Mutagenetix > Incidental Mutation

Incidental Mutation 'R5080:Zbtb7c'

387103

Institutional Source

Beutler Lab

Gene Symbol

Zbtb7c

Ensembl Gene

ENSMUSG00000044646

Gene Name

zinc finger and BTB domain containing 7C

Synonyms

Kr-pok, Zbtb36, B230208J24Rik

MMRRC Submission

042669-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R5080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75953249-76281635 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76270413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 167 (D167A)

Ref Sequence

ENSEMBL: ENSMUSP00000126808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058997] [ENSMUST00000167921]

AlphaFold

Q8VCZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000058997
AA Change: D167A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: D167A

Domain	Start	End	E-Value	Type
BTB	34	131	1.13e-28	SMART
coiled coil region	144	167	N/A	INTRINSIC
low complexity region	290	316	N/A	INTRINSIC
ZnF_C2H2	364	386	1.89e-1	SMART
ZnF_C2H2	392	414	4.87e-4	SMART
ZnF_C2H2	420	442	1.92e-2	SMART
ZnF_C2H2	448	468	1.55e1	SMART
low complexity region	564	584	N/A	INTRINSIC
low complexity region	590	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167921
AA Change: D167A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: D167A

Domain	Start	End	E-Value	Type
BTB	34	131	1.13e-28	SMART
coiled coil region	144	167	N/A	INTRINSIC
low complexity region	290	316	N/A	INTRINSIC
ZnF_C2H2	364	386	1.89e-1	SMART
ZnF_C2H2	392	414	4.87e-4	SMART
ZnF_C2H2	420	442	1.92e-2	SMART
ZnF_C2H2	448	468	1.55e1	SMART
low complexity region	564	584	N/A	INTRINSIC
low complexity region	590	608	N/A	INTRINSIC

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.5%

Validation Efficiency

96% (54/56)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation exhibit decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	G	A	14: 103,286,744 (GRCm39)	G16S	possibly damaging	Het
Adcy4	A	T	14: 56,009,832 (GRCm39)	M740K	probably damaging	Het
Atp1a2	T	C	1: 172,112,012 (GRCm39)		probably benign	Het
Atrn	T	A	2: 130,812,044 (GRCm39)	I663N	possibly damaging	Het
Cacna2d1	T	C	5: 16,567,394 (GRCm39)		probably null	Het
Carf	C	A	1: 60,189,772 (GRCm39)	Q631K	probably damaging	Het
Ces1d	T	C	8: 93,908,175 (GRCm39)	D306G	probably benign	Het
Corin	T	A	5: 72,511,194 (GRCm39)		probably benign	Het
Csf1r	T	C	18: 61,257,373 (GRCm39)	F575L	probably damaging	Het
Dcaf6	T	C	1: 165,247,690 (GRCm39)	D181G	probably damaging	Het
Dnah11	C	T	12: 118,162,565 (GRCm39)	M1I	probably null	Het
Dnah7b	C	T	1: 46,221,540 (GRCm39)	R1215*	probably null	Het
Dpp3	T	A	19: 4,965,108 (GRCm39)	D464V	probably benign	Het
Drosha	C	A	15: 12,842,229 (GRCm39)	A344D	probably benign	Het
Fat3	G	T	9: 15,910,634 (GRCm39)	S1789R	probably benign	Het
Fhip2a	A	T	19: 57,361,713 (GRCm39)	K134I	probably damaging	Het
Frg2f1	T	C	4: 119,388,230 (GRCm39)	T90A	possibly damaging	Het
Frrs1	T	C	3: 116,696,585 (GRCm39)	I544T	probably benign	Het
Gm20939	T	C	17: 95,184,419 (GRCm39)	C356R	probably damaging	Het
Ifi206	T	A	1: 173,301,414 (GRCm39)	I755F	possibly damaging	Het
Kntc1	T	A	5: 123,900,649 (GRCm39)	V249E	possibly damaging	Het
Lama5	A	T	2: 179,848,993 (GRCm39)	L230*	probably null	Het
Lce1e	C	T	3: 92,615,137 (GRCm39)	C70Y	unknown	Het
Ltbp2	T	C	12: 84,850,638 (GRCm39)	N892S	probably damaging	Het
Mfsd4b5	T	A	10: 39,846,570 (GRCm39)	M337L	probably damaging	Het
Noxo1	T	A	17: 24,918,331 (GRCm39)	C164S	probably damaging	Het
Or2y1b	G	T	11: 49,208,914 (GRCm39)	M180I	probably benign	Het
Or5j3	G	A	2: 86,128,258 (GRCm39)	V33M	probably benign	Het
Osbpl6	T	C	2: 76,354,429 (GRCm39)	S15P	probably benign	Het
Pcdh17	A	G	14: 84,770,750 (GRCm39)	Y1076C	probably benign	Het
Pik3c2a	T	A	7: 115,947,509 (GRCm39)	H1391L	probably damaging	Het
Plcg2	A	G	8: 118,316,742 (GRCm39)	Y573C	probably benign	Het
Prpf3	T	A	3: 95,741,109 (GRCm39)	H600L	probably benign	Het
Rilpl2	T	C	5: 124,607,876 (GRCm39)	T115A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,446 (GRCm39)		noncoding transcript	Het
Serpini1	T	C	3: 75,523,967 (GRCm39)	S192P	probably damaging	Het
Sp110	G	T	1: 85,523,776 (GRCm39)	Y18*	probably null	Het
Stard6	A	T	18: 70,629,293 (GRCm39)	I126F	probably damaging	Het
Strip2	T	A	6: 29,945,592 (GRCm39)	L660H	probably damaging	Het
Tmed3	G	A	9: 89,581,825 (GRCm39)	R213*	probably null	Het
Tns1	G	T	1: 73,992,099 (GRCm39)	P860T	probably damaging	Het
Togaram1	T	C	12: 65,030,177 (GRCm39)	S994P	probably benign	Het
Tomm34	G	A	2: 163,912,816 (GRCm39)		probably benign	Het
Trank1	G	A	9: 111,218,289 (GRCm39)	E1890K	probably damaging	Het
Wasf3	C	T	5: 146,397,907 (GRCm39)	H225Y	probably benign	Het
Wdr37	A	T	13: 8,897,710 (GRCm39)		probably null	Het
Zkscan4	A	G	13: 21,665,498 (GRCm39)	T158A	probably benign	Het

Other mutations in Zbtb7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Zbtb7c	APN	18	76,278,921 (GRCm39)	missense	possibly damaging	0.92
IGL02314:Zbtb7c	APN	18	76,278,937 (GRCm39)	missense	probably damaging	0.99
IGL02397:Zbtb7c	APN	18	76,270,047 (GRCm39)	missense	possibly damaging	0.63
R0112:Zbtb7c	UTSW	18	76,269,962 (GRCm39)	missense	probably damaging	1.00
R0374:Zbtb7c	UTSW	18	76,270,464 (GRCm39)	missense	probably benign	0.01
R1485:Zbtb7c	UTSW	18	76,270,061 (GRCm39)	missense	probably damaging	1.00
R1818:Zbtb7c	UTSW	18	76,270,596 (GRCm39)	missense	probably damaging	1.00
R1866:Zbtb7c	UTSW	18	76,269,977 (GRCm39)	missense	probably benign	0.16
R3737:Zbtb7c	UTSW	18	76,270,011 (GRCm39)	missense	probably damaging	1.00
R4611:Zbtb7c	UTSW	18	76,269,918 (GRCm39)	missense	possibly damaging	0.81
R4737:Zbtb7c	UTSW	18	76,279,225 (GRCm39)	missense	probably benign	0.15
R6160:Zbtb7c	UTSW	18	76,278,904 (GRCm39)	missense	probably benign	0.05
R6262:Zbtb7c	UTSW	18	76,270,413 (GRCm39)	missense	probably benign
R7193:Zbtb7c	UTSW	18	76,271,009 (GRCm39)	missense	probably damaging	1.00
R7703:Zbtb7c	UTSW	18	76,270,433 (GRCm39)	missense	probably benign	0.02
R7849:Zbtb7c	UTSW	18	76,278,772 (GRCm39)	missense	probably benign	0.40
R8047:Zbtb7c	UTSW	18	76,270,221 (GRCm39)	missense	probably damaging	0.98
R8157:Zbtb7c	UTSW	18	76,270,398 (GRCm39)	missense	probably benign	0.05
R8809:Zbtb7c	UTSW	18	76,270,190 (GRCm39)	missense	probably damaging	1.00
R8903:Zbtb7c	UTSW	18	76,270,152 (GRCm39)	missense	probably damaging	1.00
R8982:Zbtb7c	UTSW	18	76,279,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCACATCCTCAATGCGGC -3'
(R):5'- TTTGGGGTACAAGTTCTCCC -3'

Sequencing Primer
(F):5'- ATCCTCAATGCGGCCAGGATG -3'
(R):5'- AGTTCTCCCTCAGCAGAGATTCAATG -3'

Posted On

2016-06-06