Mutagenetix > Incidental Mutation

Incidental Mutation 'R8727:Btbd10'

662503

Institutional Source

Beutler Lab

Gene Symbol

Btbd10

Ensembl Gene

ENSMUSG00000038187

Gene Name

BTB domain containing 10

Synonyms

Gmrp1, 1110056N09Rik

MMRRC Submission

068575-MU

Accession Numbers

Essential gene?

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

Stock #

R8727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112914833-112968599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112927626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 243 (I243T)

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: I243T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: I243T

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

possibly damaging
Transcript: ENSMUST00000117577
AA Change: I251T

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: I251T

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

possibly damaging
Transcript: ENSMUST00000119278
AA Change: I195T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: I195T

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

Meta Mutation Damage Score

0.4728

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.2%

Validation Efficiency

100% (80/80)

Allele List at MGI

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

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adam30	C	T	3: 98,070,348 (GRCm39)	T727M	possibly damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fbxl5	A	T	5: 43,908,362 (GRCm39)		probably benign	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Igf2bp3	G	T	6: 49,086,009 (GRCm39)		probably benign	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Mindy4	T	A	6: 55,256,055 (GRCm39)		probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pcdhb20	C	T	18: 37,638,437 (GRCm39)	A321V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Piezo2	C	T	18: 63,242,956 (GRCm39)	S621N	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Ptprk	C	A	10: 28,442,541 (GRCm39)		probably benign	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tex11	C	T	X: 100,059,191 (GRCm39)	V190I	possibly damaging	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
U2af2	T	A	7: 5,070,432 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	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
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'- CCAGGACGCTTTATAATTGAACTAA -3'
(R):5'- TGTTAGGTAAACTGAGGTCCCA -3'

Sequencing Primer
(F):5'- CCTCATACTTACTGAGATCTCTA -3'
(R):5'- CTCAGTCAGCTATTGGATGGATCAC -3'

Posted On

2021-03-08