Mutagenetix > Incidental Mutation

Incidental Mutation 'R9696:Btbd18'

729266

Institutional Source

Beutler Lab

Gene Symbol

Btbd18

Ensembl Gene

ENSMUSG00000086598

Gene Name

BTB domain containing 18

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R9696 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84489423-84499124 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 84497854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 497 (C497*)

Ref Sequence

ENSEMBL: ENSMUSP00000142247 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000133437
AA Change: C497*

SMART Domains

Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
AA Change: C497*

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: ENSMUST00000189636

SMART Domains

Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,691,256 (GRCm39)	D105G	possibly damaging	Het
4930407I10Rik	A	G	15: 81,949,697 (GRCm39)	N1198S	probably benign	Het
Abca14	A	T	7: 119,888,734 (GRCm39)	I1227F	possibly damaging	Het
Abhd10	T	C	16: 45,552,042 (GRCm39)	D277G	probably damaging	Het
Adam20	A	G	8: 41,249,633 (GRCm39)	N581S	probably damaging	Het
Apbb1ip	A	T	2: 22,725,989 (GRCm39)	T254S	probably benign	Het
Arap3	T	C	18: 38,112,905 (GRCm39)	T1102A	probably damaging	Het
Asb16	A	T	11: 102,159,766 (GRCm39)	R40W	probably damaging	Het
Birc6	T	A	17: 74,947,292 (GRCm39)	S3019T	probably damaging	Het
Cacna1h	T	C	17: 25,602,215 (GRCm39)	M1542V	possibly damaging	Het
Ccdc8	T	G	7: 16,730,087 (GRCm39)	S525R	unknown	Het
Ch25h	G	A	19: 34,451,947 (GRCm39)	R194W	probably damaging	Het
Ciapin1	C	A	8: 95,555,065 (GRCm39)	L130F	probably damaging	Het
Cnfn	G	T	7: 25,067,515 (GRCm39)	T54N	probably damaging	Het
Cop1	A	T	1: 159,076,783 (GRCm39)	I195F	probably damaging	Het
Daam1	A	G	12: 71,991,147 (GRCm39)	R254G	unknown	Het
Dcaf13	T	C	15: 39,001,496 (GRCm39)	M268T	possibly damaging	Het
Disp3	C	A	4: 148,345,611 (GRCm39)	V410L	probably damaging	Het
Dus4l	A	T	12: 31,696,647 (GRCm39)	I110K	probably damaging	Het
Endov	C	T	11: 119,398,048 (GRCm39)	P271L	probably damaging	Het
Epha2	A	G	4: 141,047,834 (GRCm39)	I539V	probably benign	Het
Ercc4	A	T	16: 12,950,810 (GRCm39)	I635L	probably damaging	Het
Exosc10	A	G	4: 148,649,704 (GRCm39)	D378G	probably damaging	Het
Fmnl1	A	G	11: 103,086,297 (GRCm39)	D804G	unknown	Het
Gm11983	T	A	11: 6,787,020 (GRCm39)	I36F	unknown	Het
Gm11992	A	T	11: 9,006,438 (GRCm39)	I123L	probably benign	Het
Gm19965	T	C	1: 116,730,838 (GRCm39)		probably benign	Het
Gm19965	A	G	1: 116,749,210 (GRCm39)	D297G		Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gse1	T	C	8: 120,956,280 (GRCm39)	V257A	unknown	Het
Haus1	A	T	18: 77,847,202 (GRCm39)	S225T	probably benign	Het
Hgf	A	G	5: 16,777,534 (GRCm39)	Y177C	probably damaging	Het
Insig1	T	C	5: 28,279,546 (GRCm39)	W184R	probably damaging	Het
Krt5	A	T	15: 101,616,141 (GRCm39)	S491R	unknown	Het
Lcn5	A	G	2: 25,550,142 (GRCm39)	I110V	probably benign	Het
Lin9	A	T	1: 180,496,733 (GRCm39)	S341C	possibly damaging	Het
Magi2	C	T	5: 20,670,864 (GRCm39)	H403Y	probably benign	Het
Mapk1ip1l	C	T	14: 47,548,340 (GRCm39)	P163S	probably damaging	Het
Mbtd1	A	G	11: 93,823,218 (GRCm39)	D568G	probably damaging	Het
Mdp1	A	G	14: 55,896,704 (GRCm39)	V119A	probably benign	Het
Me1	A	G	9: 86,469,047 (GRCm39)	I506T	probably damaging	Het
Med1	A	G	11: 98,061,772 (GRCm39)		probably null	Het
Med25	T	A	7: 44,529,524 (GRCm39)	Q656L	probably benign	Het
Memo1	A	C	17: 74,524,041 (GRCm39)	I213S	probably damaging	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mpi	T	C	9: 57,452,539 (GRCm39)	D331G	probably benign	Het
Muc4	T	C	16: 32,574,712 (GRCm39)	I1054T	probably benign	Het
Nat10	T	C	2: 103,556,040 (GRCm39)	E927G	possibly damaging	Het
Nlrp9a	T	C	7: 26,275,033 (GRCm39)	L930P	unknown	Het
Nt5c3b	A	T	11: 100,323,811 (GRCm39)	I167N	probably damaging	Het
Ogdh	T	C	11: 6,289,209 (GRCm39)	S308P	probably damaging	Het
Or2y1b	A	G	11: 49,208,390 (GRCm39)	I6V	probably benign	Het
Or4c108	T	G	2: 88,803,615 (GRCm39)	I207L	probably benign	Het
Or52e5	T	A	7: 104,719,283 (GRCm39)	V203D	probably damaging	Het
Or8b9	G	A	9: 37,766,671 (GRCm39)	E186K	probably benign	Het
Parl	A	G	16: 20,105,690 (GRCm39)	V244A	probably benign	Het
Parp14	G	T	16: 35,661,252 (GRCm39)	D1565E	probably damaging	Het
Parp14	T	C	16: 35,661,251 (GRCm39)	K1566E	possibly damaging	Het
Pcdhb18	T	A	18: 37,623,606 (GRCm39)	I312K	possibly damaging	Het
Pcnp	A	T	16: 55,844,867 (GRCm39)		probably benign	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Rab10	T	A	12: 3,306,947 (GRCm39)	M83L	probably benign	Het
Rabep1	A	G	11: 70,814,029 (GRCm39)	S616G	probably benign	Het
Rnf213	G	A	11: 119,359,806 (GRCm39)	V4400M		Het
Samd9l	T	A	6: 3,375,078 (GRCm39)	I728F	possibly damaging	Het
Scaf4	T	A	16: 90,044,122 (GRCm39)	D620V	unknown	Het
Scnn1b	A	T	7: 121,498,462 (GRCm39)	M1L	probably damaging	Het
Sec23b	T	A	2: 144,428,343 (GRCm39)	M652K	probably benign	Het
Selenoi	T	C	5: 30,453,413 (GRCm39)	F44L	probably benign	Het
Slc36a3	A	T	11: 55,026,161 (GRCm39)	V219E	possibly damaging	Het
Sncaip	A	T	18: 53,038,915 (GRCm39)	Q543L	probably damaging	Het
Stmnd1	A	G	13: 46,443,224 (GRCm39)	I119V	probably damaging	Het
Strn3	T	A	12: 51,676,286 (GRCm39)	E414D	probably damaging	Het
Syne1	T	A	10: 5,297,847 (GRCm39)	H1150L	probably benign	Het
Tdrd7	A	G	4: 46,016,888 (GRCm39)	N676S	possibly damaging	Het
Tgs1	A	T	4: 3,575,071 (GRCm39)	I16F	possibly damaging	Het
Thnsl2	T	G	6: 71,108,930 (GRCm39)	T294P	possibly damaging	Het
Tmem156	A	G	5: 65,231,147 (GRCm39)	I241T	possibly damaging	Het
Unc13a	A	T	8: 72,082,197 (GRCm39)	M1689K	possibly damaging	Het
Uri1	T	C	7: 37,664,738 (GRCm39)	D318G	probably benign	Het
Vmn2r86	T	A	10: 130,285,702 (GRCm39)	Q491L	possibly damaging	Het
Vps13b	C	A	15: 35,675,033 (GRCm39)	Q1718K	possibly damaging	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
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
Z1177:Btbd18	UTSW	2	84,491,912 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCTAGTCCAATGCTGACAGG -3'
(R):5'- TTCTCAGAGCGCATGACAAGG -3'

Sequencing Primer
(F):5'- GGAAGGAATCTGACTTGAATATTGAC -3'
(R):5'- TAAAGGGCTCAACTGGCTC -3'

Posted On

2022-10-06