Mutagenetix > Incidental Mutations

Incidental Mutation 'R1426:Zbtb5'

162241

Institutional Source

Beutler Lab

Gene Symbol

Zbtb5

Ensembl Gene

ENSMUSG00000049657

Gene Name

zinc finger and BTB domain containing 5

Synonyms

MMRRC Submission

039482-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44991242-45012412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44993968 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 472 (H472R)

Ref Sequence

ENSEMBL: ENSMUSP00000136507 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000055028
AA Change: H472R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: H472R

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

possibly damaging
Transcript: ENSMUST00000107817
AA Change: H472R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: H472R

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

possibly damaging
Transcript: ENSMUST00000180217
AA Change: H472R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: H472R

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

Meta Mutation Damage Score

0.0599

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.1%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,324,435	V214E	probably damaging	Het
Adh1	A	G	3: 138,286,795	D224G	probably damaging	Het
Arhgap28	C	A	17: 67,857,464	Q554H	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Brat1	G	A	5: 140,718,013	V674I	probably benign	Het
Brd2	ATCTTCTTC	ATCTTC	17: 34,114,007		probably benign	Het
Ccdc162	T	C	10: 41,553,182	D438G	possibly damaging	Het
Cyp4x1	T	A	4: 115,112,791		probably benign	Het
Dip2a	T	C	10: 76,279,820		probably benign	Het
Eif2s1	A	G	12: 78,881,168	D206G	probably benign	Het
Elovl7	T	A	13: 108,282,494	I220N	possibly damaging	Het
Gsto1	A	G	19: 47,857,942	E76G	probably damaging	Het
Hspa14	A	T	2: 3,508,821	W12R	probably damaging	Het
L3mbtl2	T	A	15: 81,676,317	C260S	possibly damaging	Het
Lama3	G	T	18: 12,481,098		probably null	Het
Lrrc34	T	A	3: 30,643,579		probably benign	Het
Lrrc45	A	T	11: 120,720,013	Q525L	probably benign	Het
Lss	T	C	10: 76,536,303	I164T	probably damaging	Het
Myh11	T	A	16: 14,205,931	K1527*	probably null	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Ncoa1	T	A	12: 4,270,737		probably benign	Het
Olfr262	G	T	19: 12,241,182	Q160K	possibly damaging	Het
Olfr768	A	T	10: 129,093,690	C95S	probably damaging	Het
Pafah1b3	T	C	7: 25,297,135	E41G	possibly damaging	Het
Pnmal1	C	T	7: 16,960,984	P255S	possibly damaging	Het
Prkar2b	A	T	12: 31,962,988		probably benign	Het
Rbck1	A	T	2: 152,327,241		probably benign	Het
Rcor2	A	G	19: 7,271,030	S137G	possibly damaging	Het
Slc25a48	T	A	13: 56,448,991		probably benign	Het
Slc7a4	A	G	16: 17,573,944		probably null	Het
Tert	T	C	13: 73,642,353		probably benign	Het
Traf7	A	T	17: 24,511,681	I344N	probably damaging	Het
Vmn1r194	T	A	13: 22,245,066	F284L	probably damaging	Het
Xpc	A	G	6: 91,493,238	M699T	probably damaging	Het
Zfp786	A	G	6: 47,825,079	V88A	probably benign	Het
Zkscan7	T	C	9: 122,895,163	I399T	probably benign	Het
Zyg11b	G	A	4: 108,250,812	R466C	probably damaging	Het

Other mutations in Zbtb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Zbtb5	APN	4	44995294	missense	probably damaging	1.00
IGL02516:Zbtb5	APN	4	44993798	missense	probably damaging	0.96
IGL02525:Zbtb5	APN	4	44994731	missense	probably benign
IGL03172:Zbtb5	APN	4	44994003	missense	possibly damaging	0.76
IGL03205:Zbtb5	APN	4	44994949	missense	probably damaging	0.96
madeleine	UTSW	4	44994863	splice site	probably null
R0681:Zbtb5	UTSW	4	44993787	missense	probably damaging	1.00
R1577:Zbtb5	UTSW	4	44995129	missense	probably damaging	1.00
R1608:Zbtb5	UTSW	4	44993500	missense	probably damaging	1.00
R1817:Zbtb5	UTSW	4	44993767	missense	probably benign	0.20
R2919:Zbtb5	UTSW	4	44994790	missense	probably damaging	1.00
R3722:Zbtb5	UTSW	4	44994863	splice site	probably null
R4222:Zbtb5	UTSW	4	44993855	splice site	probably null
R5217:Zbtb5	UTSW	4	44993990	missense	probably benign
R5326:Zbtb5	UTSW	4	44995052	missense	probably damaging	1.00
R5493:Zbtb5	UTSW	4	44993941	missense	probably benign	0.04
R5542:Zbtb5	UTSW	4	44995052	missense	probably damaging	1.00
R5912:Zbtb5	UTSW	4	44993750	missense	probably benign	0.00
R6171:Zbtb5	UTSW	4	44994119	missense	probably benign	0.00
R6337:Zbtb5	UTSW	4	44993459	missense	probably damaging	1.00
R6566:Zbtb5	UTSW	4	44994508	missense	probably damaging	1.00
R7481:Zbtb5	UTSW	4	44994905	missense	probably benign	0.27
R7534:Zbtb5	UTSW	4	44995030	missense	probably damaging	1.00
R7548:Zbtb5	UTSW	4	44994724	missense	probably benign	0.18
R7557:Zbtb5	UTSW	4	44995196	missense	probably damaging	1.00
R7584:Zbtb5	UTSW	4	44993678	missense	probably benign
R7831:Zbtb5	UTSW	4	44995244	missense	probably damaging	1.00
R8065:Zbtb5	UTSW	4	44994972	missense	probably benign	0.25
R8067:Zbtb5	UTSW	4	44994972	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATGGAAAGTTACTGGCCCCTCCTC -3'
(R):5'- GGACATCCACATCTTGGAAGTCACG -3'

Sequencing Primer
(F):5'- TGTTCTCCTTGGTAGCCTGA -3'
(R):5'- CAATTTTCTCAACAAGAGCAGGG -3'

Posted On

2014-03-14