Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Zbtb5'

296745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb5

Ensembl Gene

ENSMUSG00000049657

Gene Name

zinc finger and BTB domain containing 5

Synonyms

9430083K24Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

44991242-45012412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44993798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 529 (Y529N)

Ref Sequence

ENSEMBL: ENSMUSP00000136507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045078] [ENSMUST00000055028] [ENSMUST00000107817] [ENSMUST00000131991] [ENSMUST00000151148] [ENSMUST00000180217]

AlphaFold

Q7TQG0

Predicted Effect

probably benign
Transcript: ENSMUST00000045078

SMART Domains

Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	9	327	1.4e-28	PFAM
Pfam:2-Hacid_dh_C	116	295	1.3e-59	PFAM
Pfam:NAD_binding_2	153	272	3.4e-8	PFAM
Pfam:F420_oxidored	155	244	3.2e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000055028
AA Change: Y529N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: Y529N

Domain	Start	End	E-Value	Type
BTB	24	123	1.06e-28	SMART
low complexity region	149	163	N/A	INTRINSIC
low complexity region	345	361	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
low complexity region	544	554	N/A	INTRINSIC
ZnF_C2H2	606	628	1.16e-1	SMART
ZnF_C2H2	634	654	2.47e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107817
AA Change: Y529N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: Y529N

Domain	Start	End	E-Value	Type
BTB	24	123	1.06e-28	SMART
low complexity region	149	163	N/A	INTRINSIC
low complexity region	345	361	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
low complexity region	544	554	N/A	INTRINSIC
ZnF_C2H2	606	628	1.16e-1	SMART
ZnF_C2H2	634	654	2.47e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131991

SMART Domains

Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657

Domain	Start	End	E-Value	Type
BTB	24	123	1.06e-28	SMART
low complexity region	149	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151148

SMART Domains

Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637

Domain	Start	End	E-Value	Type
Pfam:2-Hacid_dh	10	207	4.5e-15	PFAM
Pfam:2-Hacid_dh_C	63	222	2.2e-51	PFAM
Pfam:NAD_binding_2	100	219	3.3e-9	PFAM
Pfam:F420_oxidored	102	191	5.4e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180217
AA Change: Y529N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: Y529N

Domain	Start	End	E-Value	Type
BTB	24	123	1.06e-28	SMART
low complexity region	149	163	N/A	INTRINSIC
low complexity region	345	361	N/A	INTRINSIC
low complexity region	369	380	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
low complexity region	544	554	N/A	INTRINSIC
ZnF_C2H2	606	628	1.16e-1	SMART
ZnF_C2H2	634	654	2.47e1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 25,388,612 (GRCm39)	S364N	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
App	T	C	16: 84,752,305 (GRCm39)	T743A	probably damaging	Het
Armc3	A	G	2: 19,305,317 (GRCm39)	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,014,729 (GRCm39)	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,528,367 (GRCm39)	V297I	probably damaging	Het
Bpi	A	G	2: 158,109,651 (GRCm39)	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,248,831 (GRCm39)		probably benign	Het
Cbarp	A	G	10: 79,971,379 (GRCm39)	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,241,160 (GRCm39)	N78S	unknown	Het
Cdcp1	G	T	9: 123,002,702 (GRCm39)	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,200,439 (GRCm39)	I111F	probably benign	Het
Ctsr	A	G	13: 61,310,992 (GRCm39)	V18A	probably benign	Het
Dapk1	A	G	13: 60,844,161 (GRCm39)	D60G	probably damaging	Het
Daw1	A	C	1: 83,186,949 (GRCm39)	N253T	probably benign	Het
Dcaf7	T	A	11: 105,942,698 (GRCm39)	I215N	probably damaging	Het
Ddc	A	C	11: 11,779,125 (GRCm39)	L333R	probably damaging	Het
Dennd1a	A	G	2: 37,742,406 (GRCm39)		probably null	Het
Dnah10	C	A	5: 124,864,395 (GRCm39)	T2200K	probably damaging	Het
Dock6	T	C	9: 21,713,881 (GRCm39)	Y1883C	probably damaging	Het
Ecpas	T	C	4: 58,877,102 (GRCm39)	E111G	probably damaging	Het
Eif2ak4	T	A	2: 118,266,735 (GRCm39)	I752N	probably damaging	Het
Fcho2	A	G	13: 98,866,720 (GRCm39)	I740T	probably benign	Het
Flnc	A	G	6: 29,450,840 (GRCm39)	D1496G	probably damaging	Het
Fn1	A	G	1: 71,676,482 (GRCm39)	V583A	possibly damaging	Het
Greb1l	A	C	18: 10,537,064 (GRCm39)	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,977,105 (GRCm39)	L195P	probably damaging	Het
Hyi	A	G	4: 118,219,680 (GRCm39)	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,574,818 (GRCm39)	Y112*	probably null	Het
Ints3	A	G	3: 90,310,415 (GRCm39)	F495S	probably damaging	Het
Itih2	T	A	2: 10,102,728 (GRCm39)	H802L	probably benign	Het
Jag2	C	T	12: 112,874,186 (GRCm39)	V990M	probably damaging	Het
Kat6b	T	C	14: 21,659,936 (GRCm39)		probably benign	Het
Krtap4-8	C	T	11: 99,671,168 (GRCm39)		probably benign	Het
Lhx4	A	G	1: 155,578,003 (GRCm39)	S380P	probably damaging	Het
Morn3	C	A	5: 123,175,363 (GRCm39)	E33*	probably null	Het
Mug2	C	T	6: 122,047,802 (GRCm39)	A771V	probably damaging	Het
N4bp3	A	T	11: 51,535,161 (GRCm39)	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,005,286 (GRCm39)	N643S	probably damaging	Het
Or2c1	A	C	16: 3,657,200 (GRCm39)	D121A	probably damaging	Het
Or2h1b	T	A	17: 37,462,163 (GRCm39)	R79S	possibly damaging	Het
Or6c8	T	A	10: 128,915,662 (GRCm39)	M57L	possibly damaging	Het
Phc3	A	G	3: 31,002,942 (GRCm39)	F192S	probably damaging	Het
Pigq	C	T	17: 26,156,221 (GRCm39)	R69H	probably benign	Het
Plk3	A	G	4: 116,989,186 (GRCm39)	C222R	probably damaging	Het
Pomt2	T	C	12: 87,166,420 (GRCm39)	T490A	probably benign	Het
Prss29	T	C	17: 25,539,875 (GRCm39)	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,307,735 (GRCm39)		probably benign	Het
Sccpdh	G	A	1: 179,509,256 (GRCm39)	G75D	probably damaging	Het
Serpine2	T	C	1: 79,772,714 (GRCm39)		probably benign	Het
Sfr1	T	G	19: 47,721,429 (GRCm39)		probably null	Het
Slc22a23	C	A	13: 34,387,938 (GRCm39)	C386F	probably benign	Het
Slc22a27	T	C	19: 7,842,176 (GRCm39)	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,405,146 (GRCm39)	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,533,313 (GRCm39)	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,398,238 (GRCm39)	N668D	probably damaging	Het
Supt16	A	T	14: 52,421,421 (GRCm39)	D41E	possibly damaging	Het
Tamalin	G	A	15: 101,126,932 (GRCm39)	V137I	probably damaging	Het
Ugt2b37	A	G	5: 87,388,741 (GRCm39)	S491P	probably damaging	Het
Urb1	G	T	16: 90,569,583 (GRCm39)	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,584,094 (GRCm39)	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,363,710 (GRCm39)	I15F	probably benign	Het
Zfp541	T	A	7: 15,816,918 (GRCm39)		probably null	Het

Other mutations in Zbtb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Zbtb5	APN	4	44,995,294 (GRCm39)	missense	probably damaging	1.00
IGL02525:Zbtb5	APN	4	44,994,731 (GRCm39)	missense	probably benign
IGL03172:Zbtb5	APN	4	44,994,003 (GRCm39)	missense	possibly damaging	0.76
IGL03205:Zbtb5	APN	4	44,994,949 (GRCm39)	missense	probably damaging	0.96
madeleine	UTSW	4	44,994,863 (GRCm39)	splice site	probably null
R0681:Zbtb5	UTSW	4	44,993,787 (GRCm39)	missense	probably damaging	1.00
R1426:Zbtb5	UTSW	4	44,993,968 (GRCm39)	missense	possibly damaging	0.95
R1577:Zbtb5	UTSW	4	44,995,129 (GRCm39)	missense	probably damaging	1.00
R1608:Zbtb5	UTSW	4	44,993,500 (GRCm39)	missense	probably damaging	1.00
R1817:Zbtb5	UTSW	4	44,993,767 (GRCm39)	missense	probably benign	0.20
R2919:Zbtb5	UTSW	4	44,994,790 (GRCm39)	missense	probably damaging	1.00
R3722:Zbtb5	UTSW	4	44,994,863 (GRCm39)	splice site	probably null
R4222:Zbtb5	UTSW	4	44,993,855 (GRCm39)	splice site	probably null
R5217:Zbtb5	UTSW	4	44,993,990 (GRCm39)	missense	probably benign
R5326:Zbtb5	UTSW	4	44,995,052 (GRCm39)	missense	probably damaging	1.00
R5493:Zbtb5	UTSW	4	44,993,941 (GRCm39)	missense	probably benign	0.04
R5542:Zbtb5	UTSW	4	44,995,052 (GRCm39)	missense	probably damaging	1.00
R5912:Zbtb5	UTSW	4	44,993,750 (GRCm39)	missense	probably benign	0.00
R6171:Zbtb5	UTSW	4	44,994,119 (GRCm39)	missense	probably benign	0.00
R6337:Zbtb5	UTSW	4	44,993,459 (GRCm39)	missense	probably damaging	1.00
R6566:Zbtb5	UTSW	4	44,994,508 (GRCm39)	missense	probably damaging	1.00
R7481:Zbtb5	UTSW	4	44,994,905 (GRCm39)	missense	probably benign	0.27
R7534:Zbtb5	UTSW	4	44,995,030 (GRCm39)	missense	probably damaging	1.00
R7548:Zbtb5	UTSW	4	44,994,724 (GRCm39)	missense	probably benign	0.18
R7557:Zbtb5	UTSW	4	44,995,196 (GRCm39)	missense	probably damaging	1.00
R7584:Zbtb5	UTSW	4	44,993,678 (GRCm39)	missense	probably benign
R7831:Zbtb5	UTSW	4	44,995,244 (GRCm39)	missense	probably damaging	1.00
R8065:Zbtb5	UTSW	4	44,994,972 (GRCm39)	missense	probably benign	0.25
R8067:Zbtb5	UTSW	4	44,994,972 (GRCm39)	missense	probably benign	0.25
R8491:Zbtb5	UTSW	4	44,995,090 (GRCm39)	missense	probably damaging	1.00
R8932:Zbtb5	UTSW	4	44,993,962 (GRCm39)	missense	probably benign
R9509:Zbtb5	UTSW	4	44,994,332 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16