Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02899:Btbd7'

363510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.480) question?

Stock #

IGL02899

Quality Score

Status

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102837662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 373 (L373P)

Ref Sequence

ENSEMBL: ENSMUSP00000152426 (fasta)

Gene Model

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

AlphaFold

Q8CFE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045652
AA Change: L373P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: L373P

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 damaging
Transcript: ENSMUST00000223554
AA Change: L373P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	C	A	9: 103,277,574	V173L	probably damaging	Het
Arfgef2	A	G	2: 166,869,051		probably benign	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	A	T	19: 56,793,488	I753N	probably benign	Het
Ccser2	G	A	14: 36,940,759	T156I	probably benign	Het
Celsr1	A	G	15: 86,031,726	M682T	probably damaging	Het
Cep97	C	A	16: 55,918,540	S267I	probably damaging	Het
Dhx35	A	G	2: 158,801,450	Y39C	probably damaging	Het
Dscam	A	T	16: 96,709,247	D937E	probably damaging	Het
Elmod2	A	G	8: 83,316,933	Y202H	probably damaging	Het
Fyco1	T	C	9: 123,830,331	N260S	possibly damaging	Het
Gm5591	A	G	7: 38,519,418	L677P	probably damaging	Het
Gmppa	A	G	1: 75,441,830		probably null	Het
Hltf	C	T	3: 20,099,817	T639I	probably damaging	Het
Kpnb1	T	C	11: 97,175,786	Y321C	probably damaging	Het
Lgr4	G	A	2: 109,918,253	G45R	probably damaging	Het
Ltn1	T	C	16: 87,382,659	D1538G	probably benign	Het
Maf1	T	A	15: 76,353,020		probably benign	Het
Morn5	T	C	2: 36,055,037	F91S	probably damaging	Het
Ncan	C	T	8: 70,115,048	R138H	possibly damaging	Het
Olfr1328	A	T	4: 118,934,662	M62K	probably damaging	Het
Olfr203	G	T	16: 59,303,286	L44F	probably damaging	Het
Parg	T	C	14: 32,238,574	L82S	probably damaging	Het
Ppp2r2b	A	T	18: 42,645,809	H417Q	probably damaging	Het
Rb1cc1	T	C	1: 6,264,583	L98P	probably damaging	Het
Ryr1	C	A	7: 29,048,795	V3752L	possibly damaging	Het
Slc25a12	A	G	2: 71,279,635	L489P	probably damaging	Het
Slc38a8	C	T	8: 119,485,543	V354M	probably benign	Het
Slf2	A	G	19: 44,942,020	E512G	probably benign	Het
Tarbp1	A	G	8: 126,453,844	M597T	probably damaging	Het
Tgfb3	G	A	12: 86,069,776	R163C	probably damaging	Het
Tmco5b	A	G	2: 113,296,920	M279V	probably benign	Het
Ttll9	G	A	2: 153,002,951	G413D	probably damaging	Het
Tut1	A	G	19: 8,962,387	D245G	probably damaging	Het
Usf3	T	A	16: 44,221,226	V2023E	probably damaging	Het
Vps33a	C	T	5: 123,531,176	G554D	probably damaging	Het
Zfp27	C	A	7: 29,896,255	R95M	possibly 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
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
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
R9471:Btbd7	UTSW	12	102793886	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

Posted On

2015-12-18