Mutagenetix > Incidental Mutation

Incidental Mutation 'R7083:Btbd7'

549701

Institutional Source

Beutler Lab

Gene Symbol

Btbd7

Ensembl Gene

ENSMUSG00000041702

Gene Name

BTB (POZ) domain containing 7

Synonyms

FUP1, E130118E17Rik, 5730507E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R7083 (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 G at 102788335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 724 (L724P)

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: L724P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: L724P

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: L724P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	A	T	12: 81,560,241	M249K	possibly damaging	Het
Arhgef38	T	A	3: 133,132,436	Q613L	unknown	Het
Arpp21	A	G	9: 112,183,544	V70A	probably benign	Het
AW551984	T	C	9: 39,597,647	N327S	probably damaging	Het
Bnc1	T	C	7: 81,973,310	K723R	probably damaging	Het
Btnl10	G	T	11: 58,919,137	V35F	probably damaging	Het
Cd22	T	A	7: 30,868,048	T704S	probably damaging	Het
Cd4	T	G	6: 124,870,572	S210R	probably benign	Het
Cped1	A	G	6: 22,123,580	Q444R	probably benign	Het
Dusp26	A	G	8: 31,091,719		probably benign	Het
Dync1i1	C	T	6: 5,969,429	A418V	probably damaging	Het
Fibp	A	G	19: 5,463,631	D232G	probably damaging	Het
Frem2	T	A	3: 53,537,493	T2406S	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,713		probably benign	Het
Gpr39	T	A	1: 125,677,418	W28R	probably damaging	Het
Greb1	A	G	12: 16,723,314	V253A	probably benign	Het
Hexim1	T	G	11: 103,117,166	L82W	possibly damaging	Het
Hmga1	G	T	17: 27,560,971	R49L	possibly damaging	Het
Itch	A	T	2: 155,210,444	N655Y	probably damaging	Het
Izumo2	A	G	7: 44,710,333	E129G	probably damaging	Het
Klk1b24	G	A	7: 44,191,801	C186Y	probably damaging	Het
Lnx1	G	A	5: 74,628,185	S31F	possibly damaging	Het
Lrmp	A	T	6: 145,169,783	N349I	probably damaging	Het
Lrrc37a	T	C	11: 103,503,340	I420V	probably benign	Het
Ltk	A	C	2: 119,752,074	C776G	probably damaging	Het
Mast4	A	C	13: 102,737,715	L1715R	probably damaging	Het
Med28	T	C	5: 45,523,536		probably null	Het
Naf1	GCCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	GCCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 66,860,486		probably benign	Het
Nckap1l	C	A	15: 103,482,124	T774K	probably damaging	Het
Nfkbiz	T	C	16: 55,818,300	K266E	possibly damaging	Het
Ntrk3	T	A	7: 78,250,839	D584V	probably damaging	Het
Olfr107	T	C	17: 37,406,172	V208A	probably benign	Het
Olfr1261	A	G	2: 89,993,857	I155V	probably benign	Het
Olfr132	T	A	17: 38,130,710	T161S	probably benign	Het
Olfr193	T	C	16: 59,110,037	D191G	probably damaging	Het
Olfr733	G	A	14: 50,299,279	T10I	possibly damaging	Het
Picalm	T	A	7: 90,176,768	I376K	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prps1l3	A	T	12: 57,239,248	I275L	probably benign	Het
Psg26	G	A	7: 18,480,009	R243*	probably null	Het
Ranbp2	A	G	10: 58,479,230	H1924R	probably damaging	Het
Rasef	T	C	4: 73,790,984	D4G	probably benign	Het
Rttn	T	C	18: 89,090,598	L1642P	probably damaging	Het
Shroom3	T	C	5: 92,964,525	L1915P	probably damaging	Het
Slc26a10	A	G	10: 127,177,168	V319A	probably damaging	Het
Slc4a10	A	G	2: 62,234,495	N231S	probably benign	Het
Sox18	T	C	2: 181,670,372	Q322R	possibly damaging	Het
Syde1	G	T	10: 78,587,069	P490T	probably benign	Het
Syne2	A	G	12: 75,943,888	I1881M	probably damaging	Het
Taf1c	T	C	8: 119,600,668	D387G	probably damaging	Het
Tenm4	T	A	7: 96,895,349	Y2228N	probably damaging	Het
Tmem173	T	C	18: 35,734,650	H331R	probably damaging	Het
Tubgcp5	C	T	7: 55,800,695	Q185*	probably null	Het
Vmn2r44	T	A	7: 8,378,370	I175F	probably benign	Het
Zdhhc7	C	A	8: 120,085,427	C152F	probably damaging	Het
Zfp52	T	A	17: 21,560,130	M80K	possibly damaging	Het
Zfp612	T	C	8: 110,089,136	I325T	probably damaging	Het
Zmiz1	T	G	14: 25,651,948	F597V	probably damaging	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
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
R9216:Btbd7	UTSW	12	102795304	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'- AGCTGTTCTGCAGTGAAACAG -3'
(R):5'- GCATGGTGCACATATCTTAGAGG -3'

Sequencing Primer
(F):5'- CTGTTCTGCAGTGAAACAGTGAATG -3'
(R):5'- GTGCACATATCTTAGAGGTTGAAG -3'

Posted On

2019-05-15