Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Btbd10'

548123

Institutional Source

Beutler Lab

Gene Symbol

Btbd10

Ensembl Gene

ENSMUSG00000038187

Gene Name

BTB domain containing 10

Synonyms

Gmrp1, 1110056N09Rik

MMRRC Submission

045156-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.318) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112914833-112968599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112929129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 159 (R159H)

Ref Sequence

ENSEMBL: ENSMUSP00000113632 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047091] [ENSMUST00000117577] [ENSMUST00000119278] [ENSMUST00000135510]

AlphaFold

Q80X66

Predicted Effect

probably damaging
Transcript: ENSMUST00000047091
AA Change: R207H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: R207H

Domain	Start	End	E-Value	Type
low complexity region	60	75	N/A	INTRINSIC
low complexity region	106	147	N/A	INTRINSIC
BTB	167	272	1.58e-4	SMART
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117577
AA Change: R215H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: R215H

Domain	Start	End	E-Value	Type
low complexity region	68	83	N/A	INTRINSIC
low complexity region	114	155	N/A	INTRINSIC
BTB	175	280	1.58e-4	SMART
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119278
AA Change: R159H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: R159H

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
low complexity region	58	99	N/A	INTRINSIC
BTB	119	224	1.58e-4	SMART
low complexity region	263	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135510

SMART Domains

Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187

Domain	Start	End	E-Value	Type
low complexity region	60	75	N/A	INTRINSIC
low complexity region	106	147	N/A	INTRINSIC
SCOP:d1t1da_	167	198	3e-6	SMART
Blast:BTB	167	200	1e-15	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

All alleles(12) : Targeted(2) Gene trapped(10)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,509 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,020,971 (GRCm39)	T5A	probably benign	Het
Abraxas1	T	C	5: 100,954,103 (GRCm39)	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,468,295 (GRCm39)	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,492,127 (GRCm39)	T125S	probably benign	Het
Asah1	A	T	8: 41,800,106 (GRCm39)	N169K	probably damaging	Het
Atl3	A	G	19: 7,511,333 (GRCm39)	N515D	probably benign	Het
Atl3	A	C	19: 7,511,334 (GRCm39)	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,339,005 (GRCm39)	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,081,813 (GRCm39)	I134K	probably damaging	Het
Brd10	T	A	19: 29,696,945 (GRCm39)	E849D	probably benign	Het
Chmp6	T	C	11: 119,806,866 (GRCm39)	F7L	probably damaging	Het
Colq	C	A	14: 31,247,991 (GRCm39)	C409F	probably damaging	Het
Cpox	T	A	16: 58,491,290 (GRCm39)	V167E	probably damaging	Het
Cul3	T	C	1: 80,254,141 (GRCm39)	Y545C	probably benign	Het
Dqx1	C	T	6: 83,041,790 (GRCm39)	A544V	probably benign	Het
Dzip3	A	G	16: 48,801,305 (GRCm39)	I73T	probably benign	Het
Epha3	T	A	16: 63,388,818 (GRCm39)	Y810F	probably damaging	Het
Esp36	A	T	17: 38,727,942 (GRCm39)	I113N	unknown	Het
Fbxw17	T	A	13: 50,586,584 (GRCm39)	W429R	probably damaging	Het
Fcrl2	A	T	3: 87,164,647 (GRCm39)	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,118,975 (GRCm39)	L148H	probably benign	Het
Gpr39	C	A	1: 125,605,696 (GRCm39)	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,935,017 (GRCm39)	E1662G	probably damaging	Het
Hgfac	T	A	5: 35,201,773 (GRCm39)	L302Q	possibly damaging	Het
Itih1	G	A	14: 30,653,266 (GRCm39)	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,524,075 (GRCm39)	I372V	probably benign	Het
Kcnk1	T	A	8: 126,756,466 (GRCm39)	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,981 (GRCm39)	I115F	probably damaging	Het
Kif1a	C	T	1: 92,974,551 (GRCm39)		probably benign	Het
Lcn2	T	A	2: 32,277,608 (GRCm39)	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,166,355 (GRCm39)	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,909,312 (GRCm39)	I55V	probably benign	Het
Mapk9	T	C	11: 49,757,874 (GRCm39)		probably null	Het
Mrpl18	A	G	17: 13,132,668 (GRCm39)	S154P	possibly damaging	Het
Mst1	C	A	9: 107,961,263 (GRCm39)	H524Q	probably benign	Het
Mtpap	T	C	18: 4,396,202 (GRCm39)	L498P	probably damaging	Het
Myl3	C	T	9: 110,571,105 (GRCm39)		probably benign	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Mzf1	G	T	7: 12,786,985 (GRCm39)	S28R	probably damaging	Het
Olfm1	T	C	2: 28,112,628 (GRCm39)	S205P	probably damaging	Het
Or52e8	A	T	7: 104,625,224 (GRCm39)		probably null	Het
Prrc2a	G	A	17: 35,376,364 (GRCm39)	P809S	probably damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rbm48	A	T	5: 3,640,625 (GRCm39)	C251*	probably null	Het
Rxfp1	A	T	3: 79,559,576 (GRCm39)	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,183,257 (GRCm39)	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,000,090 (GRCm39)	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc38a4	G	T	15: 96,906,895 (GRCm39)	S281*	probably null	Het
Syne1	A	T	10: 5,296,859 (GRCm39)	S1201T	probably damaging	Het
Tex15	C	A	8: 34,064,758 (GRCm39)	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,764,641 (GRCm39)		probably null	Het

Other mutations in Btbd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Btbd10	APN	7	112,915,763 (GRCm39)	missense	probably damaging	1.00
IGL03223:Btbd10	APN	7	112,931,877 (GRCm39)	missense	probably damaging	1.00
beatitude	UTSW	7	112,927,626 (GRCm39)	missense	possibly damaging	0.92
Decile	UTSW	7	112,931,931 (GRCm39)	missense	probably damaging	1.00
pacifist	UTSW	7	112,921,964 (GRCm39)	missense	probably damaging	1.00
I1329:Btbd10	UTSW	7	112,932,082 (GRCm39)	missense	probably benign	0.00
R0022:Btbd10	UTSW	7	112,924,988 (GRCm39)	nonsense	probably null
R0022:Btbd10	UTSW	7	112,924,988 (GRCm39)	nonsense	probably null
R0136:Btbd10	UTSW	7	112,929,085 (GRCm39)	missense	possibly damaging	0.54
R0299:Btbd10	UTSW	7	112,929,085 (GRCm39)	missense	possibly damaging	0.54
R0599:Btbd10	UTSW	7	112,934,516 (GRCm39)	splice site	probably benign
R0657:Btbd10	UTSW	7	112,929,085 (GRCm39)	missense	possibly damaging	0.54
R1401:Btbd10	UTSW	7	112,946,266 (GRCm39)	missense	probably benign	0.06
R2916:Btbd10	UTSW	7	112,932,031 (GRCm39)	missense	probably benign
R3429:Btbd10	UTSW	7	112,951,016 (GRCm39)	nonsense	probably null
R3430:Btbd10	UTSW	7	112,951,016 (GRCm39)	nonsense	probably null
R4578:Btbd10	UTSW	7	112,921,959 (GRCm39)	missense	possibly damaging	0.93
R4626:Btbd10	UTSW	7	112,927,605 (GRCm39)	missense	probably damaging	0.96
R5067:Btbd10	UTSW	7	112,925,043 (GRCm39)	missense	probably damaging	0.99
R5480:Btbd10	UTSW	7	112,915,914 (GRCm39)	missense	probably damaging	1.00
R5667:Btbd10	UTSW	7	112,931,931 (GRCm39)	missense	probably damaging	1.00
R6468:Btbd10	UTSW	7	112,946,266 (GRCm39)	missense	probably benign	0.06
R6877:Btbd10	UTSW	7	112,921,967 (GRCm39)	missense	probably damaging	1.00
R6952:Btbd10	UTSW	7	112,951,150 (GRCm39)	splice site	probably null
R8175:Btbd10	UTSW	7	112,921,999 (GRCm39)	critical splice acceptor site	probably null
R8725:Btbd10	UTSW	7	112,927,626 (GRCm39)	missense	possibly damaging	0.92
R8727:Btbd10	UTSW	7	112,927,626 (GRCm39)	missense	possibly damaging	0.92
R8837:Btbd10	UTSW	7	112,929,133 (GRCm39)	missense	probably benign	0.44
R8969:Btbd10	UTSW	7	112,925,162 (GRCm39)	missense	probably damaging	1.00
R9012:Btbd10	UTSW	7	112,921,964 (GRCm39)	missense	probably damaging	1.00
R9020:Btbd10	UTSW	7	112,951,057 (GRCm39)	missense	possibly damaging	0.46
R9025:Btbd10	UTSW	7	112,951,031 (GRCm39)	missense	possibly damaging	0.91
X0027:Btbd10	UTSW	7	112,915,905 (GRCm39)	missense	probably damaging	1.00
Z1177:Btbd10	UTSW	7	112,931,896 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- TATGTTCCTGAGGCCATAAACAC -3'
(R):5'- ACTTTCTGTTACCATTTGCGGG -3'

Sequencing Primer
(F):5'- TTCCTGAGGCCATAAACACAAATATG -3'
(R):5'- GTGTGAGCTACTGTACCTCAATCAG -3'

Posted On

2019-05-13