Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Zbtb40'

369034

Institutional Source

Beutler Lab

Gene Symbol

Zbtb40

Ensembl Gene

ENSMUSG00000060862

Gene Name

zinc finger and BTB domain containing 40

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R4796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136707043-136776112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136725953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 535 (M535I)

Ref Sequence

ENSEMBL: ENSMUSP00000061899 (fasta)

Gene Model

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

AlphaFold

Q6PCS8

Predicted Effect

probably benign
Transcript: ENSMUST00000049583
AA Change: M535I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: M535I

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,303,350 (GRCm39)	W132*	probably null	Het
Atp8b3	A	G	10: 80,360,188 (GRCm39)	V961A	probably damaging	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Bmp1	T	C	14: 70,729,513 (GRCm39)		probably null	Het
Brd10	G	A	19: 29,731,018 (GRCm39)	H665Y	probably benign	Het
Btaf1	T	C	19: 36,933,828 (GRCm39)	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,333,479 (GRCm39)	N621I	probably damaging	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Ccdc59	T	C	10: 105,677,429 (GRCm39)	S23P	probably benign	Het
Cd22	A	T	7: 30,572,381 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Cep112	T	C	11: 108,377,818 (GRCm39)		probably null	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Coq10b	A	G	1: 55,110,957 (GRCm39)	T242A	probably damaging	Het
Cstdc2	A	G	2: 148,692,658 (GRCm39)	F48S	probably damaging	Het
Ctnnd1	G	T	2: 84,450,270 (GRCm39)	R317S	probably damaging	Het
Dlg5	G	A	14: 24,194,451 (GRCm39)	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,254,354 (GRCm39)	N75K	probably damaging	Het
Efna4	T	C	3: 89,242,555 (GRCm39)	E113G	probably damaging	Het
Egr3	C	A	14: 70,315,024 (GRCm39)	A44D	probably benign	Het
Ercc3	T	C	18: 32,381,363 (GRCm39)	F393S	probably damaging	Het
Evi2	T	A	11: 79,406,273 (GRCm39)		probably benign	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Farsb	A	T	1: 78,401,833 (GRCm39)	*590R	probably null	Het
Fat3	A	G	9: 15,911,028 (GRCm39)	M1658T	probably benign	Het
Fhod3	G	T	18: 25,118,358 (GRCm39)	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fzd3	A	G	14: 65,472,607 (GRCm39)	V387A	possibly damaging	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm7964	A	G	7: 83,405,109 (GRCm39)		probably null	Het
Hbs1l	G	T	10: 21,218,405 (GRCm39)	G301C	probably damaging	Het
Hipk4	A	G	7: 27,227,995 (GRCm39)	H247R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hoxa5	C	T	6: 52,180,943 (GRCm39)	A130T	probably benign	Het
Igf2r	C	T	17: 12,903,013 (GRCm39)	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,143,889 (GRCm39)	V14A	probably benign	Het
Impg1	G	A	9: 80,301,377 (GRCm39)	P183L	probably damaging	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Itgb5	T	C	16: 33,705,391 (GRCm39)	V227A	possibly damaging	Het
Jph4	G	T	14: 55,347,165 (GRCm39)	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,211,586 (GRCm39)		probably null	Het
Klrc1	T	A	6: 129,654,725 (GRCm39)		probably null	Het
Lonrf2	A	T	1: 38,855,119 (GRCm39)	L92Q	probably benign	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mapk13	T	C	17: 28,994,528 (GRCm39)	Y140H	probably damaging	Het
Meak7	A	T	8: 120,495,093 (GRCm39)	S222T	probably benign	Het
Mgat4d	A	G	8: 84,084,749 (GRCm39)	E164G	probably damaging	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Mtcl2	A	G	2: 156,862,172 (GRCm39)	S1586P	probably benign	Het
Mthfs	A	T	9: 89,122,078 (GRCm39)	H188L	probably benign	Het
Muc5b	T	A	7: 141,417,983 (GRCm39)	M3643K	possibly damaging	Het
Mylk3	T	C	8: 86,077,014 (GRCm39)	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,877,701 (GRCm39)	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nxph2	C	T	2: 23,289,870 (GRCm39)	T74M	probably benign	Het
Ogdh	T	A	11: 6,290,570 (GRCm39)	M385K	probably benign	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or3a1c	A	T	11: 74,046,417 (GRCm39)	I146F	probably benign	Het
Or4a2	T	C	2: 89,248,235 (GRCm39)	H174R	probably damaging	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or7g18	T	C	9: 18,787,475 (GRCm39)	V284A	probably damaging	Het
Or8b54	T	A	9: 38,686,670 (GRCm39)	F40I	probably benign	Het
Pcsk2	A	C	2: 143,655,345 (GRCm39)	I510L	probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pex26	T	C	6: 121,170,516 (GRCm39)	F287S	probably damaging	Het
Pick1	G	C	15: 79,139,810 (GRCm39)		probably benign	Het
Plxnb1	G	T	9: 108,943,663 (GRCm39)	V1917L	probably damaging	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Ppp1r10	T	G	17: 36,234,979 (GRCm39)	I61R	probably damaging	Het
Prex1	A	T	2: 166,434,211 (GRCm39)	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,983,019 (GRCm39)	I133R	probably damaging	Het
Rassf10	G	T	7: 112,553,735 (GRCm39)	R112L	probably damaging	Het
Ripor3	T	A	2: 167,823,260 (GRCm39)	I884F	probably damaging	Het
Rnft2	A	G	5: 118,339,311 (GRCm39)	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,815,522 (GRCm39)	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Sgca	A	T	11: 94,861,553 (GRCm39)		probably null	Het
Slc22a3	T	C	17: 12,642,675 (GRCm39)	E514G	probably damaging	Het
Slc28a2b	T	A	2: 122,344,940 (GRCm39)	I182N	probably damaging	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,636,599 (GRCm39)	V425I	probably benign	Het
Ssx2ip	T	C	3: 146,124,114 (GRCm39)	V43A	probably benign	Het
Synpo	A	G	18: 60,737,386 (GRCm39)	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Upk1b	T	C	16: 38,607,604 (GRCm39)	H41R	probably benign	Het
Vmn2r76	T	C	7: 85,879,652 (GRCm39)	D216G	possibly damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zfp383	A	C	7: 29,614,263 (GRCm39)	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het

Other mutations in Zbtb40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Zbtb40	APN	4	136,714,651 (GRCm39)	missense	probably damaging	0.99
IGL00573:Zbtb40	APN	4	136,745,389 (GRCm39)	missense	probably benign	0.00
IGL00774:Zbtb40	APN	4	136,721,835 (GRCm39)	missense	probably damaging	1.00
R0046:Zbtb40	UTSW	4	136,714,589 (GRCm39)	missense	probably damaging	1.00
R0046:Zbtb40	UTSW	4	136,714,589 (GRCm39)	missense	probably damaging	1.00
R0334:Zbtb40	UTSW	4	136,713,867 (GRCm39)	missense	probably damaging	1.00
R0393:Zbtb40	UTSW	4	136,745,842 (GRCm39)	missense	probably benign	0.09
R0482:Zbtb40	UTSW	4	136,710,539 (GRCm39)	missense	probably damaging	1.00
R1457:Zbtb40	UTSW	4	136,712,148 (GRCm39)	missense	possibly damaging	0.81
R1846:Zbtb40	UTSW	4	136,735,150 (GRCm39)	missense	probably benign	0.00
R2153:Zbtb40	UTSW	4	136,718,946 (GRCm39)	missense	probably damaging	1.00
R2206:Zbtb40	UTSW	4	136,744,596 (GRCm39)	nonsense	probably null
R2291:Zbtb40	UTSW	4	136,712,328 (GRCm39)	missense	possibly damaging	0.78
R2406:Zbtb40	UTSW	4	136,725,879 (GRCm39)	missense	probably benign	0.34
R3707:Zbtb40	UTSW	4	136,726,879 (GRCm39)	missense	probably damaging	1.00
R4131:Zbtb40	UTSW	4	136,722,707 (GRCm39)	missense	probably benign	0.00
R4243:Zbtb40	UTSW	4	136,745,860 (GRCm39)	missense	probably benign	0.00
R4424:Zbtb40	UTSW	4	136,726,005 (GRCm39)	missense	probably damaging	0.96
R4725:Zbtb40	UTSW	4	136,746,072 (GRCm39)	utr 5 prime	probably benign
R4784:Zbtb40	UTSW	4	136,734,408 (GRCm39)	missense	probably damaging	1.00
R4795:Zbtb40	UTSW	4	136,725,953 (GRCm39)	missense	probably benign	0.00
R4838:Zbtb40	UTSW	4	136,728,527 (GRCm39)	missense	probably benign	0.15
R4859:Zbtb40	UTSW	4	136,716,070 (GRCm39)	missense	probably damaging	0.98
R4883:Zbtb40	UTSW	4	136,728,241 (GRCm39)	missense	probably benign	0.09
R5001:Zbtb40	UTSW	4	136,723,461 (GRCm39)	missense	probably damaging	1.00
R5030:Zbtb40	UTSW	4	136,725,263 (GRCm39)	missense	probably benign	0.00
R5060:Zbtb40	UTSW	4	136,728,604 (GRCm39)	missense	possibly damaging	0.71
R5529:Zbtb40	UTSW	4	136,710,474 (GRCm39)	missense	possibly damaging	0.90
R5536:Zbtb40	UTSW	4	136,714,642 (GRCm39)	missense	probably damaging	1.00
R5589:Zbtb40	UTSW	4	136,722,594 (GRCm39)	missense	probably damaging	1.00
R6114:Zbtb40	UTSW	4	136,716,002 (GRCm39)	missense	probably damaging	1.00
R6393:Zbtb40	UTSW	4	136,712,177 (GRCm39)	missense	probably null
R7208:Zbtb40	UTSW	4	136,726,937 (GRCm39)	splice site	probably null
R7406:Zbtb40	UTSW	4	136,728,205 (GRCm39)	missense	probably benign	0.29
R7722:Zbtb40	UTSW	4	136,718,829 (GRCm39)	missense	probably damaging	0.98
R7803:Zbtb40	UTSW	4	136,744,638 (GRCm39)	missense	probably benign
R8292:Zbtb40	UTSW	4	136,726,878 (GRCm39)	missense	probably damaging	1.00
R8735:Zbtb40	UTSW	4	136,725,957 (GRCm39)	missense	probably damaging	1.00
R8890:Zbtb40	UTSW	4	136,725,897 (GRCm39)	missense	probably damaging	1.00
R9003:Zbtb40	UTSW	4	136,745,904 (GRCm39)	missense	probably damaging	1.00
R9290:Zbtb40	UTSW	4	136,745,529 (GRCm39)	missense	probably benign	0.00
R9328:Zbtb40	UTSW	4	136,745,620 (GRCm39)	missense	probably benign	0.00
RF014:Zbtb40	UTSW	4	136,744,617 (GRCm39)	missense	probably benign	0.20
Z1176:Zbtb40	UTSW	4	136,722,774 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbtb40	UTSW	4	136,745,335 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCTATAGGCAACAGCAAGG -3'
(R):5'- CACCAAGGGCATGATGTGTG -3'

Sequencing Primer
(F):5'- CTCTATAGGCAACAGCAAGGCAAAG -3'
(R):5'- GGCATGATGTGTGTTAAATAAGCCTC -3'

Posted On

2016-02-04