Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Zbtb5'

176612

Institutional Source

Beutler Lab

Gene Symbol

Zbtb5

Ensembl Gene

ENSMUSG00000049657

Gene Name

zinc finger and BTB domain containing 5

Synonyms

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44991242-45012412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44993500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 628 (H628R)

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: H628R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: H628R

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: H628R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: H628R

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: H628R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: H628R

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

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,902,479	S797P	probably damaging	Het
Akap9	T	C	5: 3,961,783	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,372,093	D74G	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,571	E29G	probably damaging	Het
B3gat1	T	C	9: 26,751,816	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 122,647,709	V99D	probably damaging	Het
Celsr2	C	T	3: 108,402,483	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,859,066	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,852,434	M3L	probably benign	Het
Dnah12	C	T	14: 26,766,190	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,599,167	D86V	probably damaging	Het
Evx2	T	G	2: 74,657,851	K208N	probably damaging	Het
F13a1	A	G	13: 36,868,811	V718A	probably damaging	Het
Fcho2	T	C	13: 98,726,198	D757G	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Fryl	C	T	5: 73,074,751	W424*	probably null	Het
Gata3	G	T	2: 9,874,768	Y97*	probably null	Het
Gm15446	T	A	5: 109,942,457	C192S	probably damaging	Het
Hdac10	A	T	15: 89,125,318	D470E	probably benign	Het
Ier2	A	G	8: 84,662,426	L109P	probably benign	Het
Kcnh2	T	C	5: 24,322,219	T559A	probably benign	Het
Khk	C	T	5: 30,930,594	A204V	probably damaging	Het
Kndc1	T	A	7: 139,927,408	M1169K	possibly damaging	Het
Krtap31-1	A	G	11: 99,908,093	S41G	probably benign	Het
Nabp1	T	C	1: 51,473,003		probably null	Het
Nphp3	A	G	9: 104,035,840	D939G	probably benign	Het
Olfr513	A	T	7: 108,755,102	N82I	probably damaging	Het
Plcg2	T	C	8: 117,614,235	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,262,575	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,669,129	D168G	probably benign	Het
Shisa8	G	A	15: 82,208,555	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,354,779	V89A	probably benign	Het
Slc40a1	C	T	1: 45,911,297	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,497,847	Y373*	probably null	Het
Slf2	T	C	19: 44,949,001	V722A	probably benign	Het
Spanxn4	A	G	12: 62,687,838		noncoding transcript	Het
Stag3	T	A	5: 138,298,639		probably null	Het
Tanc1	T	C	2: 59,797,694	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,685,781	M286L	probably benign	Het
Top1	T	A	2: 160,703,595	N294K	probably benign	Het
Tpr	T	G	1: 150,426,893	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,326,432	S126A	probably benign	Het
Ttc41	A	G	10: 86,775,993	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,597,456	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,446,980	V57A	possibly damaging	Het
Zfp810	T	C	9: 22,278,920	I231V	probably benign	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
R1426:Zbtb5	UTSW	4	44993968	missense	possibly damaging	0.95
R1577:Zbtb5	UTSW	4	44995129	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
R8491:Zbtb5	UTSW	4	44995090	missense	probably damaging	1.00
R8932:Zbtb5	UTSW	4	44993962	missense	probably benign
R9509:Zbtb5	UTSW	4	44994332	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCTGCCTACAGCGGTTTTAGTTTC -3'
(R):5'- TTCAGCCAGTTCCCAGCTAATGATG -3'

Sequencing Primer
(F):5'- AGTTTCAGTGCAGACTGGC -3'
(R):5'- TTCCCAGCTAATGATGAACGG -3'

Posted On

2014-04-24