Mutagenetix > Incidental Mutation

Incidental Mutation 'R5589:Zbtb40'

437341

Institutional Source

Beutler Lab

Gene Symbol

Zbtb40

Ensembl Gene

ENSMUSG00000060862

Gene Name

zinc finger and BTB domain containing 40

Synonyms

MMRRC Submission

043142-MU

Accession Numbers

Essential gene?

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

Stock #

R5589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136707043-136776112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136722594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 828 (D828G)

Ref Sequence

ENSEMBL: ENSMUSP00000061899 (fasta)

Gene Model

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

AlphaFold

Q6PCS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000049583
AA Change: D828G

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

SMART Domains

Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: D828G

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

probably benign
Transcript: ENSMUST00000218160

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,066 (GRCm39)	M76L	probably benign	Het
Adrm1b	T	A	3: 92,336,112 (GRCm39)		probably benign	Het
Alg1	T	A	16: 5,053,086 (GRCm39)	W116R	probably benign	Het
Ano3	A	T	2: 110,715,340 (GRCm39)	S33T	probably damaging	Het
Atp2b2	T	C	6: 113,751,400 (GRCm39)	E556G	possibly damaging	Het
Brca2	T	A	5: 150,480,597 (GRCm39)	I2761K	possibly damaging	Het
Ccdc68	G	A	18: 70,079,577 (GRCm39)	G141E	probably benign	Het
Cckbr	T	C	7: 105,083,732 (GRCm39)	V220A	probably damaging	Het
Ccnd3	G	A	17: 47,909,544 (GRCm39)	R45Q	probably damaging	Het
Cdh24	G	T	14: 54,874,832 (GRCm39)	T391N	probably damaging	Het
Cldn11	A	G	3: 31,204,395 (GRCm39)	T33A	probably damaging	Het
Clec2e	T	A	6: 129,075,391 (GRCm39)	Y50F	probably benign	Het
Cntnap1	A	G	11: 101,075,944 (GRCm39)	N943D	probably benign	Het
Cspg4b	A	G	13: 113,454,484 (GRCm39)	R177G	possibly damaging	Het
Dmgdh	T	C	13: 93,813,665 (GRCm39)	V70A	probably damaging	Het
Gm14496	C	A	2: 181,637,674 (GRCm39)	Y249*	probably null	Het
Gmnc	T	A	16: 26,781,714 (GRCm39)	H105L	probably damaging	Het
Gpt2	A	G	8: 86,219,740 (GRCm39)	Y62C	probably damaging	Het
Ift80	T	C	3: 68,838,233 (GRCm39)	R413G	probably damaging	Het
Kctd16	C	A	18: 40,392,061 (GRCm39)	D216E	probably damaging	Het
Kif26b	T	C	1: 178,743,864 (GRCm39)	V873A	probably benign	Het
Klra4	G	T	6: 130,039,117 (GRCm39)	Q92K	probably benign	Het
L1td1	C	A	4: 98,626,341 (GRCm39)	N845K	possibly damaging	Het
Lama3	C	T	18: 12,605,277 (GRCm39)	T1077I	possibly damaging	Het
Loxhd1	T	C	18: 77,429,751 (GRCm39)	I230T	possibly damaging	Het
Lsg1	T	C	16: 30,399,819 (GRCm39)	N160S	probably damaging	Het
Lyzl4	G	A	9: 121,413,469 (GRCm39)	R24C	probably damaging	Het
Mib1	A	G	18: 10,794,488 (GRCm39)	N658S	probably benign	Het
Mmp8	T	C	9: 7,566,275 (GRCm39)	I377T	probably damaging	Het
Mtmr14	T	C	6: 113,238,243 (GRCm39)		probably null	Het
Myo1c	A	G	11: 75,548,414 (GRCm39)	T58A	possibly damaging	Het
Myo9a	C	T	9: 59,802,527 (GRCm39)	Q2005*	probably null	Het
Neu3	G	T	7: 99,472,636 (GRCm39)	P34T	probably benign	Het
Nlrp4b	G	A	7: 10,449,512 (GRCm39)	V205I	probably benign	Het
Or4b1b	C	T	2: 90,112,313 (GRCm39)	G202D	probably damaging	Het
Or4k38	T	C	2: 111,165,850 (GRCm39)	N191S	possibly damaging	Het
Or5h23	A	T	16: 58,906,334 (GRCm39)	S171T	probably benign	Het
Or5t15	A	G	2: 86,681,118 (GRCm39)	I308T	unknown	Het
Or6c66	T	G	10: 129,461,319 (GRCm39)	T204P	probably damaging	Het
Or9m1	T	C	2: 87,733,691 (GRCm39)	T110A	probably benign	Het
Pcsk6	T	C	7: 65,578,933 (GRCm39)		probably null	Het
Pik3c2a	A	G	7: 116,016,893 (GRCm39)	V288A	probably benign	Het
Plcd3	T	C	11: 102,968,629 (GRCm39)	D354G	probably benign	Het
Prkdc	C	A	16: 15,524,655 (GRCm39)	N1219K	probably benign	Het
Prl3d1	T	A	13: 27,278,927 (GRCm39)	Y41N	probably damaging	Het
Qrich2	C	T	11: 116,332,234 (GRCm39)	G2321R	probably damaging	Het
Rrbp1	T	C	2: 143,831,886 (GRCm39)	I94V	probably benign	Het
Serinc1	C	A	10: 57,399,262 (GRCm39)	V214L	probably benign	Het
Serpina9	G	T	12: 103,967,728 (GRCm39)	N222K	probably benign	Het
Smchd1	A	G	17: 71,747,956 (GRCm39)	Y429H	probably damaging	Het
Smyd1	C	T	6: 71,239,164 (GRCm39)	V9M	probably damaging	Het
Sostdc1	C	T	12: 36,367,246 (GRCm39)	Q141*	probably null	Het
Spam1	C	T	6: 24,796,109 (GRCm39)	T20I	probably benign	Het
Tex47	T	C	5: 7,354,834 (GRCm39)	V5A	probably benign	Het
Thbs4	T	C	13: 92,912,582 (GRCm39)		probably null	Het
Trim45	C	T	3: 100,837,257 (GRCm39)	P531L	probably damaging	Het
Tshb	A	T	3: 102,685,478 (GRCm39)	Y50*	probably null	Het
Ttn	T	C	2: 76,599,320 (GRCm39)	I19230V	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uba6	G	A	5: 86,270,288 (GRCm39)	T832I	probably damaging	Het
Unc13d	A	T	11: 115,960,579 (GRCm39)	V497D	probably damaging	Het
Usp13	T	C	3: 32,892,007 (GRCm39)	V62A	probably damaging	Het
Vmn1r215	A	C	13: 23,260,189 (GRCm39)	L76F	probably damaging	Het
Vmn1r215	G	T	13: 23,260,190 (GRCm39)	G77C	probably damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zfp74	A	T	7: 29,633,990 (GRCm39)	C573S	probably 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
R0334:Zbtb40	UTSW	4	136,713,867 (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
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'- CCAATCCAGTGCCTGTGTTC -3'
(R):5'- TCTGCAAAGCCTGTGATAAGAGC -3'

Sequencing Primer
(F):5'- GTGTTCTTCTCAGGATACCATCATAC -3'
(R):5'- AGCCTGTGATAAGAGCTTCCATTTC -3'

Posted On

2016-10-26