Mutagenetix > Incidental Mutation

Incidental Mutation 'R5574:Zfp715'

437104

Institutional Source

Beutler Lab

Gene Symbol

Zfp715

Ensembl Gene

ENSMUSG00000012640

Gene Name

zinc finger protein 715

Synonyms

mszf15, 2610041B18Rik

MMRRC Submission

043129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43296197-43313294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43311039 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 43 (S43T)

Ref Sequence

ENSEMBL: ENSMUSP00000012796 (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: S43T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640
AA Change: S43T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048015
AA Change: S43T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: S43T

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: ENSMUST00000107986
AA Change: S43T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: S43T

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
AA Change: S43T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640
AA Change: S43T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139061
AA Change: S43T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
AA Change: S43T

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

Predicted Effect

unknown
Transcript: ENSMUST00000145622
AA Change: S43T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151659

Meta Mutation Damage Score

0.0868

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	A	14: 59,142,756	N31I	possibly damaging	Het
3110002H16Rik	CTGTGTGTT	CTGTGTGTTGTGTGTT	18: 12,185,006		probably null	Het
Acvr1b	T	A	15: 101,202,077	M304K	probably benign	Het
Adamts1	G	T	16: 85,799,642	D106E	probably damaging	Het
Blm	C	A	7: 80,499,773	C696F	probably damaging	Het
Bnip3l-ps	T	A	12: 18,217,118		noncoding transcript	Het
C87499	T	G	4: 88,628,043	E354A	probably benign	Het
Ccdc171	A	T	4: 83,693,753	N895I	probably damaging	Het
Cdhr4	A	T	9: 107,993,328		probably benign	Het
Cfap97	T	C	8: 46,170,142	S190P	probably damaging	Het
Chrnb1	A	C	11: 69,793,683		probably benign	Het
Clns1a	A	G	7: 97,720,958		probably benign	Het
Col8a2	G	A	4: 126,311,268		probably benign	Het
Cr2	T	A	1: 195,141,236	E721V	probably damaging	Het
Csk	A	G	9: 57,629,301	V172A	probably benign	Het
Cyp2g1	G	A	7: 26,820,740	V466M	possibly damaging	Het
Cyp4f13	A	G	17: 32,929,205	Y349H	probably benign	Het
Dnm1l	T	C	16: 16,329,821	Y205C	probably damaging	Het
Dync1i2	A	T	2: 71,233,650	T113S	probably benign	Het
Edem2	T	C	2: 155,716,155	E186G	probably damaging	Het
Eya2	G	A	2: 165,763,816	R380H	probably damaging	Het
Fam214a	A	T	9: 75,010,390	D757V	probably damaging	Het
Fam60a	C	T	6: 148,944,880		probably benign	Het
Gldn	A	G	9: 54,312,922	T132A	probably damaging	Het
Gm13941	A	T	2: 111,100,606	I74K	unknown	Het
Gm3898	C	T	9: 43,830,042		noncoding transcript	Het
Ighmbp2	C	T	19: 3,271,536	V408I	probably benign	Het
Klhdc10	C	T	6: 30,439,865	L127F	possibly damaging	Het
Letm1	G	A	5: 33,769,386	T189M	possibly damaging	Het
Lrrc17	A	T	5: 21,570,357	I306F	possibly damaging	Het
Lrrk2	T	A	15: 91,787,016	V2000E	probably damaging	Het
Mettl9	A	T	7: 121,047,870	E66D	probably benign	Het
Mroh1	T	A	15: 76,433,931	V877D	probably benign	Het
Mycbp2	C	T	14: 103,142,767	V3760M	possibly damaging	Het
Nos3	A	G	5: 24,368,861	T208A	possibly damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Obp2a	A	T	2: 25,700,830	T70S	possibly damaging	Het
Olfr1040	T	C	2: 86,146,191	D181G	probably damaging	Het
Olfr1100	A	G	2: 86,978,523	V91A	probably benign	Het
Olfr1245	C	T	2: 89,574,977	V250I	possibly damaging	Het
Olfr145	A	T	9: 37,897,581	Y59F	probably damaging	Het
Olfr69	T	G	7: 103,768,116	I94L	possibly damaging	Het
Pate2	A	G	9: 35,686,115		probably benign	Het
Pdzph1	A	G	17: 58,973,947	F447L	probably benign	Het
Pias1	A	G	9: 62,920,493	C211R	probably damaging	Het
Plb1	A	G	5: 32,329,947	S929G	probably benign	Het
Prc1	G	A	7: 80,294,542		probably benign	Het
Prex2	A	G	1: 11,140,058	D574G	probably damaging	Het
Rapgef4	G	A	2: 72,034,120		probably null	Het
Rock2	T	C	12: 16,961,641	M690T	possibly damaging	Het
Slc18a2	A	G	19: 59,261,405	I25V	probably benign	Het
Slc9a5	T	A	8: 105,364,691	I701K	probably benign	Het
Sorcs1	T	A	19: 50,222,133	N765Y	probably damaging	Het
Ssh2	A	T	11: 77,450,115	I698L	probably benign	Het
Stam	A	G	2: 14,115,864	D58G	probably damaging	Het
Thsd4	C	A	9: 59,972,400	R1018L	probably damaging	Het
Tnxb	A	G	17: 34,711,024	T2911A	probably benign	Het
Trpm7	A	C	2: 126,813,030	F1329L	probably benign	Het
Ttll9	A	G	2: 152,984,248	E126G	possibly damaging	Het
Tubgcp5	G	A	7: 55,805,329	V258M	probably benign	Het
Unc45a	G	A	7: 80,334,856	A232V	probably damaging	Het
Utp14b	G	A	1: 78,666,409	V675M	probably damaging	Het
Vmn2r67	T	A	7: 85,151,891	H279L	probably benign	Het
Vmn2r75	G	T	7: 86,166,302	A118E	probably benign	Het
Wdr36	A	T	18: 32,865,959	Q886L	probably damaging	Het
Zfp433	T	A	10: 81,719,291	Y27*	probably null	Het
Zfyve26	A	G	12: 79,239,924	S2297P	possibly 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
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'- ATCCCACTACTGGAGAGGTTGAG -3'
(R):5'- AGGATTTCCTTCTGTGCCACAG -3'

Sequencing Primer
(F):5'- GCCTGGGCTATATGAAAGAATTCC -3'
(R):5'- TCTGTGCCACAGCTAGCC -3'

Posted On

2016-10-26