probably damaging |
Het |
| Crebbp |
T |
C |
16: 3,932,727 (GRCm39) |
E1017G |
possibly damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,428,709 (GRCm39) |
S232P |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,126,728 (GRCm39) |
I473F |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 77,004,507 (GRCm39) |
I937N |
probably damaging |
Het |
| Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Igkv2-137 |
T |
C |
6: 67,532,971 (GRCm39) |
S45P |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,466,841 (GRCm39) |
|
probably null |
Het |
| Kif13b |
C |
A |
14: 65,041,024 (GRCm39) |
T1704K |
probably benign |
Het |
| Mapk7 |
A |
G |
11: 61,380,068 (GRCm39) |
S697P |
possibly damaging |
Het |
| Mrgpra1 |
T |
A |
7: 46,985,446 (GRCm39) |
I78F |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,854 (GRCm39) |
V97A |
possibly damaging |
Het |
| Oas3 |
T |
C |
5: 120,907,420 (GRCm39) |
T406A |
probably benign |
Het |
| Or4f61 |
A |
G |
2: 111,923,026 (GRCm39) |
S7P |
probably damaging |
Het |
| Or8c17 |
C |
T |
9: 38,179,826 (GRCm39) |
Q6* |
probably null |
Het |
| Pfn4 |
A |
T |
12: 4,824,486 (GRCm39) |
Y71F |
probably damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,849,047 (GRCm39) |
D1084E |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,757,090 (GRCm39) |
S350R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,922,161 (GRCm39) |
V4A |
possibly damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,806,888 (GRCm39) |
|
probably null |
Het |
| Smgc |
T |
C |
15: 91,738,764 (GRCm39) |
V474A |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,136,917 (GRCm39) |
D126G |
possibly damaging |
Het |
| Sox9 |
C |
A |
11: 112,673,803 (GRCm39) |
H131Q |
probably benign |
Het |
| Spag6 |
T |
C |
2: 18,704,054 (GRCm39) |
I34T |
probably benign |
Het |
| Speer2 |
T |
A |
16: 69,654,860 (GRCm39) |
T202S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,459,621 (GRCm39) |
C3327S |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,299 (GRCm39) |
A28E |
unknown |
Het |
| Vstm5 |
A |
T |
9: 15,168,718 (GRCm39) |
D94V |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,559 (GRCm39) |
K322E |
probably damaging |
Het |
| Zfp932 |
G |
A |
5: 110,157,052 (GRCm39) |
G250D |
probably damaging |
Het |
| Zscan26 |
A |
G |
13: 21,629,427 (GRCm39) |
C359R |
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 |
|
|
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'- ATGTGACTTCTGCCTGTTTAACATG -3'
(R):5'- TGACTCATCCCCTGAAAAGCAG -3'
Sequencing Primer
(F):5'- TAAAGAAATTCACACAAAAATGGGAC -3'
(R):5'- AGCTTGAACTGGGCCCCTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation