Mutagenetix > Incidental Mutation

Incidental Mutation 'R5812:Zbtb39'

447565

Institutional Source

Beutler Lab

Gene Symbol

Zbtb39

Ensembl Gene

ENSMUSG00000044617

Gene Name

zinc finger and BTB domain containing 39

Synonyms

7030401O21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R5812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127575407-127583218 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 127577429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000052717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054287]

AlphaFold

Q6PDK0

Predicted Effect

probably null
Transcript: ENSMUST00000054287
AA Change: M1K

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

SMART Domains

Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: M1K

Domain	Start	End	E-Value	Type
BTB	30	126	9.15e-24	SMART
low complexity region	197	206	N/A	INTRINSIC
low complexity region	213	229	N/A	INTRINSIC
ZnF_C2H2	372	394	6.4e0	SMART
ZnF_C2H2	400	420	3.21e1	SMART
ZnF_C2H2	451	474	9.31e1	SMART
ZnF_C2H2	480	502	6.92e0	SMART
ZnF_C2H2	508	530	1.79e-2	SMART
ZnF_C2H2	538	560	1.18e-2	SMART
ZnF_C2H2	605	627	2.57e-3	SMART
ZnF_C2H2	633	655	3.78e-1	SMART
ZnF_C2H2	661	683	2.49e-1	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 137,882,299 (GRCm39)	S9P	probably damaging	Het
Aadacl2fm2	T	A	3: 59,654,693 (GRCm39)	Y176N	probably damaging	Het
Acsl5	G	A	19: 55,283,268 (GRCm39)	V615I	probably benign	Het
Ankk1	T	C	9: 49,338,153 (GRCm39)	K47E	probably benign	Het
Ankrd11	A	T	8: 123,620,544 (GRCm39)		probably null	Het
Bcl9l	T	C	9: 44,417,941 (GRCm39)	V593A	probably benign	Het
Cadps	T	C	14: 12,376,685 (GRCm38)	I1271V	probably benign	Het
Ccdc125	T	C	13: 100,820,812 (GRCm39)	W152R	probably damaging	Het
Cep192	T	C	18: 67,984,808 (GRCm39)	V1606A	possibly damaging	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cxxc5	T	A	18: 35,992,109 (GRCm39)	V170E	probably damaging	Het
Defb6	C	T	8: 19,278,110 (GRCm39)	R61C	possibly damaging	Het
Dnah10	T	A	5: 124,824,810 (GRCm39)	N655K	probably benign	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Gli1	C	T	10: 127,173,284 (GRCm39)	G125S	probably damaging	Het
Igkv14-126	A	T	6: 67,873,424 (GRCm39)	I51F	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jtb	T	C	3: 90,141,284 (GRCm39)	S87P	probably benign	Het
Kdm6b	A	T	11: 69,296,755 (GRCm39)	I504N	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Marchf4	T	C	1: 72,468,076 (GRCm39)	T319A	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Nt5e	T	C	9: 88,251,108 (GRCm39)	V459A	probably damaging	Het
Ogdhl	A	G	14: 32,054,822 (GRCm39)	K257E	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2g25	A	G	17: 37,970,630 (GRCm39)	L198P	probably damaging	Het
Osmr	A	T	15: 6,866,540 (GRCm39)	V378D	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pdzd7	G	T	19: 45,025,310 (GRCm39)	T395K	probably damaging	Het
Rasgef1c	A	G	11: 49,847,970 (GRCm39)	D35G	probably benign	Het
Rbm19	T	C	5: 120,279,642 (GRCm39)	F770L	probably damaging	Het
Rit2	C	A	18: 31,108,514 (GRCm39)	C157F	probably damaging	Het
Slc22a22	A	G	15: 57,119,869 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,651,403 (GRCm39)		probably null	Het
Speer2	C	A	16: 69,655,783 (GRCm39)	R14S	possibly damaging	Het
Tas2r105	C	A	6: 131,663,836 (GRCm39)	L197F	possibly damaging	Het
Tmprss11b	T	A	5: 86,812,957 (GRCm39)	H113L	possibly damaging	Het
Ttbk2	G	A	2: 120,653,040 (GRCm39)	P64S	probably damaging	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vps13c	T	A	9: 67,889,777 (GRCm39)		probably benign	Het

Other mutations in Zbtb39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Zbtb39	APN	10	127,578,235 (GRCm39)	missense	probably benign	0.00
R0636:Zbtb39	UTSW	10	127,578,704 (GRCm39)	missense	probably benign	0.01
R0959:Zbtb39	UTSW	10	127,578,931 (GRCm39)	missense	probably damaging	1.00
R0959:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R0962:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R0964:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1188:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1189:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1239:Zbtb39	UTSW	10	127,578,938 (GRCm39)	missense	probably damaging	1.00
R1341:Zbtb39	UTSW	10	127,579,369 (GRCm39)	missense	possibly damaging	0.91
R1838:Zbtb39	UTSW	10	127,578,569 (GRCm39)	missense	probably damaging	1.00
R2012:Zbtb39	UTSW	10	127,578,703 (GRCm39)	missense	probably benign	0.43
R2167:Zbtb39	UTSW	10	127,578,844 (GRCm39)	missense	probably benign	0.03
R2346:Zbtb39	UTSW	10	127,577,450 (GRCm39)	missense	possibly damaging	0.49
R4041:Zbtb39	UTSW	10	127,579,423 (GRCm39)	missense	probably damaging	1.00
R4171:Zbtb39	UTSW	10	127,578,236 (GRCm39)	missense	possibly damaging	0.51
R4409:Zbtb39	UTSW	10	127,578,696 (GRCm39)	missense	possibly damaging	0.51
R4410:Zbtb39	UTSW	10	127,578,696 (GRCm39)	missense	possibly damaging	0.51
R4539:Zbtb39	UTSW	10	127,578,061 (GRCm39)	missense	possibly damaging	0.90
R5761:Zbtb39	UTSW	10	127,578,515 (GRCm39)	missense	probably damaging	1.00
R5766:Zbtb39	UTSW	10	127,578,557 (GRCm39)	missense	probably damaging	1.00
R6710:Zbtb39	UTSW	10	127,579,505 (GRCm39)	missense	probably damaging	1.00
R6919:Zbtb39	UTSW	10	127,577,711 (GRCm39)	missense	probably damaging	1.00
R7941:Zbtb39	UTSW	10	127,579,409 (GRCm39)	missense	probably damaging	1.00
R8711:Zbtb39	UTSW	10	127,578,815 (GRCm39)	missense	probably damaging	1.00
X0024:Zbtb39	UTSW	10	127,577,635 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbtb39	UTSW	10	127,578,296 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- TGCAGGGTGAAGGTCATTCC -3'
(R):5'- TCTAGCCCAGTGTTTAAGAAGAG -3'

Sequencing Primer
(F):5'- GGTGAAGGTCATTCCCCACTC -3'
(R):5'- AGCCCAGTGTTTAAGAAGAGGTTCTG -3'

Posted On

2016-12-15