Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Zbtb39'

81499

Institutional Source

Beutler Lab

Gene Symbol

Zbtb39

Ensembl Gene

ENSMUSG00000044617

Gene Name

zinc finger and BTB domain containing 39

Synonyms

7030401O21Rik

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127575407-127583218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 127578175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 250 (Q250E)

Ref Sequence

ENSEMBL: ENSMUSP00000052717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054287] [ENSMUST00000079692]

AlphaFold

Q6PDK0

Predicted Effect

probably benign
Transcript: ENSMUST00000054287
AA Change: Q250E

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: Q250E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000079692

SMART Domains

Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	316	1.2e-40	PFAM
low complexity region	340	352	N/A	INTRINSIC

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	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
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
R5812:Zbtb39	UTSW	10	127,577,429 (GRCm39)	start codon destroyed	probably null	0.99
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'- TGACACTAATCATGGCTTGCCCC -3'
(R):5'- GCTGTCGTCGCTCAACTCAATCAC -3'

Sequencing Primer
(F):5'- TCTGTTCCTAGTGTGGCAAC -3'
(R):5'- GCGGTCCCGATGTCTTC -3'

Posted On

2013-11-07