Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Btbd19'

429793

Institutional Source

Beutler Lab

Gene Symbol

Btbd19

Ensembl Gene

ENSMUSG00000073771

Gene Name

BTB domain containing 19

Synonyms

9530048O09Rik

MMRRC Submission

042969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5398 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

116976416-116982922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116980957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 104 (A104V)

Ref Sequence

ENSEMBL: ENSMUSP00000138230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000076859] [ENSMUST00000134074] [ENSMUST00000183310] [ENSMUST00000143213] [ENSMUST00000144269] [ENSMUST00000153257]

AlphaFold

S4R1I0

Predicted Effect

probably benign
Transcript: ENSMUST00000062206

SMART Domains

Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	121	217	3.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076859

SMART Domains

Protein: ENSMUSP00000076130
Gene: ENSMUSG00000028680

Domain	Start	End	E-Value	Type
low complexity region	9	36	N/A	INTRINSIC
S_TKc	63	315	2.15e-96	SMART
Pfam:POLO_box	473	534	2.7e-16	PFAM
low complexity region	554	566	N/A	INTRINSIC
Pfam:POLO_box	570	638	1.2e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097915

SMART Domains

Protein: ENSMUSP00000095528
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126135

Predicted Effect

probably benign
Transcript: ENSMUST00000134074

SMART Domains

Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000183310
AA Change: A104V

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

SMART Domains

Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771
AA Change: A104V

Domain	Start	End	E-Value	Type
BTB	29	124	1.82e-18	SMART
BACK	129	233	4.17e-8	SMART
low complexity region	260	280	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181979

Predicted Effect

probably benign
Transcript: ENSMUST00000143213

Predicted Effect

probably benign
Transcript: ENSMUST00000147730

SMART Domains

Protein: ENSMUSP00000120476
Gene: ENSMUSG00000028680

Domain	Start	End	E-Value	Type
low complexity region	1	9	N/A	INTRINSIC
S_TKc	42	294	2.15e-96	SMART
Pfam:POLO_box	435	496	5.3e-17	PFAM
low complexity region	516	528	N/A	INTRINSIC
Pfam:POLO_box	532	600	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144269

SMART Domains

Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
Pfam:Tctex-1	118	178	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153257

SMART Domains

Protein: ENSMUSP00000121768
Gene: ENSMUSG00000073771

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:BACK	33	84	5e-16	BLAST

Meta Mutation Damage Score

0.5503

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Chac1	T	G	2: 119,183,725 (GRCm39)	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dnajc3	T	A	14: 119,209,799 (GRCm39)	Y291*	probably null	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Ppl	A	G	16: 4,922,786 (GRCm39)	M235T	probably benign	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Tnn	T	A	1: 159,975,092 (GRCm39)	M112L	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	probably damaging	Het

Other mutations in Btbd19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3690:Btbd19	UTSW	4	116,977,789 (GRCm39)	utr 3 prime	probably benign
R3691:Btbd19	UTSW	4	116,977,789 (GRCm39)	utr 3 prime	probably benign
R4907:Btbd19	UTSW	4	116,977,764 (GRCm39)	utr 3 prime	probably benign
R5052:Btbd19	UTSW	4	116,979,454 (GRCm39)	missense	possibly damaging	0.60
R5163:Btbd19	UTSW	4	116,978,628 (GRCm39)	missense	probably damaging	1.00
R5396:Btbd19	UTSW	4	116,980,957 (GRCm39)	missense	probably damaging	1.00
R5399:Btbd19	UTSW	4	116,980,957 (GRCm39)	missense	probably damaging	1.00
R5998:Btbd19	UTSW	4	116,978,196 (GRCm39)	missense	probably benign	0.39
R7313:Btbd19	UTSW	4	116,978,616 (GRCm39)	missense	probably damaging	1.00
R9105:Btbd19	UTSW	4	116,977,961 (GRCm39)	missense	probably damaging	0.98
RF020:Btbd19	UTSW	4	116,979,472 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCACCGTTGCACTGAAGAAC -3'
(R):5'- CCAACACTCTGTGAGCCTAC -3'

Sequencing Primer
(F):5'- CAGCCATAAATACTTCCTGTGC -3'
(R):5'- TCTGTGAGCCTACCAAGCAGAG -3'

Posted On

2016-09-06