Mutagenetix > Incidental Mutation

Incidental Mutation 'R6551:Zbtb48'

543460

Institutional Source

Beutler Lab

Gene Symbol

Zbtb48

Ensembl Gene

ENSMUSG00000028952

Gene Name

zinc finger and BTB domain containing 48

Synonyms

0610011D15Rik, Hkr3

MMRRC Submission

044676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6551 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

152104231-152112128 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 152106678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 142 (Q142P)

Ref Sequence

ENSEMBL: ENSMUSP00000117079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000156748]

AlphaFold

Q1H9T6

Predicted Effect

probably benign
Transcript: ENSMUST00000156748
AA Change: Q142P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952
AA Change: Q142P

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	102	1.64e-1	SMART
ZnF_C2H2	108	128	2.06e1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	T	1: 192,856,831 (GRCm39)	Q61L	probably damaging	Het
Acss2	T	C	2: 155,393,128 (GRCm39)	S285P	probably benign	Het
Ager	A	G	17: 34,818,442 (GRCm39)		probably null	Het
Alkbh7	T	A	17: 57,305,945 (GRCm39)	Y115*	probably null	Het
Brwd1	T	C	16: 95,795,162 (GRCm39)	D2184G	possibly damaging	Het
Chp1	T	A	2: 119,402,294 (GRCm39)	H89Q	possibly damaging	Het
Clmp	T	C	9: 40,682,573 (GRCm39)	V119A	probably benign	Het
Cryge	A	T	1: 65,087,796 (GRCm39)	M171K	probably benign	Het
Cttnbp2nl	A	T	3: 104,912,433 (GRCm39)	S484T	possibly damaging	Het
Dsg3	C	A	18: 20,672,968 (GRCm39)	P880T	unknown	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Espn	T	C	4: 152,213,223 (GRCm39)			Het
Fbxo31	A	C	8: 122,291,443 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,342 (GRCm39)	V1068A	probably damaging	Het
Jak1	C	A	4: 101,051,040 (GRCm39)		probably benign	Het
Klra10	A	T	6: 130,252,718 (GRCm39)	D185E	probably benign	Het
Lhx1	A	C	11: 84,412,739 (GRCm39)	D60E	probably benign	Het
Lyar	C	A	5: 38,390,616 (GRCm39)	A326D	probably damaging	Het
Muc16	A	C	9: 18,473,858 (GRCm39)	S1280A	possibly damaging	Het
Nol9	G	A	4: 152,136,325 (GRCm39)	V466I	possibly damaging	Het
Or10d1	C	A	9: 39,483,856 (GRCm39)	R233L	probably benign	Het
Or12e8	T	C	2: 87,677,005 (GRCm39)	V130A	possibly damaging	Het
Or1e17	T	C	11: 73,831,129 (GRCm39)	I19T	probably benign	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Or2w3b	A	T	11: 58,623,583 (GRCm39)	M136K	probably damaging	Het
Or2y10	G	T	11: 49,454,816 (GRCm39)	V23L	probably benign	Het
Pik3c2a	A	T	7: 116,016,731 (GRCm39)	I342N	probably damaging	Het
Pnldc1	A	G	17: 13,124,456 (GRCm39)	M133T	probably damaging	Het
Rab11fip1	G	A	8: 27,646,512 (GRCm39)	S188L	probably damaging	Het
Rapgef2	A	T	3: 79,122,342 (GRCm39)		probably null	Het
Rnf103	G	A	6: 71,487,349 (GRCm39)	C660Y	probably damaging	Het
Rph3al	G	A	11: 75,797,372 (GRCm39)	S108F	possibly damaging	Het
Srsf7	A	C	17: 80,511,648 (GRCm39)		probably benign	Het
Ssrp1	A	G	2: 84,871,450 (GRCm39)		probably null	Het
Tamm41	T	C	6: 114,989,142 (GRCm39)	D284G	possibly damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem39b	A	G	4: 129,585,896 (GRCm39)	V25A	probably benign	Het
Tmem88b	G	T	4: 155,870,149 (GRCm39)		probably benign	Het
Unk	T	C	11: 115,941,550 (GRCm39)	W266R	probably damaging	Het
Usp8	T	A	2: 126,575,102 (GRCm39)		probably benign	Het
Zdhhc18	T	C	4: 133,340,960 (GRCm39)	T267A	probably benign	Het
Zfp335	G	A	2: 164,751,285 (GRCm39)	P94S	probably benign	Het

Other mutations in Zbtb48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Zbtb48	APN	4	152,105,851 (GRCm39)	missense	probably damaging	0.99
IGL02709:Zbtb48	APN	4	152,105,851 (GRCm39)	missense	probably damaging	0.99
Etna	UTSW	4	152,106,064 (GRCm39)	missense	probably damaging	0.98
I0000:Zbtb48	UTSW	4	152,104,315 (GRCm39)	missense	probably benign	0.34
R1515:Zbtb48	UTSW	4	152,104,658 (GRCm39)	splice site	probably null
R1844:Zbtb48	UTSW	4	152,110,955 (GRCm39)	missense	probably benign
R2383:Zbtb48	UTSW	4	152,111,407 (GRCm39)	missense	probably damaging	0.96
R3618:Zbtb48	UTSW	4	152,110,484 (GRCm39)	splice site	probably null
R3619:Zbtb48	UTSW	4	152,110,484 (GRCm39)	splice site	probably null
R5427:Zbtb48	UTSW	4	152,105,108 (GRCm39)	missense	probably damaging	1.00
R5696:Zbtb48	UTSW	4	152,105,067 (GRCm39)	missense	probably damaging	0.99
R6155:Zbtb48	UTSW	4	152,106,495 (GRCm39)	splice site	probably null
R6157:Zbtb48	UTSW	4	152,106,064 (GRCm39)	missense	probably damaging	0.98
R8161:Zbtb48	UTSW	4	152,106,567 (GRCm39)	missense	probably damaging	0.99
R8252:Zbtb48	UTSW	4	152,105,344 (GRCm39)	missense	probably damaging	0.99
R8370:Zbtb48	UTSW	4	152,105,744 (GRCm39)	critical splice donor site	probably null
R8842:Zbtb48	UTSW	4	152,104,496 (GRCm39)	missense	probably benign	0.18
R9299:Zbtb48	UTSW	4	152,105,147 (GRCm39)	missense	possibly damaging	0.84
R9326:Zbtb48	UTSW	4	152,111,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCAGAGAGCTACATACC -3'
(R):5'- GGCTAAACCCTGTCATCCTC -3'

Sequencing Primer
(F):5'- GCATCTCCCCTGTGTGAGAC -3'
(R):5'- AAACCCTGTCATCCTCTTCCCAG -3'

Posted On

2019-01-04