Mutagenetix > Incidental Mutation

Incidental Mutation 'R9471:Btbd7'

715488

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB domain containing 7

Synonyms

5730507E09Rik, FUP1, E130118E17Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9471 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102747056-102844730 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102760145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 601 (R601Q)

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: R601Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: R601Q

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: R601Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,565,319 (GRCm39)	K368E	probably damaging	Het
Adgrl2	T	C	3: 148,558,365 (GRCm39)	T448A	probably benign	Het
Aff4	C	T	11: 53,271,473 (GRCm39)	P337S	probably benign	Het
Alg12	G	A	15: 88,690,621 (GRCm39)	Q406*	probably null	Het
Anapc5	T	C	5: 122,944,308 (GRCm39)	Y302C	probably damaging	Het
Apol7a	A	G	15: 77,273,680 (GRCm39)	S261P	possibly damaging	Het
Atad5	G	T	11: 80,023,524 (GRCm39)	K1545N	possibly damaging	Het
Atp6v1f	T	A	6: 29,467,941 (GRCm39)	D42E	probably benign	Het
Bcl6	T	A	16: 23,791,857 (GRCm39)	N166Y	probably benign	Het
Casp1	A	G	9: 5,304,187 (GRCm39)	E287G	probably benign	Het
Cd300c	A	T	11: 114,847,216 (GRCm39)	V193E	probably damaging	Het
Cd300lg	T	A	11: 101,944,920 (GRCm39)	S377T	probably benign	Het
Ceacam13	T	A	7: 17,753,012 (GRCm39)	*264R	probably null	Het
Clasrp	G	A	7: 19,319,172 (GRCm39)	R498*	probably null	Het
Clec4n	T	A	6: 123,221,505 (GRCm39)	N146K	probably benign	Het
Cntln	T	A	4: 84,968,019 (GRCm39)	V746E	possibly damaging	Het
Defa29	T	C	8: 21,816,901 (GRCm39)	T31A	possibly damaging	Het
Egr4	A	G	6: 85,489,695 (GRCm39)	S122P	possibly damaging	Het
Fam221a	T	G	6: 49,349,520 (GRCm39)	D28E	probably damaging	Het
Fanca	G	A	8: 124,000,897 (GRCm39)	T1161I	possibly damaging	Het
Fcsk	T	C	8: 111,610,041 (GRCm39)	E991G	probably benign	Het
Frat2	A	G	19: 41,836,113 (GRCm39)	S80P	probably benign	Het
Gse1	C	A	8: 121,301,845 (GRCm39)	S985R	unknown	Het
H2-M3	T	A	17: 37,581,988 (GRCm39)	I148N	probably damaging	Het
Hs6st3	G	T	14: 119,376,235 (GRCm39)	V137L	probably damaging	Het
Ighv1-42	T	A	12: 114,900,927 (GRCm39)	M53L	probably benign	Het
Klhl24	C	T	16: 19,941,735 (GRCm39)	T561I		Het
Klhl26	C	G	8: 70,904,803 (GRCm39)	G369A	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrrd1	A	T	5: 3,913,980 (GRCm39)	D750V		Het
Mc5r	A	G	18: 68,472,127 (GRCm39)	D162G	probably damaging	Het
Mrc2	T	A	11: 105,234,559 (GRCm39)	S1026R	probably benign	Het
Nf1	A	G	11: 79,436,195 (GRCm39)	H1945R	probably damaging	Het
Nr4a2	A	G	2: 57,002,114 (GRCm39)	M113T	probably benign	Het
Obox2	G	A	7: 15,131,113 (GRCm39)	G73D	probably damaging	Het
Or1af1	G	A	2: 37,110,400 (GRCm39)	A300T	probably damaging	Het
Or2t48	A	T	11: 58,420,355 (GRCm39)	C152*	probably null	Het
Pappa2	C	T	1: 158,642,029 (GRCm39)	M1342I	probably benign	Het
Pla2g6	A	T	15: 79,202,039 (GRCm39)	L44Q	probably damaging	Het
Pnpla1	A	T	17: 29,099,973 (GRCm39)	Q280L	probably benign	Het
Pramel23	T	A	4: 143,423,749 (GRCm39)	T347S	probably damaging	Het
Prdm1	C	T	10: 44,326,174 (GRCm39)	G117S	probably damaging	Het
Prss36	A	T	7: 127,545,605 (GRCm39)	F6I	probably benign	Het
Sat2	A	G	11: 69,513,725 (GRCm39)	Y81C	probably damaging	Het
Sbspon	T	C	1: 15,962,677 (GRCm39)	D67G	probably benign	Het
Shank2	G	A	7: 143,964,752 (GRCm39)	V787M	possibly damaging	Het
Stoml1	A	T	9: 58,163,968 (GRCm39)	I96F	probably damaging	Het
Tet2	C	T	3: 133,191,680 (GRCm39)	G918D	probably damaging	Het
Tgm4	A	G	9: 122,869,444 (GRCm39)	I8V	probably benign	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r67	A	C	7: 84,799,723 (GRCm39)		probably null	Het
Wdr90	C	A	17: 26,080,015 (GRCm39)	V107L	possibly damaging	Het
Zfp316	T	C	5: 143,241,161 (GRCm39)	D286G	unknown	Het
Zfp981	C	A	4: 146,622,080 (GRCm39)	P335Q	probably benign	Het
Zscan18	T	C	7: 12,508,343 (GRCm39)	T386A	possibly damaging	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
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
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'- TGCACAAAGGGCACTGAAAC -3'
(R):5'- TTCTGCAGGGTAGTGAGAGAC -3'

Sequencing Primer
(F):5'- CACTGAAACGTGGAGAGAATCAACC -3'
(R):5'- GAGACATGCACTGGAATTTATTTAAC -3'

Posted On

2022-06-15