Mutagenetix > Incidental Mutation

Incidental Mutation 'R8073:Boll'

620315

Institutional Source

Beutler Lab

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 #

R8073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55287817-55402628 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 55394881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087585] [ENSMUST00000114423] [ENSMUST00000159398] [ENSMUST00000159564] [ENSMUST00000173983]

AlphaFold

no structure available at present

Predicted Effect

silent
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

silent
Transcript: ENSMUST00000159398

SMART Domains

Protein: ENSMUSP00000123814
Gene: ENSMUSG00000025977

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

Predicted Effect

silent
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

silent
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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,337,019 (GRCm39)	V533I	probably benign	Het
Akap3	A	T	6: 126,842,736 (GRCm39)	T452S	probably damaging	Het
Angpt1	C	T	15: 42,301,699 (GRCm39)	M436I	probably benign	Het
B3galt4	T	C	17: 34,169,797 (GRCm39)	K147R	probably damaging	Het
Birc6	C	A	17: 74,910,080 (GRCm39)	T1491K	probably damaging	Het
C6	T	C	15: 4,764,675 (GRCm39)	F124L	probably benign	Het
Camta1	T	C	4: 151,163,281 (GRCm39)	Y436C	probably damaging	Het
Celsr1	T	C	15: 85,823,356 (GRCm39)	N1684S	probably benign	Het
Cflar	T	C	1: 58,791,981 (GRCm39)	L428P		Het
Clk4	T	C	11: 51,168,716 (GRCm39)	I363T	probably benign	Het
Cnst	A	G	1: 179,434,002 (GRCm39)	T273A	probably benign	Het
Col5a1	C	T	2: 27,852,141 (GRCm39)	A546V	possibly damaging	Het
Col6a6	T	A	9: 105,659,146 (GRCm39)	N600Y	probably benign	Het
Cxadr	A	G	16: 78,130,301 (GRCm39)	N156S	probably benign	Het
Diaph1	C	T	18: 38,024,850 (GRCm39)	G537E	unknown	Het
Dmxl1	T	A	18: 50,011,500 (GRCm39)	V1219D	probably damaging	Het
Dnajb12	T	A	10: 59,726,001 (GRCm39)	Y95*	probably null	Het
Dnajc5g	A	G	5: 31,269,029 (GRCm39)	T137A	probably benign	Het
Dpy19l3	G	A	7: 35,429,173 (GRCm39)	T89M	probably damaging	Het
Dusp19	C	A	2: 80,447,828 (GRCm39)	T34N	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,758,003 (GRCm39)		probably benign	Het
Enpp1	A	G	10: 24,555,142 (GRCm39)	V68A	possibly damaging	Het
Epha7	T	A	4: 28,821,022 (GRCm39)	D62E	probably damaging	Het
Frmd4b	A	T	6: 97,283,674 (GRCm39)	V445E	probably benign	Het
Gp9	A	C	6: 87,756,336 (GRCm39)	D117A	probably benign	Het
Haao	T	C	17: 84,142,649 (GRCm39)	E152G	possibly damaging	Het
Ift70a2	A	G	2: 75,806,997 (GRCm39)	V505A	probably damaging	Het
Ighd	A	G	12: 113,379,789 (GRCm39)	S52P	probably benign	Het
Ikzf3	T	C	11: 98,358,255 (GRCm39)	K361E	probably benign	Het
Lgi2	T	A	5: 52,704,013 (GRCm39)	E206V	probably benign	Het
Mfsd11	T	A	11: 116,754,749 (GRCm39)	V220E	probably benign	Het
Moxd1	G	T	10: 24,128,848 (GRCm39)	G200C	probably damaging	Het
Mthfd1l	C	A	10: 3,923,417 (GRCm39)	Q55K	probably benign	Het
Nlrp9a	T	A	7: 26,260,260 (GRCm39)	L672M	probably damaging	Het
Npvf	A	C	6: 50,631,349 (GRCm39)	F9V	probably damaging	Het
Nup205	G	T	6: 35,179,104 (GRCm39)		probably null	Het
Nup43	T	C	10: 7,546,713 (GRCm39)	V111A	probably benign	Het
Obscn	C	T	11: 59,026,516 (GRCm39)	R229H	probably benign	Het
Olfml2a	C	A	2: 38,847,766 (GRCm39)	R442S	probably damaging	Het
Or10j2	A	G	1: 173,098,552 (GRCm39)	D270G	probably benign	Het
Or2ag16	C	A	7: 106,352,008 (GRCm39)	E196*	probably null	Het
Or4c120	T	A	2: 89,001,284 (GRCm39)	I91F	probably damaging	Het
Or5b12b	T	A	19: 12,861,980 (GRCm39)	V245E	probably benign	Het
Or9s13	T	A	1: 92,547,806 (GRCm39)	D59E	probably damaging	Het
Pcdhga7	T	C	18: 37,848,398 (GRCm39)	F135S	probably damaging	Het
Pde4a	A	T	9: 21,122,065 (GRCm39)	I654F	probably damaging	Het
Pip5kl1	G	A	2: 32,473,440 (GRCm39)	R359Q	possibly damaging	Het
Ppp2ca	T	C	11: 52,010,124 (GRCm39)	V244A	possibly damaging	Het
Qrich1	T	A	9: 108,411,627 (GRCm39)	L384H	possibly damaging	Het
Rab4a	T	C	8: 124,554,135 (GRCm39)	V62A	possibly damaging	Het
Ranbp10	A	G	8: 106,513,261 (GRCm39)	L217P	probably damaging	Het
Rhebl1	C	T	15: 98,776,405 (GRCm39)	A131T	probably benign	Het
Rnf150	A	T	8: 83,590,546 (GRCm39)		probably benign	Het
Slc32a1	G	A	2: 158,456,685 (GRCm39)	A447T	probably damaging	Het
Spag5	T	A	11: 78,192,803 (GRCm39)	M45K	probably benign	Het
Spata13	A	G	14: 60,928,705 (GRCm39)	N88D	probably damaging	Het
Spred2	C	A	11: 19,958,422 (GRCm39)	T128N	probably benign	Het
Tenm2	T	C	11: 36,030,471 (GRCm39)	E776G	possibly damaging	Het
Tet1	C	G	10: 62,649,132 (GRCm39)	E156Q	probably damaging	Het
Tmc1	T	C	19: 20,845,725 (GRCm39)	N166S	probably benign	Het
Trim43a	C	A	9: 88,464,490 (GRCm39)	Q134K	possibly damaging	Het
Tsks	A	T	7: 44,607,305 (GRCm39)	M543L	probably benign	Het
Ttn	T	C	2: 76,574,181 (GRCm39)	K25571E	probably damaging	Het
Vamp5	C	A	6: 72,357,436 (GRCm39)		probably benign	Het
Vmn2r79	A	T	7: 86,651,462 (GRCm39)	Q287L	probably benign	Het
Zfp326	T	A	5: 106,062,682 (GRCm39)	V517E	unknown	Het
Zfp467	A	T	6: 48,414,959 (GRCm39)	H564Q	probably damaging	Het
Zfp51	G	A	17: 21,684,294 (GRCm39)	C303Y	probably damaging	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
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
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'- TGAATGGCTCCTTGGTCCATAC -3'
(R):5'- CGATAACTTTACCCAGTTAGTGTTC -3'

Sequencing Primer
(F):5'- TGGTCCATACAAAGGTAAAGTTTTAG -3'
(R):5'- CTTTACCCAGTTAGTGTTCTTTGTAG -3'

Posted On

2020-01-23