Mutagenetix > Incidental Mutation

Incidental Mutation 'R7941:Zbtb39'

649064

Institutional Source

Beutler Lab

Gene Symbol

Zbtb39

Ensembl Gene

ENSMUSG00000044617

Gene Name

zinc finger and BTB domain containing 39

Synonyms

7030401O21Rik

MMRRC Submission

045987-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127575407-127583218 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127579409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 661 (Y661C)

Ref Sequence

ENSEMBL: ENSMUSP00000052717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054287] [ENSMUST00000079692]

AlphaFold

Q6PDK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054287
AA Change: Y661C

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

SMART Domains

Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: Y661C

Domain	Start	End	E-Value	Type
BTB	30	126	9.15e-24	SMART
low complexity region	197	206	N/A	INTRINSIC
low complexity region	213	229	N/A	INTRINSIC
ZnF_C2H2	372	394	6.4e0	SMART
ZnF_C2H2	400	420	3.21e1	SMART
ZnF_C2H2	451	474	9.31e1	SMART
ZnF_C2H2	480	502	6.92e0	SMART
ZnF_C2H2	508	530	1.79e-2	SMART
ZnF_C2H2	538	560	1.18e-2	SMART
ZnF_C2H2	605	627	2.57e-3	SMART
ZnF_C2H2	633	655	3.78e-1	SMART
ZnF_C2H2	661	683	2.49e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079692

SMART Domains

Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396

Domain	Start	End	E-Value	Type
Pfam:7tm_1	66	316	1.2e-40	PFAM
low complexity region	340	352	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,579,691 (GRCm39)		probably benign	Het
AI467606	A	G	7: 126,691,593 (GRCm39)	E56G	probably damaging	Het
Ak9	C	T	10: 41,285,133 (GRCm39)	P1403S	unknown	Het
Akr1c14	A	G	13: 4,109,713 (GRCm39)	K28E	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Anks1b	A	T	10: 90,413,017 (GRCm39)	N55I	probably damaging	Het
Cabyr	T	C	18: 12,877,825 (GRCm39)	L54P	probably damaging	Het
Cachd1	A	T	4: 100,845,370 (GRCm39)	N954I	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Chst10	T	A	1: 38,910,772 (GRCm39)	I131L	probably damaging	Het
Cluh	A	T	11: 74,550,583 (GRCm39)	M270L	probably benign	Het
Dagla	T	C	19: 10,248,867 (GRCm39)	H29R	probably damaging	Het
Dusp5	A	G	19: 53,525,964 (GRCm39)	N202S	probably benign	Het
Elavl3	A	G	9: 21,947,612 (GRCm39)	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,045,885 (GRCm39)	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,699 (GRCm39)	L316P	probably damaging	Het
Gad1	T	A	2: 70,424,929 (GRCm39)		probably null	Het
H2-K2	T	C	17: 34,218,305 (GRCm39)	T204A	probably benign	Het
Hmcn1	A	G	1: 150,525,835 (GRCm39)	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,455,299 (GRCm39)	F203S	probably damaging	Het
Il16	T	A	7: 83,332,037 (GRCm39)	D181V	probably damaging	Het
Ip6k1	T	C	9: 107,901,631 (GRCm39)	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755 (GRCm39)		probably benign	Het
Lsr	T	G	7: 30,672,520 (GRCm39)	I27L	probably benign	Het
Mettl4	A	T	17: 95,040,622 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,200,987 (GRCm39)	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,642,307 (GRCm39)	G37D	probably damaging	Het
Or5w11	T	C	2: 87,459,248 (GRCm39)	V31A	probably benign	Het
Otogl	A	T	10: 107,642,663 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,332,133 (GRCm39)	D429G	probably damaging	Het
Pramel34	A	T	5: 93,785,887 (GRCm39)	V131D	probably benign	Het
Prelid2	A	T	18: 42,065,816 (GRCm39)	L73*	probably null	Het
Psg20	T	A	7: 18,415,102 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab24	C	T	13: 55,468,120 (GRCm39)		probably null	Het
Rag1	T	G	2: 101,472,691 (GRCm39)	K817T	probably benign	Het
Rgl2	T	C	17: 34,150,713 (GRCm39)	V57A	probably benign	Het
Ric1	T	C	19: 29,510,659 (GRCm39)	M80T	probably damaging	Het
Sh3rf3	T	C	10: 58,842,883 (GRCm39)	I283T	probably damaging	Het
Skint2	C	A	4: 112,483,187 (GRCm39)	N197K	probably damaging	Het
Snapc4	A	G	2: 26,266,730 (GRCm39)	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,157,462 (GRCm39)		probably benign	Het
Svip	T	C	7: 51,653,161 (GRCm39)	K51R	probably benign	Het
Syndig1	T	A	2: 149,741,708 (GRCm39)	V98E	probably benign	Het
Tshz1	A	T	18: 84,033,517 (GRCm39)	M297K	possibly damaging	Het
Ttn	A	G	2: 76,749,694 (GRCm39)	V3785A	probably benign	Het
Usf3	T	C	16: 44,035,924 (GRCm39)	S135P	probably damaging	Het
Vmn2r10	A	T	5: 109,144,306 (GRCm39)	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,405,099 (GRCm39)	S748P	possibly damaging	Het
Zfp804b	A	G	5: 6,820,042 (GRCm39)	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,251,599 (GRCm39)	I212V	probably benign	Het

Other mutations in Zbtb39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01935:Zbtb39	APN	10	127,578,235 (GRCm39)	missense	probably benign	0.00
R0636:Zbtb39	UTSW	10	127,578,704 (GRCm39)	missense	probably benign	0.01
R0959:Zbtb39	UTSW	10	127,578,931 (GRCm39)	missense	probably damaging	1.00
R0959:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R0962:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R0964:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1188:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1189:Zbtb39	UTSW	10	127,578,175 (GRCm39)	missense	probably benign	0.31
R1239:Zbtb39	UTSW	10	127,578,938 (GRCm39)	missense	probably damaging	1.00
R1341:Zbtb39	UTSW	10	127,579,369 (GRCm39)	missense	possibly damaging	0.91
R1838:Zbtb39	UTSW	10	127,578,569 (GRCm39)	missense	probably damaging	1.00
R2012:Zbtb39	UTSW	10	127,578,703 (GRCm39)	missense	probably benign	0.43
R2167:Zbtb39	UTSW	10	127,578,844 (GRCm39)	missense	probably benign	0.03
R2346:Zbtb39	UTSW	10	127,577,450 (GRCm39)	missense	possibly damaging	0.49
R4041:Zbtb39	UTSW	10	127,579,423 (GRCm39)	missense	probably damaging	1.00
R4171:Zbtb39	UTSW	10	127,578,236 (GRCm39)	missense	possibly damaging	0.51
R4409:Zbtb39	UTSW	10	127,578,696 (GRCm39)	missense	possibly damaging	0.51
R4410:Zbtb39	UTSW	10	127,578,696 (GRCm39)	missense	possibly damaging	0.51
R4539:Zbtb39	UTSW	10	127,578,061 (GRCm39)	missense	possibly damaging	0.90
R5761:Zbtb39	UTSW	10	127,578,515 (GRCm39)	missense	probably damaging	1.00
R5766:Zbtb39	UTSW	10	127,578,557 (GRCm39)	missense	probably damaging	1.00
R5812:Zbtb39	UTSW	10	127,577,429 (GRCm39)	start codon destroyed	probably null	0.99
R6710:Zbtb39	UTSW	10	127,579,505 (GRCm39)	missense	probably damaging	1.00
R6919:Zbtb39	UTSW	10	127,577,711 (GRCm39)	missense	probably damaging	1.00
R8711:Zbtb39	UTSW	10	127,578,815 (GRCm39)	missense	probably damaging	1.00
X0024:Zbtb39	UTSW	10	127,577,635 (GRCm39)	missense	probably damaging	1.00
Z1177:Zbtb39	UTSW	10	127,578,296 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GCCTGGGAATAGTAAGTACAGTTG -3'
(R):5'- TACAAAGTCACTATCCCGGC -3'

Sequencing Primer
(F):5'- TACAGTTGTAAGGTCTGTGGCAAAAG -3'
(R):5'- GGAGCTCCCTCTGACTCTG -3'

Posted On

2020-09-15