Mutagenetix > Incidental Mutation

Incidental Mutation 'R4519:Btbd18'

334103

Institutional Source

Beutler Lab

Gene Symbol

Btbd18

Ensembl Gene

ENSMUSG00000086598

Gene Name

BTB domain containing 18

Synonyms

MMRRC Submission

041590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R4519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84489423-84499124 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84497924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 521 (Y521H)

Ref Sequence

ENSEMBL: ENSMUSP00000142247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053664] [ENSMUST00000102646] [ENSMUST00000102647] [ENSMUST00000111664] [ENSMUST00000111665] [ENSMUST00000117299] [ENSMUST00000133437] [ENSMUST00000189772] [ENSMUST00000189988] [ENSMUST00000189636]

AlphaFold

A0A0A6YY25

Predicted Effect

probably benign
Transcript: ENSMUST00000053664

SMART Domains

Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102646

SMART Domains

Protein: ENSMUSP00000099706
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102647

SMART Domains

Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111664

SMART Domains

Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
Pfam:Thioredoxin	99	205	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111665

SMART Domains

Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117299

SMART Domains

Protein: ENSMUSP00000112635
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123772

Predicted Effect

probably damaging
Transcript: ENSMUST00000133437
AA Change: Y521H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
AA Change: Y521H

Domain	Start	End	E-Value	Type
BTB	34	132	4.96e-11	SMART
low complexity region	217	230	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154179

Predicted Effect

probably benign
Transcript: ENSMUST00000189772

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189988

SMART Domains

Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	96	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189636

SMART Domains

Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	109	1.7e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male germ cell apoptosis and arrested spermiogenesis resulting in azoospermia and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,129,092 (GRCm39)		noncoding transcript	Het
Acadsb	A	T	7: 131,031,733 (GRCm39)	T190S	probably damaging	Het
Adamts17	G	T	7: 66,490,314 (GRCm39)	G132V	probably damaging	Het
Atosa	A	G	9: 74,930,929 (GRCm39)	I957M	probably damaging	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Atp8b4	A	T	2: 126,256,379 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,621,102 (GRCm39)	N220S	probably benign	Het
Ccdc112	T	G	18: 46,420,613 (GRCm39)	E379A	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cntrl	A	T	2: 35,063,123 (GRCm39)	K1573M	probably damaging	Het
Col14a1	A	T	15: 55,251,975 (GRCm39)	I544F	unknown	Het
Cyp20a1	A	T	1: 60,426,306 (GRCm39)	Y416F	probably damaging	Het
Dagla	T	C	19: 10,247,096 (GRCm39)	K132E	probably damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Ddx41	A	T	13: 55,680,957 (GRCm39)	V329E	probably damaging	Het
Dhx32	A	T	7: 133,335,838 (GRCm39)	Y272N	probably damaging	Het
Fam114a1	C	A	5: 65,163,225 (GRCm39)	P174Q	probably benign	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Ghr	T	A	15: 3,362,970 (GRCm39)	L167F	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gm9767	T	C	10: 25,954,756 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Gsdme	A	T	6: 50,206,333 (GRCm39)	I170N	probably damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Kmt2c	T	A	5: 25,568,475 (GRCm39)	K867M	probably damaging	Het
Krt35	A	G	11: 99,985,453 (GRCm39)	V196A	possibly damaging	Het
Ltbp1	A	T	17: 75,671,492 (GRCm39)	M1558L	probably benign	Het
Mcam	T	G	9: 44,052,640 (GRCm39)	M623R	possibly damaging	Het
Mrps26	A	T	2: 130,406,269 (GRCm39)	Q134L	probably benign	Het
Mxra8	T	C	4: 155,927,440 (GRCm39)		probably null	Het
Or13a21	A	G	7: 139,999,123 (GRCm39)	S188P	probably damaging	Het
Or52n20	G	A	7: 104,320,046 (GRCm39)	G46R	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Parg	C	A	14: 31,931,592 (GRCm39)	T404K	probably damaging	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Piezo2	T	C	18: 63,205,951 (GRCm39)	E1486G	probably damaging	Het
Pign	A	T	1: 105,525,391 (GRCm39)		probably null	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Ppp6r1	A	C	7: 4,644,045 (GRCm39)		probably null	Het
Ptdss2	A	G	7: 140,734,491 (GRCm39)	T309A	probably benign	Het
Ptprt	T	C	2: 161,406,609 (GRCm39)	M987V	probably damaging	Het
Rgs17	C	A	10: 5,868,192 (GRCm39)	L9F	probably benign	Het
Rock2	A	G	12: 17,027,738 (GRCm39)	R168G	probably damaging	Het
Rsph4a	T	A	10: 33,787,623 (GRCm39)	L593*	probably null	Het
Scaf11	C	A	15: 96,322,719 (GRCm39)	K108N	probably damaging	Het
Sec23b	T	A	2: 144,423,935 (GRCm39)	M528K	possibly damaging	Het
Shank2	G	A	7: 143,963,942 (GRCm39)	D727N	probably damaging	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Spatc1	A	T	15: 76,176,685 (GRCm39)	I479F	probably damaging	Het
Tmem126b	A	G	7: 90,118,316 (GRCm39)	L188P	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Vmn2r62	A	G	7: 42,413,957 (GRCm39)	F829L	probably damaging	Het

Other mutations in Btbd18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4751:Btbd18	UTSW	2	84,498,265 (GRCm39)	nonsense	probably null
R5209:Btbd18	UTSW	2	84,498,443 (GRCm39)	missense	possibly damaging	0.90
R7126:Btbd18	UTSW	2	84,496,546 (GRCm39)	missense	possibly damaging	0.84
R7153:Btbd18	UTSW	2	84,496,772 (GRCm39)	nonsense	probably null
R7362:Btbd18	UTSW	2	84,491,887 (GRCm39)	nonsense	probably null
R7963:Btbd18	UTSW	2	84,498,239 (GRCm39)	missense	probably benign	0.02
R8094:Btbd18	UTSW	2	84,498,260 (GRCm39)	missense	possibly damaging	0.84
R8821:Btbd18	UTSW	2	84,497,601 (GRCm39)	missense	probably damaging	0.96
R9279:Btbd18	UTSW	2	84,491,920 (GRCm39)	missense	probably damaging	1.00
R9397:Btbd18	UTSW	2	84,497,810 (GRCm39)	missense	probably damaging	0.99
R9443:Btbd18	UTSW	2	84,497,524 (GRCm39)	missense	probably benign	0.01
R9696:Btbd18	UTSW	2	84,497,854 (GRCm39)	nonsense	probably null
Z1177:Btbd18	UTSW	2	84,491,912 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACAACCTTGCTTGGCCAAC -3'
(R):5'- AGTGAAAGTTCCTCTCTACTCACC -3'

Sequencing Primer
(F):5'- GCTTGGCCAACCTTGTGAG -3'
(R):5'- TCTACTCACCTCAGAGGGCATG -3'

Posted On

2015-08-18