Mutagenetix > Incidental Mutation

Incidental Mutation 'R8253:Zbtb42'

640146

Institutional Source

Beutler Lab

Gene Symbol

Zbtb42

Ensembl Gene

ENSMUSG00000037638

Gene Name

zinc finger and BTB domain containing 42

Synonyms

simiRP58, Gm5188

MMRRC Submission

067679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112645262-112649181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112646746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 307 (L307R)

Ref Sequence

ENSEMBL: ENSMUSP00000133152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169593] [ENSMUST00000173942] [ENSMUST00000174780]

AlphaFold

Q811H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000169593
AA Change: L307R

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

SMART Domains

Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: L307R

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
BTB	24	122	8.88e-22	SMART
low complexity region	226	241	N/A	INTRINSIC
ZnF_C2H2	292	314	3.02e0	SMART
ZnF_C2H2	332	354	2.02e-1	SMART
ZnF_C2H2	360	382	5.06e-2	SMART
ZnF_C2H2	388	411	2.71e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173942

SMART Domains

Protein: ENSMUSP00000133987
Gene: ENSMUSG00000037638

Domain	Start	End	E-Value	Type
Blast:BTB	1	40	8e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174780

SMART Domains

Protein: ENSMUSP00000134028
Gene: ENSMUSG00000037638

Domain	Start	End	E-Value	Type
Pfam:BTB	1	40	1.3e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,874,702 (GRCm39)	E493G	probably benign	Het
Akr1a1	A	T	4: 116,493,840 (GRCm39)	D313E	probably damaging	Het
Ap1m1	T	A	8: 73,006,730 (GRCm39)	V242E	probably damaging	Het
Atad2b	T	A	12: 5,024,159 (GRCm39)	S670T	possibly damaging	Het
Atad2b	C	T	12: 5,024,160 (GRCm39)	S670L	probably benign	Het
Atp23	C	T	10: 126,704,543 (GRCm39)	G197S	probably benign	Het
Avpr1b	A	T	1: 131,537,154 (GRCm39)	T313S	probably benign	Het
Cblc	A	G	7: 19,520,157 (GRCm39)	I362T	probably damaging	Het
Ccdc171	T	A	4: 83,661,207 (GRCm39)	S1106T	probably damaging	Het
Cimap3	T	C	3: 105,905,683 (GRCm39)	M193V	probably benign	Het
Csde1	C	A	3: 102,946,037 (GRCm39)	N10K	probably damaging	Het
Csnk2a2	T	C	8: 96,215,005 (GRCm39)	Y24C		Het
Cyb5r4	G	T	9: 86,941,108 (GRCm39)	L420F	probably damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dner	C	T	1: 84,512,598 (GRCm39)	G323E	probably damaging	Het
Elf1	T	C	14: 79,773,792 (GRCm39)	M1T	probably null	Het
Fam13c	T	C	10: 70,389,033 (GRCm39)	S520P	probably damaging	Het
Fhip1b	T	A	7: 105,028,294 (GRCm39)	H885L	possibly damaging	Het
Gabra2	A	G	5: 71,249,413 (GRCm39)	I30T	probably benign	Het
Gm6793	T	A	8: 112,741,640 (GRCm39)	M1L	probably benign	Het
Inpp5a	T	C	7: 139,061,556 (GRCm39)	L76P	probably damaging	Het
Itih5	T	C	2: 10,243,406 (GRCm39)	I381T	probably benign	Het
Lyrm7	T	C	11: 54,741,227 (GRCm39)	I36V	probably null	Het
Magi2	A	G	5: 20,814,305 (GRCm39)	I906V	probably benign	Het
Mup5	C	T	4: 61,752,811 (GRCm39)	A71T	probably benign	Het
Ndufaf6	G	A	4: 11,059,086 (GRCm39)	R248W	probably damaging	Het
Or52z14	A	T	7: 103,253,538 (GRCm39)	I226L	possibly damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Palm	A	T	10: 79,643,511 (GRCm39)	K80*	probably null	Het
Pcyox1	C	T	6: 86,366,044 (GRCm39)	R390K	probably benign	Het
Pdx1	T	C	5: 147,207,459 (GRCm39)		probably null	Het
Pkp2	T	A	16: 16,086,406 (GRCm39)	V689D	probably damaging	Het
Prkar2a	G	T	9: 108,617,638 (GRCm39)	R232L	probably damaging	Het
Rasgrp4	C	T	7: 28,838,287 (GRCm39)	T87M	possibly damaging	Het
Ryr2	T	A	13: 11,842,439 (GRCm39)	Q486L	possibly damaging	Het
Shd	T	C	17: 56,283,295 (GRCm39)	V309A		Het
Skint7	C	T	4: 111,834,675 (GRCm39)	Q20*	probably null	Het
Slc35g1	C	A	19: 38,391,237 (GRCm39)	T173K	probably damaging	Het
Slit2	T	C	5: 48,433,013 (GRCm39)	F1073L	probably benign	Het
Snx18	T	A	13: 113,731,317 (GRCm39)	D559V	probably damaging	Het
Tbr1	G	T	2: 61,635,585 (GRCm39)	Q178H	probably benign	Het
Tmem145	T	G	7: 25,006,939 (GRCm39)	Y114D	probably damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Uba2	T	C	7: 33,850,323 (GRCm39)	M377V	probably damaging	Het
Vps13c	T	A	9: 67,850,770 (GRCm39)	Y2242*	probably null	Het
Xdh	T	G	17: 74,225,377 (GRCm39)	Q475P	possibly damaging	Het

Other mutations in Zbtb42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01712:Zbtb42	APN	12	112,646,718 (GRCm39)	missense	probably benign	0.35
R0607:Zbtb42	UTSW	12	112,647,061 (GRCm39)	missense	probably benign	0.32
R4586:Zbtb42	UTSW	12	112,646,976 (GRCm39)	missense	probably damaging	1.00
R4607:Zbtb42	UTSW	12	112,646,976 (GRCm39)	missense	probably damaging	1.00
R4609:Zbtb42	UTSW	12	112,646,976 (GRCm39)	missense	probably damaging	1.00
R4890:Zbtb42	UTSW	12	112,646,861 (GRCm39)	nonsense	probably null
R5143:Zbtb42	UTSW	12	112,645,948 (GRCm39)	missense	probably damaging	1.00
R5933:Zbtb42	UTSW	12	112,647,055 (GRCm39)	missense	probably damaging	1.00
R6066:Zbtb42	UTSW	12	112,646,041 (GRCm39)	missense	probably damaging	1.00
R6245:Zbtb42	UTSW	12	112,645,969 (GRCm39)	missense	probably damaging	1.00
R6974:Zbtb42	UTSW	12	112,646,824 (GRCm39)	missense	probably damaging	0.97
R8092:Zbtb42	UTSW	12	112,646,275 (GRCm39)	missense	probably damaging	1.00
R8355:Zbtb42	UTSW	12	112,645,969 (GRCm39)	missense	probably damaging	1.00
R9086:Zbtb42	UTSW	12	112,645,848 (GRCm39)	missense	probably benign	0.35
Z1176:Zbtb42	UTSW	12	112,646,633 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTCTCAGAACAAGATAGCAGCAG -3'
(R):5'- ACGCAGGTATAGGGCTTCTC -3'

Sequencing Primer
(F):5'- GATCCCCACCACCAGTCTGTG -3'
(R):5'- GGCTTCTCCCCAGAGTGTGTC -3'

Posted On

2020-07-28