Mutagenetix > Incidental Mutations

Incidental Mutation 'R6547:Zbtb10'

521250

Institutional Source

Beutler Lab

Gene Symbol

Zbtb10

Ensembl Gene

ENSMUSG00000069114

Gene Name

zinc finger and BTB domain containing 10

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R6547 (G1)

Quality Score

181.009

Status

Validated

Chromosome

Chromosomal Location

9250602-9285333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9251703 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 192 (A192T)

Ref Sequence

ENSEMBL: ENSMUSP00000119386 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155203
AA Change: A192T

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119386
Gene: ENSMUSG00000069114
AA Change: A192T

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

Meta Mutation Damage Score

0.0782

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,659,907		probably benign	Het
9230113P08Rik	T	A	9: 35,908,485	M15K	probably null	Het
Abca13	T	A	11: 9,274,757	V490E	probably benign	Het
Abca2	G	T	2: 25,433,338	G106V	possibly damaging	Het
Ablim3	T	C	18: 61,823,929	T276A	probably benign	Het
Anxa7	A	G	14: 20,469,393	V119A	probably benign	Het
Arl9	A	G	5: 77,010,410		probably null	Het
Atm	T	C	9: 53,440,157	Y2964C	probably damaging	Het
Bbs9	T	C	9: 22,514,069	Y140H	probably benign	Het
Calcr	A	T	6: 3,717,177	D94E	probably damaging	Het
Celsr3	T	A	9: 108,829,128	Y937N	probably damaging	Het
Clca3a1	C	T	3: 144,736,947	A779T	probably damaging	Het
Clec9a	T	A	6: 129,416,376	V94D	probably benign	Het
Colec12	G	T	18: 9,840,351	L57F	probably damaging	Het
Fa2h	T	C	8: 111,348,020	Y317C	probably damaging	Het
Fam126a	T	C	5: 23,965,100	N417S	probably benign	Het
Flnc	A	G	6: 29,448,608	T1282A	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803		probably null	Het
Hcn2	G	T	10: 79,717,152	V162L	probably benign	Het
Kbtbd11	T	A	8: 15,027,641	V80E	possibly damaging	Het
Lama4	A	G	10: 39,073,656	D915G	probably damaging	Het
Limch1	A	T	5: 67,028,774	E806V	probably damaging	Het
Mppe1	T	C	18: 67,228,988	I169V	probably benign	Het
Msc	A	C	1: 14,755,745	S2A	possibly damaging	Het
Nploc4	A	G	11: 120,428,522		probably null	Het
Nr3c2	A	T	8: 76,908,809	I180F	possibly damaging	Het
Nrap	G	T	19: 56,351,566	H840N	probably benign	Het
Olfr151	T	A	9: 37,730,495	M163L	probably benign	Het
Pdlim1	G	A	19: 40,223,120	T243I	probably damaging	Het
Pfkl	T	A	10: 77,995,354	M318L	probably benign	Het
Rap1gds1	C	A	3: 138,955,338	R426L	probably damaging	Het
Ric1	A	G	19: 29,594,826	N674D	probably damaging	Het
Rp1	G	A	1: 4,170,305	T875I	unknown	Het
Rtn1	G	T	12: 72,308,761	S137Y	possibly damaging	Het
Scn2a	A	G	2: 65,715,897	I935V	probably benign	Het
Serpina1a	C	T	12: 103,855,921	V251M	probably damaging	Het
Slc19a3	A	G	1: 83,022,900	V132A	probably damaging	Het
Slc26a6	T	A	9: 108,860,782		probably null	Het
Slc2a5	T	A	4: 150,135,619	V164D	possibly damaging	Het
Slc4a1	T	A	11: 102,356,735	T441S	probably damaging	Het
Stk33	T	C	7: 109,320,835	I366V	possibly damaging	Het
Syt14	G	T	1: 192,901,869	H696N	possibly damaging	Het
Tcaim	T	A	9: 122,814,466	V77D	probably benign	Het
Tefm	T	G	11: 80,140,384		probably null	Het
Tekt3	T	A	11: 63,070,478	S158T	possibly damaging	Het
Tmem2	A	T	19: 21,844,831	T1197S	probably benign	Het
Tspan11	T	A	6: 127,949,803	M238K	possibly damaging	Het
Unc5c	A	T	3: 141,790,019	T476S	probably benign	Het
Usp9y	A	T	Y: 1,444,612	L109Q	probably damaging	Homo
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vps13c	C	A	9: 67,973,365	Q3495K	probably damaging	Het
Zfp316	A	T	5: 143,254,197	V689D	probably damaging	Het
Zswim1	A	G	2: 164,824,796		probably benign	Het
Zswim5	T	C	4: 116,986,903	L1046P	probably damaging	Het

Other mutations in Zbtb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02174:Zbtb10	APN	3	9251812	missense	probably damaging	0.96
IGL02207:Zbtb10	APN	3	9280465	critical splice donor site	probably null
IGL02499:Zbtb10	APN	3	9251740	missense	probably damaging	1.00
IGL02506:Zbtb10	APN	3	9265237	missense	probably damaging	0.99
IGL03294:Zbtb10	APN	3	9280987	missense	probably benign	0.18
R0510:Zbtb10	UTSW	3	9264668	missense	probably damaging	1.00
R1859:Zbtb10	UTSW	3	9280386	missense	possibly damaging	0.47
R2342:Zbtb10	UTSW	3	9265195	missense	possibly damaging	0.60
R3407:Zbtb10	UTSW	3	9264866	missense	probably damaging	1.00
R4161:Zbtb10	UTSW	3	9280296	missense	probably damaging	1.00
R4301:Zbtb10	UTSW	3	9265160	missense	probably damaging	0.96
R4698:Zbtb10	UTSW	3	9264550	missense	possibly damaging	0.87
R5184:Zbtb10	UTSW	3	9264671	missense	probably damaging	0.99
R5443:Zbtb10	UTSW	3	9280048	missense	probably benign
R5665:Zbtb10	UTSW	3	9265192	missense	probably damaging	0.99
R5744:Zbtb10	UTSW	3	9264563	missense	probably damaging	1.00
R5862:Zbtb10	UTSW	3	9265216	missense	probably damaging	0.98
R5909:Zbtb10	UTSW	3	9280049	missense	probably benign	0.14
R6612:Zbtb10	UTSW	3	9252065	missense	possibly damaging	0.87
R7457:Zbtb10	UTSW	3	9251478	missense	possibly damaging	0.77
Z1177:Zbtb10	UTSW	3	9278331	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAGGAACCGTCGGACTCTG -3'
(R):5'- GAAGTCCTTGAGCCAAGAGGTC -3'

Sequencing Primer
(F):5'- GGGTCTCGGCAACAATGG -3'
(R):5'- CTGGAAGGAGCACTGGAGCTTC -3'

Posted On

2018-06-06