Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Zbtb40'

65207

Institutional Source

Beutler Lab

Gene Symbol

Zbtb40

Ensembl Gene

ENSMUSG00000060862

Gene Name

zinc finger and BTB domain containing 40

Synonyms

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R0334 (G1)

Quality Score

119

Status

Validated

Chromosome

Chromosomal Location

136707043-136776112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136713867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 1094 (H1094Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049583]

AlphaFold

Q6PCS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049583
AA Change: H1094Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: H1094Q

Domain	Start	End	E-Value	Type
low complexity region	8	14	N/A	INTRINSIC
BTB	24	117	3.39e-18	SMART
low complexity region	150	170	N/A	INTRINSIC
low complexity region	525	533	N/A	INTRINSIC
low complexity region	725	741	N/A	INTRINSIC
ZnF_C2H2	754	774	4.86e1	SMART
low complexity region	786	801	N/A	INTRINSIC
ZnF_C2H2	825	848	1.16e-1	SMART
ZnF_C2H2	854	876	1.1e-2	SMART
ZnF_C2H2	882	905	1.16e-1	SMART
ZnF_C2H2	911	933	1.2e-3	SMART
ZnF_C2H2	939	962	8.81e-2	SMART
ZnF_C2H2	969	992	7.05e-1	SMART
ZnF_C2H2	997	1019	1.47e-3	SMART
ZnF_C2H2	1025	1047	2.86e-1	SMART
ZnF_C2H2	1065	1088	6.67e-2	SMART
ZnF_C2H2	1094	1117	6.23e-2	SMART
ZnF_C2H2	1123	1146	1.53e-1	SMART
ZnF_C2H2	1154	1177	1.56e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000218160
AA Change: H185Q

Meta Mutation Damage Score

0.1201

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Disc1	A	T	8: 125,987,836 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het

Other mutations in Zbtb40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Zbtb40	APN	4	136,714,651 (GRCm39)	missense	probably damaging	0.99
IGL00573:Zbtb40	APN	4	136,745,389 (GRCm39)	missense	probably benign	0.00
IGL00774:Zbtb40	APN	4	136,721,835 (GRCm39)	missense	probably damaging	1.00
R0046:Zbtb40	UTSW	4	136,714,589 (GRCm39)	missense	probably damaging	1.00
R0046:Zbtb40	UTSW	4	136,714,589 (GRCm39)	missense	probably damaging	1.00
R0393:Zbtb40	UTSW	4	136,745,842 (GRCm39)	missense	probably benign	0.09
R0482:Zbtb40	UTSW	4	136,710,539 (GRCm39)	missense	probably damaging	1.00
R1457:Zbtb40	UTSW	4	136,712,148 (GRCm39)	missense	possibly damaging	0.81
R1846:Zbtb40	UTSW	4	136,735,150 (GRCm39)	missense	probably benign	0.00
R2153:Zbtb40	UTSW	4	136,718,946 (GRCm39)	missense	probably damaging	1.00
R2206:Zbtb40	UTSW	4	136,744,596 (GRCm39)	nonsense	probably null
R2291:Zbtb40	UTSW	4	136,712,328 (GRCm39)	missense	possibly damaging	0.78
R2406:Zbtb40	UTSW	4	136,725,879 (GRCm39)	missense	probably benign	0.34
R3707:Zbtb40	UTSW	4	136,726,879 (GRCm39)	missense	probably damaging	1.00
R4131:Zbtb40	UTSW	4	136,722,707 (GRCm39)	missense	probably benign	0.00
R4243:Zbtb40	UTSW	4	136,745,860 (GRCm39)	missense	probably benign	0.00
R4424:Zbtb40	UTSW	4	136,726,005 (GRCm39)	missense	probably damaging	0.96
R4725:Zbtb40	UTSW	4	136,746,072 (GRCm39)	utr 5 prime	probably benign
R4784:Zbtb40	UTSW	4	136,734,408 (GRCm39)	missense	probably damaging	1.00
R4795:Zbtb40	UTSW	4	136,725,953 (GRCm39)	missense	probably benign	0.00
R4796:Zbtb40	UTSW	4	136,725,953 (GRCm39)	missense	probably benign	0.00
R4838:Zbtb40	UTSW	4	136,728,527 (GRCm39)	missense	probably benign	0.15
R4859:Zbtb40	UTSW	4	136,716,070 (GRCm39)	missense	probably damaging	0.98
R4883:Zbtb40	UTSW	4	136,728,241 (GRCm39)	missense	probably benign	0.09
R5001:Zbtb40	UTSW	4	136,723,461 (GRCm39)	missense	probably damaging	1.00
R5030:Zbtb40	UTSW	4	136,725,263 (GRCm39)	missense	probably benign	0.00
R5060:Zbtb40	UTSW	4	136,728,604 (GRCm39)	missense	possibly damaging	0.71
R5529:Zbtb40	UTSW	4	136,710,474 (GRCm39)	missense	possibly damaging	0.90
R5536:Zbtb40	UTSW	4	136,714,642 (GRCm39)	missense	probably damaging	1.00
R5589:Zbtb40	UTSW	4	136,722,594 (GRCm39)	missense	probably damaging	1.00
R6114:Zbtb40	UTSW	4	136,716,002 (GRCm39)	missense	probably damaging	1.00
R6393:Zbtb40	UTSW	4	136,712,177 (GRCm39)	missense	probably null
R7208:Zbtb40	UTSW	4	136,726,937 (GRCm39)	splice site	probably null
R7406:Zbtb40	UTSW	4	136,728,205 (GRCm39)	missense	probably benign	0.29
R7722:Zbtb40	UTSW	4	136,718,829 (GRCm39)	missense	probably damaging	0.98
R7803:Zbtb40	UTSW	4	136,744,638 (GRCm39)	missense	probably benign
R8292:Zbtb40	UTSW	4	136,726,878 (GRCm39)	missense	probably damaging	1.00
R8735:Zbtb40	UTSW	4	136,725,957 (GRCm39)	missense	probably damaging	1.00
R8890:Zbtb40	UTSW	4	136,725,897 (GRCm39)	missense	probably damaging	1.00
R9003:Zbtb40	UTSW	4	136,745,904 (GRCm39)	missense	probably damaging	1.00
R9290:Zbtb40	UTSW	4	136,745,529 (GRCm39)	missense	probably benign	0.00
R9328:Zbtb40	UTSW	4	136,745,620 (GRCm39)	missense	probably benign	0.00
RF014:Zbtb40	UTSW	4	136,744,617 (GRCm39)	missense	probably benign	0.20
Z1176:Zbtb40	UTSW	4	136,722,774 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbtb40	UTSW	4	136,745,335 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAACAGCAGTAGTGGACCTGGCTC -3'
(R):5'- CTGCCAGCAGGTTACACAGATCTC -3'

Sequencing Primer
(F):5'- ACTGATGTGCCAGCTTCAAG -3'
(R):5'- AGATCTCTTTAGGCACAGGC -3'

Posted On

2013-08-08