Mutagenetix > Incidental Mutation

Incidental Mutation 'R7362:Btbd18'

571396

Institutional Source

Beutler Lab

Gene Symbol

Btbd18

Ensembl Gene

ENSMUSG00000086598

Gene Name

BTB domain containing 18

Synonyms

MMRRC Submission

045375-MU

Accession Numbers

Essential gene?

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

Stock #

R7362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84489423-84499124 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 84491887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 23 (Q23*)

Ref Sequence

ENSEMBL: ENSMUSP00000142247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133437] [ENSMUST00000189772]

AlphaFold

A0A0A6YY25

Predicted Effect

probably null
Transcript: ENSMUST00000133437
AA Change: Q23*

SMART Domains

Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
AA Change: Q23*

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,295,534 (GRCm39)	R193K	probably damaging	Het
Aoc1	G	T	6: 48,882,345 (GRCm39)	V74L	probably benign	Het
Bfsp1	G	C	2: 143,668,795 (GRCm39)	P601A	probably benign	Het
Bicd1	A	C	6: 149,385,591 (GRCm39)	K108T	probably benign	Het
Ccser1	A	G	6: 61,787,864 (GRCm39)	I227M	unknown	Het
Cd151	G	A	7: 141,049,502 (GRCm39)	V70I	probably benign	Het
Cdh10	A	G	15: 18,899,780 (GRCm39)	T36A	probably benign	Het
Crb2	A	G	2: 37,680,211 (GRCm39)	T380A	probably benign	Het
Csmd3	A	C	15: 47,619,388 (GRCm39)	S1829A	possibly damaging	Het
Dgat2	A	T	7: 98,803,843 (GRCm39)	H359Q	probably damaging	Het
Dhdds	T	C	4: 133,698,441 (GRCm39)	T298A	probably benign	Het
Egfem1	A	G	3: 29,206,069 (GRCm39)	Q102R	probably benign	Het
Eps15	T	A	4: 109,223,439 (GRCm39)		probably null	Het
Ern1	T	A	11: 106,327,949 (GRCm39)	D61V	probably damaging	Het
Fcamr	G	A	1: 130,741,760 (GRCm39)	R511Q	possibly damaging	Het
Grhpr	T	C	4: 44,987,255 (GRCm39)	V213A	probably benign	Het
Gsx2	A	G	5: 75,236,765 (GRCm39)	D115G	possibly damaging	Het
Hoxd3	A	G	2: 74,574,563 (GRCm39)	I70V	possibly damaging	Het
Inpp5a	A	G	7: 139,158,296 (GRCm39)	I408V	probably benign	Het
Kansl3	A	T	1: 36,383,208 (GRCm39)	D759E	possibly damaging	Het
Lrrc37a	T	G	11: 103,348,335 (GRCm39)	T2787P	unknown	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mkln1	T	C	6: 31,445,103 (GRCm39)	I333T	probably benign	Het
Myt1	T	A	2: 181,439,033 (GRCm39)	V227D	probably benign	Het
Or1a1	T	C	11: 74,086,412 (GRCm39)	F28L	probably benign	Het
Or52s1	T	A	7: 102,861,861 (GRCm39)	Y265N	probably damaging	Het
Or7e171-ps1	C	T	9: 19,853,527 (GRCm39)	D70N	probably damaging	Het
Pcf11	A	G	7: 92,302,453 (GRCm39)	L1219P	possibly damaging	Het
Pde6g	T	C	11: 120,338,950 (GRCm39)	E80G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppp3cb	T	A	14: 20,573,719 (GRCm39)	Q304L	probably benign	Het
Prr19	T	C	7: 25,003,343 (GRCm39)	L319P	probably damaging	Het
Prss23	C	T	7: 89,158,972 (GRCm39)	A366T	probably damaging	Het
Rock2	T	C	12: 17,008,422 (GRCm39)	L560P	probably damaging	Het
Simc1	A	T	13: 54,687,517 (GRCm39)	R95S	probably damaging	Het
Slc10a6	A	T	5: 103,776,992 (GRCm39)	V36E	probably damaging	Het
Slco1c1	A	T	6: 141,515,189 (GRCm39)	T695S	probably benign	Het
Spata31h1	T	A	10: 82,128,831 (GRCm39)	Q1393L	possibly damaging	Het
Ssh2	T	C	11: 77,340,476 (GRCm39)	F543L	probably benign	Het
Tecpr2	T	A	12: 110,907,910 (GRCm39)	V999D	possibly damaging	Het
Tnfsf10	A	T	3: 27,389,497 (GRCm39)	Y186F	probably damaging	Het
Tnk2	A	T	16: 32,494,338 (GRCm39)		probably null	Het
Tram1	T	C	1: 13,659,832 (GRCm39)	M39V	probably benign	Het
Uck2	C	T	1: 167,065,211 (GRCm39)	V36I	possibly damaging	Het
Ugcg	T	A	4: 59,217,109 (GRCm39)	M211K	probably damaging	Het
Vash2	A	T	1: 190,692,496 (GRCm39)	S226R	probably damaging	Het
Vmn1r172	T	A	7: 23,359,841 (GRCm39)	M242K	probably damaging	Het
Vmn2r82	A	T	10: 79,232,451 (GRCm39)	M817L	probably benign	Het
Vwa5b1	T	C	4: 138,321,623 (GRCm39)	N390S	probably damaging	Het
Wdr73	T	A	7: 80,550,451 (GRCm39)	D17V	probably damaging	Het
Wdr91	A	T	6: 34,866,050 (GRCm39)	S501T	possibly damaging	Het
Zfp454	A	G	11: 50,777,194 (GRCm39)		probably null	Het

Other mutations in Btbd18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4519:Btbd18	UTSW	2	84,497,924 (GRCm39)	missense	probably damaging	1.00
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
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'- CCTCGGGGTAACTTCTCAGC -3'
(R):5'- TGTCAGCGAGATTATAACATATATAGC -3'

Sequencing Primer
(F):5'- CGGGGTAACTTCTCAGCTTGTG -3'
(R):5'- TTCAGCTCAACCTCGGTT -3'

Posted On

2019-09-13