Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01935:Zbtb39'

180604

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb39

Ensembl Gene

ENSMUSG00000044617

Gene Name

zinc finger and BTB domain containing 39

Synonyms

7030401O21Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01935

Quality Score

Status

Chromosome

Chromosomal Location

127575407-127583218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127578235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 270 (T270A)

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: T270A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: T270A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,583,383 (GRCm39)		probably benign	Het
Akr1c12	A	T	13: 4,322,244 (GRCm39)	V266E	probably damaging	Het
Arhgef1	A	G	7: 24,621,307 (GRCm39)	T186A	probably damaging	Het
Atp8b5	A	G	4: 43,366,638 (GRCm39)	T801A	probably benign	Het
Card11	T	A	5: 140,869,301 (GRCm39)	I832F	possibly damaging	Het
Catsperg1	T	C	7: 28,895,296 (GRCm39)		probably null	Het
Ccdc180	A	G	4: 45,906,889 (GRCm39)	T455A	possibly damaging	Het
Cfhr1	T	A	1: 139,478,740 (GRCm39)	Y210F	probably benign	Het
Chrna5	T	C	9: 54,912,127 (GRCm39)	V309A	probably benign	Het
Clstn2	A	G	9: 97,345,521 (GRCm39)	V609A	probably damaging	Het
Dnah6	T	C	6: 73,037,126 (GRCm39)	D3372G	probably benign	Het
Dtymk	T	C	1: 93,722,465 (GRCm39)	K113E	probably benign	Het
Eef2k	T	C	7: 120,485,054 (GRCm39)	F307S	probably damaging	Het
Flnc	T	A	6: 29,454,279 (GRCm39)	V1864E	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Herc2	A	G	7: 55,803,541 (GRCm39)	Y2192C	probably benign	Het
Hkdc1	A	T	10: 62,236,165 (GRCm39)	V459E	probably damaging	Het
Iqsec3	T	C	6: 121,360,951 (GRCm39)	D969G	probably damaging	Het
Irf3	A	G	7: 44,650,194 (GRCm39)	T237A	probably benign	Het
Jade2	G	A	11: 51,719,211 (GRCm39)	T245I	possibly damaging	Het
Kctd8	A	G	5: 69,497,707 (GRCm39)	I313T	possibly damaging	Het
Kdm5a	T	A	6: 120,385,284 (GRCm39)	S835R	probably benign	Het
Lama2	A	C	10: 27,298,600 (GRCm39)	H165Q	probably damaging	Het
Lrp1b	T	A	2: 41,158,367 (GRCm39)	N1617Y	probably damaging	Het
Mcc	C	T	18: 44,652,583 (GRCm39)		probably null	Het
Mfsd14b	T	A	13: 65,215,739 (GRCm39)	M405L	probably benign	Het
Myom3	T	A	4: 135,515,692 (GRCm39)	F794I	probably damaging	Het
Napsa	G	T	7: 44,236,046 (GRCm39)	A362S	probably benign	Het
Ncf4	A	T	15: 78,140,186 (GRCm39)	D195V	probably damaging	Het
Or11g1	T	C	14: 50,651,012 (GRCm39)	F4L	probably benign	Het
Pank4	T	G	4: 155,063,987 (GRCm39)	D659E	probably damaging	Het
Pcnx1	T	A	12: 81,964,590 (GRCm39)	D252E	probably benign	Het
Pglyrp2	G	A	17: 32,637,551 (GRCm39)	A159V	probably benign	Het
Phaf1	T	C	8: 105,966,633 (GRCm39)	F127L	probably damaging	Het
Pisd	C	A	5: 32,896,476 (GRCm39)		probably null	Het
Ppfia4	A	G	1: 134,245,674 (GRCm39)	S627P	probably benign	Het
Ppp1r15b	T	C	1: 133,059,761 (GRCm39)	F93L	probably benign	Het
Pramel13	C	T	4: 144,119,172 (GRCm39)		probably benign	Het
Qrfpr	A	T	3: 36,235,200 (GRCm39)		probably null	Het
Rapgef4	C	A	2: 72,064,467 (GRCm39)	T623K	probably benign	Het
Rapgef6	A	G	11: 54,501,668 (GRCm39)	T184A	possibly damaging	Het
Ssrp1	T	C	2: 84,877,056 (GRCm39)	*709Q	probably null	Het
St7	T	G	6: 17,930,822 (GRCm39)	I442S	probably damaging	Het
Syne2	T	A	12: 75,972,087 (GRCm39)	H992Q	probably damaging	Het
Syt14	T	C	1: 192,615,679 (GRCm39)	R436G	probably damaging	Het
Tbc1d5	A	G	17: 51,270,793 (GRCm39)		probably benign	Het
Thsd7a	T	A	6: 12,317,418 (GRCm39)	N1630I	probably damaging	Het
Tinagl1	T	C	4: 130,061,794 (GRCm39)	K180R	probably damaging	Het
Tmed7	T	C	18: 46,730,190 (GRCm39)	T54A	probably benign	Het
Tmprss2	A	T	16: 97,379,795 (GRCm39)	Y48*	probably null	Het
Tns2	C	T	15: 102,020,069 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,960,577 (GRCm39)	M496V	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfr	T	C	15: 12,180,798 (GRCm39)	S976P	probably benign	Het
Zscan29	A	G	2: 121,000,538 (GRCm39)	F23S	probably damaging	Het

Other mutations in Zbtb39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07