Mutagenetix > Incidental Mutation

Incidental Mutation 'R5665:Btbd7'

444365

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

043308-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R5665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102785197 bp (GRCm38)

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: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294 (GRCm38)	E492*	probably null	Het
Acp7	T	A	7: 28,616,543 (GRCm38)	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503 (GRCm38)	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047 (GRCm38)	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565 (GRCm38)	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900 (GRCm38)	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038 (GRCm38)	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453 (GRCm38)	S44P	probably damaging	Het
Capn10	T	A	1: 92,937,931 (GRCm38)		probably null	Het
Capn7	T	C	14: 31,369,802 (GRCm38)	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982 (GRCm38)	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290 (GRCm38)	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110 (GRCm38)	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561 (GRCm38)	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880 (GRCm38)	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554 (GRCm38)	F278S	probably damaging	Het
Dhx16	C	T	17: 35,891,086 (GRCm38)	Q1002*	probably null	Het
Dppa4	T	C	16: 48,291,015 (GRCm38)	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092 (GRCm38)	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589 (GRCm38)	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635 (GRCm38)	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402 (GRCm38)	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024 (GRCm38)	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784 (GRCm38)	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308 (GRCm38)	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911 (GRCm38)	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796 (GRCm38)	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435 (GRCm38)	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102 (GRCm38)	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849 (GRCm38)	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909 (GRCm38)	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987 (GRCm38)	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814 (GRCm38)	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997 (GRCm38)	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782 (GRCm38)	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921 (GRCm38)	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181 (GRCm38)		probably null	Het
Myrip	A	G	9: 120,461,433 (GRCm38)	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485 (GRCm38)	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544 (GRCm38)		probably null	Het
Olfr1113	T	A	2: 87,213,728 (GRCm38)	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375 (GRCm38)	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788 (GRCm38)	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811 (GRCm38)	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,588,531 (GRCm38)	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586 (GRCm38)	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722 (GRCm38)	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081 (GRCm38)		probably null	Het
Pygb	T	C	2: 150,820,888 (GRCm38)		probably null	Het
Rnf114	T	C	2: 167,510,934 (GRCm38)	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453 (GRCm38)	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632 (GRCm38)	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545 (GRCm38)	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403 (GRCm38)	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457 (GRCm38)	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139 (GRCm38)	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408 (GRCm38)	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005 (GRCm38)	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477 (GRCm38)	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314 (GRCm38)	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147 (GRCm38)	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217 (GRCm38)		probably null	Het
Uso1	A	T	5: 92,198,337 (GRCm38)	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987 (GRCm38)	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166 (GRCm38)	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979 (GRCm38)	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690 (GRCm38)	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192 (GRCm38)	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883 (GRCm38)	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102 (GRCm38)	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513 (GRCm38)	D151G	probably null	Het

Other mutations in Btbd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02047:Btbd7	APN	12	102,793,779 (GRCm38)	missense	probably benign	0.10
IGL02899:Btbd7	APN	12	102,837,662 (GRCm38)	missense	probably damaging	1.00
IGL03204:Btbd7	APN	12	102,807,980 (GRCm38)	nonsense	probably null
H8562:Btbd7	UTSW	12	102,788,302 (GRCm38)	missense	probably benign	0.26
IGL03050:Btbd7	UTSW	12	102,812,806 (GRCm38)	missense	probably benign	0.03
R1262:Btbd7	UTSW	12	102,787,951 (GRCm38)	missense	probably benign
R1423:Btbd7	UTSW	12	102,785,475 (GRCm38)	missense	possibly damaging	0.49
R1437:Btbd7	UTSW	12	102,788,090 (GRCm38)	missense	possibly damaging	0.59
R1636:Btbd7	UTSW	12	102,793,851 (GRCm38)	missense	probably damaging	1.00
R1641:Btbd7	UTSW	12	102,790,775 (GRCm38)	missense	probably damaging	1.00
R1722:Btbd7	UTSW	12	102,812,654 (GRCm38)	missense	possibly damaging	0.96
R1921:Btbd7	UTSW	12	102,793,796 (GRCm38)	missense	probably benign	0.01
R2021:Btbd7	UTSW	12	102,790,709 (GRCm38)	missense	probably damaging	1.00
R2180:Btbd7	UTSW	12	102,785,897 (GRCm38)	missense	probably damaging	1.00
R3768:Btbd7	UTSW	12	102,795,192 (GRCm38)	missense	probably damaging	1.00
R3770:Btbd7	UTSW	12	102,795,192 (GRCm38)	missense	probably damaging	1.00
R3786:Btbd7	UTSW	12	102,838,152 (GRCm38)	missense	probably benign	0.22
R4396:Btbd7	UTSW	12	102,785,293 (GRCm38)	missense	probably benign	0.00
R4809:Btbd7	UTSW	12	102,793,744 (GRCm38)	critical splice donor site	probably null
R4910:Btbd7	UTSW	12	102,808,048 (GRCm38)	missense	probably damaging	0.98
R4915:Btbd7	UTSW	12	102,837,787 (GRCm38)	nonsense	probably null
R5054:Btbd7	UTSW	12	102,838,212 (GRCm38)	missense	probably benign	0.02
R5276:Btbd7	UTSW	12	102,838,392 (GRCm38)	missense	probably benign	0.00
R5387:Btbd7	UTSW	12	102,837,785 (GRCm38)	missense	probably damaging	0.99
R7083:Btbd7	UTSW	12	102,788,335 (GRCm38)	missense	probably damaging	0.99
R7354:Btbd7	UTSW	12	102,838,205 (GRCm38)	missense	probably benign	0.05
R7429:Btbd7	UTSW	12	102,837,780 (GRCm38)	missense	probably damaging	1.00
R7462:Btbd7	UTSW	12	102,837,722 (GRCm38)	missense	possibly damaging	0.88
R7469:Btbd7	UTSW	12	102,812,768 (GRCm38)	missense	probably damaging	0.99
R7998:Btbd7	UTSW	12	102,795,240 (GRCm38)	missense	probably damaging	1.00
R8499:Btbd7	UTSW	12	102,788,372 (GRCm38)	missense	probably damaging	1.00
R8773:Btbd7	UTSW	12	102,837,982 (GRCm38)	missense	probably benign	0.02
R8783:Btbd7	UTSW	12	102,788,242 (GRCm38)	missense	probably benign	0.45
R8968:Btbd7	UTSW	12	102,812,766 (GRCm38)	missense	probably damaging	1.00
R9016:Btbd7	UTSW	12	102,785,158 (GRCm38)	missense	probably damaging	1.00
R9027:Btbd7	UTSW	12	102,838,579 (GRCm38)	missense	probably damaging	1.00
R9216:Btbd7	UTSW	12	102,795,304 (GRCm38)	missense	probably damaging	1.00
R9221:Btbd7	UTSW	12	102,811,171 (GRCm38)	missense	probably damaging	1.00
R9471:Btbd7	UTSW	12	102,793,886 (GRCm38)	missense	probably damaging	1.00
X0024:Btbd7	UTSW	12	102,812,686 (GRCm38)	nonsense	probably null
X0025:Btbd7	UTSW	12	102,811,164 (GRCm38)	missense	probably benign	0.06
Z1177:Btbd7	UTSW	12	102,811,120 (GRCm38)	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