Mutagenetix > Incidental Mutations

Incidental Mutation 'R5276:Btbd7'

403965

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

042863-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102838392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 130 (K130E)

Ref Sequence

ENSEMBL: ENSMUSP00000152426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045652] [ENSMUST00000223554]

AlphaFold

Q8CFE5

Predicted Effect

probably benign
Transcript: ENSMUST00000045652
AA Change: K130E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: K130E

Domain	Start	End	E-Value	Type
BTB	142	244	1.57e-13	SMART
BTB	247	397	2.23e-4	SMART
BACK	402	538	1.49e-4	SMART
low complexity region	626	640	N/A	INTRINSIC
low complexity region	756	771	N/A	INTRINSIC
low complexity region	783	792	N/A	INTRINSIC
low complexity region	808	822	N/A	INTRINSIC
low complexity region	839	850	N/A	INTRINSIC
low complexity region	1076	1088	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221925

Predicted Effect

probably benign
Transcript: ENSMUST00000223554
AA Change: K130E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 43,570,420	F11S	probably benign	Het
Adipor2	T	A	6: 119,357,221	I343F	probably damaging	Het
Ahdc1	C	T	4: 133,062,798	P450L	possibly damaging	Het
Akna	A	C	4: 63,368,203	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,962,614	T390I	probably benign	Het
Cdc42bpa	A	G	1: 180,137,850	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,557,635		probably benign	Het
Ddx59	A	T	1: 136,419,448	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,283,771	T216P	probably benign	Het
Dsg4	A	T	18: 20,446,839	I34F	probably benign	Het
Enpp3	A	G	10: 24,809,916	S194P	probably damaging	Het
Entpd8	C	T	2: 25,085,045	R463W	probably benign	Het
Fam169a	A	G	13: 97,118,496	T407A	probably benign	Het
Fam98b	G	T	2: 117,259,298	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,196,428	K405*	probably null	Het
Gm340	T	A	19: 41,585,039	H744Q	probably damaging	Het
Gsdmc	T	C	15: 63,801,957	T160A	probably benign	Het
Hdac1	T	C	4: 129,528,923		probably null	Het
Igfbp1	A	C	11: 7,201,892	T232P	probably damaging	Het
Mertk	G	C	2: 128,801,314	G878R	possibly damaging	Het
Metap2	G	T	10: 93,868,922	P281H	possibly damaging	Het
Metap2	T	A	10: 93,868,932	T278S	probably benign	Het
Mfn1	T	C	3: 32,564,205	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774	D751G	probably damaging	Het
Mpl	A	G	4: 118,455,721	V138A	probably benign	Het
Myef2	T	A	2: 125,095,721	K533N	probably damaging	Het
Mylk3	C	T	8: 85,355,442	G309E	probably damaging	Het
Nid1	T	C	13: 13,468,572	V365A	probably damaging	Het
Olfr27	T	C	9: 39,144,315	C72R	probably damaging	Het
Olfr463	A	T	11: 87,893,192	I244N	probably damaging	Het
Olfr480	A	T	7: 108,066,216	L164*	probably null	Het
Olfr77	C	A	9: 19,920,621	N137K	possibly damaging	Het
Pbrm1	A	G	14: 31,106,184	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,766,675	D187N	possibly damaging	Het
Phrf1	T	C	7: 141,259,283		probably benign	Het
Phtf2	A	G	5: 20,772,197	V608A	probably benign	Het
Plec	G	A	15: 76,173,438	R4122W	probably damaging	Het
Polm	A	G	11: 5,829,393	S441P	probably benign	Het
Prrc2b	T	A	2: 32,214,722	V1404E	probably benign	Het
Ptger1	T	G	8: 83,669,345	S344A	possibly damaging	Het
Rasef	A	T	4: 73,735,767	D401E	probably null	Het
Rbfox3	T	C	11: 118,496,352	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,584,759	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,319,666	A82T	probably benign	Het
Rnf123	AT	ATT	9: 108,064,003		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sidt2	T	A	9: 45,954,777	N44Y	probably damaging	Het
Slf2	T	A	19: 44,935,161	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,896,583		probably null	Het
Sspo	C	T	6: 48,490,467	P4188S	probably damaging	Het
Synm	C	T	7: 67,734,689	S1075N	probably benign	Het
Tacc2	G	T	7: 130,729,317	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,151,818	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,417,013	N91S	possibly damaging	Het
Trim63	G	A	4: 134,323,133	E243K	probably benign	Het
Trim72	T	G	7: 128,004,542	L20R	probably damaging	Het
Tubb1	A	G	2: 174,457,424	M300V	probably damaging	Het
Ubfd1	C	T	7: 122,068,868	A207V	probably damaging	Het
Usp16	T	A	16: 87,470,451		probably null	Het
Vmn2r23	A	G	6: 123,712,977	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,738,254	I701F	possibly damaging	Het
Wdfy4	A	G	14: 33,047,275	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,017,450		probably null	Het
Zfp955b	A	G	17: 33,303,057	Y500C	probably damaging	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102793779	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102837662	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102807980	nonsense	probably null
H8562:Btbd7	UTSW	12	102788302	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102812806	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102787951	missense	probably benign
R1423:Btbd7	UTSW	12	102785475	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102788090	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102793851	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102790775	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102812654	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102793796	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102790709	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102785897	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102795192	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102838152	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102785293	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102793744	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102808048	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102837787	nonsense	probably null
R5054:Btbd7	UTSW	12	102838212	missense	probably benign	0.02
R5387:Btbd7	UTSW	12	102837785	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102785197	missense	probably benign
R7083:Btbd7	UTSW	12	102788335	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102838205	missense	probably benign	0.05
R7429:Btbd7	UTSW	12	102837780	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102837722	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102812768	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102795240	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102788372	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102837982	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102788242	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102812766	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102785158	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102838579	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102795304	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102811171	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102812686	nonsense	probably null
X0025:Btbd7	UTSW	12	102811164	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102811120	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATATCAATACCAGCTGTACTG -3'
(R):5'- AAAGAGAACCTCTGGCCTTGC -3'

Sequencing Primer
(F):5'- GTACTGATGTCCATTATTATCTCTGC -3'
(R):5'- GCCTTGCCACTCTCAAAAAG -3'

Posted On

2016-07-22