Mutagenetix > Incidental Mutation

Incidental Mutation 'R1262:Btbd7'

151628

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB domain containing 7

Synonyms

5730507E09Rik, FUP1, E130118E17Rik

MMRRC Submission

039329-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.496) question?

Stock #

R1262 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102747056-102844730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102754210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 852 (I852T)

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: I852T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: I852T

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: I852T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
BC048679	A	G	7: 81,145,089 (GRCm39)	F85L	probably benign	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,614,836 (GRCm39)	T281M	probably benign	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Or51b6b	G	A	7: 103,309,648 (GRCm39)	P270S	probably benign	Het
Or52h1	A	G	7: 103,828,623 (GRCm39)		probably null	Het
Snx25	T	A	8: 46,558,328 (GRCm39)	R80S	probably damaging	Het
Syt6	A	T	3: 103,492,656 (GRCm39)		probably null	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,648,364 (GRCm39)	T521I	probably benign	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102,760,038 (GRCm39)	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102,803,921 (GRCm39)	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102,774,239 (GRCm39)	nonsense	probably null
H8562:Btbd7	UTSW	12	102,754,561 (GRCm39)	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102,779,065 (GRCm39)	missense	probably benign	0.03
R1423:Btbd7	UTSW	12	102,751,734 (GRCm39)	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102,754,349 (GRCm39)	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102,760,110 (GRCm39)	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102,757,034 (GRCm39)	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102,778,913 (GRCm39)	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102,760,055 (GRCm39)	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102,756,968 (GRCm39)	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102,752,156 (GRCm39)	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102,761,451 (GRCm39)	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102,804,411 (GRCm39)	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102,751,552 (GRCm39)	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102,760,003 (GRCm39)	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102,774,307 (GRCm39)	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102,804,046 (GRCm39)	nonsense	probably null
R5054:Btbd7	UTSW	12	102,804,471 (GRCm39)	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102,804,651 (GRCm39)	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102,804,044 (GRCm39)	missense	probably damaging	0.99
R5665:Btbd7	UTSW	12	102,751,456 (GRCm39)	missense	probably benign
R7083:Btbd7	UTSW	12	102,754,594 (GRCm39)	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102,804,464 (GRCm39)	missense	probably benign	0.05
R7429:Btbd7	UTSW	12	102,804,039 (GRCm39)	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102,803,981 (GRCm39)	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102,779,027 (GRCm39)	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102,761,499 (GRCm39)	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102,754,631 (GRCm39)	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102,804,241 (GRCm39)	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102,754,501 (GRCm39)	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102,779,025 (GRCm39)	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102,751,417 (GRCm39)	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102,804,838 (GRCm39)	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102,761,563 (GRCm39)	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102,777,430 (GRCm39)	missense	probably damaging	1.00
R9471:Btbd7	UTSW	12	102,760,145 (GRCm39)	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102,778,945 (GRCm39)	nonsense	probably null
X0025:Btbd7	UTSW	12	102,777,423 (GRCm39)	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102,777,379 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGAGAAGCTCCCAGCTAGTCAG -3'
(R):5'- GAGATGTCGTGTCAACAGTACCCC -3'

Sequencing Primer
(F):5'- CCAGCTAGTCAGTAACACTTCTG -3'
(R):5'- GAAACCATGTTTACAGACCTGG -3'

Posted On

2014-01-29