Mutagenetix > Incidental Mutation

Incidental Mutation 'R9417:Zbtb8b'

712094

Institutional Source

Beutler Lab

Gene Symbol

Zbtb8b

Ensembl Gene

ENSMUSG00000048485

Gene Name

zinc finger and BTB domain containing 8b

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.358) question?

Stock #

R9417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129319558-129334646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129326517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 216 (D216G)

Ref Sequence

ENSEMBL: ENSMUSP00000101661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053042] [ENSMUST00000106046]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053042
AA Change: D183G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058157
Gene: ENSMUSG00000048485
AA Change: D183G

Domain	Start	End	E-Value	Type
BTB	24	122	1.89e-25	SMART
low complexity region	132	149	N/A	INTRINSIC
ZnF_C2H2	331	353	1.12e-3	SMART
ZnF_C2H2	359	382	1.95e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106046
AA Change: D216G

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

SMART Domains

Protein: ENSMUSP00000101661
Gene: ENSMUSG00000048485
AA Change: D216G

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
BTB	57	155	1.89e-25	SMART
low complexity region	165	182	N/A	INTRINSIC
ZnF_C2H2	364	386	1.12e-3	SMART
ZnF_C2H2	392	415	1.95e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,202 (GRCm39)	Y139H	unknown	Het
Akr1b10	T	C	6: 34,371,027 (GRCm39)	V259A	probably benign	Het
Aldh5a1	A	T	13: 25,095,673 (GRCm39)	N481K	probably damaging	Het
Ankrd26	A	T	6: 118,504,725 (GRCm39)	M728K	possibly damaging	Het
Asic1	A	G	15: 99,590,405 (GRCm39)	M52V	probably benign	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna2d2	C	A	9: 107,392,689 (GRCm39)	Y544*	probably null	Het
Cdcp3	A	G	7: 130,852,218 (GRCm39)	D818G	possibly damaging	Het
Chd4	A	G	6: 125,097,688 (GRCm39)	N1403S	probably damaging	Het
Cldn4	G	T	5: 134,975,174 (GRCm39)	N142K	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dll1	T	C	17: 15,593,710 (GRCm39)	Y219C	probably damaging	Het
Dnah2	T	A	11: 69,326,990 (GRCm39)	I3539F	probably damaging	Het
Egfr	T	A	11: 16,825,067 (GRCm39)	L469*	probably null	Het
Elmo1	A	G	13: 20,756,573 (GRCm39)	N554D	possibly damaging	Het
Fam234a	A	C	17: 26,435,225 (GRCm39)	F306L	probably benign	Het
Fbl	G	A	7: 27,874,052 (GRCm39)	G45D	unknown	Het
Fbxw10	C	A	11: 62,753,522 (GRCm39)	C505*	probably null	Het
Ftcd	G	A	10: 76,417,153 (GRCm39)	G221S	probably damaging	Het
Gad1	A	G	2: 70,417,716 (GRCm39)	D305G	possibly damaging	Het
Gdpd4	A	G	7: 97,607,074 (GRCm39)	D16G	probably benign	Het
Gsdmc3	T	A	15: 63,738,663 (GRCm39)	D133V	possibly damaging	Het
Hpdl	T	C	4: 116,677,817 (GRCm39)	T215A	possibly damaging	Het
Ift56	T	C	6: 38,386,386 (GRCm39)	F369S	probably damaging	Het
Igsf10	A	T	3: 59,236,526 (GRCm39)	N1218K	possibly damaging	Het
Isg20	C	T	7: 78,569,605 (GRCm39)	P192L	probably benign	Het
Itga7	C	T	10: 128,793,543 (GRCm39)	T126M	unknown	Het
Krr1	A	G	10: 111,813,026 (GRCm39)	I134V	probably benign	Het
Krt71	T	A	15: 101,646,731 (GRCm39)	T326S	probably benign	Het
Lamb1	T	A	12: 31,337,983 (GRCm39)	V480E	probably damaging	Het
Mmp19	T	A	10: 128,630,523 (GRCm39)	L102Q	possibly damaging	Het
Mtor	T	A	4: 148,622,776 (GRCm39)	L1952*	probably null	Het
Myo15a	T	A	11: 60,378,243 (GRCm39)	V215E		Het
Nfs1	T	A	2: 155,965,851 (GRCm39)	K77*	probably null	Het
Or52s1	A	T	7: 102,861,156 (GRCm39)	I30F	possibly damaging	Het
Or9a4	T	A	6: 40,549,096 (GRCm39)	Y259N		Het
Pcdhga4	T	C	18: 37,820,560 (GRCm39)	F703S	probably damaging	Het
Pdzd7	A	G	19: 45,034,022 (GRCm39)	S21P	probably damaging	Het
Pitrm1	A	T	13: 6,617,394 (GRCm39)	I583F	possibly damaging	Het
Ppox	A	G	1: 171,107,855 (GRCm39)	L77P	unknown	Het
Ppp1r37	G	T	7: 19,269,658 (GRCm39)	R114S	probably damaging	Het
Ppp4r3b	T	C	11: 29,144,598 (GRCm39)	V316A	probably benign	Het
Ptprd	A	G	4: 75,865,335 (GRCm39)	I1214T	probably damaging	Het
Rasal3	A	G	17: 32,615,441 (GRCm39)	F466L	probably benign	Het
Ric8b	A	T	10: 84,761,447 (GRCm39)	D41V	probably benign	Het
Rin2	T	C	2: 145,686,713 (GRCm39)	S81P	probably benign	Het
Sft2d1	T	A	17: 8,542,139 (GRCm39)	C128S	probably damaging	Het
Skint1	T	C	4: 111,878,509 (GRCm39)	V147A	probably benign	Het
Slc9c1	T	C	16: 45,413,848 (GRCm39)	V992A	probably benign	Het
Sst	A	G	16: 23,708,487 (GRCm39)	S115P	probably damaging	Het
Sv2b	G	T	7: 74,769,772 (GRCm39)	S590Y	probably damaging	Het
Syne1	C	T	10: 5,082,021 (GRCm39)	V868I	probably benign	Het
Tex35	T	C	1: 156,934,789 (GRCm39)	I42V	possibly damaging	Het
Tlr2	T	C	3: 83,744,892 (GRCm39)	N397S	probably damaging	Het
Tmem202	A	G	9: 59,431,999 (GRCm39)		probably null	Het
Usp20	A	G	2: 30,873,030 (GRCm39)		probably null	Het
Usp32	C	T	11: 84,885,369 (GRCm39)	R1226Q	probably damaging	Het
Usp47	C	T	7: 111,688,801 (GRCm39)	A736V	possibly damaging	Het
Vmn2r-ps117	T	A	17: 19,044,037 (GRCm39)	L371*	probably null	Het
Wwp1	T	A	4: 19,662,215 (GRCm39)	N127Y	possibly damaging	Het
Yae1d1	A	T	13: 18,167,770 (GRCm39)	V41D	probably damaging	Het
Zfp462	T	C	4: 55,016,988 (GRCm39)	S903P	probably benign	Het
Zranb1	G	A	7: 132,585,466 (GRCm39)	G638D	probably damaging	Het

Other mutations in Zbtb8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01358:Zbtb8b	APN	4	129,327,052 (GRCm39)	missense	probably damaging	0.96
IGL01989:Zbtb8b	APN	4	129,326,181 (GRCm39)	missense	probably damaging	1.00
IGL03332:Zbtb8b	APN	4	129,322,361 (GRCm39)	missense	probably damaging	1.00
N/A:Zbtb8b	UTSW	4	129,326,361 (GRCm39)	missense	probably benign
PIT4131001:Zbtb8b	UTSW	4	129,321,308 (GRCm39)	makesense	probably null
R0391:Zbtb8b	UTSW	4	129,326,463 (GRCm39)	missense	probably damaging	1.00
R2389:Zbtb8b	UTSW	4	129,327,066 (GRCm39)	missense	probably benign	0.25
R2392:Zbtb8b	UTSW	4	129,326,982 (GRCm39)	missense	probably damaging	1.00
R2760:Zbtb8b	UTSW	4	129,326,293 (GRCm39)	missense	probably benign	0.04
R5028:Zbtb8b	UTSW	4	129,326,793 (GRCm39)	missense	probably damaging	1.00
R5572:Zbtb8b	UTSW	4	129,322,334 (GRCm39)	missense	probably damaging	1.00
R6029:Zbtb8b	UTSW	4	129,322,286 (GRCm39)	missense	probably damaging	1.00
R6671:Zbtb8b	UTSW	4	129,321,577 (GRCm39)	missense	probably damaging	0.99
R6714:Zbtb8b	UTSW	4	129,326,776 (GRCm39)	missense	probably damaging	1.00
R7039:Zbtb8b	UTSW	4	129,321,478 (GRCm39)	missense	possibly damaging	0.48
R7392:Zbtb8b	UTSW	4	129,326,683 (GRCm39)	missense	probably benign	0.01
R7454:Zbtb8b	UTSW	4	129,326,562 (GRCm39)	missense	possibly damaging	0.75
R7634:Zbtb8b	UTSW	4	129,326,755 (GRCm39)	missense	probably damaging	1.00
R8017:Zbtb8b	UTSW	4	129,322,238 (GRCm39)	missense	probably damaging	1.00
R8444:Zbtb8b	UTSW	4	129,326,424 (GRCm39)	missense	probably benign
R9366:Zbtb8b	UTSW	4	129,326,151 (GRCm39)	missense	probably benign	0.01
R9467:Zbtb8b	UTSW	4	129,326,319 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CGGCATATTGCTGTAGCTGTTC -3'
(R):5'- CCTGCAGATGAATGAGGTGGTC -3'

Sequencing Primer
(F):5'- CATATTGCTGTAGCTGTTCGTCAG -3'
(R):5'- CTGTAAGACGTACATCAGGTCGTC -3'

Posted On

2022-05-16