Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02369:Pax5'

290846

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 #

IGL02369

Quality Score

Status

Chromosome

Chromosomal Location

44524757-44710487 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44691919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 109 (M109K)

Ref Sequence

ENSEMBL: ENSMUSP00000134391 (fasta)

Gene Model

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

AlphaFold

Q02650

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014174
AA Change: M109K

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000014174
Gene: ENSMUSG00000014030
AA Change: M109K

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: M109K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099996
Gene: ENSMUSG00000014030
AA Change: M109K

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
AA Change: M109K

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103455
Gene: ENSMUSG00000014030
AA Change: M109K

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: M109K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103457
Gene: ENSMUSG00000014030
AA Change: M109K

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: M109K

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103458
Gene: ENSMUSG00000014030
AA Change: M109K

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: M109K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133540
Gene: ENSMUSG00000014030
AA Change: M109K

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

probably benign
Transcript: ENSMUST00000143235
AA Change: M109K

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134370
Gene: ENSMUSG00000014030
AA Change: M109K

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: ENSMUST00000174242
AA Change: M109K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134391
Gene: ENSMUSG00000014030
AA Change: M109K

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 damaging
Transcript: ENSMUST00000146335
AA Change: M108K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139296
Gene: ENSMUSG00000014030
AA Change: M108K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165417
AA Change: M109K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128880
Gene: ENSMUSG00000014030
AA Change: M109K

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: ENSMUST00000173821
AA Change: M109K

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134712
Gene: ENSMUSG00000014030
AA Change: M109K

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

unknown
Transcript: ENSMUST00000174319
AA Change: M53K

SMART Domains

Protein: ENSMUSP00000133978
Gene: ENSMUSG00000014030
AA Change: M53K

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: M53K

SMART Domains

Protein: ENSMUSP00000134119
Gene: ENSMUSG00000014030
AA Change: M53K

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: ENSMUST00000187197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174761

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: 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	G	T	6: 39,551,678 (GRCm39)	L148F	probably damaging	Het
Arhgef10	G	A	8: 15,047,551 (GRCm39)	R1138H	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atp6v0b	T	A	4: 117,742,850 (GRCm39)	I79F	possibly damaging	Het
Atp8b5	A	T	4: 43,334,205 (GRCm39)	N324Y	probably benign	Het
Bach2	A	G	4: 32,579,975 (GRCm39)	I610M	possibly damaging	Het
Casr	G	T	16: 36,315,051 (GRCm39)	D929E	probably benign	Het
Cbln2	T	C	18: 86,731,479 (GRCm39)	S96P	probably damaging	Het
Cpxm1	T	C	2: 130,238,344 (GRCm39)	K73E	probably damaging	Het
Erap1	A	G	13: 74,814,645 (GRCm39)	Y457C	probably benign	Het
Etl4	T	C	2: 20,535,000 (GRCm39)	Y152H	probably damaging	Het
Fbh1	A	T	2: 11,751,969 (GRCm39)	S910T	possibly damaging	Het
Gm10142	T	C	10: 77,551,947 (GRCm39)	S103P	probably benign	Het
Gm12886	A	G	4: 121,280,229 (GRCm39)	S16P	unknown	Het
Gpr146	T	C	5: 139,378,443 (GRCm39)	Y82H	probably benign	Het
Herc1	C	T	9: 66,399,293 (GRCm39)	Q4282*	probably null	Het
Htr2a	A	T	14: 74,943,722 (GRCm39)	E434V	probably benign	Het
Iqsec3	T	C	6: 121,389,893 (GRCm39)		probably benign	Het
Islr	A	C	9: 58,064,907 (GRCm39)	V200G	probably damaging	Het
Katnal1	T	C	5: 148,815,737 (GRCm39)	D400G	probably benign	Het
Lonrf2	A	G	1: 38,850,913 (GRCm39)		probably benign	Het
Lrp2	A	T	2: 69,294,980 (GRCm39)	L3446Q	probably damaging	Het
Med12l	G	A	3: 59,164,794 (GRCm39)	V1425I	probably benign	Het
Myh13	T	C	11: 67,251,100 (GRCm39)		probably benign	Het
Nutm2	T	G	13: 50,623,944 (GRCm39)	S214A	probably benign	Het
Or10aa1	T	A	1: 173,869,539 (GRCm39)	W8R	possibly damaging	Het
Or2h1b	A	G	17: 37,462,665 (GRCm39)	F66S	probably damaging	Het
Or5b99	T	C	19: 12,977,072 (GRCm39)	S241P	probably damaging	Het
Or6c33	C	A	10: 129,853,425 (GRCm39)	A65E	possibly damaging	Het
Pfkfb2	G	A	1: 130,628,572 (GRCm39)	R345W	probably damaging	Het
Pkd1l3	A	G	8: 110,342,977 (GRCm39)	D105G	unknown	Het
Prdm11	A	G	2: 92,805,864 (GRCm39)	V362A	probably benign	Het
Prex2	T	C	1: 11,171,393 (GRCm39)		probably null	Het
Prl8a1	T	C	13: 27,760,924 (GRCm39)	T103A	possibly damaging	Het
Rgl1	T	C	1: 152,409,357 (GRCm39)	I493V	probably damaging	Het
Rimkla	A	G	4: 119,335,146 (GRCm39)	V79A	possibly damaging	Het
Ryr2	A	T	13: 11,634,382 (GRCm39)	S3791R	possibly damaging	Het
Sh3rf2	C	A	18: 42,289,222 (GRCm39)	S681*	probably null	Het
Stmnd1	T	A	13: 46,439,029 (GRCm39)	I87K	probably benign	Het
Tspan8	C	A	10: 115,675,782 (GRCm39)	F149L	probably benign	Het
Tspan8	A	C	10: 115,675,783 (GRCm39)	K150Q	probably benign	Het
Ttn	T	C	2: 76,772,720 (GRCm39)	E2425G	probably damaging	Het

Other mutations in Pax5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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