Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Btbd3'

421555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB domain containing 3

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.568) question?

Stock #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

138098478-138129344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138121681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 121 (M121I)

Ref Sequence

ENSEMBL: ENSMUSP00000074864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075410] [ENSMUST00000091556]

AlphaFold

P58545

Predicted Effect

probably damaging
Transcript: ENSMUST00000075410
AA Change: M121I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: M121I

Domain	Start	End	E-Value	Type
low complexity region	26	51	N/A	INTRINSIC
low complexity region	63	69	N/A	INTRINSIC
low complexity region	89	101	N/A	INTRINSIC
BTB	128	228	5.55e-23	SMART
BACK	234	343	1.11e-12	SMART
Pfam:PHR	384	529	4.1e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091556
AA Change: M52I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: M52I

Domain	Start	End	E-Value	Type
low complexity region	20	32	N/A	INTRINSIC
BTB	59	159	5.55e-23	SMART
BACK	165	274	1.11e-12	SMART
Pfam:PHR	315	461	8.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155646

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,907,229 (GRCm39)	V101A	probably benign	Het
Caprin1	G	A	2: 103,609,850 (GRCm39)	R143C	probably damaging	Het
Cfap206	A	G	4: 34,716,445 (GRCm39)	I340T	possibly damaging	Het
Chmp6	A	G	11: 119,806,273 (GRCm39)	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,415,327 (GRCm39)	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,020,918 (GRCm39)	A430T	possibly damaging	Het
Commd6	A	T	14: 101,874,508 (GRCm39)	V28E	probably damaging	Het
Eno2	T	A	6: 124,740,848 (GRCm39)	Y236F	probably benign	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Evpl	A	G	11: 116,118,753 (GRCm39)	I648T	possibly damaging	Het
Fat1	T	A	8: 45,478,278 (GRCm39)	D2441E	probably damaging	Het
Fat4	T	C	3: 39,012,599 (GRCm39)	V2298A	probably benign	Het
Fbxl8	C	A	8: 105,994,752 (GRCm39)	T88K	probably benign	Het
Ganc	A	G	2: 120,264,247 (GRCm39)	H400R	probably damaging	Het
Helb	G	A	10: 119,925,701 (GRCm39)	T892I	probably damaging	Het
Jaml	A	T	9: 45,005,107 (GRCm39)	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,741,668 (GRCm39)	E599D	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,444,377 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,890,950 (GRCm39)	K7194R	unknown	Het
Or2o1	A	G	11: 49,051,713 (GRCm39)		probably null	Het
Or5m8	A	G	2: 85,822,230 (GRCm39)	Q23R	possibly damaging	Het
Rasgrf2	A	T	13: 92,044,170 (GRCm39)	I961N	probably damaging	Het
Retreg3	T	C	11: 100,991,795 (GRCm39)	D46G	probably damaging	Het
Rtp2	A	C	16: 23,746,326 (GRCm39)	S122A	probably benign	Het
Sbf2	T	A	7: 110,062,139 (GRCm39)	D146V	probably damaging	Het
Slc39a13	A	G	2: 90,893,448 (GRCm39)	V324A	probably damaging	Het
Sptan1	A	G	2: 29,915,593 (GRCm39)	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,498,404 (GRCm39)		probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trpm2	G	A	10: 77,801,906 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,539,276 (GRCm39)	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,752,186 (GRCm39)	V806A	probably damaging	Het
Wdr70	A	G	15: 8,065,352 (GRCm39)	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zan	T	A	5: 137,422,859 (GRCm39)	D2718V	unknown	Het

Other mutations in Btbd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01519:Btbd3	APN	2	138,121,697 (GRCm39)	missense	probably benign	0.05
IGL01650:Btbd3	APN	2	138,126,025 (GRCm39)	missense	probably damaging	1.00
IGL01783:Btbd3	APN	2	138,125,656 (GRCm39)	missense	probably damaging	1.00
IGL03108:Btbd3	APN	2	138,126,043 (GRCm39)	missense	possibly damaging	0.55
IGL03232:Btbd3	APN	2	138,126,063 (GRCm39)	missense	probably damaging	1.00
IGL03259:Btbd3	APN	2	138,121,680 (GRCm39)	missense	probably damaging	1.00
R0540:Btbd3	UTSW	2	138,125,736 (GRCm39)	missense	possibly damaging	0.90
R0607:Btbd3	UTSW	2	138,125,736 (GRCm39)	missense	possibly damaging	0.90
R1171:Btbd3	UTSW	2	138,125,881 (GRCm39)	missense	probably benign	0.03
R1983:Btbd3	UTSW	2	138,125,608 (GRCm39)	missense	probably damaging	0.99
R2034:Btbd3	UTSW	2	138,120,903 (GRCm39)	missense	probably benign	0.15
R5111:Btbd3	UTSW	2	138,120,829 (GRCm39)	start codon destroyed	probably null	0.53
R6170:Btbd3	UTSW	2	138,120,862 (GRCm39)	missense	probably damaging	1.00
R6663:Btbd3	UTSW	2	138,121,003 (GRCm39)	missense	probably benign	0.00
R6708:Btbd3	UTSW	2	138,125,491 (GRCm39)	missense	possibly damaging	0.62
R7210:Btbd3	UTSW	2	138,125,664 (GRCm39)	missense	probably damaging	1.00
R8978:Btbd3	UTSW	2	138,126,055 (GRCm39)	missense	possibly damaging	0.95
R9001:Btbd3	UTSW	2	138,122,296 (GRCm39)	missense	possibly damaging	0.69
R9008:Btbd3	UTSW	2	138,125,453 (GRCm39)	missense	probably benign	0.12
R9801:Btbd3	UTSW	2	138,122,368 (GRCm39)	nonsense	probably null
Z1189:Btbd3	UTSW	2	138,126,010 (GRCm39)	small deletion	probably benign
Z1192:Btbd3	UTSW	2	138,126,010 (GRCm39)	small deletion	probably benign

Posted On

2016-08-02