Mutagenetix > Incidental Mutation

Incidental Mutation 'R8968:Btbd7'

682881

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 #

R8968 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102780797-102878471 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 102812766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 414 (G414C)

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: G414C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: G414C

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: G414C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,332,310	L1153*	probably null	Het
2410089E03Rik	A	T	15: 8,201,281	H1014L	possibly damaging	Het
2810474O19Rik	T	A	6: 149,327,166	V570D	probably damaging	Het
Adamts2	T	C	11: 50,792,723	I944T	possibly damaging	Het
Aqp9	A	T	9: 71,138,203	C67*	probably null	Het
Armt1	G	T	10: 4,454,150	G412W	probably damaging	Het
B4galt1	T	C	4: 40,807,243	D381G	probably benign	Het
Bmp5	A	T	9: 75,873,297	H292L	probably benign	Het
Brpf1	T	C	6: 113,322,549	F1181S	probably damaging	Het
Ccdc65	A	T	15: 98,718,842	K204*	probably null	Het
Cdk5	T	A	5: 24,422,381	K88M	probably damaging	Het
Cdrt4	T	A	11: 62,992,808	L112Q	probably damaging	Het
Cenpb	T	C	2: 131,178,627	E417G	unknown	Het
Cep135	T	C	5: 76,606,729	I351T	possibly damaging	Het
Ces1d	A	T	8: 93,187,755	S226R	probably damaging	Het
Cfap97	T	A	8: 46,170,077	V168E	possibly damaging	Het
CN725425	T	C	15: 91,245,887	C318R	possibly damaging	Het
Cnga3	T	A	1: 37,261,379	D393E	probably benign	Het
Cpsf1	G	A	15: 76,601,969	R358*	probably null	Het
Cyp2b23	G	A	7: 26,679,538	P167L	probably damaging	Het
Cyp2c70	A	T	19: 40,153,615	H477Q	probably benign	Het
D930020B18Rik	A	C	10: 121,654,816	Y107S	probably damaging	Het
Dhrs1	A	T	14: 55,740,735	F216I	probably benign	Het
Dmgdh	A	T	13: 93,709,259	K474*	probably null	Het
Dsp	T	C	13: 38,151,620	I11T	possibly damaging	Het
Erh	G	T	12: 80,637,508	A65E	probably benign	Het
Fmnl1	AGGCTCTGG	AGG	11: 103,186,618		probably benign	Het
Grid2	A	C	6: 64,666,155	H967P	probably benign	Het
Hc	A	G	2: 35,032,305	I503T	possibly damaging	Het
Herc3	T	C	6: 58,890,198	L824S	probably damaging	Het
Hfm1	T	C	5: 106,917,573	D80G	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Hspa1l	A	G	17: 34,977,254	K90E	possibly damaging	Het
Impa2	G	A	18: 67,318,427	V264I	probably benign	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Klhl38	C	T	15: 58,322,104	V410I	probably benign	Het
Lcn4	A	G	2: 26,668,348	I175T	possibly damaging	Het
Lipo2	C	A	19: 33,749,517	W40L	probably damaging	Het
Mgam	A	T	6: 40,757,811		probably null	Het
Myo16	T	A	8: 10,569,700	I1417N	unknown	Het
Olfr1052	G	A	2: 86,298,182	R122H	probably benign	Het
Olfr1196	T	A	2: 88,700,793	I179F	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr603	A	T	7: 103,383,460	C181S	probably damaging	Het
Pcdha11	A	G	18: 37,012,254	N466S	probably damaging	Het
Pif1	C	T	9: 65,591,794	T432M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Pole	T	C	5: 110,312,083	S1118P	possibly damaging	Het
Ppp4r4	T	C	12: 103,600,447	M652T	probably benign	Het
Prex2	A	T	1: 11,110,338	K376*	probably null	Het
Prps1l1	A	T	12: 34,985,206	I107F	probably damaging	Het
Rfc1	C	T	5: 65,275,435	V761I	probably benign	Het
Ripk4	T	C	16: 97,746,003	E353G	probably benign	Het
Robo2	C	A	16: 73,971,053		probably null	Het
Rrm1	C	T	7: 102,468,338	A745V	probably benign	Het
Sash1	A	T	10: 8,730,415	V737D	probably benign	Het
Sel1l2	T	C	2: 140,285,289	K101E	probably benign	Het
Selenbp2	A	T	3: 94,700,030	I253F	probably benign	Het
Setd1a	C	T	7: 127,786,107	P662L	possibly damaging	Het
Slc16a6	C	T	11: 109,454,950	V496I	possibly damaging	Het
Slc4a4	A	T	5: 89,084,653	M239L	probably benign	Het
Slc7a8	G	C	14: 54,781,293	A12G	probably benign	Het
Snx30	T	C	4: 59,886,517	S309P	possibly damaging	Het
Spen	T	C	4: 141,470,390	N3389S	probably benign	Het
Spg11	T	C	2: 122,092,206	T921A	probably damaging	Het
Tanc2	T	A	11: 105,867,574	D720E	possibly damaging	Het
Tmprss9	A	T	10: 80,894,329	I688F	possibly damaging	Het
Trap1	A	G	16: 4,044,626	V596A	possibly damaging	Het
Ttc32	G	T	12: 9,030,187	R44L	probably benign	Het
Tusc3	T	A	8: 39,130,744	N288K	probably benign	Het
Ush2a	G	A	1: 188,395,759	G656E	probably damaging	Het
Vill	T	C	9: 119,063,603		probably null	Het
Vmn1r5	A	T	6: 56,986,197	R286*	probably null	Het
Vmn2r14	T	C	5: 109,217,667	T514A	probably benign	Het
Vmn2r32	G	A	7: 7,474,205	H396Y	probably benign	Het
Vmn2r75	A	T	7: 86,171,557	Y56*	probably null	Het
Wdfy3	C	T	5: 101,864,117	S2668N	probably benign	Het
Wdr72	G	A	9: 74,152,447	D392N	probably benign	Het
Zfp518a	A	C	19: 40,913,426	K600Q	possibly 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
R7083:Btbd7	UTSW	12	102788335	missense	probably damaging	0.99
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
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'- ATGACGAACTTCTTTGTGCACAC -3'
(R):5'- TGTTAACCTGTCCCACGAAG -3'

Sequencing Primer
(F):5'- CTTTGTGCACACAGGATGAC -3'
(R):5'- AACCTGTCCCACGAAGTCTTGATG -3'

Posted On

2021-10-11