Incidental Mutation 'R0306:Paxbp1'
| ID |
35818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paxbp1
|
| Ensembl Gene |
ENSMUSG00000022974 |
| Gene Name |
PAX3 and PAX7 binding protein 1 |
| Synonyms |
1810007M14Rik, Pax3/7bp, Gcfc1 |
| MMRRC Submission |
038517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R0306 (G1)
|
| Quality Score |
224 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90810925-90841267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90819003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 759
(V759A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118522]
[ENSMUST00000145136]
|
| AlphaFold |
P58501 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023698
|
| SMART Domains |
Protein: ENSMUSP00000023698
Gene: ENSMUSG00000022974
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118522
AA Change: V759A
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113835
Gene: ENSMUSG00000022974
AA Change: V759A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
546 |
N/A |
INTRINSIC |
|
Pfam:GCFC
|
597 |
812 |
5.1e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145136
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146281
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150397
|
| Meta Mutation Damage Score |
0.0716 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
94% (61/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l1 |
T |
C |
6: 48,953,020 (GRCm39) |
V315A |
probably damaging |
Het |
| BC028528 |
C |
T |
3: 95,797,132 (GRCm39) |
|
probably benign |
Het |
| Bspry |
T |
C |
4: 62,414,394 (GRCm39) |
F329S |
probably damaging |
Het |
| Cd209a |
A |
G |
8: 3,795,535 (GRCm39) |
Y120H |
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,003,172 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,896 (GRCm39) |
N58D |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,896 (GRCm39) |
|
probably benign |
Het |
| Chst8 |
T |
C |
7: 34,374,723 (GRCm39) |
E372G |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,209,373 (GRCm39) |
V270A |
probably damaging |
Het |
| Ddx49 |
A |
G |
8: 70,747,322 (GRCm39) |
|
probably benign |
Het |
| Ddx52 |
G |
T |
11: 83,835,474 (GRCm39) |
L133F |
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,349,888 (GRCm39) |
I131F |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,654,635 (GRCm39) |
S719T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,916,096 (GRCm39) |
S94G |
possibly damaging |
Het |
| Dytn |
G |
A |
1: 63,724,272 (GRCm39) |
P3S |
possibly damaging |
Het |
| Fmn2 |
T |
C |
1: 174,437,050 (GRCm39) |
|
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,546 (GRCm39) |
L251Q |
probably damaging |
Het |
| Gm19684 |
A |
T |
17: 36,438,300 (GRCm39) |
|
probably benign |
Het |
| Il15 |
T |
A |
8: 83,061,083 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
C |
T |
2: 136,927,855 (GRCm39) |
G852D |
probably damaging |
Het |
| Kbtbd4 |
A |
G |
2: 90,744,530 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
C |
A |
18: 34,937,070 (GRCm39) |
Q451K |
probably benign |
Het |
| Lrfn2 |
A |
T |
17: 49,403,283 (GRCm39) |
I469F |
probably damaging |
Het |
| Mep1a |
A |
T |
17: 43,813,534 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,944,986 (GRCm39) |
F70S |
probably damaging |
Het |
| Nav2 |
C |
A |
7: 49,195,651 (GRCm39) |
P1009Q |
probably benign |
Het |
| Noc3l |
T |
C |
19: 38,796,094 (GRCm39) |
Y334C |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,910,019 (GRCm39) |
Y180* |
probably null |
Het |
| Nup210l |
T |
C |
3: 90,114,675 (GRCm39) |
I1750T |
probably benign |
Het |
| Or51s1 |
A |
T |
7: 102,559,010 (GRCm39) |
I12N |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,907 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,060 (GRCm39) |
I34F |
possibly damaging |
Het |
| Parp14 |
A |
G |
16: 35,676,944 (GRCm39) |
L1008P |
probably benign |
Het |
| Prdm10 |
C |
A |
9: 31,227,520 (GRCm39) |
Q42K |
probably damaging |
Het |
| Prkcsh |
T |
C |
9: 21,917,822 (GRCm39) |
|
probably benign |
Het |
| Psmg1 |
A |
G |
16: 95,788,540 (GRCm39) |
C138R |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,179,893 (GRCm39) |
M1437T |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,606,000 (GRCm39) |
|
probably null |
Het |
| Serpinf1 |
T |
C |
11: 75,304,761 (GRCm39) |
Y200C |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,167 (GRCm39) |
H130R |
probably damaging |
Het |
| Slc22a1 |
A |
G |
17: 12,881,485 (GRCm39) |
F335L |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,975,638 (GRCm39) |
N683S |
probably damaging |
Het |
| Slc9a9 |
A |
T |
9: 95,019,987 (GRCm39) |
T519S |
probably benign |
Het |
| Smarca2 |
T |
A |
19: 26,618,013 (GRCm39) |
L348Q |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,332,855 (GRCm39) |
D521G |
possibly damaging |
Het |
| Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
| Srp19 |
T |
C |
18: 34,467,629 (GRCm39) |
|
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,683 (GRCm39) |
Y222* |
probably null |
Het |
| Syt10 |
T |
G |
15: 89,711,191 (GRCm39) |
K114T |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Trpc4ap |
A |
G |
2: 155,478,180 (GRCm39) |
V662A |
probably benign |
Het |
| Ttll4 |
G |
A |
1: 74,735,916 (GRCm39) |
R1066Q |
probably benign |
Het |
| Tulp2 |
C |
T |
7: 45,168,000 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,895 (GRCm39) |
I28K |
possibly damaging |
Het |
| Vmn2r118 |
A |
C |
17: 55,915,616 (GRCm39) |
F445V |
possibly damaging |
Het |
| Zfp142 |
C |
T |
1: 74,609,341 (GRCm39) |
E1485K |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,621 (GRCm39) |
A292E |
possibly damaging |
Het |
|
| Other mutations in Paxbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Paxbp1
|
APN |
16 |
90,832,804 (GRCm39) |
splice site |
probably benign |
|
|
IGL01705:Paxbp1
|
APN |
16 |
90,813,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02418:Paxbp1
|
APN |
16 |
90,831,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02527:Paxbp1
|
APN |
16 |
90,834,161 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02661:Paxbp1
|
APN |
16 |
90,827,413 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02796:Paxbp1
|
APN |
16 |
90,822,182 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03336:Paxbp1
|
APN |
16 |
90,831,060 (GRCm39) |
missense |
probably benign |
|
|
R0016:Paxbp1
|
UTSW |
16 |
90,832,924 (GRCm39) |
splice site |
probably benign |
|
|
R0331:Paxbp1
|
UTSW |
16 |
90,834,255 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0724:Paxbp1
|
UTSW |
16 |
90,833,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0944:Paxbp1
|
UTSW |
16 |
90,820,315 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1348:Paxbp1
|
UTSW |
16 |
90,831,904 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1909:Paxbp1
|
UTSW |
16 |
90,841,193 (GRCm39) |
unclassified |
probably benign |
|
|
R2234:Paxbp1
|
UTSW |
16 |
90,831,822 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3156:Paxbp1
|
UTSW |
16 |
90,832,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3819:Paxbp1
|
UTSW |
16 |
90,819,640 (GRCm39) |
unclassified |
probably benign |
|
|
R3910:Paxbp1
|
UTSW |
16 |
90,839,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Paxbp1
|
UTSW |
16 |
90,840,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4109:Paxbp1
|
UTSW |
16 |
90,813,786 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4577:Paxbp1
|
UTSW |
16 |
90,812,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4584:Paxbp1
|
UTSW |
16 |
90,831,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Paxbp1
|
UTSW |
16 |
90,827,435 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4837:Paxbp1
|
UTSW |
16 |
90,831,866 (GRCm39) |
nonsense |
probably null |
|
|
R4877:Paxbp1
|
UTSW |
16 |
90,841,199 (GRCm39) |
unclassified |
probably benign |
|
|
R5079:Paxbp1
|
UTSW |
16 |
90,822,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5086:Paxbp1
|
UTSW |
16 |
90,812,104 (GRCm39) |
unclassified |
probably benign |
|
|
R5167:Paxbp1
|
UTSW |
16 |
90,819,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5291:Paxbp1
|
UTSW |
16 |
90,841,240 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5322:Paxbp1
|
UTSW |
16 |
90,812,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5529:Paxbp1
|
UTSW |
16 |
90,827,401 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5662:Paxbp1
|
UTSW |
16 |
90,834,285 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5814:Paxbp1
|
UTSW |
16 |
90,827,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Paxbp1
|
UTSW |
16 |
90,820,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7225:Paxbp1
|
UTSW |
16 |
90,823,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Paxbp1
|
UTSW |
16 |
90,813,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7582:Paxbp1
|
UTSW |
16 |
90,819,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7895:Paxbp1
|
UTSW |
16 |
90,822,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Paxbp1
|
UTSW |
16 |
90,834,303 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8280:Paxbp1
|
UTSW |
16 |
90,831,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8338:Paxbp1
|
UTSW |
16 |
90,833,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Paxbp1
|
UTSW |
16 |
90,832,815 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9024:Paxbp1
|
UTSW |
16 |
90,840,963 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9363:Paxbp1
|
UTSW |
16 |
90,827,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9638:Paxbp1
|
UTSW |
16 |
90,831,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9638:Paxbp1
|
UTSW |
16 |
90,831,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9751:Paxbp1
|
UTSW |
16 |
90,824,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Paxbp1
|
UTSW |
16 |
90,824,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGCTGTGCTGTAAACCTCC -3'
(R):5'- ACACTGCTGGGTCGTTTTCCTG -3'
Sequencing Primer
(F):5'- CTGTGCTGTAAACCTCCTAGAAGG -3'
(R):5'- TGACCCCGTTACTTGAGGAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation