Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Zbtb49'

380458

Institutional Source

Beutler Lab

Gene Symbol

Zbtb49

Ensembl Gene

ENSMUSG00000029127

Gene Name

zinc finger and BTB domain containing 49

Synonyms

Zfp509, 4930518A03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38189735-38220457 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38213963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 191 (D191E)

Ref Sequence

ENSEMBL: ENSMUSP00000092429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094833] [ENSMUST00000114113] [ENSMUST00000123106] [ENSMUST00000126267] [ENSMUST00000136475] [ENSMUST00000138820] [ENSMUST00000143436]

AlphaFold

Q8BXX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094833
AA Change: D191E

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
AA Change: D191E

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART
ZnF_C2H2	414	436	6.99e-5	SMART
ZnF_C2H2	442	464	2.24e-3	SMART
ZnF_C2H2	470	492	1.26e-2	SMART
ZnF_C2H2	498	520	5.14e-3	SMART
ZnF_C2H2	526	548	2.27e-4	SMART
ZnF_C2H2	554	576	3.39e-3	SMART
low complexity region	597	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114113
AA Change: D191E

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109748
Gene: ENSMUSG00000029127
AA Change: D191E

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART
low complexity region	413	430	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123106

SMART Domains

Protein: ENSMUSP00000144200
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	12	51	1.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126267
AA Change: D191E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127
AA Change: D191E

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129161

Predicted Effect

probably benign
Transcript: ENSMUST00000136475
AA Change: D191E

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127
AA Change: D191E

Domain	Start	End	E-Value	Type
BTB	25	121	2.97e-23	SMART
ZnF_C2H2	386	408	1.38e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137577

Predicted Effect

probably benign
Transcript: ENSMUST00000138820

SMART Domains

Protein: ENSMUSP00000117913
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	13	63	4.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143436

SMART Domains

Protein: ENSMUSP00000115513
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
Pfam:BTB	15	75	1.5e-11	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,736,201	F597S	probably benign	Het
4933406M09Rik	T	A	1: 134,389,976	M162K	probably benign	Het
Aasdh	C	A	5: 76,888,654	E347*	probably null	Het
Abca16	G	T	7: 120,527,086	C1155F	probably damaging	Het
Adam26a	T	C	8: 43,568,881	D524G	probably damaging	Het
Adamts20	G	C	15: 94,379,775	H269D	probably benign	Het
Akap9	T	A	5: 4,050,145		probably null	Het
Akt3	T	C	1: 177,050,127	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,361,807	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974	S105P	probably benign	Het
Amph	A	G	13: 19,104,345	T335A	probably damaging	Het
Ank2	C	T	3: 126,962,401	V1056M	probably damaging	Het
Apoh	A	G	11: 108,407,378	D168G	probably benign	Het
Arfgef3	C	T	10: 18,589,706	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,403,329	D218G	probably benign	Het
Ascc3	C	T	10: 50,823,798	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,807,008		probably null	Het
B4galnt2	A	G	11: 95,868,429	V343A	probably damaging	Het
Barhl1	T	C	2: 28,909,773	Y280C	probably damaging	Het
Bcar1	A	T	8: 111,721,037	Y103N	probably damaging	Het
Bid	A	G	6: 120,895,746	I150T	probably benign	Het
Ccdc171	T	C	4: 83,549,639	S74P	probably damaging	Het
Ccni	A	T	5: 93,188,254		probably null	Het
Cct8l1	A	G	5: 25,516,893	E202G	probably benign	Het
Cd200r3	A	G	16: 44,954,259	K212E	probably benign	Het
Cdh19	A	G	1: 110,889,964	S683P	probably damaging	Het
Ces2b	A	T	8: 104,832,781	H93L	probably benign	Het
Clec4a1	G	A	6: 122,930,695	C114Y	probably damaging	Het
Dcc	G	T	18: 71,542,249	S636*	probably null	Het
Dcdc2c	T	C	12: 28,530,473	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,114,658	E150*	probably null	Het
Dhx30	A	G	9: 110,085,961	L884P	probably damaging	Het
Dmwd	T	G	7: 19,081,303		probably null	Het
Dnah17	T	A	11: 118,042,154	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,481,337	S447N	probably benign	Het
Elk4	G	A	1: 132,017,681	G99D	probably damaging	Het
Entpd1	A	T	19: 40,739,521		probably benign	Het
Fam114a1	T	A	5: 64,979,727	D4E	probably damaging	Het
Fam160b1	T	C	19: 57,378,637	V204A	probably benign	Het
Fam166b	T	A	4: 43,427,514	Q270L	possibly damaging	Het
Fbln2	A	G	6: 91,264,699	D754G	probably damaging	Het
Foxred2	T	C	15: 77,955,835	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591		probably benign	Het
Gm13023	T	C	4: 143,793,837	V53A	possibly damaging	Het
Gm13762	T	A	2: 88,973,490	I134F	probably damaging	Het
Gm14124	C	T	2: 150,268,760	H457Y	unknown	Het
Gm1818	G	A	12: 48,559,824		noncoding transcript	Het
Gm4894	C	A	9: 49,278,700	Q92K	unknown	Het
Gpx2	T	C	12: 76,792,800	I141M	probably benign	Het
Gusb	T	C	5: 129,995,485	T476A	probably damaging	Het
Hmmr	G	A	11: 40,721,840	T180I	possibly damaging	Het
Itgbl1	T	C	14: 123,973,368	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,360,383	C93*	probably null	Het
Lpar3	A	G	3: 146,284,751	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,802,885		probably null	Het
Lrrc63	C	T	14: 75,084,949	G572S	probably damaging	Het
Mapk11	A	T	15: 89,146,482	D98E	probably benign	Het
Net1	G	A	13: 3,884,905	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005		noncoding transcript	Het
Nrap	T	A	19: 56,347,220	Y923F	probably damaging	Het
Olfr53	T	A	7: 140,652,621	M214K	probably benign	Het
Olfr811	A	T	10: 129,802,063	V154E	probably benign	Het
Plxnc1	A	G	10: 94,841,473	V964A	probably damaging	Het
Pmfbp1	A	G	8: 109,535,866	I731V	probably benign	Het
Polq	T	A	16: 37,027,912	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,982,554	D387G	probably benign	Het
Prmt2	G	A	10: 76,221,008	T227I	probably damaging	Het
Psmd1	T	A	1: 86,083,225	F341I	probably damaging	Het
Ptpn23	T	C	9: 110,392,738	M127V	probably benign	Het
Ptprc	A	G	1: 138,089,500	F483L	probably damaging	Het
Rab35	A	C	5: 115,640,088	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,657,317	T486A	probably damaging	Het
Rgl3	A	T	9: 21,987,708	C68*	probably null	Het
Rilpl1	T	C	5: 124,515,531	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,517,524	I354V	probably benign	Het
Rspo3	T	C	10: 29,506,528	D50G	probably damaging	Het
Sbno1	A	G	5: 124,374,609	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,694,686	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,252,952	Y85F	probably benign	Het
Shprh	C	T	10: 11,157,119	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,341,329	S110P	probably benign	Het
Slc16a12	T	A	19: 34,675,243	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,132,624	S221P	probably damaging	Het
Slc35b3	A	T	13: 38,932,911	I366K	possibly damaging	Het
Slc44a5	T	C	3: 154,243,615		probably null	Het
Slc5a12	A	T	2: 110,620,408	D316V	probably damaging	Het
Ssr3	A	G	3: 65,392,453	S29P	probably damaging	Het
Taf2	G	A	15: 55,027,223	Q1055*	probably null	Het
Them6	A	T	15: 74,721,518	D75V	probably damaging	Het
Tmem159	T	C	7: 120,116,312	S120P	probably damaging	Het
Tom1l2	A	G	11: 60,258,918	S239P	probably damaging	Het
Tspear	A	G	10: 77,875,043	T500A	probably damaging	Het
Tubgcp6	G	A	15: 89,101,549	A1487V	probably damaging	Het
Uba7	G	A	9: 107,978,991	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147	C901*	probably null	Het
Vmn1r172	A	T	7: 23,659,887	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,379,176	Y331F	probably benign	Het
Wdr55	G	A	18: 36,762,398	V143I	probably benign	Het
Zfhx4	A	G	3: 5,242,011	H99R	probably damaging	Het
Zfp560	C	T	9: 20,347,967	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,879,182	A177V	probably benign	Het
Zfp653	C	T	9: 22,055,778	E604K	probably damaging	Het

Other mutations in Zbtb49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Zbtb49	APN	5	38210616	critical splice donor site	probably null
IGL01736:Zbtb49	APN	5	38200860	missense	probably damaging	1.00
PIT4585001:Zbtb49	UTSW	5	38216476	missense	probably damaging	1.00
R0443:Zbtb49	UTSW	5	38200830	missense	probably benign	0.08
R0526:Zbtb49	UTSW	5	38213919	missense	probably benign	0.08
R0646:Zbtb49	UTSW	5	38200674	missense	probably damaging	1.00
R1200:Zbtb49	UTSW	5	38213331	missense	probably damaging	1.00
R1678:Zbtb49	UTSW	5	38213694	missense	probably damaging	0.97
R1964:Zbtb49	UTSW	5	38203761	nonsense	probably null
R2155:Zbtb49	UTSW	5	38214120	missense	possibly damaging	0.86
R2483:Zbtb49	UTSW	5	38203357	intron	probably benign
R3617:Zbtb49	UTSW	5	38200631	unclassified	probably benign
R5579:Zbtb49	UTSW	5	38200816	missense	probably damaging	0.99
R5699:Zbtb49	UTSW	5	38216526	missense	probably damaging	1.00
R6354:Zbtb49	UTSW	5	38203559	missense	possibly damaging	0.58
R6426:Zbtb49	UTSW	5	38203087	splice site	probably null
R6735:Zbtb49	UTSW	5	38201058	missense	possibly damaging	0.74
R6805:Zbtb49	UTSW	5	38213241	intron	probably benign
R6869:Zbtb49	UTSW	5	38214350	missense	probably damaging	1.00
R7020:Zbtb49	UTSW	5	38213367	nonsense	probably null
R7899:Zbtb49	UTSW	5	38213930	nonsense	probably null
R8041:Zbtb49	UTSW	5	38200854	missense	possibly damaging	0.61
R8461:Zbtb49	UTSW	5	38201109	missense	probably benign	0.04
R8517:Zbtb49	UTSW	5	38200653	missense	probably benign	0.25
R8523:Zbtb49	UTSW	5	38213325	missense	probably damaging	1.00
R9068:Zbtb49	UTSW	5	38200945	missense	probably benign
R9160:Zbtb49	UTSW	5	38205902	missense	probably damaging	0.99
R9301:Zbtb49	UTSW	5	38213587	missense	probably benign
R9315:Zbtb49	UTSW	5	38200738	missense	probably benign	0.05
R9480:Zbtb49	UTSW	5	38201065	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- AAGGCAAGTGCTCTGGAGTC -3'
(R):5'- CTGTGCCACACATTTCTGAAG -3'

Sequencing Primer
(F):5'- TGGAGTCTCCAGGACAGCTG -3'
(R):5'- GCCACACATTTCTGAAGTCGGC -3'

Posted On

2016-04-15