Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4514001:Zbtb8a'

556259

Institutional Source

Beutler Lab

Gene Symbol

Zbtb8a

Ensembl Gene

ENSMUSG00000028807

Gene Name

zinc finger and BTB domain containing 8a

Synonyms

2410081M15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

PIT4514001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129247425-129271821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129251523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Ref Sequence

ENSEMBL: ENSMUSP00000030610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030610] [ENSMUST00000146767]

AlphaFold

Q9CWH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030610
AA Change: D316G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030610
Gene: ENSMUSG00000028807
AA Change: D316G

Domain	Start	End	E-Value	Type
BTB	24	122	2.49e-25	SMART
ZnF_C2H2	275	297	2.2e-2	SMART
ZnF_C2H2	303	326	4.17e-3	SMART
low complexity region	422	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146767

SMART Domains

Protein: ENSMUSP00000114628
Gene: ENSMUSG00000057572

Domain	Start	End	E-Value	Type
Pfam:Archease	31	145	3.5e-40	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.6%
10x: 84.2%
20x: 70.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 61,001,328 (GRCm39)		probably null	Het
Aadacl4fm2	T	C	4: 144,282,081 (GRCm39)	Y237C	probably damaging	Het
Abcc10	T	A	17: 46,616,574 (GRCm39)	I1247F	probably benign	Het
Acap3	G	A	4: 155,987,835 (GRCm39)	A524T	probably benign	Het
Adcy10	T	A	1: 165,384,360 (GRCm39)	N1040K	probably benign	Het
Adrb2	T	C	18: 62,312,798 (GRCm39)	D9G	probably benign	Het
Aldh1a7	T	C	19: 20,679,604 (GRCm39)	T391A	probably benign	Het
Bcam	A	G	7: 19,497,991 (GRCm39)	V344A	probably benign	Het
Birc7	T	A	2: 180,573,099 (GRCm39)	I172N	possibly damaging	Het
Cfap126	G	A	1: 170,952,881 (GRCm39)	D45N	probably damaging	Het
Cfap299	T	A	5: 98,949,730 (GRCm39)	H221Q	probably benign	Het
Cit	G	A	5: 116,135,913 (GRCm39)		probably null	Het
Col26a1	A	G	5: 136,780,579 (GRCm39)	V295A	probably benign	Het
Efcab15	T	C	11: 103,091,960 (GRCm39)	D27G	probably benign	Het
Epha7	C	T	4: 28,961,355 (GRCm39)	Q867*	probably null	Het
Fn1	A	G	1: 71,667,615 (GRCm39)	S793P	probably benign	Het
Foxb1	T	A	9: 69,667,503 (GRCm39)	Y9F	probably damaging	Het
Gpc1	T	A	1: 92,785,279 (GRCm39)	M406K	probably benign	Het
Gsg1	T	C	6: 135,214,574 (GRCm39)	T312A	probably benign	Het
Hmcn1	T	A	1: 150,545,238 (GRCm39)	I2790F	possibly damaging	Het
Kcnma1	C	T	14: 23,359,103 (GRCm39)		probably null	Het
Lmntd1	AGACTGTAAGTTTCTCAAATGTGTACCTGGA	AGA	6: 145,372,979 (GRCm39)		probably null	Het
Mcph1	A	G	8: 18,681,906 (GRCm39)	K348E	probably damaging	Het
Or10al6	T	A	17: 38,082,758 (GRCm39)	N71K	probably damaging	Het
Or8d4	T	C	9: 40,038,595 (GRCm39)	I221V	probably damaging	Het
Pik3cg	T	A	12: 32,254,902 (GRCm39)	R362W	probably damaging	Het
Pkp3	T	C	7: 140,669,623 (GRCm39)	L765P	probably damaging	Het
Plxna2	A	T	1: 194,477,245 (GRCm39)	I1252F	probably benign	Het
Prpf8	T	C	11: 75,387,181 (GRCm39)	F1154S	possibly damaging	Het
Scn7a	A	G	2: 66,514,523 (GRCm39)	F1084L	probably damaging	Het
Shmt1	G	A	11: 60,695,173 (GRCm39)	S47L	probably damaging	Het
Snap91	T	C	9: 86,761,486 (GRCm39)	K40R	possibly damaging	Het
Spag17	A	T	3: 99,920,527 (GRCm39)	T421S	possibly damaging	Het
Speer4f1	T	A	5: 17,683,754 (GRCm39)	N139K	possibly damaging	Het
Syne2	T	G	12: 76,151,789 (GRCm39)	N1883K	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Tmem39b	A	C	4: 129,578,290 (GRCm39)	N310K	possibly damaging	Het
Trim3	T	C	7: 105,267,417 (GRCm39)	T321A	probably benign	Het
Vmn2r124	T	C	17: 18,293,974 (GRCm39)	I687T	probably benign	Het
Zfp639	A	G	3: 32,574,409 (GRCm39)	I345V	possibly damaging	Het
Zfp764	T	C	7: 127,003,913 (GRCm39)	H406R	probably benign	Het

Other mutations in Zbtb8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01758:Zbtb8a	APN	4	129,251,640 (GRCm39)	missense	probably damaging	1.00
R1033:Zbtb8a	UTSW	4	129,248,014 (GRCm39)	missense	possibly damaging	0.82
R1183:Zbtb8a	UTSW	4	129,251,520 (GRCm39)	missense	possibly damaging	0.94
R1755:Zbtb8a	UTSW	4	129,248,110 (GRCm39)	missense	possibly damaging	0.71
R2426:Zbtb8a	UTSW	4	129,254,012 (GRCm39)	missense	probably benign	0.00
R2520:Zbtb8a	UTSW	4	129,253,689 (GRCm39)	critical splice donor site	probably null
R5044:Zbtb8a	UTSW	4	129,254,293 (GRCm39)	missense	probably damaging	1.00
R6357:Zbtb8a	UTSW	4	129,248,092 (GRCm39)	missense	probably benign
R7129:Zbtb8a	UTSW	4	129,254,188 (GRCm39)	missense	probably damaging	1.00
R7352:Zbtb8a	UTSW	4	129,253,874 (GRCm39)	missense	probably benign	0.00
R7754:Zbtb8a	UTSW	4	129,251,496 (GRCm39)	critical splice donor site	probably null
R9036:Zbtb8a	UTSW	4	129,248,059 (GRCm39)	missense	probably benign	0.13
R9174:Zbtb8a	UTSW	4	129,254,125 (GRCm39)	missense	probably damaging	1.00
R9176:Zbtb8a	UTSW	4	129,254,221 (GRCm39)	missense	probably damaging	1.00
R9267:Zbtb8a	UTSW	4	129,248,267 (GRCm39)	nonsense	probably null
R9480:Zbtb8a	UTSW	4	129,253,875 (GRCm39)	missense	probably benign	0.03
T0722:Zbtb8a	UTSW	4	129,254,005 (GRCm39)	missense	probably benign
T0722:Zbtb8a	UTSW	4	129,253,812 (GRCm39)	small insertion	probably benign
T0975:Zbtb8a	UTSW	4	129,254,005 (GRCm39)	missense	probably benign
T0975:Zbtb8a	UTSW	4	129,253,812 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTACTTCAGGGCCTCAAATGAG -3'
(R):5'- CAGTGATGTAATCCAACTGTCTCCT -3'

Sequencing Primer
(F):5'- AGACCTTGCTTAGCATGCAG -3'
(R):5'- GTCTCCTGACAGATGACCTGAC -3'

Posted On

2019-06-07