Incidental Mutation 'R8527:Pax5'
| ID |
658847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pax5
|
| Ensembl Gene |
ENSMUSG00000014030 |
| Gene Name |
paired box 5 |
| Synonyms |
EBB-1, Pax-5 |
| MMRRC Submission |
067952-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8527 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
44524757-44710487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44570071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 272
(Y272N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014174]
[ENSMUST00000102932]
[ENSMUST00000107825]
[ENSMUST00000107826]
[ENSMUST00000107827]
[ENSMUST00000134968]
[ENSMUST00000143235]
[ENSMUST00000165417]
[ENSMUST00000173733]
[ENSMUST00000173821]
[ENSMUST00000174242]
|
| AlphaFold |
Q02650 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014174
AA Change: Y315N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: Y315N
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
279 |
390 |
6e-53 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102932
AA Change: Y315N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: Y315N
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
276 |
341 |
1.1e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107825
|
| SMART Domains |
Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
2e-4 |
SMART |
|
Pfam:Pax2_C
|
279 |
356 |
5.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107826
|
| SMART Domains |
Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
7e-4 |
SMART |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107827
|
| SMART Domains |
Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
4e-4 |
SMART |
|
low complexity region
|
298 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134968
AA Change: Y272N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: Y272N
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
SCOP:d1ftt__
|
177 |
211 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
233 |
298 |
2.4e-25 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000143235
|
| SMART Domains |
Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
1e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165417
AA Change: Y272N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: Y272N
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
SCOP:d1ftt__
|
177 |
211 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
233 |
347 |
7.3e-55 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: Y259N
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
4 |
85 |
2.44e-27 |
SMART |
|
low complexity region
|
102 |
134 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
165 |
199 |
7e-5 |
SMART |
|
Pfam:Pax2_C
|
224 |
335 |
2.3e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173733
|
| SMART Domains |
Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
120 |
2.93e-30 |
SMART |
|
SCOP:d1ftt__
|
154 |
188 |
1e-4 |
SMART |
|
Pfam:Pax2_C
|
212 |
290 |
8.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173821
|
| SMART Domains |
Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
2e-4 |
SMART |
|
low complexity region
|
306 |
325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000174242
|
| SMART Domains |
Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
16 |
140 |
4.92e-96 |
SMART |
|
low complexity region
|
157 |
189 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
220 |
254 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174319
|
| SMART Domains |
Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
| Domain | Start | End | E-Value | Type |
|---|
|
PAX
|
4 |
85 |
2.44e-27 |
SMART |
|
low complexity region
|
102 |
134 |
N/A |
INTRINSIC |
|
SCOP:d1ftt__
|
165 |
199 |
2e-4 |
SMART |
|
low complexity region
|
251 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.2737 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Null mutants exhibit impaired development of the midbrain resulting in a reduced inferior colliculus and an altered cerebellar folial pattern, failure of B cell differentiation, runting, and high postnatal mortality with few survivors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,349,047 (GRCm39) |
|
probably null |
Het |
| Acsl5 |
A |
G |
19: 55,280,259 (GRCm39) |
T511A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,589,353 (GRCm39) |
I191V |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,428,385 (GRCm39) |
Q254R |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,908,944 (GRCm39) |
L661Q |
possibly damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,055,129 (GRCm39) |
|
probably benign |
Het |
| Braf |
T |
C |
6: 39,604,693 (GRCm39) |
H592R |
probably benign |
Het |
| Ceacam2 |
T |
A |
7: 25,238,155 (GRCm39) |
I90L |
probably benign |
Het |
| Dgcr6 |
T |
C |
16: 17,887,390 (GRCm39) |
|
probably null |
Het |
| Efcab12 |
T |
C |
6: 115,791,535 (GRCm39) |
I546V |
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,322,672 (GRCm39) |
A268E |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Gas6 |
T |
C |
8: 13,515,790 (GRCm39) |
I661V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,174,055 (GRCm39) |
M240L |
possibly damaging |
Het |
| Gm12689 |
A |
G |
4: 99,184,450 (GRCm39) |
D101G |
unknown |
Het |
| Kctd2 |
G |
T |
11: 115,320,310 (GRCm39) |
|
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,533,512 (GRCm39) |
M534L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,396,495 (GRCm39) |
V267D |
possibly damaging |
Het |
| Lca5l |
C |
A |
16: 95,960,438 (GRCm39) |
G675C |
probably damaging |
Het |
| Lmod1 |
T |
C |
1: 135,292,221 (GRCm39) |
F359L |
possibly damaging |
Het |
| Lonrf1 |
G |
T |
8: 36,686,986 (GRCm39) |
N783K |
possibly damaging |
Het |
| Megf10 |
T |
C |
18: 57,425,790 (GRCm39) |
S1059P |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,634 (GRCm39) |
E154G |
probably benign |
Het |
| Mtus2 |
A |
C |
5: 148,240,408 (GRCm39) |
K85T |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,048,570 (GRCm39) |
H586R |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,326,187 (GRCm39) |
T425A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,916,196 (GRCm39) |
Q376L |
probably benign |
Het |
| Rasgrp1 |
A |
T |
2: 117,168,785 (GRCm39) |
D64E |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,315,099 (GRCm39) |
N417K |
probably damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,754 (GRCm39) |
D369G |
probably damaging |
Het |
| Scn3a |
G |
T |
2: 65,327,863 (GRCm39) |
H876N |
probably damaging |
Het |
| Slc29a3 |
A |
G |
10: 60,566,401 (GRCm39) |
S111P |
probably damaging |
Het |
| Smarca2 |
G |
C |
19: 26,654,187 (GRCm39) |
V791L |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,940,224 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,807,834 (GRCm39) |
E1288G |
probably damaging |
Het |
| Tex52 |
G |
A |
6: 128,356,828 (GRCm39) |
V174I |
probably benign |
Het |
| Tjp2 |
C |
A |
19: 24,088,937 (GRCm39) |
G660W |
probably damaging |
Het |
| Tmem121b |
T |
C |
6: 120,469,055 (GRCm39) |
E554G |
probably damaging |
Het |
| Tmem209 |
C |
A |
6: 30,497,237 (GRCm39) |
V318F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,907,634 (GRCm39) |
E1226G |
probably damaging |
Het |
| Traf3ip3 |
T |
A |
1: 192,876,851 (GRCm39) |
I196F |
probably damaging |
Het |
| Trpc4ap |
G |
C |
2: 155,534,132 (GRCm39) |
P32R |
unknown |
Het |
| Vav3 |
A |
G |
3: 109,410,787 (GRCm39) |
K206R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,433,971 (GRCm39) |
E2254G |
unknown |
Het |
|
| Other mutations in Pax5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02369:Pax5
|
APN |
4 |
44,691,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Pax5
|
APN |
4 |
44,682,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02754:Pax5
|
APN |
4 |
44,570,059 (GRCm39) |
missense |
probably damaging |
0.96 |
|
apple
|
UTSW |
4 |
0 () |
unclassified |
|
|
|
Denim
|
UTSW |
4 |
44,645,661 (GRCm39) |
nonsense |
probably null |
|
|
Glacier
|
UTSW |
4 |
44,679,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
glacier2
|
UTSW |
4 |
44,710,407 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
Glacier3
|
UTSW |
4 |
44,679,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
jeans
|
UTSW |
4 |
44,645,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
k2
|
UTSW |
4 |
44,697,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
menshevik
|
UTSW |
4 |
44,570,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Son_of_apple
|
UTSW |
4 |
44,710,583 (GRCm39) |
unclassified |
probably benign |
|
|
R0411:Pax5
|
UTSW |
4 |
44,609,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0415:Pax5
|
UTSW |
4 |
44,691,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Pax5
|
UTSW |
4 |
44,537,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1146:Pax5
|
UTSW |
4 |
44,697,512 (GRCm39) |
splice site |
probably benign |
|
|
R1752:Pax5
|
UTSW |
4 |
44,609,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Pax5
|
UTSW |
4 |
44,691,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Pax5
|
UTSW |
4 |
44,679,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Pax5
|
UTSW |
4 |
44,570,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Pax5
|
UTSW |
4 |
44,710,407 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
|
R5341:Pax5
|
UTSW |
4 |
44,697,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Pax5
|
UTSW |
4 |
44,679,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Pax5
|
UTSW |
4 |
44,691,955 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6871:Pax5
|
UTSW |
4 |
44,710,583 (GRCm39) |
unclassified |
probably benign |
|
|
R7025:Pax5
|
UTSW |
4 |
44,679,501 (GRCm39) |
nonsense |
probably null |
|
|
R7204:Pax5
|
UTSW |
4 |
44,679,485 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7975:Pax5
|
UTSW |
4 |
44,537,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8246:Pax5
|
UTSW |
4 |
44,570,027 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8542:Pax5
|
UTSW |
4 |
44,570,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8836:Pax5
|
UTSW |
4 |
44,645,621 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8847:Pax5
|
UTSW |
4 |
44,691,865 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8987:Pax5
|
UTSW |
4 |
44,645,661 (GRCm39) |
nonsense |
probably null |
|
|
R9404:Pax5
|
UTSW |
4 |
44,645,565 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
S24628:Pax5
|
UTSW |
4 |
44,691,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Pax5
|
UTSW |
4 |
44,691,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pax5
|
UTSW |
4 |
44,697,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pax5
|
UTSW |
4 |
44,697,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCACCTGGACTGCTTTG -3'
(R):5'- CACAGTTTTAGCTTAGGCCTTGC -3'
Sequencing Primer
(F):5'- CTGGACTGCTTTGGGGCG -3'
(R):5'- CCTTGCCAAGTAGAGCCAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation