Mutagenetix > Incidental Mutation

Incidental Mutation 'R3407:Zbtb10'

258303

Institutional Source

Beutler Lab

Gene Symbol

Zbtb10

Ensembl Gene

ENSMUSG00000069114

Gene Name

zinc finger and BTB domain containing 10

Synonyms

MMRRC Submission

040625-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

R3407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9315662-9350393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9329926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 428 (N428S)

Ref Sequence

ENSEMBL: ENSMUSP00000119386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000155203]

AlphaFold

E9Q8X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000155203
AA Change: N428S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119386
Gene: ENSMUSG00000069114
AA Change: N428S

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
low complexity region	38	54	N/A	INTRINSIC
low complexity region	75	82	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
low complexity region	180	222	N/A	INTRINSIC
ZnF_TTF	239	321	7.92e-2	SMART
BTB	357	456	4.02e-20	SMART
internal_repeat_1	648	671	2.82e-12	PROSPERO
internal_repeat_1	672	695	2.82e-12	PROSPERO
ZnF_C2H2	714	736	6.78e-3	SMART
ZnF_C2H2	742	764	2.09e-3	SMART
low complexity region	765	777	N/A	INTRINSIC
low complexity region	823	842	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Agbl2	G	A	2: 90,621,962 (GRCm39)	V150I	probably damaging	Het
Ambra1	T	C	2: 91,740,652 (GRCm39)	S924P	probably damaging	Het
Arfgap3	T	C	15: 83,206,808 (GRCm39)	D260G	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Bag3	TAAAG	TAAAGAAAG	7: 128,147,492 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Carm1	C	T	9: 21,497,478 (GRCm39)	R347W	probably damaging	Het
Ccdc30	A	T	4: 119,181,778 (GRCm39)	F577I	possibly damaging	Het
Ces3a	T	A	8: 105,777,199 (GRCm39)	V174E	probably damaging	Het
Cobl	T	C	11: 12,325,830 (GRCm39)	Y215C	probably damaging	Het
Cybrd1	A	T	2: 70,948,470 (GRCm39)	M3L	probably damaging	Het
Dis3	A	G	14: 99,336,212 (GRCm39)	V98A	probably benign	Het
Dsg1c	G	A	18: 20,415,115 (GRCm39)		probably null	Het
Eif4a1	A	T	11: 69,561,089 (GRCm39)	V72E	probably damaging	Het
Fmn1	A	T	2: 113,195,400 (GRCm39)	I367F	unknown	Het
Fnbp1l	A	C	3: 122,345,799 (GRCm39)	W229G	probably damaging	Het
Inka1	C	T	9: 107,862,253 (GRCm39)	R23Q	probably damaging	Het
Ints6	A	T	14: 62,934,386 (GRCm39)	I707K	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Kif20b	T	C	19: 34,927,900 (GRCm39)	L1014P	probably damaging	Het
Kif9	T	C	9: 110,348,208 (GRCm39)	L677P	probably damaging	Het
Mbd1	A	G	18: 74,410,438 (GRCm39)	K414E	possibly damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mthfr	T	C	4: 148,139,518 (GRCm39)	I66T	probably damaging	Het
Myh10	T	G	11: 68,681,037 (GRCm39)	L989R	possibly damaging	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Or10ag53	A	C	2: 87,083,243 (GRCm39)	T321P	probably benign	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Pate2	C	T	9: 35,582,262 (GRCm39)	T80I	probably damaging	Het
Pcdhb15	A	G	18: 37,607,442 (GRCm39)	T225A	possibly damaging	Het
Pde4dip	C	A	3: 97,661,784 (GRCm39)	L640F	probably damaging	Het
Plch1	A	G	3: 63,606,768 (GRCm39)		probably benign	Het
Pus3	C	T	9: 35,478,021 (GRCm39)	R418C	probably damaging	Het
Sall2	G	T	14: 52,565,561 (GRCm39)	N24K	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Smco3	A	G	6: 136,808,425 (GRCm39)	S150P	probably benign	Het
Spag17	G	T	3: 99,992,615 (GRCm39)	A1704S	probably benign	Het
Tecta	A	T	9: 42,249,150 (GRCm39)	I1904N	probably damaging	Het
Ttn	T	A	2: 76,536,281 (GRCm39)	K33280*	probably null	Het
Uggt2	T	C	14: 119,328,682 (GRCm39)	D90G	probably benign	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Zfp407	G	A	18: 84,576,997 (GRCm39)	A1372V	probably benign	Het

Other mutations in Zbtb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02174:Zbtb10	APN	3	9,316,872 (GRCm39)	missense	probably damaging	0.96
IGL02207:Zbtb10	APN	3	9,345,525 (GRCm39)	critical splice donor site	probably null
IGL02499:Zbtb10	APN	3	9,316,800 (GRCm39)	missense	probably damaging	1.00
IGL02506:Zbtb10	APN	3	9,330,297 (GRCm39)	missense	probably damaging	0.99
IGL03294:Zbtb10	APN	3	9,346,047 (GRCm39)	missense	probably benign	0.18
R0510:Zbtb10	UTSW	3	9,329,728 (GRCm39)	missense	probably damaging	1.00
R1859:Zbtb10	UTSW	3	9,345,446 (GRCm39)	missense	possibly damaging	0.47
R2342:Zbtb10	UTSW	3	9,330,255 (GRCm39)	missense	possibly damaging	0.60
R4161:Zbtb10	UTSW	3	9,345,356 (GRCm39)	missense	probably damaging	1.00
R4301:Zbtb10	UTSW	3	9,330,220 (GRCm39)	missense	probably damaging	0.96
R4698:Zbtb10	UTSW	3	9,329,610 (GRCm39)	missense	possibly damaging	0.87
R5184:Zbtb10	UTSW	3	9,329,731 (GRCm39)	missense	probably damaging	0.99
R5443:Zbtb10	UTSW	3	9,345,108 (GRCm39)	missense	probably benign
R5665:Zbtb10	UTSW	3	9,330,252 (GRCm39)	missense	probably damaging	0.99
R5744:Zbtb10	UTSW	3	9,329,623 (GRCm39)	missense	probably damaging	1.00
R5862:Zbtb10	UTSW	3	9,330,276 (GRCm39)	missense	probably damaging	0.98
R5909:Zbtb10	UTSW	3	9,345,109 (GRCm39)	missense	probably benign	0.14
R6547:Zbtb10	UTSW	3	9,316,763 (GRCm39)	missense	probably benign	0.38
R6612:Zbtb10	UTSW	3	9,317,125 (GRCm39)	missense	possibly damaging	0.87
R7457:Zbtb10	UTSW	3	9,316,538 (GRCm39)	missense	possibly damaging	0.77
R8985:Zbtb10	UTSW	3	9,345,807 (GRCm39)	missense	probably damaging	1.00
R9191:Zbtb10	UTSW	3	9,330,295 (GRCm39)	missense	probably damaging	0.98
R9472:Zbtb10	UTSW	3	9,343,355 (GRCm39)	missense	probably benign	0.25
R9616:Zbtb10	UTSW	3	9,316,473 (GRCm39)	missense	probably benign	0.01
Z1177:Zbtb10	UTSW	3	9,343,391 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGTGGTGAGCGGGAAAATC -3'
(R):5'- AGCTGGCGATCTTCTGTTCC -3'

Sequencing Primer
(F):5'- TGAGCGGGAAAATCTTTAAAGCTC -3'
(R):5'- GCGATCTTCTGTTCCCGTGAG -3'

Posted On

2015-01-23