Mutagenetix > Incidental Mutation

Incidental Mutation 'R4578:Btbd10'

343416

Institutional Source

Beutler Lab

Gene Symbol

Btbd10

Ensembl Gene

ENSMUSG00000038187

Gene Name

BTB domain containing 10

Synonyms

Gmrp1, 1110056N09Rik

MMRRC Submission

041800-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R4578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112914833-112968599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112921959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 301 (I301L)

Ref Sequence

ENSEMBL: ENSMUSP00000113632 (fasta)

Gene Model

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

AlphaFold

Q80X66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047091
AA Change: I349L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048530
Gene: ENSMUSG00000038187
AA Change: I349L

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: I357L

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113496
Gene: ENSMUSG00000038187
AA Change: I357L

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

noncoding transcript
Transcript: ENSMUST00000118029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119278
AA Change: I301L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113632
Gene: ENSMUSG00000038187
AA Change: I301L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139650

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,537 (GRCm39)	Y440*	probably null	Het
Aldh3b3	A	T	19: 4,014,832 (GRCm39)	T110S	probably benign	Het
Atp2b2	T	C	6: 113,737,672 (GRCm39)	T901A	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bfar	A	T	16: 13,505,307 (GRCm39)	I106F	probably benign	Het
Card14	G	A	11: 119,217,567 (GRCm39)	R400H	probably benign	Het
Ccdc80	A	G	16: 44,915,849 (GRCm39)	R202G	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cmtm7	A	C	9: 114,592,351 (GRCm39)	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613 (GRCm39)	W474R	probably damaging	Het
Coq9	T	C	8: 95,580,234 (GRCm39)	V285A	probably benign	Het
Cp	A	G	3: 20,028,052 (GRCm39)	E486G	probably damaging	Het
Crybg3	C	T	16: 59,350,564 (GRCm39)	C892Y	probably damaging	Het
Cttn	A	T	7: 144,008,453 (GRCm39)	F176L	probably damaging	Het
Cytip	T	A	2: 58,050,024 (GRCm39)	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,477,492 (GRCm39)	E634G	possibly damaging	Het
Duox1	A	G	2: 122,164,258 (GRCm39)	E906G	probably benign	Het
Efcab6	A	T	15: 83,817,369 (GRCm39)	S735T	probably benign	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Ercc5	T	A	1: 44,187,308 (GRCm39)	V29E	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,425,092 (GRCm39)	E524D	probably benign	Het
Gfod2	T	C	8: 106,454,878 (GRCm39)	M1V	probably null	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Gsta4	A	T	9: 78,113,302 (GRCm39)	R127S	probably benign	Het
Hcn2	G	A	10: 79,560,282 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,798,715 (GRCm39)	V2135A	probably damaging	Het
Hoxc6	A	G	15: 102,918,093 (GRCm39)	D19G	probably benign	Het
Hydin	A	T	8: 110,993,971 (GRCm39)	T2S	unknown	Het
Ifna14	A	T	4: 88,489,747 (GRCm39)	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,838,183 (GRCm39)	L14P	unknown	Het
Il17rb	A	G	14: 29,724,356 (GRCm39)	V166A	probably damaging	Het
Iqca1	T	A	1: 90,001,472 (GRCm39)	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,300,994 (GRCm39)	V282L	probably benign	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Lrfn5	A	G	12: 61,890,763 (GRCm39)	D684G	probably benign	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,200,655 (GRCm39)	Y124C	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh2	T	A	11: 67,064,084 (GRCm39)	V48D	possibly damaging	Het
Nat10	A	G	2: 103,584,417 (GRCm39)	M120T	probably damaging	Het
Nf1	T	C	11: 79,336,585 (GRCm39)	S1065P	probably damaging	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Pced1a	A	C	2: 130,264,596 (GRCm39)	L78R	probably damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Pomgnt2	G	A	9: 121,812,131 (GRCm39)	R217C	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050 (GRCm39)	E285G	probably benign	Het
Sclt1	G	A	3: 41,625,900 (GRCm39)	Q356*	probably null	Het
Scn2b	T	C	9: 45,037,460 (GRCm39)	F169S	possibly damaging	Het
Sfta2	C	T	17: 35,960,775 (GRCm39)		probably benign	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Sspo	A	C	6: 48,440,307 (GRCm39)	D1541A	possibly damaging	Het
Strc	G	A	2: 121,208,484 (GRCm39)	L296F	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Taf6l	C	A	19: 8,761,335 (GRCm39)	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,820,841 (GRCm39)	R617L	probably damaging	Het
Tnrc6a	A	G	7: 122,783,444 (GRCm39)	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,067,100 (GRCm39)	L1714P	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565 (GRCm39)	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Vmn2r52	A	T	7: 9,904,617 (GRCm39)	H407Q	probably damaging	Het
Vps13a	A	T	19: 16,659,474 (GRCm39)	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,242,550 (GRCm39)	M380V	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
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
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'- AACTGTTTGAGAGGGCTTCC -3'
(R):5'- CCTGTAGATTGGGTTACCTGAC -3'

Sequencing Primer
(F):5'- GGCTTCCCCACACAAATTATTTAAAC -3'
(R):5'- CTGTACTGAATATTGTCCTGTCATG -3'

Posted On

2015-09-24