Mutagenetix > Incidental Mutation

Incidental Mutation 'R0655:Zbtb9'

62521

Institutional Source

Beutler Lab

Gene Symbol

Zbtb9

Ensembl Gene

ENSMUSG00000079605

Gene Name

zinc finger and BTB domain containing 9

Synonyms

3930402F13Rik

MMRRC Submission

038840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R0655 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

27192153-27195177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27193074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 160 (S160T)

Ref Sequence

ENSEMBL: ENSMUSP00000112778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081285] [ENSMUST00000120016] [ENSMUST00000133257] [ENSMUST00000177932] [ENSMUST00000194598] [ENSMUST00000229490] [ENSMUST00000231853] [ENSMUST00000228963] [ENSMUST00000201702]

AlphaFold

Q8CDC7

Predicted Effect

probably benign
Transcript: ENSMUST00000081285

SMART Domains

Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
PH	27	253	3.23e-8	SMART
C2	263	362	7.4e-10	SMART
RasGAP	392	729	3.33e-118	SMART
low complexity region	787	803	N/A	INTRINSIC
low complexity region	938	973	N/A	INTRINSIC
low complexity region	1040	1068	N/A	INTRINSIC
low complexity region	1110	1125	N/A	INTRINSIC
coiled coil region	1186	1259	N/A	INTRINSIC
low complexity region	1308	1326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120016
AA Change: S160T

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

SMART Domains

Protein: ENSMUSP00000112778
Gene: ENSMUSG00000079605
AA Change: S160T

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
BTB	48	142	4.08e-21	SMART
low complexity region	144	164	N/A	INTRINSIC
low complexity region	315	328	N/A	INTRINSIC
ZnF_C2H2	397	419	1.36e-2	SMART
ZnF_C2H2	424	444	4.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133257

SMART Domains

Protein: ENSMUSP00000115777
Gene: ENSMUSG00000048731

Domain	Start	End	E-Value	Type
low complexity region	144	157	N/A	INTRINSIC
internal_repeat_1	264	280	1.14e-6	PROSPERO
Pfam:Ubiquitin_3	281	368	1.5e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177932

SMART Domains

Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
PH	27	253	3.23e-8	SMART
C2	263	362	7.4e-10	SMART
RasGAP	392	729	3.33e-118	SMART
low complexity region	787	803	N/A	INTRINSIC
low complexity region	938	973	N/A	INTRINSIC
low complexity region	1040	1068	N/A	INTRINSIC
low complexity region	1110	1125	N/A	INTRINSIC
coiled coil region	1186	1259	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193200

SMART Domains

Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
PH	12	238	1.5e-10	SMART
C2	248	347	4.8e-12	SMART
RasGAP	377	714	2.1e-120	SMART
low complexity region	772	788	N/A	INTRINSIC
low complexity region	923	958	N/A	INTRINSIC
low complexity region	1025	1053	N/A	INTRINSIC
low complexity region	1095	1110	N/A	INTRINSIC
coiled coil region	1171	1244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194598

SMART Domains

Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
PH	27	253	3.23e-8	SMART
C2	263	362	7.4e-10	SMART
RasGAP	392	729	3.33e-118	SMART
low complexity region	787	803	N/A	INTRINSIC
low complexity region	938	973	N/A	INTRINSIC
low complexity region	1040	1068	N/A	INTRINSIC
low complexity region	1110	1125	N/A	INTRINSIC
coiled coil region	1186	1259	N/A	INTRINSIC
low complexity region	1308	1326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201186

Predicted Effect

probably benign
Transcript: ENSMUST00000229490

Predicted Effect

probably benign
Transcript: ENSMUST00000231853

Predicted Effect

probably benign
Transcript: ENSMUST00000228963

Predicted Effect

probably benign
Transcript: ENSMUST00000202208

Predicted Effect

probably benign
Transcript: ENSMUST00000202049

Predicted Effect

probably benign
Transcript: ENSMUST00000201349

SMART Domains

Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
RasGAP	9	346	2.2e-120	SMART
low complexity region	404	420	N/A	INTRINSIC
low complexity region	555	590	N/A	INTRINSIC
low complexity region	657	685	N/A	INTRINSIC
low complexity region	727	742	N/A	INTRINSIC
Blast:RasGAP	761	876	3e-21	BLAST
low complexity region	884	894	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201702

SMART Domains

Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629

Domain	Start	End	E-Value	Type
PH	27	253	1.5e-10	SMART
C2	263	362	4.9e-12	SMART
RasGAP	392	729	2.2e-120	SMART
low complexity region	773	789	N/A	INTRINSIC
low complexity region	924	959	N/A	INTRINSIC
low complexity region	1026	1054	N/A	INTRINSIC
low complexity region	1096	1111	N/A	INTRINSIC
coiled coil region	1171	1243	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	C	17: 36,268,737 (GRCm39)	I757M	probably benign	Het
Abtb3	A	G	10: 85,481,390 (GRCm39)	T931A	probably damaging	Het
Atg16l1	T	A	1: 87,694,551 (GRCm39)	I76N	probably damaging	Het
Baz1b	T	A	5: 135,271,284 (GRCm39)	I1289N	probably benign	Het
Bcl2l15	T	A	3: 103,740,285 (GRCm39)		probably null	Het
Cbl	G	T	9: 44,070,049 (GRCm39)	T566K	probably damaging	Het
Cd96	T	C	16: 45,919,482 (GRCm39)	K180E	probably benign	Het
Cpxm2	G	A	7: 131,656,549 (GRCm39)	T571I	possibly damaging	Het
Cyp2a12	A	T	7: 26,736,046 (GRCm39)	Y485F	probably benign	Het
Cyp4f17	T	A	17: 32,743,871 (GRCm39)	Y350N	possibly damaging	Het
Dstn	T	A	2: 143,780,342 (GRCm39)	I14N	probably damaging	Het
Eea1	A	G	10: 95,831,460 (GRCm39)	S184G	probably benign	Het
Eif1a	G	T	18: 46,741,130 (GRCm39)	G122C	probably damaging	Het
Esf1	T	A	2: 139,990,799 (GRCm39)	T562S	probably benign	Het
Fem1c	G	A	18: 46,638,227 (GRCm39)	R592C	probably benign	Het
Fig4	T	C	10: 41,161,673 (GRCm39)	N30S	probably damaging	Het
Gria2	C	A	3: 80,639,377 (GRCm39)	E212*	probably null	Het
Gsdmc2	C	T	15: 63,699,622 (GRCm39)	A269T	probably benign	Het
Herc4	T	C	10: 63,109,350 (GRCm39)	V195A	probably benign	Het
Hivep1	T	C	13: 42,321,061 (GRCm39)	S2123P	probably damaging	Het
Hspa4	T	C	11: 53,160,519 (GRCm39)	E519G	probably benign	Het
Htr2b	A	G	1: 86,038,565 (GRCm39)	S14P	probably benign	Het
Ifit1	T	C	19: 34,625,047 (GRCm39)	V61A	probably damaging	Het
Ifitm1	C	A	7: 140,549,449 (GRCm39)	F77L	probably benign	Het
Matn2	T	C	15: 34,345,346 (GRCm39)	S118P	probably benign	Het
Mtmr3	C	A	11: 4,438,610 (GRCm39)	D615Y	probably damaging	Het
Mtss1	C	A	15: 58,953,351 (GRCm39)	C9F	probably damaging	Het
Muc5b	A	T	7: 141,417,679 (GRCm39)	I3542F	probably benign	Het
Nwd2	T	C	5: 63,948,928 (GRCm39)	S167P	possibly damaging	Het
Or1e34	T	C	11: 73,778,631 (GRCm39)	D189G	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,632 (GRCm39)	F102Y	probably damaging	Het
Or8b54	C	T	9: 38,686,850 (GRCm39)	Q100*	probably null	Het
Oscp1	T	C	4: 125,952,526 (GRCm39)	L18P	probably damaging	Het
Pax5	A	G	4: 44,537,462 (GRCm39)	S297P	probably damaging	Het
Phldb3	A	T	7: 24,323,797 (GRCm39)	D476V	probably benign	Het
Phlpp2	A	T	8: 110,622,219 (GRCm39)	I154L	probably benign	Het
Prx	T	A	7: 27,216,846 (GRCm39)	V449E	probably damaging	Het
Psd3	A	G	8: 68,416,341 (GRCm39)	S519P	probably benign	Het
Rnf138	T	G	18: 21,143,840 (GRCm39)	V128G	probably benign	Het
Safb	T	A	17: 56,904,803 (GRCm39)	S209T	probably benign	Het
Sbno1	C	A	5: 124,514,212 (GRCm39)	V1327L	possibly damaging	Het
Scarb1	A	G	5: 125,377,504 (GRCm39)	V176A	probably damaging	Het
Scd4	A	G	19: 44,327,407 (GRCm39)	H161R	possibly damaging	Het
Selenoo	T	A	15: 88,979,858 (GRCm39)	H335Q	probably damaging	Het
Slfn8	A	G	11: 82,894,647 (GRCm39)	F664S	probably benign	Het
Spef2	T	C	15: 9,626,217 (GRCm39)	I1116M	possibly damaging	Het
Taf2	G	A	15: 54,901,690 (GRCm39)	R835W	probably damaging	Het
Tdrd9	A	G	12: 112,006,899 (GRCm39)	E921G	probably damaging	Het
Tectb	G	A	19: 55,178,302 (GRCm39)	G234S	possibly damaging	Het
Tmc1	C	T	19: 20,776,540 (GRCm39)	M606I	probably damaging	Het
Tmed10	T	A	12: 85,390,291 (GRCm39)	I88F	probably damaging	Het
Tnfrsf11a	G	A	1: 105,735,880 (GRCm39)	V31I	unknown	Het
Trp53inp2	G	T	2: 155,228,088 (GRCm39)	G98*	probably null	Het
Tssc4	A	G	7: 142,623,782 (GRCm39)	D30G	probably damaging	Het
Uaca	T	C	9: 60,779,311 (GRCm39)	Y1233H	probably benign	Het
Unc13c	G	A	9: 73,838,235 (GRCm39)	T872I	probably damaging	Het
Unc80	A	G	1: 66,542,940 (GRCm39)	H398R	probably damaging	Het
Vmn1r64	G	A	7: 5,887,207 (GRCm39)	T112I	probably benign	Het
Vmn1r85	A	G	7: 12,818,650 (GRCm39)	Y165H	probably damaging	Het
Vmn2r72	A	T	7: 85,387,319 (GRCm39)	C748*	probably null	Het
Wdr17	A	G	8: 55,102,233 (GRCm39)	W929R	probably damaging	Het
Yeats2	A	T	16: 20,012,574 (GRCm39)	K591*	probably null	Het
Znfx1	T	A	2: 166,898,827 (GRCm39)	R32S	probably damaging	Het
Zng1	T	C	19: 24,930,684 (GRCm39)	M122V	possibly damaging	Het

Other mutations in Zbtb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Zbtb9	APN	17	27,193,985 (GRCm39)	unclassified	probably benign
IGL02266:Zbtb9	APN	17	27,193,129 (GRCm39)	missense	probably benign	0.00
IGL03192:Zbtb9	APN	17	27,193,272 (GRCm39)	missense	probably benign	0.01
PIT4377001:Zbtb9	UTSW	17	27,193,735 (GRCm39)	missense	probably damaging	1.00
R1350:Zbtb9	UTSW	17	27,193,380 (GRCm39)	missense	probably benign	0.05
R1386:Zbtb9	UTSW	17	27,193,612 (GRCm39)	missense	probably damaging	1.00
R1928:Zbtb9	UTSW	17	27,193,612 (GRCm39)	missense	probably damaging	1.00
R2035:Zbtb9	UTSW	17	27,193,897 (GRCm39)	missense	probably damaging	1.00
R2208:Zbtb9	UTSW	17	27,193,098 (GRCm39)	missense	possibly damaging	0.90
R4196:Zbtb9	UTSW	17	27,192,853 (GRCm39)	missense	probably benign	0.20
R7202:Zbtb9	UTSW	17	27,193,666 (GRCm39)	missense	probably damaging	1.00
R8225:Zbtb9	UTSW	17	27,193,759 (GRCm39)	missense	probably damaging	1.00
R8544:Zbtb9	UTSW	17	27,193,448 (GRCm39)	nonsense	probably null
R9688:Zbtb9	UTSW	17	27,193,894 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGCTGCTGGAATCCCTGAAC -3'
(R):5'- TCTGAAAGAGTGGAGCTGCTGACC -3'

Sequencing Primer
(F):5'- TTACCGAATGTCATCGAGGC -3'
(R):5'- GCTGCTGACCCCTGCTC -3'

Posted On

2013-07-30