Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Btbd10'

686665

Institutional Source

Beutler Lab

Gene Symbol

Btbd10

Ensembl Gene

ENSMUSG00000038187

Gene Name

BTB domain containing 10

Synonyms

Gmrp1, 1110056N09Rik

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

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

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112914833-112968599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112951057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 11 (N11S)

Ref Sequence

ENSEMBL: ENSMUSP00000048530 (fasta)

Gene Model

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

AlphaFold

Q80X66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047091
AA Change: N11S

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: N11S

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 benign
Transcript: ENSMUST00000117577

SMART Domains

Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187

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 benign
Transcript: ENSMUST00000119278

SMART Domains

Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187

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

possibly damaging
Transcript: ENSMUST00000135510
AA Change: N11S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114806
Gene: ENSMUSG00000038187
AA Change: N11S

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

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

Validation Efficiency

97% (58/60)

Allele List at MGI

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

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Adrb3	A	T	8: 27,717,947 (GRCm39)	F167L	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Cfap65	T	C	1: 74,959,552 (GRCm39)	E866G	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Jade2	T	A	11: 51,708,454 (GRCm39)	Q572L	probably benign	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nle1	C	G	11: 82,797,275 (GRCm39)	E146Q	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Steap2	T	C	5: 5,723,480 (GRCm39)	S467G	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	probably benign	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
R7059:Btbd10	UTSW	7	112,929,129 (GRCm39)	missense	probably damaging	0.97
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
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'- TAAATGAGGCCACATCCCG -3'
(R):5'- ACCTCTACTGGTATATCAGGTGC -3'

Sequencing Primer
(F):5'- AGGCCACATCCCGACAGG -3'
(R):5'- CTACTGGTATATCAGGTGCAAAGTAC -3'

Posted On

2021-11-19