Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Btbd17'

553357

Institutional Source

Beutler Lab

Gene Symbol

Btbd17

Ensembl Gene

ENSMUSG00000000202

Gene Name

BTB (POZ) domain containing 17

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114791217-114795945 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114791815 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 357 (N357S)

Ref Sequence

ENSEMBL: ENSMUSP00000000206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000206] [ENSMUST00000084368] [ENSMUST00000138804]

AlphaFold

Q9DB72

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000206
AA Change: N357S

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000000206
Gene: ENSMUSG00000000202
AA Change: N357S

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
BTB	63	162	2.01e-11	SMART
BACK	169	269	8.58e-19	SMART
Blast:BACK	425	460	1e-14	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000084368

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
KISc	9	354	4.53e-150	SMART
coiled coil region	361	388	N/A	INTRINSIC
coiled coil region	431	449	N/A	INTRINSIC
coiled coil region	506	551	N/A	INTRINSIC
low complexity region	628	641	N/A	INTRINSIC
low complexity region	750	766	N/A	INTRINSIC
low complexity region	807	815	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138340

SMART Domains

Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138804

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
KISc	9	312	2.99e-118	SMART
coiled coil region	319	346	N/A	INTRINSIC
coiled coil region	389	407	N/A	INTRINSIC
coiled coil region	464	509	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	683	692	N/A	INTRINSIC

Meta Mutation Damage Score

0.2436

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	C	1: 74,284,111		probably null	Het
Abhd10	C	T	16: 45,742,806	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,492,501	Y3369H	probably benign	Het
Agl	A	G	3: 116,753,286	I1305T	probably benign	Het
Apba3	A	G	10: 81,273,055	I551V	probably damaging	Het
Appbp2	A	T	11: 85,191,751	Y551*	probably null	Het
Casp2	T	C	6: 42,280,395	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,113,001	N35D	probably benign	Het
Cep350	G	T	1: 155,914,748	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,539,851	C243R	probably damaging	Het
Chst4	A	T	8: 110,030,839	S131T	probably damaging	Het
Cox15	T	C	19: 43,736,747	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,468	R1467H	probably benign	Het
Dock8	A	G	19: 25,181,620	D1714G	probably null	Het
Erbb2	G	T	11: 98,427,309	R457L	probably damaging	Het
Esyt3	T	C	9: 99,321,440	N463S	probably benign	Het
Fam171a1	C	T	2: 3,225,152	Q441*	probably null	Het
Fam186b	T	A	15: 99,283,892	M142L	probably benign	Het
Git2	G	T	5: 114,769,698	C35*	probably null	Het
Gm21103	T	G	14: 6,301,807	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Hmcn2	C	A	2: 31,360,896	T790K	probably benign	Het
Hspg2	T	A	4: 137,552,116	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,572,981	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,512	Y1106*	probably null	Het
Khsrp	T	C	17: 57,025,602	D226G	possibly damaging	Het
Klre1	T	A	6: 129,583,166	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,629,977	I10T	probably benign	Het
Map4	T	C	9: 109,978,870	M1T	probably null	Het
Met	T	A	6: 17,527,155	I535K	probably benign	Het
Mrgprb1	A	G	7: 48,447,687	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,974,456	L68P	probably damaging	Het
Mtmr4	T	C	11: 87,600,613	W135R	probably damaging	Het
Mut	T	C	17: 40,952,839	V500A	possibly damaging	Het
Myh10	A	G	11: 68,802,139	D1420G	probably benign	Het
Naglu	A	C	11: 101,072,230	D229A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Ncln	G	T	10: 81,487,849	Y517*	probably null	Het
Nr1h4	G	A	10: 89,498,229	R100*	probably null	Het
Olfr173	G	A	16: 58,797,408	T146M	probably benign	Het
P2rx5	A	T	11: 73,160,648	T18S	probably damaging	Het
Pclo	T	C	5: 14,679,257	S2710P	unknown	Het
Pdhx	A	T	2: 103,073,314	F46I	probably benign	Het
Piezo2	A	T	18: 63,145,110	L241*	probably null	Het
Pitpnm1	G	A	19: 4,102,787	V65M	probably damaging	Het
Rgs3	A	G	4: 62,690,487	D330G	probably damaging	Het
Scaf8	T	C	17: 3,159,182	V60A	unknown	Het
Sema4c	A	G	1: 36,553,020	Y249H	probably damaging	Het
Spp2	T	C	1: 88,407,328	Y27H	probably damaging	Het
Sugct	T	A	13: 17,644,787	I158F	possibly damaging	Het
Sympk	A	T	7: 19,054,092	I1178F	probably benign	Het
Tmppe	T	C	9: 114,404,968	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,448,508	T187A		Het
Tspoap1	A	G	11: 87,774,697	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,034,669	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,558,836	S811C	probably benign	Het
Zfp638	T	C	6: 83,867,199	S15P	unknown	Het
Zfp763	A	G	17: 33,018,795	S459P	probably damaging	Het

Other mutations in Btbd17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Btbd17	APN	11	114795773	missense	probably benign	0.00
R1713:Btbd17	UTSW	11	114795824	missense	probably benign	0.03
R2072:Btbd17	UTSW	11	114791952	splice site	probably null
R2074:Btbd17	UTSW	11	114791952	splice site	probably null
R2075:Btbd17	UTSW	11	114791952	splice site	probably null
R4461:Btbd17	UTSW	11	114793989	missense	possibly damaging	0.83
R4664:Btbd17	UTSW	11	114794006	missense	probably damaging	1.00
R4667:Btbd17	UTSW	11	114793857	missense	possibly damaging	0.76
R4698:Btbd17	UTSW	11	114791717	missense	probably damaging	1.00
R4888:Btbd17	UTSW	11	114794091	missense	possibly damaging	0.59
R5250:Btbd17	UTSW	11	114791408	unclassified	probably benign
R6572:Btbd17	UTSW	11	114792220	missense	probably damaging	1.00
R6592:Btbd17	UTSW	11	114791476	missense	probably damaging	1.00
R7215:Btbd17	UTSW	11	114791465	missense	possibly damaging	0.67
R7986:Btbd17	UTSW	11	114792515	missense	probably damaging	1.00
R9320:Btbd17	UTSW	11	114794084	missense	possibly damaging	0.93
R9379:Btbd17	UTSW	11	114791923	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CTTCGCTGCTTTGATGGAAG -3'
(R):5'- TGCTGCAGGCTTACCAGTTC -3'

Sequencing Primer
(F):5'- GCTTTGATGGAAGCTGTAGGC -3'
(R):5'- CCGTTGCATTACGCCAAG -3'

Posted On

2019-05-15