Mutagenetix > Incidental Mutation

Incidental Mutation 'R7629:Zfp715'

589547

Institutional Source

Beutler Lab

Gene Symbol

Zfp715

Ensembl Gene

ENSMUSG00000012640

Gene Name

zinc finger protein 715

Synonyms

mszf15, 2610041B18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R7629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43296197-43313294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43301676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 66 (D66G)

Ref Sequence

ENSEMBL: ENSMUSP00000040282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012796] [ENSMUST00000048015] [ENSMUST00000107986] [ENSMUST00000135130] [ENSMUST00000139061] [ENSMUST00000145622]

AlphaFold

G3X9T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012796
AA Change: D66G

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640
AA Change: D66G

Domain	Start	End	E-Value	Type
KRAB	48	108	3.87e-30	SMART
ZnF_C2H2	124	146	3.39e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048015
AA Change: D66G

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

SMART Domains

Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: D66G

Domain	Start	End	E-Value	Type
KRAB	48	108	3.87e-30	SMART
ZnF_C2H2	356	378	1.28e-3	SMART
ZnF_C2H2	384	406	1.03e-2	SMART
ZnF_C2H2	412	434	4.79e-3	SMART
ZnF_C2H2	440	462	1.45e-2	SMART
ZnF_C2H2	468	490	1.12e-3	SMART
ZnF_C2H2	496	518	2.57e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	1.92e-2	SMART
ZnF_C2H2	580	602	9.58e-3	SMART
ZnF_C2H2	608	630	8.6e-5	SMART
ZnF_C2H2	636	658	1.13e-4	SMART
ZnF_C2H2	691	713	1.98e-4	SMART
ZnF_C2H2	719	741	8.34e-3	SMART
ZnF_C2H2	747	769	3.95e-4	SMART
ZnF_C2H2	775	797	4.94e-5	SMART
ZnF_C2H2	803	825	3.39e-3	SMART
ZnF_C2H2	831	853	1.95e-3	SMART
ZnF_C2H2	859	881	2.09e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107986
AA Change: D66G

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

SMART Domains

Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: D66G

Domain	Start	End	E-Value	Type
KRAB	48	108	3.87e-30	SMART
ZnF_C2H2	356	378	1.28e-3	SMART
ZnF_C2H2	384	406	1.03e-2	SMART
ZnF_C2H2	412	434	4.79e-3	SMART
ZnF_C2H2	440	462	1.45e-2	SMART
ZnF_C2H2	468	490	1.12e-3	SMART
ZnF_C2H2	496	518	2.57e-3	SMART
ZnF_C2H2	524	546	4.79e-3	SMART
ZnF_C2H2	552	574	1.92e-2	SMART
ZnF_C2H2	580	602	9.58e-3	SMART
ZnF_C2H2	608	630	8.6e-5	SMART
ZnF_C2H2	636	658	1.13e-4	SMART
ZnF_C2H2	691	713	1.98e-4	SMART
ZnF_C2H2	719	741	8.34e-3	SMART
ZnF_C2H2	747	769	3.95e-4	SMART
ZnF_C2H2	775	797	4.94e-5	SMART
ZnF_C2H2	803	825	3.39e-3	SMART
ZnF_C2H2	831	853	1.95e-3	SMART
ZnF_C2H2	859	881	2.09e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135130
AA Change: D66G

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

SMART Domains

Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640
AA Change: D66G

Domain	Start	End	E-Value	Type
KRAB	48	88	5.49e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139061
AA Change: D66G

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

SMART Domains

Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
AA Change: D66G

Domain	Start	End	E-Value	Type
KRAB	48	108	3.87e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145622

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	G	A	16: 88,707,405	T168I	probably benign	Het
2410089E03Rik	C	T	15: 8,227,067	Q2004*	probably null	Het
Abtb2	T	A	2: 103,683,493		probably null	Het
Ankrd10	A	T	8: 11,615,769	V277E	probably benign	Het
Ankrd28	C	T	14: 31,715,264	V615I	probably benign	Het
Aqr	G	A	2: 114,114,593	P1079L	probably damaging	Het
Brox	G	A	1: 183,292,504	A60V	probably damaging	Het
Copg1	T	C	6: 87,894,169	V289A	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
D430042O09Rik	T	C	7: 125,795,250	L192P	probably damaging	Het
Dido1	T	C	2: 180,661,473	N1546S	probably benign	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dmxl1	T	A	18: 49,859,270	I361N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fhod3	T	A	18: 24,754,317	D88E	probably benign	Het
Flywch1	A	G	17: 23,755,770	M632T	probably benign	Het
Henmt1	A	G	3: 108,958,597	T213A	probably benign	Het
Itga9	T	C	9: 118,698,446	V555A	probably benign	Het
Kif13b	C	T	14: 64,779,335	R1317*	probably null	Het
Kndc1	A	T	7: 139,895,260	E25V	probably damaging	Het
Lingo2	T	A	4: 35,708,675	D435V	possibly damaging	Het
Lrrc14b	T	A	13: 74,361,164	M375L	probably benign	Het
Lrrtm2	T	C	18: 35,214,257		probably null	Het
Mgat4c	G	A	10: 102,389,070	V382I	probably benign	Het
Mpp6	T	C	6: 50,196,623	I489T	probably benign	Het
Muc16	T	C	9: 18,566,785	T7075A	possibly damaging	Het
Myo5b	T	A	18: 74,627,254		probably null	Het
Neb	T	C	2: 52,273,961	D1995G	possibly damaging	Het
Nudt9	T	C	5: 104,050,694	V75A	possibly damaging	Het
Olfr1277	C	T	2: 111,269,876	V164I	probably benign	Het
Paf1	T	C	7: 28,395,068	Y35H	probably damaging	Het
Panx3	T	A	9: 37,661,444	Q270L	possibly damaging	Het
Pde6h	G	T	6: 136,959,319	R20L	possibly damaging	Het
Pdxk	A	G	10: 78,445,006	I200T	probably benign	Het
Ppara	A	T	15: 85,798,191	M363L	probably damaging	Het
Prmt8	A	T	6: 127,689,883	L376*	probably null	Het
Serpina1a	G	C	12: 103,853,808	T393R	probably damaging	Het
Sfxn1	C	T	13: 54,093,022	R178C	probably damaging	Het
Sirpb1c	A	T	3: 15,848,395	W7R	possibly damaging	Het
Skint5	T	C	4: 113,942,660	Y104C	probably damaging	Het
Slamf6	A	T	1: 171,936,624	T195S	probably damaging	Het
Slc2a6	T	C	2: 27,024,202	D301G	probably benign	Het
Stab2	A	T	10: 86,883,782		probably null	Het
Tctn3	C	G	19: 40,611,336	D141H	probably damaging	Het
Tnik	A	G	3: 28,661,728	N1164D	probably damaging	Het
Tpcn1	C	T	5: 120,537,937	V711I	probably benign	Het
Trim11	G	A	11: 58,978,334	G32D	probably damaging	Het
Usp32	TTTGGTTG	TTTG	11: 85,019,855		probably null	Het
Vmn1r72	T	C	7: 11,669,784	I246V	probably benign	Het
Zfp362	G	T	4: 128,786,055	R273S	probably damaging	Het

Other mutations in Zfp715

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Zfp715	APN	7	43299749	missense	possibly damaging	0.53
IGL00984:Zfp715	APN	7	43299784	missense	probably benign	0.28
IGL03401:Zfp715	APN	7	43299736	missense	probably benign	0.18
R0373:Zfp715	UTSW	7	43299336	missense	possibly damaging	0.96
R1167:Zfp715	UTSW	7	43298437	missense	possibly damaging	0.83
R1943:Zfp715	UTSW	7	43299630	missense	possibly damaging	0.86
R1987:Zfp715	UTSW	7	43298649	missense	possibly damaging	0.71
R2073:Zfp715	UTSW	7	43311120	missense	probably benign	0.01
R2116:Zfp715	UTSW	7	43297946	missense	possibly damaging	0.71
R2403:Zfp715	UTSW	7	43299268	missense	possibly damaging	0.91
R3707:Zfp715	UTSW	7	43311129	missense	probably benign
R3838:Zfp715	UTSW	7	43299756	missense	probably benign	0.33
R4059:Zfp715	UTSW	7	43301731	missense	probably benign	0.11
R4110:Zfp715	UTSW	7	43297880	missense	possibly damaging	0.72
R4426:Zfp715	UTSW	7	43311092	missense	probably damaging	0.99
R4675:Zfp715	UTSW	7	43300020	missense	probably benign	0.15
R4898:Zfp715	UTSW	7	43299682	missense	possibly damaging	0.48
R5007:Zfp715	UTSW	7	43299595	missense	possibly damaging	0.53
R5477:Zfp715	UTSW	7	43299954	missense	probably damaging	0.99
R5574:Zfp715	UTSW	7	43311039	missense	possibly damaging	0.94
R5594:Zfp715	UTSW	7	43299692	missense	possibly damaging	0.73
R5967:Zfp715	UTSW	7	43299148	missense	probably benign	0.04
R6538:Zfp715	UTSW	7	43299149	missense	possibly damaging	0.73
R7322:Zfp715	UTSW	7	43311138	missense	possibly damaging	0.53
R7934:Zfp715	UTSW	7	43299884	nonsense	probably null
R7973:Zfp715	UTSW	7	43299897	missense	possibly damaging	0.64
R8327:Zfp715	UTSW	7	43298058	missense	possibly damaging	0.64
R8348:Zfp715	UTSW	7	43299937	missense	possibly damaging	0.53
R8532:Zfp715	UTSW	7	43299405	missense	possibly damaging	0.71
R8532:Zfp715	UTSW	7	43299710	missense	probably benign	0.00
R8835:Zfp715	UTSW	7	43299006	missense
R9150:Zfp715	UTSW	7	43299289	missense	possibly damaging	0.85
R9328:Zfp715	UTSW	7	43297904	missense	possibly damaging	0.71
R9332:Zfp715	UTSW	7	43299423	missense	probably damaging	0.98
R9619:Zfp715	UTSW	7	43299680	nonsense	probably null
R9649:Zfp715	UTSW	7	43301229	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGACTGACAGAGATTACACTTCTG -3'
(R):5'- GGATTGGTTCCTTTATAAGCATTCTC -3'

Sequencing Primer
(F):5'- CTGATACCTCACTATGCTTTGGAAAG -3'
(R):5'- GCATTCTCTATCTCCCCAAATTAATG -3'

Posted On

2019-10-24