Mutagenetix > Incidental Mutations

Incidental Mutation 'R9216:Btbd7'

699210

Institutional Source

Beutler Lab

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: 0.429) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 102795304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 541 (L541V)

Ref Sequence

ENSEMBL: ENSMUSP00000046951 (fasta)

Gene Model

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

AlphaFold

Q8CFE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045652
AA Change: L541V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: L541V

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: L541V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430089I19Rik	A	T	5: 94,303,093	N391K	possibly damaging	Het
Akap6	A	T	12: 52,880,885	T193S	probably benign	Het
Anpep	T	C	7: 79,836,301	T558A	possibly damaging	Het
Asap2	A	G	12: 21,213,190	I269V	probably benign	Het
B3galnt2	T	C	13: 13,990,838	V273A	probably benign	Het
Bag3	C	A	7: 128,542,199	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,286,688	P2076S	probably damaging	Het
C6	A	T	15: 4,790,983	D492V	probably damaging	Het
Cdhr5	C	T	7: 141,271,702	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,108,178	L281V	probably benign	Het
D430042O09Rik	T	A	7: 125,872,754	I1531N	probably damaging	Het
Egflam	G	A	15: 7,252,461	T398I	probably benign	Het
Eif4g2	T	G	7: 111,074,208	D788A	probably benign	Het
Elavl4	T	C	4: 110,251,349	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,447,819	D87V	probably damaging	Het
Fsip2	A	T	2: 82,990,081	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,459,535	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338	R47G	probably damaging	Het
Itpkc	A	T	7: 27,228,004	C162S	probably benign	Het
Kremen2	C	T	17: 23,743,807	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,965,052	Q480L	probably benign	Het
Lyst	T	C	13: 13,648,603	C1387R	probably benign	Het
Nmi	A	G	2: 51,955,991	V93A	probably damaging	Het
Ntn1	T	C	11: 68,226,571	K484R	possibly damaging	Het
Olfr809	A	T	10: 129,775,927	R4S	probably benign	Het
Olig1	T	C	16: 91,270,027	S51P	probably benign	Het
Pah	G	T	10: 87,522,026	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Prox1	C	A	1: 190,160,708	E513D	possibly damaging	Het
Psd3	T	C	8: 68,120,887	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,272,798	S505G	probably benign	Het
Ryr1	A	T	7: 29,101,852	L829H	probably damaging	Het
Sec16a	A	T	2: 26,414,389	D852E		Het
Senp2	T	C	16: 22,028,594		probably null	Het
Sf3b1	A	G	1: 55,012,217	V184A	probably benign	Het
Skint5	T	C	4: 113,535,758	T1226A	unknown	Het
Slc1a6	G	A	10: 78,801,858	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,528,660	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,525	Y932C	probably damaging	Het
Spidr	T	A	16: 16,118,950	N97I	probably benign	Het
Ttn	A	G	2: 76,918,160	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,401,444	S138P	probably damaging	Het
Ubr2	C	T	17: 46,981,359	A393T	probably benign	Het
Utrn	G	T	10: 12,813,485	P19T	probably benign	Het
Vcl	T	G	14: 20,983,447	L157W	probably damaging	Het
Vmn1r184	A	T	7: 26,267,278	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,900,272	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,221,246	S154T	probably benign	Het
Wbp2	T	C	11: 116,083,898	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,385,623	D142E	unknown	Het
Zmym6	T	C	4: 127,108,707	V577A	probably benign	Het
Zxdc	C	A	6: 90,382,207	T607K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAAATCTCTGTGCGTATGGTTG -3'
(R):5'- ATGGTGCATATTGTTCACTGC -3'

Sequencing Primer
(F):5'- GGTTGGTAATAAAGTCATCTGCTACC -3'
(R):5'- GTGCATATTGTTCACTGCTACTGGAC -3'

Posted On

2022-02-07