Mutagenetix > Incidental Mutation

Incidental Mutation 'R3724:Zfp747'

270676

Institutional Source

Beutler Lab

Gene Symbol

Zfp747

Ensembl Gene

ENSMUSG00000054381

Gene Name

zinc finger protein 747

Synonyms

6430604K15Rik

MMRRC Submission

040715-MU

Accession Numbers

Essential gene?

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

Stock #

R3724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126971709-126975222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126973762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 136 (V136D)

Ref Sequence

ENSEMBL: ENSMUSP00000070685 (fasta)

Gene Model

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

AlphaFold

Q8BHM7

Predicted Effect

probably benign
Transcript: ENSMUST00000067425
AA Change: V136D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000070685
Gene: ENSMUSG00000054381
AA Change: V136D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206942

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,876,099 (GRCm39)	R133L	probably damaging	Het
Abhd8	G	A	8: 71,914,136 (GRCm39)	A164V	probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atl1	A	G	12: 70,006,154 (GRCm39)	T487A	probably damaging	Het
C2cd6	C	T	1: 59,105,394 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Ccna1	T	C	3: 54,958,353 (GRCm39)	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039 (GRCm39)	C386R	probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ctdp1	C	T	18: 80,502,482 (GRCm39)	V143I	probably benign	Het
Cyp11a1	A	T	9: 57,926,605 (GRCm39)	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,566 (GRCm39)	L956P	probably benign	Het
Enkd1	A	T	8: 106,430,557 (GRCm39)	V326E	possibly damaging	Het
Epha4	A	G	1: 77,403,180 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,254,662 (GRCm39)	D66G	probably damaging	Het
Evi5l	A	G	8: 4,228,080 (GRCm39)		probably benign	Het
Foxf2	A	G	13: 31,814,513 (GRCm39)	K409R	probably damaging	Het
Frem3	A	G	8: 81,341,900 (GRCm39)	T1398A	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gtdc1	T	C	2: 44,646,319 (GRCm39)	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,565,269 (GRCm39)	Y2286F	possibly damaging	Het
Iars1	A	G	13: 49,840,860 (GRCm39)		probably null	Het
Ifna5	A	G	4: 88,754,171 (GRCm39)	E137G	probably damaging	Het
Itih4	G	A	14: 30,614,541 (GRCm39)	E468K	possibly damaging	Het
Kat6a	A	T	8: 23,352,804 (GRCm39)	H196L	probably damaging	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,140,603 (GRCm39)	V680I	probably damaging	Het
Marchf7	T	C	2: 60,060,089 (GRCm39)	I72T	probably benign	Het
Mbd6	C	T	10: 127,119,760 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mindy3	T	A	2: 12,360,165 (GRCm39)	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,355,073 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,020,802 (GRCm39)	T430S	probably benign	Het
Or4ac1-ps1	T	G	2: 88,370,630 (GRCm39)		noncoding transcript	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Prkce	A	T	17: 86,476,051 (GRCm39)	K11*	probably null	Het
Pros1	T	C	16: 62,720,692 (GRCm39)	I117T	possibly damaging	Het
Prpf38b	T	C	3: 108,811,656 (GRCm39)		probably benign	Het
Sh3rf1	T	C	8: 61,825,756 (GRCm39)	S584P	probably benign	Het
Slit2	T	C	5: 48,414,225 (GRCm39)		probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,534,448 (GRCm39)	E280K	probably damaging	Het
Tenm3	A	G	8: 48,730,781 (GRCm39)	I1329T	probably damaging	Het
Tex2	G	A	11: 106,420,156 (GRCm39)	T869I	unknown	Het
Tlk2	A	G	11: 105,138,390 (GRCm39)	T281A	probably benign	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,260,396 (GRCm39)	F702L	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,362,706 (GRCm39)	T693S	probably benign	Het
Zfand2b	A	G	1: 75,146,499 (GRCm39)	K125E	possibly damaging	Het
Zfp422	C	T	6: 116,603,340 (GRCm39)	A220T	probably benign	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
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
R6835:Zfp747	UTSW	7	126,973,219 (GRCm39)	missense	possibly damaging	0.56
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'- CCGGCCAAATCGTTTGTTGC -3'
(R):5'- ACACTGCACATGCTCAGATG -3'

Sequencing Primer
(F):5'- TTGCAGTCTGGGCACTGAAAC -3'
(R):5'- ACATGCTCAGATGCTGTGAC -3'

Posted On

2015-03-18