Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:Btbd3'

560978

Institutional Source

Beutler Lab

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB domain containing 3

Synonyms

MMRRC Submission

045239-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138098478-138129344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138125664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 283 (R283W)

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: R283W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: R283W

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

probably damaging
Transcript: ENSMUST00000091556
AA Change: R214W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: R214W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,264,767 (GRCm39)	P194S	probably benign	Het
Ackr2	C	T	9: 121,737,943 (GRCm39)	A106V	possibly damaging	Het
Alg3	G	A	16: 20,424,644 (GRCm39)	P112L	unknown	Het
Areg	T	A	5: 91,288,764 (GRCm39)	Y23*	probably null	Het
Aspn	A	G	13: 49,719,967 (GRCm39)	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,729,241 (GRCm39)	E249D	possibly damaging	Het
Bptf	G	A	11: 106,945,290 (GRCm39)	Q2650*	probably null	Het
Cep131	T	C	11: 119,955,615 (GRCm39)	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,433,900 (GRCm39)	Y959*	probably null	Het
Cnot1	T	C	8: 96,515,286 (GRCm39)	Y25C	probably damaging	Het
Crebbp	G	A	16: 3,902,121 (GRCm39)	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,086,547 (GRCm39)	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,744,246 (GRCm39)	D362V	probably damaging	Het
D630003M21Rik	T	A	2: 158,057,932 (GRCm39)		probably null	Het
Dpp6	T	C	5: 27,803,801 (GRCm39)	I249T	probably damaging	Het
Fam149b	T	G	14: 20,428,540 (GRCm39)	I475M	probably damaging	Het
Fat1	A	G	8: 45,476,540 (GRCm39)	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,353,719 (GRCm39)	N355Y	possibly damaging	Het
Fgd6	C	T	10: 93,969,954 (GRCm39)	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,788,692 (GRCm39)	D174V	probably damaging	Het
Gatb	A	G	3: 85,481,527 (GRCm39)	H26R	probably benign	Het
Gm37240	T	A	3: 84,405,114 (GRCm39)	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135 (GRCm39)	Q609R	probably damaging	Het
Gse1	C	A	8: 120,957,441 (GRCm39)	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,571,564 (GRCm39)	I298L	probably benign	Het
Il31ra	T	C	13: 112,686,034 (GRCm39)	D85G	possibly damaging	Het
Katnip	T	C	7: 125,471,411 (GRCm39)	V1504A	probably damaging	Het
Lyst	T	C	13: 13,831,568 (GRCm39)	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,794,722 (GRCm39)	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,140,155 (GRCm39)	R212C	probably damaging	Het
Myom2	T	C	8: 15,154,114 (GRCm39)	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nop58	G	T	1: 59,749,539 (GRCm39)		probably null	Het
Nudt13	T	A	14: 20,359,852 (GRCm39)	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,736,244 (GRCm39)	R81L	probably damaging	Het
Or1e28-ps1	T	C	11: 73,615,699 (GRCm39)	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,010,069 (GRCm39)		probably benign	Het
Pcf11	C	T	7: 92,312,684 (GRCm39)	A230T	probably benign	Het
Phactr4	A	T	4: 132,085,582 (GRCm39)	*695R	probably null	Het
Pkd1	T	C	17: 24,794,840 (GRCm39)	S2176P	probably damaging	Het
Plch2	C	A	4: 155,093,543 (GRCm39)	R133L	probably damaging	Het
Ptprq	G	T	10: 107,521,032 (GRCm39)	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,580,793 (GRCm39)	T137S	probably benign	Het
R3hdm1	A	G	1: 128,138,945 (GRCm39)	Y718C	possibly damaging	Het
Rftn1	T	A	17: 50,301,335 (GRCm39)	R505*	probably null	Het
Rps15a	A	G	7: 117,708,334 (GRCm39)	F128L	probably benign	Het
Slc25a25	A	T	2: 32,310,408 (GRCm39)	M177K	possibly damaging	Het
Smgc	C	A	15: 91,744,492 (GRCm39)	P631Q	probably damaging	Het
Sox2	T	C	3: 34,705,306 (GRCm39)	S248P	probably damaging	Het
Sycp1	T	C	3: 102,760,808 (GRCm39)	K702E	probably damaging	Het
Tes	G	T	6: 17,104,761 (GRCm39)	C414F	probably damaging	Het
Tet1	A	T	10: 62,650,280 (GRCm39)	C14S	probably null	Het
Tle3	C	T	9: 61,319,587 (GRCm39)	P452S	probably damaging	Het
Tmc6	A	C	11: 117,666,670 (GRCm39)	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,570,495 (GRCm39)	R30*	probably null	Het
Tnrc6b	G	T	15: 80,813,486 (GRCm39)	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,558,284 (GRCm39)	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,920,480 (GRCm39)	R246S	probably damaging	Het
Zscan22	T	A	7: 12,640,748 (GRCm39)	C331S	probably damaging	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
IGL03405:Btbd3	APN	2	138,121,681 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- ATAGTTCCTCACCTCGCCAG -3'
(R):5'- AGACTGTGCAGCACCATTTG -3'

Sequencing Primer
(F):5'- AGCCTGTGTTAATTTCCTGGAGACC -3'
(R):5'- TTTGCAAAGTCATCCAGGGC -3'

Posted On

2019-06-26