Mutagenetix > Incidental Mutations

Incidental Mutation 'R4396:Btbd7'

325498

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

041129-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

R4396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102785293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1071 (S1071P)

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: S1071P

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

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: S1071P

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

probably benign
Transcript: ENSMUST00000223554
AA Change: S1071P

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

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,595,920	F552L	probably damaging	Het
Actn2	A	G	13: 12,310,879	L70P	probably damaging	Het
Cd200r1	T	A	16: 44,766,054	W16R	probably benign	Het
Cdhr2	A	G	13: 54,715,665	N120D	probably damaging	Het
Col19a1	T	C	1: 24,510,866	T317A	unknown	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dmbt1	T	C	7: 131,116,632	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,300,641	C2S	probably benign	Het
Elp2	T	A	18: 24,609,650	S80T	probably damaging	Het
Fat1	T	A	8: 44,952,346	N711K	probably damaging	Het
Fzd3	A	G	14: 65,235,605	I238T	probably damaging	Het
Galnt7	A	T	8: 57,538,181	F432I	probably damaging	Het
Gemin5	T	A	11: 58,139,549	T817S	probably benign	Het
Gm5414	T	G	15: 101,625,666	E294A	probably damaging	Het
Gm8909	C	A	17: 36,161,969		probably benign	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Kcnj4	C	A	15: 79,484,673	A369S	probably benign	Het
Llgl1	T	C	11: 60,706,008	V145A	probably benign	Het
Mdga1	T	C	17: 29,850,517	D185G	probably damaging	Het
Mettl2	A	G	11: 105,126,778	D38G	probably damaging	Het
Mfsd13a	C	T	19: 46,371,992	R328C	probably damaging	Het
Mpp4	T	C	1: 59,144,802	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,344,225	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,203,938	N871K	possibly damaging	Het
Mylk	C	T	16: 34,912,275	Q642*	probably null	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Olfr1308	A	G	2: 111,960,215	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,646	D875E	probably benign	Het
Piezo1	G	T	8: 122,498,674	T557K	probably damaging	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Plxnb1	T	C	9: 109,100,223	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,508,530	I25F	probably damaging	Het
Rreb1	C	T	13: 37,930,443	Q593*	probably null	Het
Scn8a	A	G	15: 100,972,830	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,740,427	S150A	probably benign	Het
Sec24a	A	G	11: 51,715,164	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,321,998	T546A	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Traf5	A	T	1: 191,997,845	V415E	probably benign	Het
Traip	C	G	9: 107,959,487	T110S	probably benign	Het
Treml2	T	C	17: 48,308,114	V209A	probably benign	Het
Trpv5	T	C	6: 41,657,896	S500G	probably benign	Het
Usp32	G	A	11: 85,053,975	L296F	probably benign	Het
Vmn2r79	A	G	7: 87,001,891	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,825,449	D207G	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
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
R5276:Btbd7	UTSW	12	102838392	missense	probably benign	0.00
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'- CAGACTCGGAAGCTACTTCAG -3'
(R):5'- AAGACCCTAGGAGAGAGTACCC -3'

Sequencing Primer
(F):5'- TCGGAAGCTACTTCAGAGGGC -3'
(R):5'- TAGGAGAGAGTACCCACCGTCTC -3'

Posted On

2015-07-06