Mutagenetix > Incidental Mutations

Incidental Mutation 'R1641:Btbd7'

173552

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

039677-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1641 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102790775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 684 (V684A)

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: V684A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: V684A

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 damaging
Transcript: ENSMUST00000223554
AA Change: V684A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,228,959	T2230A	probably benign	Het
Aasdh	T	A	5: 76,891,779	T228S	probably benign	Het
Adamts2	C	T	11: 50,792,785	P965S	probably damaging	Het
Ankrd11	A	G	8: 122,891,746	I1768T	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Baz2b	A	T	2: 59,912,890	L1579Q	probably damaging	Het
Camk1g	T	A	1: 193,356,357	I86F	probably benign	Het
Capn13	A	T	17: 73,382,894	S41T	possibly damaging	Het
Cep192	C	A	18: 67,847,433	L1422I	probably damaging	Het
Chaf1a	T	C	17: 56,047,380	F217L	unknown	Het
Clca3b	A	T	3: 144,823,513	M800K	possibly damaging	Het
Crocc	A	G	4: 141,017,077	V1836A	probably benign	Het
Csmd2	G	A	4: 128,483,395	V2023M	possibly damaging	Het
Cul9	A	G	17: 46,543,560	V72A	possibly damaging	Het
Ddx52	T	C	11: 83,943,443		probably null	Het
Dennd5b	A	C	6: 149,068,205	V250G	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Gtpbp4	A	T	13: 8,973,249	M593K	probably benign	Het
Il21	A	G	3: 37,232,532	F12L	probably benign	Het
Lrit2	T	A	14: 37,069,148	N261K	probably benign	Het
Lrrc39	G	T	3: 116,570,913	C151F	probably damaging	Het
Lsm14a	C	A	7: 34,351,374	R426L	probably damaging	Het
Maml1	G	A	11: 50,266,947	P134S	probably benign	Het
Map3k13	T	C	16: 21,903,792	C235R	probably damaging	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Nsmaf	T	C	4: 6,409,884	E663G	probably benign	Het
Ntrk3	T	C	7: 78,356,074	N513S	probably damaging	Het
Nufip1	T	G	14: 76,126,252	N305K	possibly damaging	Het
Olfr121	C	T	17: 37,752,025	T57I	possibly damaging	Het
Olfr1257	A	T	2: 89,881,401	T192S	probably benign	Het
Olfr575	T	A	7: 102,954,968	D218V	probably benign	Het
Olfr694	T	A	7: 106,689,711	T7S	probably benign	Het
Olfr823	A	T	10: 130,112,003	Y262*	probably null	Het
Pi4ka	A	G	16: 17,377,030	V168A	probably benign	Het
Prex2	T	C	1: 11,231,772	V1433A	probably damaging	Het
Prl7a1	A	T	13: 27,633,629	D217E	probably damaging	Het
Prr3	G	A	17: 35,974,592	R86*	probably null	Het
Ptprz1	T	C	6: 23,049,606	F1350L	probably damaging	Het
R3hcc1l	T	C	19: 42,563,607	S348P	possibly damaging	Het
Rag2	A	T	2: 101,629,615	Q90L	probably benign	Het
Scel	T	C	14: 103,533,316	L62P	probably damaging	Het
Serpini1	A	T	3: 75,614,670	E156V	possibly damaging	Het
Skint4	T	A	4: 112,136,043	I321K	possibly damaging	Het
Slc28a2	A	G	2: 122,455,617	D478G	probably damaging	Het
Sppl2b	G	T	10: 80,865,131	V164F	probably damaging	Het
Traf5	T	A	1: 191,997,509	N527I	probably benign	Het
Ttc3	T	A	16: 94,443,317	D17E	probably benign	Het
Txlnb	G	A	10: 17,806,773	A148T	possibly damaging	Het
Ubtf	A	G	11: 102,310,931	Y256H	probably damaging	Het
Usp25	T	C	16: 77,071,671	F320S	possibly damaging	Het
Utp14b	T	C	1: 78,665,939	V518A	probably benign	Het
Utp20	A	G	10: 88,757,972	V2192A	possibly damaging	Het
Vmn1r173	T	A	7: 23,703,108	M256K	probably benign	Het
Vmn2r114	T	A	17: 23,296,988	M510L	probably benign	Het
Xdh	T	A	17: 73,926,552	Q189L	probably benign	Het
Zfat	C	T	15: 68,180,110	A605T	probably benign	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
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
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'- CTGCCTGTTAGATGCTCGATACACC -3'
(R):5'- TACGTAGCTCAGGAATTGTCCTGCC -3'

Sequencing Primer
(F):5'- agatgttcagcgagggtaag -3'
(R):5'- AGGAATTGTCCTGCCTTTCTC -3'

Posted On

2014-04-24