Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02397:Zbtb7c'

291731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb7c

Ensembl Gene

ENSMUSG00000044646

Gene Name

zinc finger and BTB domain containing 7C

Synonyms

Kr-pok, B230208J24Rik, Zbtb36

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

IGL02397

Quality Score

Status

Chromosome

Chromosomal Location

75820178-76148561 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76136976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 45 (Y45F)

Ref Sequence

ENSEMBL: ENSMUSP00000126808 (fasta)

Gene Model

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

AlphaFold

Q8VCZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058997
AA Change: Y45F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057856
Gene: ENSMUSG00000044646
AA Change: Y45F

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

possibly damaging
Transcript: ENSMUST00000167921
AA Change: Y45F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126808
Gene: ENSMUSG00000044646
AA Change: Y45F

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

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,646,875	N400S	probably benign	Het
Adam12	T	A	7: 133,909,819		probably benign	Het
Adam5	T	C	8: 24,744,133		probably benign	Het
Amn	A	T	12: 111,274,479	Y139F	possibly damaging	Het
Ano10	C	A	9: 122,261,392	R285L	probably damaging	Het
Atad2b	A	G	12: 4,974,046	Y57C	probably damaging	Het
Brd8	T	C	18: 34,604,873	K786R	probably damaging	Het
Cacna2d1	T	C	5: 16,320,164		probably benign	Het
Card9	C	T	2: 26,352,329	D532N	probably damaging	Het
Cd22	T	C	7: 30,877,625	T86A	probably benign	Het
Cebpz	A	T	17: 78,923,261	D842E	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	A	G	1: 10,108,465	N713S	possibly damaging	Het
Eml5	T	C	12: 98,790,674	T1899A	probably benign	Het
Fpgs	T	C	2: 32,685,789	T381A	probably damaging	Het
Frmd7	G	A	X: 50,895,898	T465I	possibly damaging	Het
Gm9837	A	T	11: 53,470,160		probably benign	Het
Hectd3	C	A	4: 117,003,136	A816D	possibly damaging	Het
Itpripl2	A	G	7: 118,490,296	W347R	probably damaging	Het
Kcnc3	A	G	7: 44,595,794	T503A	probably damaging	Het
Mmadhc	T	C	2: 50,288,980	E142G	possibly damaging	Het
Nabp2	T	A	10: 128,408,323	N138I	possibly damaging	Het
Obscn	A	G	11: 59,076,899	V2902A	possibly damaging	Het
Rbm8a2	T	C	1: 175,978,638	D91G	probably damaging	Het
Samd3	A	T	10: 26,233,576	Y134F	possibly damaging	Het
Slc11a2	A	G	15: 100,401,649	F58S	probably damaging	Het
Slitrk4	T	C	X: 64,272,684	T126A	probably damaging	Het
Sspo	C	A	6: 48,461,638	P1547T	probably benign	Het
Tecta	T	C	9: 42,394,998	S45G	probably damaging	Het
Tenm3	T	C	8: 48,236,694	T1937A	possibly damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trmt1l	T	A	1: 151,439,531	I156N	probably damaging	Het
Vmn1r71	C	T	7: 10,748,272	R163Q	probably benign	Het
Ythdf2	C	T	4: 132,211,446	G13D	probably damaging	Het
Zfc3h1	G	A	10: 115,407,985	M740I	probably damaging	Het

Other mutations in Zbtb7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Zbtb7c	APN	18	76145850	missense	possibly damaging	0.92
IGL02314:Zbtb7c	APN	18	76145866	missense	probably damaging	0.99
R0112:Zbtb7c	UTSW	18	76136891	missense	probably damaging	1.00
R0374:Zbtb7c	UTSW	18	76137393	missense	probably benign	0.01
R1485:Zbtb7c	UTSW	18	76136990	missense	probably damaging	1.00
R1818:Zbtb7c	UTSW	18	76137525	missense	probably damaging	1.00
R1866:Zbtb7c	UTSW	18	76136906	missense	probably benign	0.16
R3737:Zbtb7c	UTSW	18	76136940	missense	probably damaging	1.00
R4611:Zbtb7c	UTSW	18	76136847	missense	possibly damaging	0.81
R4737:Zbtb7c	UTSW	18	76146154	missense	probably benign	0.15
R5080:Zbtb7c	UTSW	18	76137342	missense	probably benign	0.06
R6160:Zbtb7c	UTSW	18	76145833	missense	probably benign	0.05
R6262:Zbtb7c	UTSW	18	76137342	missense	probably benign
R7193:Zbtb7c	UTSW	18	76137938	missense	probably damaging	1.00
R7703:Zbtb7c	UTSW	18	76137362	missense	probably benign	0.02
R7849:Zbtb7c	UTSW	18	76145701	missense	probably benign	0.40
R8047:Zbtb7c	UTSW	18	76137150	missense	probably damaging	0.98
R8157:Zbtb7c	UTSW	18	76137327	missense	probably benign	0.05
R8809:Zbtb7c	UTSW	18	76137119	missense	probably damaging	1.00
R8903:Zbtb7c	UTSW	18	76137081	missense	probably damaging	1.00
R8982:Zbtb7c	UTSW	18	76146273	missense	probably damaging	1.00

Posted On

2015-04-16