Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Zfp758'

533557

Institutional Source

Beutler Lab

Gene Symbol

Zfp758

Ensembl Gene

ENSMUSG00000044501

Gene Name

zinc finger protein 758

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R6805 (G1)

Quality Score

116.008

Status

Validated

Chromosome

Chromosomal Location

22361453-22377281 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22361669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 30 (T30A)

Ref Sequence

ENSEMBL: ENSMUSP00000121288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072477] [ENSMUST00000088765] [ENSMUST00000115535] [ENSMUST00000121315] [ENSMUST00000149699]

AlphaFold

E9QAA1

Predicted Effect

probably benign
Transcript: ENSMUST00000072477

SMART Domains

Protein: ENSMUSP00000072298
Gene: ENSMUSG00000044501

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088765

SMART Domains

Protein: ENSMUSP00000086143
Gene: ENSMUSG00000044501

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115535

SMART Domains

Protein: ENSMUSP00000111197
Gene: ENSMUSG00000033972

Domain	Start	End	E-Value	Type
KRAB	13	76	2.08e-21	SMART
ZnF_C2H2	183	205	1.01e-1	SMART
ZnF_C2H2	211	233	1.07e0	SMART
ZnF_C2H2	239	261	1.95e-3	SMART
ZnF_C2H2	267	289	1.22e-4	SMART
ZnF_C2H2	295	317	2.24e-3	SMART
ZnF_C2H2	323	345	1.82e-3	SMART
ZnF_C2H2	351	373	5.99e-4	SMART
ZnF_C2H2	379	401	4.79e-3	SMART
ZnF_C2H2	407	429	2.99e-4	SMART
ZnF_C2H2	435	457	4.17e-3	SMART
ZnF_C2H2	463	485	1.36e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121315

SMART Domains

Protein: ENSMUSP00000113532
Gene: ENSMUSG00000044501

Domain	Start	End	E-Value	Type
KRAB	13	73	1.55e-20	SMART
ZnF_C2H2	177	199	6.92e0	SMART
ZnF_C2H2	205	227	6.32e-3	SMART
ZnF_C2H2	233	255	1.2e-3	SMART
ZnF_C2H2	261	283	9.08e-4	SMART
ZnF_C2H2	289	311	6.08e-5	SMART
ZnF_C2H2	317	339	1.03e-2	SMART
ZnF_C2H2	345	367	2.24e-3	SMART
ZnF_C2H2	373	395	3.21e-4	SMART
ZnF_C2H2	401	423	6.32e-3	SMART
ZnF_C2H2	429	451	2.24e-3	SMART
ZnF_C2H2	457	479	5.14e-3	SMART
ZnF_C2H2	485	507	1.04e-3	SMART
ZnF_C2H2	513	535	4.4e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149699
AA Change: T30A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121288
Gene: ENSMUSG00000044501
AA Change: T30A

Domain	Start	End	E-Value	Type
KRAB	45	105	1.55e-20	SMART
ZnF_C2H2	209	231	6.92e0	SMART
ZnF_C2H2	237	259	6.32e-3	SMART
ZnF_C2H2	265	287	1.2e-3	SMART
ZnF_C2H2	293	315	9.08e-4	SMART
ZnF_C2H2	321	343	6.08e-5	SMART
ZnF_C2H2	349	371	1.03e-2	SMART
ZnF_C2H2	377	399	2.24e-3	SMART
ZnF_C2H2	405	427	3.21e-4	SMART
ZnF_C2H2	433	455	6.32e-3	SMART
ZnF_C2H2	461	483	2.24e-3	SMART
ZnF_C2H2	489	511	5.14e-3	SMART
ZnF_C2H2	517	539	1.04e-3	SMART
ZnF_C2H2	545	567	4.4e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het

Other mutations in Zfp758

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01550:Zfp758	APN	17	22375040	missense	probably damaging	1.00
R1034:Zfp758	UTSW	17	22375759	nonsense	probably null
R1187:Zfp758	UTSW	17	22375190	missense	probably benign	0.23
R1733:Zfp758	UTSW	17	22375849	missense	probably damaging	1.00
R1847:Zfp758	UTSW	17	22375223	missense	probably benign	0.19
R1927:Zfp758	UTSW	17	22375842	missense	probably damaging	0.99
R1934:Zfp758	UTSW	17	22373652	missense	probably damaging	0.99
R2113:Zfp758	UTSW	17	22361645	missense	probably benign	0.10
R2132:Zfp758	UTSW	17	22375970	missense	probably damaging	1.00
R5134:Zfp758	UTSW	17	22375405	missense	probably damaging	1.00
R5274:Zfp758	UTSW	17	22375855	missense	probably benign	0.31
R5303:Zfp758	UTSW	17	22374861	missense	probably benign	0.05
R5394:Zfp758	UTSW	17	22372068	missense	probably damaging	0.99
R5813:Zfp758	UTSW	17	22375815	missense	probably damaging	1.00
R6017:Zfp758	UTSW	17	22373731	missense	probably damaging	1.00
R6411:Zfp758	UTSW	17	22375094	missense	possibly damaging	0.85
R6501:Zfp758	UTSW	17	22371997	intron	probably benign
R7076:Zfp758	UTSW	17	22375156	missense	probably benign	0.11
R7147:Zfp758	UTSW	17	22376000	missense	possibly damaging	0.75
R7170:Zfp758	UTSW	17	22375135	nonsense	probably null
R7572:Zfp758	UTSW	17	22374891	missense	possibly damaging	0.61
R7593:Zfp758	UTSW	17	22374958	missense	probably damaging	0.98
R7699:Zfp758	UTSW	17	22375665	nonsense	probably null
R7858:Zfp758	UTSW	17	22375378	missense	probably benign	0.02
R9377:Zfp758	UTSW	17	22374944	missense	probably benign	0.35
R9717:Zfp758	UTSW	17	22374848	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TCCTTAATTACGTTGGTAGAGTCC -3'
(R):5'- CCAACTGTTCATAAGATCTCAACTTCC -3'

Sequencing Primer
(F):5'- AATTACGTTGGTAGAGTCCGTCCAG -3'
(R):5'- TTCCTGACAACTGTAAGAGATCC -3'

Posted On

2018-09-12