Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Zbtb40'

43695

Institutional Source

Beutler Lab

Gene Symbol

Zbtb40

Ensembl Gene

ENSMUSG00000060862

Gene Name

zinc finger and BTB domain containing 40

Synonyms

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136979732-137048801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136987278 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1067 (C1067R)

Ref Sequence

ENSEMBL: ENSMUSP00000061899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049583]

AlphaFold

Q6PCS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049583
AA Change: C1067R

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

SMART Domains

Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: C1067R

Domain	Start	End	E-Value	Type
low complexity region	8	14	N/A	INTRINSIC
BTB	24	117	3.39e-18	SMART
low complexity region	150	170	N/A	INTRINSIC
low complexity region	525	533	N/A	INTRINSIC
low complexity region	725	741	N/A	INTRINSIC
ZnF_C2H2	754	774	4.86e1	SMART
low complexity region	786	801	N/A	INTRINSIC
ZnF_C2H2	825	848	1.16e-1	SMART
ZnF_C2H2	854	876	1.1e-2	SMART
ZnF_C2H2	882	905	1.16e-1	SMART
ZnF_C2H2	911	933	1.2e-3	SMART
ZnF_C2H2	939	962	8.81e-2	SMART
ZnF_C2H2	969	992	7.05e-1	SMART
ZnF_C2H2	997	1019	1.47e-3	SMART
ZnF_C2H2	1025	1047	2.86e-1	SMART
ZnF_C2H2	1065	1088	6.67e-2	SMART
ZnF_C2H2	1094	1117	6.23e-2	SMART
ZnF_C2H2	1123	1146	1.53e-1	SMART
ZnF_C2H2	1154	1177	1.56e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000218160
AA Change: C158R

Meta Mutation Damage Score

0.9552

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het

Other mutations in Zbtb40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Zbtb40	APN	4	136987340	missense	probably damaging	0.99
IGL00573:Zbtb40	APN	4	137018078	missense	probably benign	0.00
IGL00774:Zbtb40	APN	4	136994524	missense	probably damaging	1.00
R0046:Zbtb40	UTSW	4	136987278	missense	probably damaging	1.00
R0334:Zbtb40	UTSW	4	136986556	missense	probably damaging	1.00
R0393:Zbtb40	UTSW	4	137018531	missense	probably benign	0.09
R0482:Zbtb40	UTSW	4	136983228	missense	probably damaging	1.00
R1457:Zbtb40	UTSW	4	136984837	missense	possibly damaging	0.81
R1846:Zbtb40	UTSW	4	137007839	missense	probably benign	0.00
R2153:Zbtb40	UTSW	4	136991635	missense	probably damaging	1.00
R2206:Zbtb40	UTSW	4	137017285	nonsense	probably null
R2291:Zbtb40	UTSW	4	136985017	missense	possibly damaging	0.78
R2406:Zbtb40	UTSW	4	136998568	missense	probably benign	0.34
R3707:Zbtb40	UTSW	4	136999568	missense	probably damaging	1.00
R4131:Zbtb40	UTSW	4	136995396	missense	probably benign	0.00
R4243:Zbtb40	UTSW	4	137018549	missense	probably benign	0.00
R4424:Zbtb40	UTSW	4	136998694	missense	probably damaging	0.96
R4725:Zbtb40	UTSW	4	137018761	utr 5 prime	probably benign
R4784:Zbtb40	UTSW	4	137007097	missense	probably damaging	1.00
R4795:Zbtb40	UTSW	4	136998642	missense	probably benign	0.00
R4796:Zbtb40	UTSW	4	136998642	missense	probably benign	0.00
R4838:Zbtb40	UTSW	4	137001216	missense	probably benign	0.15
R4859:Zbtb40	UTSW	4	136988759	missense	probably damaging	0.98
R4883:Zbtb40	UTSW	4	137000930	missense	probably benign	0.09
R5001:Zbtb40	UTSW	4	136996150	missense	probably damaging	1.00
R5030:Zbtb40	UTSW	4	136997952	missense	probably benign	0.00
R5060:Zbtb40	UTSW	4	137001293	missense	possibly damaging	0.71
R5529:Zbtb40	UTSW	4	136983163	missense	possibly damaging	0.90
R5536:Zbtb40	UTSW	4	136987331	missense	probably damaging	1.00
R5589:Zbtb40	UTSW	4	136995283	missense	probably damaging	1.00
R6114:Zbtb40	UTSW	4	136988691	missense	probably damaging	1.00
R6393:Zbtb40	UTSW	4	136984866	missense	probably null
R7208:Zbtb40	UTSW	4	136999626	splice site	probably null
R7406:Zbtb40	UTSW	4	137000894	missense	probably benign	0.29
R7722:Zbtb40	UTSW	4	136991518	missense	probably damaging	0.98
R7803:Zbtb40	UTSW	4	137017327	missense	probably benign
R8292:Zbtb40	UTSW	4	136999567	missense	probably damaging	1.00
R8735:Zbtb40	UTSW	4	136998646	missense	probably damaging	1.00
R8890:Zbtb40	UTSW	4	136998586	missense	probably damaging	1.00
R9003:Zbtb40	UTSW	4	137018593	missense	probably damaging	1.00
R9290:Zbtb40	UTSW	4	137018218	missense	probably benign	0.00
R9328:Zbtb40	UTSW	4	137018309	missense	probably benign	0.00
RF014:Zbtb40	UTSW	4	137017306	missense	probably benign	0.20
Z1176:Zbtb40	UTSW	4	136995463	missense	probably damaging	1.00
Z1177:Zbtb40	UTSW	4	137018024	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTACTGCTCCTGATGGACAGGC -3'
(R):5'- AGACTGCGTGTGATCTCTAGGAGAC -3'

Sequencing Primer
(F):5'- ATGGACAGGCGTGGTCTC -3'
(R):5'- ATGCAGCTTCAGGCTCTACAG -3'

Posted On

2013-05-29