Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Zfp747'

534395

Institutional Source

Beutler Lab

Gene Symbol

Zfp747

Ensembl Gene

ENSMUSG00000054381

Gene Name

zinc finger protein 747

Synonyms

6430604K15Rik

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126971709-126975222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126973219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 317 (E317G)

Ref Sequence

ENSEMBL: ENSMUSP00000070685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067425] [ENSMUST00000205832]

AlphaFold

Q8BHM7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067425
AA Change: E317G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070685
Gene: ENSMUSG00000054381
AA Change: E317G

Domain	Start	End	E-Value	Type
KRAB	22	82	3.64e-26	SMART
low complexity region	102	115	N/A	INTRINSIC
ZnF_C2H2	152	174	3.63e-3	SMART
ZnF_C2H2	180	202	1.47e-3	SMART
ZnF_C2H2	208	230	6.42e-4	SMART
ZnF_C2H2	236	258	3.63e-3	SMART
ZnF_C2H2	264	286	1.13e-4	SMART
ZnF_C2H2	292	314	1.45e-2	SMART
ZnF_C2H2	320	342	1.5e-4	SMART
ZnF_C2H2	348	371	2.49e-1	SMART
ZnF_C2H2	377	399	3.69e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205832

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Morc3	A	T	16: 93,644,309 (GRCm39)	N200I	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het

Other mutations in Zfp747

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02964:Zfp747	APN	7	126,973,666 (GRCm39)	missense	probably benign	0.21
IGL03201:Zfp747	APN	7	126,973,180 (GRCm39)	missense	probably damaging	0.99
R0066:Zfp747	UTSW	7	126,973,772 (GRCm39)	missense	probably benign	0.00
R1056:Zfp747	UTSW	7	126,973,760 (GRCm39)	missense	probably benign
R1190:Zfp747	UTSW	7	126,973,726 (GRCm39)	missense	probably damaging	0.99
R1457:Zfp747	UTSW	7	126,973,676 (GRCm39)	missense	probably benign	0.37
R1727:Zfp747	UTSW	7	126,973,249 (GRCm39)	missense	probably damaging	0.99
R2072:Zfp747	UTSW	7	126,973,142 (GRCm39)	missense	possibly damaging	0.48
R2157:Zfp747	UTSW	7	126,974,929 (GRCm39)	missense	possibly damaging	0.92
R3724:Zfp747	UTSW	7	126,973,762 (GRCm39)	missense	probably benign	0.06
R4762:Zfp747	UTSW	7	126,973,498 (GRCm39)	missense	possibly damaging	0.92
R4770:Zfp747	UTSW	7	126,974,971 (GRCm39)	missense	probably damaging	0.99
R5135:Zfp747	UTSW	7	126,973,566 (GRCm39)	missense	probably damaging	0.98
R5355:Zfp747	UTSW	7	126,973,769 (GRCm39)	missense	possibly damaging	0.85
R6232:Zfp747	UTSW	7	126,973,306 (GRCm39)	missense	probably damaging	1.00
R6263:Zfp747	UTSW	7	126,975,138 (GRCm39)	start gained	probably benign
R7638:Zfp747	UTSW	7	126,973,819 (GRCm39)	missense	probably benign	0.09
R7735:Zfp747	UTSW	7	126,973,672 (GRCm39)	missense	probably damaging	0.99
R8043:Zfp747	UTSW	7	126,973,225 (GRCm39)	missense	probably benign	0.00
R8543:Zfp747	UTSW	7	126,973,655 (GRCm39)	missense	probably damaging	0.99
R9132:Zfp747	UTSW	7	126,974,922 (GRCm39)	missense	probably damaging	0.99
R9329:Zfp747	UTSW	7	126,973,655 (GRCm39)	missense	probably damaging	0.99
R9415:Zfp747	UTSW	7	126,973,198 (GRCm39)	missense	possibly damaging	0.71
Z1176:Zfp747	UTSW	7	126,974,631 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGGAATCCGCAAAGGCAC -3'
(R):5'- ATTCCTCCCTGAGCATGCAC -3'

Sequencing Primer
(F):5'- CAAGAAAAGGGGGTCACACC -3'
(R):5'- CCATACACCGAGGGGAACG -3'

Posted On

2018-09-12