Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02700:Pax5'

304103

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 #

IGL02700

Quality Score

Status

Chromosome

Chromosomal Location

44524757-44710487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44682722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 141 (T141K)

Ref Sequence

ENSEMBL: ENSMUSP00000103457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014174] [ENSMUST00000102932] [ENSMUST00000107825] [ENSMUST00000107826] [ENSMUST00000107827] [ENSMUST00000134968] [ENSMUST00000173733] [ENSMUST00000173821] [ENSMUST00000143235] [ENSMUST00000174242] [ENSMUST00000165417] [ENSMUST00000146335] [ENSMUST00000186542]

AlphaFold

Q02650

Predicted Effect

probably benign
Transcript: ENSMUST00000014174
AA Change: T141K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: T141K

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: T141K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: T141K

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

possibly damaging
Transcript: ENSMUST00000107825
AA Change: T141K

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: T141K

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 damaging
Transcript: ENSMUST00000107826
AA Change: T141K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
AA Change: T141K

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
AA Change: T141K

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
AA Change: T141K

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

possibly damaging
Transcript: ENSMUST00000134968
AA Change: T141K

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: T141K

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

noncoding transcript
Transcript: ENSMUST00000140826

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173733
AA Change: T75K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133671
Gene: ENSMUSG00000014030
AA Change: T75K

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

possibly damaging
Transcript: ENSMUST00000173821
AA Change: T141K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: T141K

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

probably benign
Transcript: ENSMUST00000143235
AA Change: T141K

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
AA Change: T141K

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 benign
Transcript: ENSMUST00000174242
AA Change: T141K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
AA Change: T141K

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: ENSMUST00000165417
AA Change: T141K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: T141K

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

probably benign
Transcript: ENSMUST00000146335
AA Change: T140K

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000139296
Gene: ENSMUSG00000014030
AA Change: T140K

Domain	Start	End	E-Value	Type
PAX	15	139	8e-96	SMART
low complexity region	156	188	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000174319
AA Change: T85K

SMART Domains

Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
AA Change: T85K

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

unknown
Transcript: ENSMUST00000172866
AA Change: T85K

SMART Domains

Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: T85K

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

noncoding transcript
Transcript: ENSMUST00000191036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187197

Predicted Effect

probably benign
Transcript: ENSMUST00000186542

SMART Domains

Protein: ENSMUSP00000141186
Gene: ENSMUSG00000014030

Domain	Start	End	E-Value	Type
PAX	15	108	1.2e-22	SMART

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,262,161 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,356,942 (GRCm39)	Y1291C	probably damaging	Het
Agtpbp1	C	T	13: 59,676,233 (GRCm39)	C179Y	probably damaging	Het
Capn15	T	C	17: 26,181,982 (GRCm39)	D609G	probably damaging	Het
Cnnm3	T	A	1: 36,552,189 (GRCm39)	F400I	probably damaging	Het
Dst	A	C	1: 34,301,201 (GRCm39)	E1189A	probably damaging	Het
Gcnt1	G	A	19: 17,306,780 (GRCm39)	T315I	probably damaging	Het
H2-M1	T	C	17: 36,982,161 (GRCm39)	I147V	possibly damaging	Het
Hk1	T	C	10: 62,120,590 (GRCm39)	N536D	probably damaging	Het
Klhl5	C	T	5: 65,288,773 (GRCm39)	Q12*	probably null	Het
Lgals12	C	T	19: 7,575,455 (GRCm39)	A294T	probably benign	Het
Mideas	T	C	12: 84,199,636 (GRCm39)	N1028S	probably benign	Het
Mki67	G	T	7: 135,309,931 (GRCm39)	S173R	probably benign	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Obox5	A	G	7: 15,492,888 (GRCm39)	D281G	possibly damaging	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Pacs2	T	A	12: 113,025,330 (GRCm39)	I494N	probably damaging	Het
Phf21b	T	C	15: 84,687,662 (GRCm39)	N230S	probably benign	Het
Rab3gap1	G	T	1: 127,866,342 (GRCm39)	A841S	probably benign	Het
Siglecf	T	C	7: 43,001,802 (GRCm39)	L204P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Snca	G	A	6: 60,804,521 (GRCm39)	T22I	possibly damaging	Het
Syvn1	A	G	19: 6,097,973 (GRCm39)	T4A	probably benign	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Usp42	A	T	5: 143,702,883 (GRCm39)	S579R	probably benign	Het
Vezf1	T	C	11: 87,964,129 (GRCm39)	S94P	probably damaging	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
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
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