Mutagenetix > Incidental Mutation

Incidental Mutation 'R2849:Boll'

251902

Institutional Source

Beutler Lab

Gene Symbol

Boll

Ensembl Gene

ENSMUSG00000025977

Gene Name

boule homolog, RNA binding protein

Synonyms

4930554P13Rik, 4930597B14Rik

MMRRC Submission

040442-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R2849 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55287817-55402628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55385532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 131 (M131T)

Ref Sequence

ENSEMBL: ENSMUSP00000123814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087585] [ENSMUST00000114423] [ENSMUST00000159398] [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

possibly damaging
Transcript: ENSMUST00000159398
AA Change: M131T

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123814
Gene: ENSMUSG00000025977
AA Change: M131T

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
RRM	46	118	1.09e-24	SMART

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174065

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adcy7	A	G	8: 89,054,021 (GRCm39)	I1017V	probably benign	Het
Agpat2	A	G	2: 26,487,251 (GRCm39)	I109T	probably damaging	Het
Aldh9a1	G	A	1: 167,180,197 (GRCm39)	R97H	probably damaging	Het
Als2	G	A	1: 59,245,697 (GRCm39)	T593M	probably damaging	Het
Ap3d1	G	C	10: 80,577,742 (GRCm39)	H28Q	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Begain	T	A	12: 108,999,044 (GRCm39)	M576L	probably benign	Het
Bod1l	T	C	5: 41,995,419 (GRCm39)	N109S	probably damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cers2	T	C	3: 95,229,770 (GRCm39)	F330L	probably benign	Het
Chst13	T	C	6: 90,286,140 (GRCm39)	D274G	probably benign	Het
Cimap1a	A	G	7: 140,429,182 (GRCm39)	T156A	probably benign	Het
Cstdc5	T	A	16: 36,187,814 (GRCm39)	Q17L	probably damaging	Het
Dclk2	A	G	3: 86,700,530 (GRCm39)	V649A	probably damaging	Het
Deaf1	T	C	7: 140,894,367 (GRCm39)	*54W	probably null	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fbxo32	C	T	15: 58,071,368 (GRCm39)	S71N	probably benign	Het
Fbxo42	T	A	4: 140,927,821 (GRCm39)	N700K	probably damaging	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Fyco1	A	T	9: 123,663,891 (GRCm39)	L121*	probably null	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtf2ird1	G	A	5: 134,387,861 (GRCm39)	T946I	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Josd2	A	G	7: 44,118,397 (GRCm39)		probably null	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Lrp1	C	T	10: 127,378,165 (GRCm39)	A4052T	probably damaging	Het
Lrrtm3	T	C	10: 63,924,810 (GRCm39)	N119S	probably damaging	Het
Lypd6	C	T	2: 50,055,664 (GRCm39)	P38L	probably damaging	Het
Msl3l2	T	C	10: 55,991,538 (GRCm39)	C88R	probably benign	Het
Nsd1	A	G	13: 55,361,505 (GRCm39)	T158A	probably damaging	Het
Nudt22	A	T	19: 6,970,852 (GRCm39)	S239R	probably benign	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Or52r1c	A	T	7: 102,735,319 (GRCm39)	D193V	probably damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pcnx2	A	G	8: 126,487,666 (GRCm39)	F1779S	probably damaging	Het
Plxna4	T	C	6: 32,162,467 (GRCm39)	K1349E	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppp4r4	T	C	12: 103,573,192 (GRCm39)	V697A	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Slc6a15	C	A	10: 103,240,552 (GRCm39)	H392N	probably benign	Het
Slco6d1	C	T	1: 98,394,441 (GRCm39)	T375I	probably benign	Het
Smpd4	A	G	16: 17,460,076 (GRCm39)	D436G	probably damaging	Het
Spata22	G	A	11: 73,244,571 (GRCm39)	W311*	probably null	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tle6	T	A	10: 81,430,235 (GRCm39)	I306F	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trim24	T	A	6: 37,933,388 (GRCm39)	S656T	probably damaging	Het
Trnau1ap	C	A	4: 132,049,045 (GRCm39)	V119F	possibly damaging	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn1r82	T	C	7: 12,039,333 (GRCm39)	V202A	probably damaging	Het
Zfp607b	G	A	7: 27,401,819 (GRCm39)	V92I	probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zw10	A	G	9: 48,968,941 (GRCm39)		probably null	Het

Other mutations in Boll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Boll	APN	1	55,344,827 (GRCm39)	splice site	probably benign
IGL01575:Boll	APN	1	55,362,807 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TCATGATACACAGTACTTTGTATGC -3'
(R):5'- CATACAATGTCTGCCAATTTCATAC -3'

Sequencing Primer
(F):5'- GTTCAGATATATTTCCCCTACACCC -3'
(R):5'- CAATTTCATACTGGGTTTTGTCACTG -3'

Posted On

2014-12-04