Incidental Mutation 'IGL02754:Pax5'
ID 306362
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pax5
Ensembl Gene ENSMUSG00000014030
Gene Name paired box 5
Synonyms EBB-1, Pax-5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02754
Quality Score
Status
Chromosome 4
Chromosomal Location 44524757-44710487 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44570059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 319 (V319I)
Ref Sequence ENSEMBL: ENSMUSP00000099996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014174] [ENSMUST00000102932] [ENSMUST00000107825] [ENSMUST00000107826] [ENSMUST00000107827] [ENSMUST00000134968] [ENSMUST00000165417] [ENSMUST00000174242] [ENSMUST00000143235] [ENSMUST00000173733] [ENSMUST00000173821]
AlphaFold Q02650
Predicted Effect possibly damaging
Transcript: ENSMUST00000014174
AA Change: V319I

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: V319I

DomainStartEndE-ValueType
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: V319I

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: V319I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000134968
AA Change: V276I

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: V276I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000165417
AA Change: V276I

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: V276I

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000174242
SMART Domains Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 2e-3 SMART
Predicted Effect unknown
Transcript: ENSMUST00000194075
AA Change: V136I
Predicted Effect unknown
Transcript: ENSMUST00000172866
AA Change: V263I
SMART Domains Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: V263I

DomainStartEndE-ValueType
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 silent
Transcript: ENSMUST00000143235
SMART Domains Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
PAX 16 140 4.92e-96 SMART
low complexity region 157 189 N/A INTRINSIC
SCOP:d1ftt__ 220 254 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172949
Predicted Effect probably benign
Transcript: ENSMUST00000173733
SMART Domains Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
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: ENSMUST00000174319
SMART Domains Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000173821
SMART Domains Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,507,922 (GRCm39) R405* probably null Het
AW551984 C T 9: 39,504,624 (GRCm39) probably null Het
Bdp1 T C 13: 100,197,481 (GRCm39) E968G possibly damaging Het
Ccdc68 T C 18: 70,076,935 (GRCm39) probably null Het
Ccdc87 T A 19: 4,889,889 (GRCm39) L127H probably damaging Het
Cdk5r1 G T 11: 80,368,569 (GRCm39) A79S probably benign Het
Cdyl A T 13: 35,867,725 (GRCm39) probably benign Het
Cfdp1 A G 8: 112,580,766 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,111,339 (GRCm39) I62F probably damaging Het
Cnot1 A T 8: 96,481,706 (GRCm39) I789K probably benign Het
Cobl T C 11: 12,204,371 (GRCm39) K695R probably damaging Het
Cobl C A 11: 12,204,370 (GRCm39) K752N probably damaging Het
Cstdc5 G A 16: 36,179,899 (GRCm39) P73S probably benign Het
Dcaf6 T C 1: 165,165,915 (GRCm39) probably null Het
Ece2 A T 16: 20,451,398 (GRCm39) I197F probably damaging Het
Eif2b5 T G 16: 20,321,536 (GRCm39) V363G possibly damaging Het
Gca T C 2: 62,502,702 (GRCm39) S37P probably benign Het
Ghsr A C 3: 27,426,645 (GRCm39) I234L probably damaging Het
Grin3b A T 10: 79,808,723 (GRCm39) I158F possibly damaging Het
Gtf2h2 A T 13: 100,617,747 (GRCm39) D178E probably damaging Het
Herc2 A G 7: 55,747,246 (GRCm39) E461G probably damaging Het
Hsph1 T A 5: 149,547,057 (GRCm39) N531I possibly damaging Het
Insl6 G T 19: 29,302,529 (GRCm39) Q63K probably benign Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lvrn C T 18: 47,023,971 (GRCm39) Q773* probably null Het
Mterf1b T C 5: 4,246,478 (GRCm39) F40L possibly damaging Het
Nrg1 G A 8: 32,316,391 (GRCm39) probably benign Het
Or10ak13 T A 4: 118,639,117 (GRCm39) I222F possibly damaging Het
Or1n1 T A 2: 36,750,232 (GRCm39) I43F probably damaging Het
Or5p79 T C 7: 108,221,880 (GRCm39) I287T possibly damaging Het
Plcz1 T A 6: 139,956,307 (GRCm39) T321S probably benign Het
Plekha6 A G 1: 133,212,676 (GRCm39) E660G probably damaging Het
Prep T C 10: 44,943,428 (GRCm39) M1T probably null Het
Prickle1 C T 15: 93,399,034 (GRCm39) S598N possibly damaging Het
Prtn3 A G 10: 79,716,932 (GRCm39) Q99R probably benign Het
Rad50 A G 11: 53,592,883 (GRCm39) V89A probably damaging Het
Ret T C 6: 118,153,213 (GRCm39) Y485C probably benign Het
Setd2 T A 9: 110,379,124 (GRCm39) F980I possibly damaging Het
Slc44a4 A G 17: 35,140,279 (GRCm39) Y228C probably damaging Het
Tex10 C T 4: 48,435,028 (GRCm39) C779Y possibly damaging Het
Tfdp2 T G 9: 96,199,592 (GRCm39) S285A probably benign Het
Thsd4 T A 9: 59,896,380 (GRCm39) probably benign Het
Tmem106a A C 11: 101,481,219 (GRCm39) E242D probably benign Het
Ttc22 T C 4: 106,495,669 (GRCm39) V341A probably benign Het
Ubr4 T A 4: 139,138,095 (GRCm39) S1151T probably damaging Het
Ubr4 G A 4: 139,120,470 (GRCm39) probably null Het
Vmn1r206 A T 13: 22,805,060 (GRCm39) L49* probably null Het
Vmn1r233 A T 17: 21,214,887 (GRCm39) F21Y probably benign Het
Vmn1r233 A T 17: 21,214,886 (GRCm39) F21L probably benign Het
Vmn2r15 A T 5: 109,441,134 (GRCm39) C241* probably null Het
Zmym6 T A 4: 127,003,764 (GRCm39) probably benign Het
Other mutations in Pax5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8527:Pax5 UTSW 4 44,570,071 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16