Mutagenetix > Incidental Mutation

Incidental Mutation 'R9132:Zfp747'

693704

Institutional Source

Beutler Lab

Gene Symbol

Zfp747

Ensembl Gene

ENSMUSG00000054381

Gene Name

zinc finger protein 747

Synonyms

6430604K15Rik

MMRRC Submission

068929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R9132 (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 126974922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000070685 (fasta)

Gene Model

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

AlphaFold

Q8BHM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000067425
AA Change: D26G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070685
Gene: ENSMUSG00000054381
AA Change: D26G

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

possibly damaging
Transcript: ENSMUST00000205832
AA Change: D26G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.4699

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AC133488.1	A	T	16: 18,440,075 (GRCm39)	V363E	probably benign	Het
Adamts16	A	G	13: 70,901,408 (GRCm39)	S890P	probably benign	Het
Amd1	A	G	10: 40,169,158 (GRCm39)		probably null	Het
Apcs	A	G	1: 172,722,061 (GRCm39)	I95T	probably damaging	Het
Arhgap18	A	G	10: 26,730,886 (GRCm39)	D188G	probably benign	Het
Arhgap42	C	T	9: 9,011,419 (GRCm39)	V456M	probably damaging	Het
Atp2a2	T	C	5: 122,599,633 (GRCm39)	Y586C	probably damaging	Het
Cbr1	G	C	16: 93,406,794 (GRCm39)	G170A	probably benign	Het
Cdh23	T	A	10: 60,270,283 (GRCm39)		probably benign	Het
Cfap53	T	A	18: 74,416,272 (GRCm39)	Y2N	probably damaging	Het
Clcn3	A	G	8: 61,382,136 (GRCm39)	I511T	probably damaging	Het
Col28a1	T	A	6: 8,014,993 (GRCm39)	D804V	probably damaging	Het
Csmd2	A	G	4: 128,443,007 (GRCm39)	T3253A		Het
Csta3	G	A	16: 36,038,069 (GRCm39)	V69I	probably benign	Het
Cyp2c40	A	T	19: 39,762,317 (GRCm39)	D443E	probably damaging	Het
Cyp7b1	A	G	3: 18,151,476 (GRCm39)	C246R	probably benign	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnai4	A	G	4: 102,916,930 (GRCm39)	M592T	probably damaging	Het
Dpyd	T	A	3: 118,710,897 (GRCm39)	I435N	probably damaging	Het
Fat2	A	T	11: 55,189,436 (GRCm39)	L1194Q	possibly damaging	Het
Firrm	A	G	1: 163,814,514 (GRCm39)	I143T	probably damaging	Het
Gabrg1	A	T	5: 70,939,622 (GRCm39)	I170N	possibly damaging	Het
Gon4l	C	T	3: 88,815,484 (GRCm39)	P2016S	probably benign	Het
Hax1	T	C	3: 89,903,127 (GRCm39)	R251G	probably damaging	Het
Hbq1b	A	T	11: 32,237,228 (GRCm39)	K41*	probably null	Het
Ido2	G	A	8: 25,023,933 (GRCm39)	P302S	probably damaging	Het
Igf2bp2	G	A	16: 21,900,502 (GRCm39)	T213I	probably damaging	Het
Itga2	A	T	13: 115,014,298 (GRCm39)	L210*	probably null	Het
Kdm1b	G	A	13: 47,225,458 (GRCm39)	S547N	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lyz2	A	T	10: 117,116,562 (GRCm39)	C95*	probably null	Het
Mafa	A	T	15: 75,619,048 (GRCm39)	S242T	possibly damaging	Het
Mapk1	T	C	16: 16,856,300 (GRCm39)		probably null	Het
Mta1	T	A	12: 113,100,025 (GRCm39)	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Naa35	T	C	13: 59,772,341 (GRCm39)	I438T	possibly damaging	Het
Necab2	T	C	8: 120,189,303 (GRCm39)	Y158H	probably damaging	Het
Nphp3	T	A	9: 103,897,980 (GRCm39)	L523Q	probably damaging	Het
Ogdh	A	T	11: 6,290,488 (GRCm39)	I369F	probably benign	Het
Pglyrp4	C	T	3: 90,635,238 (GRCm39)	Q28*	probably null	Het
Pla2g4a	C	T	1: 149,747,230 (GRCm39)	V319I	probably benign	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Prdm6	C	A	18: 53,598,019 (GRCm39)	A127D	unknown	Het
Prop1	T	G	11: 50,843,037 (GRCm39)	E50A		Het
Ripk1	A	G	13: 34,212,184 (GRCm39)	N498S	probably benign	Het
Rnf213	A	G	11: 119,374,742 (GRCm39)	N5069S		Het
Saa3	T	C	7: 46,362,121 (GRCm39)	D41G	probably damaging	Het
Setd2	T	C	9: 110,374,385 (GRCm39)		probably null	Het
Shbg	G	A	11: 69,506,430 (GRCm39)	L327F	probably benign	Het
Slc12a5	G	A	2: 164,835,876 (GRCm39)		probably benign	Het
Slc1a4	C	T	11: 20,258,527 (GRCm39)	G304D	probably damaging	Het
Slf1	T	C	13: 77,249,073 (GRCm39)	K372E	probably benign	Het
Smad2	T	A	18: 76,395,573 (GRCm39)	I4N	possibly damaging	Het
Smad6	A	C	9: 63,914,870 (GRCm39)	S300A	probably benign	Het
Spata31h1	T	C	10: 82,127,896 (GRCm39)	T1705A	possibly damaging	Het
Spem2	T	A	11: 69,707,414 (GRCm39)		probably benign	Het
Syde1	T	C	10: 78,425,340 (GRCm39)	S224G	probably benign	Het
Tacc1	A	T	8: 25,672,151 (GRCm39)	V359E	possibly damaging	Het
Tex15	T	G	8: 34,067,554 (GRCm39)	V2328G	possibly damaging	Het
Tmem43	A	C	6: 91,459,291 (GRCm39)	D254A	probably benign	Het
Trav6d-3	T	A	14: 52,964,210 (GRCm39)	Y58N	possibly damaging	Het
Trrap	A	G	5: 144,726,362 (GRCm39)	E437G	probably benign	Het
Wars1	A	G	12: 108,827,199 (GRCm39)	F474L	probably benign	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp541	T	A	7: 15,816,966 (GRCm39)	V918D	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
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
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
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'- CAAACCCACTAGTCAGGAGG -3'
(R):5'- CTACGTTAAGGTGCACACGG -3'

Sequencing Primer
(F):5'- TCAGGAGGACGACCCAGTTG -3'
(R):5'- ACACGGACCTGGTTCCTGTC -3'

Posted On

2022-01-20