Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Btbd7'

444365

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB domain containing 7

Synonyms

5730507E09Rik, FUP1, E130118E17Rik

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102747056-102844730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102751456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1103 (A1103S)

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: A1103S

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

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: A1103S

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: A1103S

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acaca	G	T	11: 84,136,120 (GRCm39)	E492*	probably null	Het
Acp7	T	A	7: 28,315,968 (GRCm39)	K206M	probably benign	Het
Agbl1	T	A	7: 76,239,251 (GRCm39)	F584I	probably damaging	Het
Ahi1	A	G	10: 20,930,946 (GRCm39)	I929V	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,238,357 (GRCm39)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,130,371 (GRCm39)	T173P	probably damaging	Het
Asap1	A	G	15: 64,184,302 (GRCm39)	S44P	probably damaging	Het
Capn10	T	A	1: 92,865,653 (GRCm39)		probably null	Het
Capn7	T	C	14: 31,091,759 (GRCm39)	F719L	probably benign	Het
Casp7	G	A	19: 56,429,414 (GRCm39)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,643,356 (GRCm39)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,753,178 (GRCm39)	F13L	probably benign	Het
Clcn6	T	A	4: 148,099,018 (GRCm39)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,755,602 (GRCm39)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,038,755 (GRCm39)	F278S	probably damaging	Het
Dhx16	C	T	17: 36,201,978 (GRCm39)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,111,378 (GRCm39)	L121P	probably benign	Het
Dpyd	A	G	3: 118,710,741 (GRCm39)	E383G	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Elovl1	G	T	4: 118,288,832 (GRCm39)	V174L	probably damaging	Het
Elp3	T	C	14: 65,788,851 (GRCm39)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,574,985 (GRCm39)	W7L	probably damaging	Het
Fchsd2	A	G	7: 100,759,991 (GRCm39)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,504,308 (GRCm39)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,263,387 (GRCm39)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Herc1	A	G	9: 66,372,717 (GRCm39)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,492,610 (GRCm39)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,812,145 (GRCm39)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,791,921 (GRCm39)	Q590*	probably null	Het
Lama1	G	T	17: 68,077,982 (GRCm39)	C1139F	probably damaging	Het
Med29	C	T	7: 28,086,239 (GRCm39)	A190T	probably benign	Het
Muc4	T	C	16: 32,569,600 (GRCm39)	V220A	probably benign	Het
Mxra8	G	T	4: 155,927,378 (GRCm39)	V388L	probably benign	Het
Myo5a	T	C	9: 75,051,463 (GRCm39)		probably null	Het
Myrip	A	G	9: 120,290,499 (GRCm39)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,590,942 (GRCm39)	V313A	probably benign	Het
Oga	A	C	19: 45,765,436 (GRCm39)	S124A	probably benign	Het
Olfm2	T	G	9: 20,579,840 (GRCm39)		probably null	Het
Or10ag52	T	A	2: 87,044,072 (GRCm39)	S279T	probably benign	Het
Or10x4	T	C	1: 174,218,941 (GRCm39)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,462,620 (GRCm39)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,841,443 (GRCm39)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,219,595 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,658,755 (GRCm39)	T159S	probably damaging	Het
Plk4	A	G	3: 40,768,021 (GRCm39)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,192,657 (GRCm39)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,343,064 (GRCm39)		probably null	Het
Pygb	T	C	2: 150,662,808 (GRCm39)		probably null	Het
Rnf114	T	C	2: 167,352,854 (GRCm39)	I118T	possibly damaging	Het
Sbno2	A	G	10: 79,894,287 (GRCm39)	L1099P	probably benign	Het
Scaper	T	C	9: 55,714,916 (GRCm39)	K791E	probably damaging	Het
Serping1	T	C	2: 84,601,889 (GRCm39)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,319,665 (GRCm39)	S617P	possibly damaging	Het
Slk	G	A	19: 47,624,896 (GRCm39)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,655,535 (GRCm39)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,364,407 (GRCm39)	P39T	probably benign	Het
Spred1	C	T	2: 116,983,486 (GRCm39)	R16*	probably null	Het
Srpk2	A	G	5: 23,723,475 (GRCm39)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,670,610 (GRCm39)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,095,215 (GRCm39)	L272H	probably damaging	Het
Syne2	T	A	12: 76,154,991 (GRCm39)		probably null	Het
Uso1	A	T	5: 92,346,196 (GRCm39)	E793V	possibly damaging	Het
Usp15	A	T	10: 122,966,892 (GRCm39)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,286,336 (GRCm39)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,763,938 (GRCm39)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,330,252 (GRCm39)	S537P	probably damaging	Het
Zbtb12	T	C	17: 35,114,859 (GRCm39)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,260,915 (GRCm39)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,512 (GRCm39)	D151G	probably null	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
R1262:Btbd7	UTSW	12	102,754,210 (GRCm39)	missense	probably benign
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
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'- ACCCTCTTAGCATGCCATG -3'
(R):5'- AATGCTAGTCATGGTCCAGCC -3'

Sequencing Primer
(F):5'- GAACTGAGCTGGCGTCGATAAAC -3'
(R):5'- ATGGTCCAGCCCATGTCAG -3'

Posted On

2016-11-09