Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Btbd3'

220086

Institutional Source

Beutler Lab

Gene Symbol

Btbd3

Ensembl Gene

ENSMUSG00000062098

Gene Name

BTB domain containing 3

Synonyms

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.568) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138098478-138129344 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 138125608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 264 (L264R)

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: L264R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: L264R

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: L195R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: L195R

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ACTTGGCTGCAGACACAGTG -3'
(R):5'- ATCAAGTACAGGGCCTTTCC -3'

Sequencing Primer
(F):5'- TGGCCACACTGTATGCTG -3'
(R):5'- CTAGGACCTTGCGTTTATTTTCAATG -3'

Posted On

2014-08-25