Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Zbtb49'

618517

Institutional Source

Beutler Lab

Gene Symbol

Zbtb49

Ensembl Gene

ENSMUSG00000029127

Gene Name

zinc finger and BTB domain containing 49

Synonyms

Zfp509, 4930518A03Rik

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8041 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38347076-38377798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38358198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 685 (D685G)

Ref Sequence

ENSEMBL: ENSMUSP00000092429 (fasta)

Gene Model

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

AlphaFold

Q8BXX2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094833
AA Change: D685G

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
AA Change: D685G

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: 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

SMART Domains

Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127

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

SMART Domains

Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000146859

SMART Domains

Protein: ENSMUSP00000114955
Gene: ENSMUSG00000029127

Domain	Start	End	E-Value	Type
ZnF_C2H2	11	33	1.26e-2	SMART
ZnF_C2H2	39	61	5.14e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cd48	T	C	1: 171,526,958 (GRCm39)	V128A	probably damaging	Het
Cmah	A	G	13: 24,652,601 (GRCm39)	D577G	probably benign	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Cntnap5a	T	A	1: 116,187,209 (GRCm39)	Y594N	probably damaging	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Comtd1	T	A	14: 21,897,985 (GRCm39)	E153V	probably benign	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Jph3	A	C	8: 122,516,201 (GRCm39)	I740L	probably benign	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het

Other mutations in Zbtb49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01355:Zbtb49	APN	5	38,367,960 (GRCm39)	critical splice donor site	probably null
IGL01736:Zbtb49	APN	5	38,358,204 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Zbtb49	UTSW	5	38,373,820 (GRCm39)	missense	probably damaging	1.00
R0443:Zbtb49	UTSW	5	38,358,174 (GRCm39)	missense	probably benign	0.08
R0526:Zbtb49	UTSW	5	38,371,263 (GRCm39)	missense	probably benign	0.08
R0646:Zbtb49	UTSW	5	38,358,018 (GRCm39)	missense	probably damaging	1.00
R1200:Zbtb49	UTSW	5	38,370,675 (GRCm39)	missense	probably damaging	1.00
R1678:Zbtb49	UTSW	5	38,371,038 (GRCm39)	missense	probably damaging	0.97
R1964:Zbtb49	UTSW	5	38,361,105 (GRCm39)	nonsense	probably null
R2155:Zbtb49	UTSW	5	38,371,464 (GRCm39)	missense	possibly damaging	0.86
R2483:Zbtb49	UTSW	5	38,360,701 (GRCm39)	intron	probably benign
R3617:Zbtb49	UTSW	5	38,357,975 (GRCm39)	unclassified	probably benign
R4937:Zbtb49	UTSW	5	38,371,307 (GRCm39)	missense	possibly damaging	0.76
R5579:Zbtb49	UTSW	5	38,358,160 (GRCm39)	missense	probably damaging	0.99
R5699:Zbtb49	UTSW	5	38,373,870 (GRCm39)	missense	probably damaging	1.00
R6354:Zbtb49	UTSW	5	38,360,903 (GRCm39)	missense	possibly damaging	0.58
R6426:Zbtb49	UTSW	5	38,360,431 (GRCm39)	splice site	probably null
R6735:Zbtb49	UTSW	5	38,358,402 (GRCm39)	missense	possibly damaging	0.74
R6805:Zbtb49	UTSW	5	38,370,585 (GRCm39)	intron	probably benign
R6869:Zbtb49	UTSW	5	38,371,694 (GRCm39)	missense	probably damaging	1.00
R7020:Zbtb49	UTSW	5	38,370,711 (GRCm39)	nonsense	probably null
R7899:Zbtb49	UTSW	5	38,371,274 (GRCm39)	nonsense	probably null
R8461:Zbtb49	UTSW	5	38,358,453 (GRCm39)	missense	probably benign	0.04
R8517:Zbtb49	UTSW	5	38,357,997 (GRCm39)	missense	probably benign	0.25
R8523:Zbtb49	UTSW	5	38,370,669 (GRCm39)	missense	probably damaging	1.00
R9068:Zbtb49	UTSW	5	38,358,289 (GRCm39)	missense	probably benign
R9160:Zbtb49	UTSW	5	38,363,246 (GRCm39)	missense	probably damaging	0.99
R9301:Zbtb49	UTSW	5	38,370,931 (GRCm39)	missense	probably benign
R9315:Zbtb49	UTSW	5	38,358,082 (GRCm39)	missense	probably benign	0.05
R9480:Zbtb49	UTSW	5	38,358,409 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CAGTGTCTTCATTGCCAGCC -3'
(R):5'- CACTGATGCCTGTGTCTGTCAAG -3'

Sequencing Primer
(F):5'- CCCCAGAGAGTCATACTGGAG -3'
(R):5'- TGTCAAGCTCCCTGTGCAG -3'

Posted On

2020-01-23