Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01555:Boll'

90703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Boll

Ensembl Gene

ENSMUSG00000025977

Gene Name

boule homolog, RNA binding protein

Synonyms

4930554P13Rik, 4930597B14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL01555

Quality Score

Status

Chromosome

Chromosomal Location

55287817-55402628 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55344827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087585] [ENSMUST00000114423] [ENSMUST00000159564] [ENSMUST00000173983]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000087585

SMART Domains

Protein: ENSMUSP00000084868
Gene: ENSMUSG00000025977

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
RRM	46	118	1.09e-24	SMART
low complexity region	166	180	N/A	INTRINSIC
low complexity region	184	200	N/A	INTRINSIC
low complexity region	271	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114423

SMART Domains

Protein: ENSMUSP00000110066
Gene: ENSMUSG00000025977

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC
low complexity region	51	67	N/A	INTRINSIC
low complexity region	138	154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159564

SMART Domains

Protein: ENSMUSP00000124962
Gene: ENSMUSG00000025977

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:RRM_1	47	87	2.7e-12	PFAM
Pfam:RRM_6	47	87	4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173983

SMART Domains

Protein: ENSMUSP00000134054
Gene: ENSMUSG00000025977

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
RRM	33	105	1.09e-24	SMART
low complexity region	153	167	N/A	INTRINSIC
low complexity region	171	187	N/A	INTRINSIC
low complexity region	258	274	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 belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit infertility due to arrested spermatogenesis at step 6 in spermiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
A3galt2	G	A	4: 128,655,851 (GRCm39)	C73Y	probably damaging	Het
Arid4a	C	T	12: 71,108,301 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,626,618 (GRCm39)	V1706A	probably damaging	Het
Camsap1	A	T	2: 25,829,405 (GRCm39)	M773K	possibly damaging	Het
Dhx9	A	T	1: 153,335,312 (GRCm39)	D929E	probably damaging	Het
Ect2l	A	G	10: 18,006,478 (GRCm39)	L775P	probably damaging	Het
Fat2	A	T	11: 55,169,756 (GRCm39)	V3001D	probably damaging	Het
Kcnh6	A	T	11: 105,908,445 (GRCm39)	I354F	probably damaging	Het
Nemp2	T	A	1: 52,680,202 (GRCm39)	V142E	probably damaging	Het
Nipal2	A	T	15: 34,600,264 (GRCm39)		probably benign	Het
Otop1	A	G	5: 38,460,188 (GRCm39)	Y585C	probably damaging	Het
Peli3	T	C	19: 4,985,086 (GRCm39)	T108A	probably damaging	Het
Pramel6	T	C	2: 87,341,129 (GRCm39)		probably benign	Het
Rbfa	G	A	18: 80,241,015 (GRCm39)	T83I	possibly damaging	Het
Speer1k	A	T	5: 10,999,051 (GRCm39)		probably benign	Het
Sstr2	A	T	11: 113,516,445 (GRCm39)	I342F	probably benign	Het
Tll2	T	A	19: 41,074,805 (GRCm39)	I920L	probably benign	Het

Other mutations in Boll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01575:Boll	APN	1	55,362,807 (GRCm39)	critical splice donor site	probably null
R2849:Boll	UTSW	1	55,385,532 (GRCm39)	missense	possibly damaging	0.53
R5030:Boll	UTSW	1	55,394,894 (GRCm39)	missense	probably damaging	1.00
R6150:Boll	UTSW	1	55,309,812 (GRCm39)	missense	possibly damaging	0.86
R7325:Boll	UTSW	1	55,343,757 (GRCm39)	missense	probably damaging	1.00
R7455:Boll	UTSW	1	55,339,262 (GRCm39)	missense	probably benign	0.18
R7789:Boll	UTSW	1	55,399,826 (GRCm39)	splice site	probably null
R8046:Boll	UTSW	1	55,385,562 (GRCm39)	missense	probably damaging	0.98
R8073:Boll	UTSW	1	55,394,881 (GRCm39)	start gained	probably benign
R8181:Boll	UTSW	1	55,402,478 (GRCm39)	start codon destroyed	probably benign
R8377:Boll	UTSW	1	55,362,837 (GRCm39)	missense	possibly damaging	0.89
R9276:Boll	UTSW	1	55,399,812 (GRCm39)	missense	possibly damaging	0.87

Posted On

2013-12-09