Mutagenetix > Incidental Mutation

Incidental Mutation 'R4110:Zfp715'

317250

Institutional Source

Beutler Lab

Gene Symbol

Zfp715

Ensembl Gene

ENSMUSG00000012640

Gene Name

zinc finger protein 715

Synonyms

mszf15, 2610041B18Rik

MMRRC Submission

040988-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43296197-43313294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43297880 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 885 (K885N)

Ref Sequence

ENSEMBL: ENSMUSP00000103620 (fasta)

Gene Model

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

AlphaFold

G3X9T1

Predicted Effect

probably benign
Transcript: ENSMUST00000012796

SMART Domains

Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640

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: K885N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: K885N

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: K885N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: K885N

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

probably benign
Transcript: ENSMUST00000135130

SMART Domains

Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139061

SMART Domains

Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151659

Meta Mutation Damage Score

0.1577

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot10	A	T	15: 20,666,526	L43Q	probably damaging	Het
Alms1	G	A	6: 85,620,888	V1368I	probably benign	Het
Als2cl	T	C	9: 110,884,047	S2P	probably benign	Het
AW209491	T	C	13: 14,637,573	V337A	probably damaging	Het
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
BC023105	A	G	18: 60,442,284		noncoding transcript	Het
Blvra	T	C	2: 127,095,155	V176A	probably damaging	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Col6a2	T	A	10: 76,606,169		probably null	Het
Cse1l	T	C	2: 166,942,050	Y488H	probably benign	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Dscaml1	G	A	9: 45,732,068	A1262T	probably benign	Het
Dtwd2	A	C	18: 49,698,306		probably benign	Het
Fadd	C	A	7: 144,580,751	K132N	possibly damaging	Het
Fndc3c1	T	C	X: 106,444,291	N462S	probably benign	Het
Fzd3	A	G	14: 65,235,167	V384A	probably benign	Het
Gm6370	T	C	5: 146,493,892	S296P	probably benign	Het
Gm853	A	T	4: 130,219,174	L143Q	probably damaging	Het
Gsdmc	T	A	15: 63,780,027	H245L	probably benign	Het
H13	T	C	2: 152,681,109	I114T	probably damaging	Het
Hhipl2	A	G	1: 183,424,012	R78G	probably benign	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Man2c1	A	G	9: 57,136,771	N330S	probably damaging	Het
Muc19	T	A	15: 91,897,622		noncoding transcript	Het
Myh14	T	G	7: 44,628,550	M1092L	probably benign	Het
Neb	A	G	2: 52,148,766	I2899T	probably benign	Het
Neb	T	A	2: 52,244,125	Q3282L	probably damaging	Het
Nqo2	A	T	13: 33,979,637	Q93L	probably benign	Het
Olfr1239	C	A	2: 89,418,100	L104F	probably benign	Het
Olfr46	C	A	7: 140,610,264	L33M	probably benign	Het
Olfr46	T	A	7: 140,610,265	L33Q	possibly damaging	Het
Olfr641	T	C	7: 104,040,402	V202A	probably damaging	Het
Pcsk1	A	G	13: 75,096,369	N122S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,864	I966V	probably benign	Het
Phldb1	G	A	9: 44,715,831	T439I	possibly damaging	Het
Pign	A	G	1: 105,553,815		probably benign	Het
Pkn1	A	T	8: 83,691,199	D120E	probably benign	Het
Ptpru	A	G	4: 131,819,037	Y301H	probably damaging	Het
Raly	C	T	2: 154,857,458	Q61*	probably null	Het
Rpl24	T	C	16: 55,971,360	V148A	probably benign	Het
S100a16	A	G	3: 90,542,072	N18S	probably damaging	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Sgca	T	C	11: 94,972,570	T27A	possibly damaging	Het
Slc22a12	C	A	19: 6,540,628	R203L	probably damaging	Het
Ssbp3	C	A	4: 107,047,196		probably benign	Het
Sucnr1	C	G	3: 60,086,794	R248G	probably damaging	Het
Tbr1	C	T	2: 61,811,732	P184L	probably benign	Het
Thsd7b	A	T	1: 130,116,619	D1112V	probably benign	Het
Tnc	A	G	4: 64,014,951	V692A	probably damaging	Het
Top2a	C	A	11: 99,022,960	K18N	probably damaging	Het
Topbp1	G	T	9: 103,309,959	R121L	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Wdfy3	C	T	5: 101,900,058		probably null	Het
Zbtb3	G	C	19: 8,803,020		probably benign	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
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
R7629:Zfp715	UTSW	7	43301676	missense	possibly damaging	0.92
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'- TCACATTCAGAGCACAAAGGTC -3'
(R):5'- GGCCTTCAAACAGTTGTCAAC -3'

Sequencing Primer
(F):5'- AGGTCTCTCCTAGATGAACTCATTTG -3'
(R):5'- TCCATCTGAACTGAAGGTGC -3'

Posted On

2015-05-15