Mutagenetix > Incidental Mutation

Incidental Mutation 'R7322:Zfp715'

568213

Institutional Source

Beutler Lab

Gene Symbol

Zfp715

Ensembl Gene

ENSMUSG00000012640

Gene Name

zinc finger protein 715

Synonyms

2610041B18Rik, mszf15

MMRRC Submission

045417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R7322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42945946-42962724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42960562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 10 (T10A)

Ref Sequence

ENSEMBL: ENSMUSP00000040282 (fasta)

Gene Model

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

AlphaFold

G3X9T1

Predicted Effect

probably benign
Transcript: ENSMUST00000012796
AA Change: T10A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000012796
Gene: ENSMUSG00000012640
AA Change: T10A

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: T10A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: T10A

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: T10A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: T10A

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: T10A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122812
Gene: ENSMUSG00000012640
AA Change: T10A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139061
AA Change: T10A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114600
Gene: ENSMUSG00000012640
AA Change: T10A

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

Predicted Effect

unknown
Transcript: ENSMUST00000145622
AA Change: T10A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,067,151 (GRCm39)	V1352D	probably damaging	Het
Adam33	C	T	2: 130,895,614 (GRCm39)	C567Y	probably damaging	Het
Alppl2	C	A	1: 87,015,184 (GRCm39)	G422C	probably benign	Het
Ang	T	A	14: 51,338,868 (GRCm39)	I3K	unknown	Het
Ankrd10	A	T	8: 11,665,841 (GRCm39)	V253E	probably damaging	Het
Arhgef17	T	C	7: 100,527,004 (GRCm39)	I806V	probably benign	Het
Atp10b	T	C	11: 43,103,374 (GRCm39)	L586P	probably damaging	Het
Bdkrb1	T	C	12: 105,570,563 (GRCm39)	V43A	possibly damaging	Het
Brinp3	C	T	1: 146,558,426 (GRCm39)	R117*	probably null	Het
Brwd1	A	T	16: 95,867,319 (GRCm39)	M172K	probably damaging	Het
Bsn	G	A	9: 108,003,620 (GRCm39)	R262*	probably null	Het
Bst2	A	C	8: 71,989,851 (GRCm39)	L74R	probably damaging	Het
C1qa	T	C	4: 136,623,465 (GRCm39)	*246W	probably null	Het
Cadm2	G	A	16: 66,679,734 (GRCm39)	T42M	probably damaging	Het
Ccdc150	A	G	1: 54,299,125 (GRCm39)	T34A	probably benign	Het
Ccdc178	G	A	18: 22,238,606 (GRCm39)	T337M	probably benign	Het
Ccl8	T	C	11: 82,007,408 (GRCm39)	V81A	probably damaging	Het
Dgcr6	A	G	16: 17,888,771 (GRCm39)	T69A	unknown	Het
Dnah10	A	G	5: 124,898,333 (GRCm39)	D3762G	probably benign	Het
Eif3d	T	C	15: 77,845,876 (GRCm39)	T382A	probably benign	Het
Epb41	A	T	4: 131,717,030 (GRCm39)	Y375N	probably damaging	Het
Epb41l1	A	T	2: 156,345,771 (GRCm39)	H258L	probably damaging	Het
Fbn1	A	C	2: 125,321,115 (GRCm39)	I81S	possibly damaging	Het
Fzd5	A	G	1: 64,774,487 (GRCm39)	S425P	probably damaging	Het
Gfra2	T	A	14: 71,205,831 (GRCm39)	V398D	probably benign	Het
Gm3755	A	G	14: 18,620,904 (GRCm39)	L130P		Het
Grin3b	A	G	10: 79,811,529 (GRCm39)	Y705C	probably damaging	Het
Hmcn2	A	G	2: 31,349,093 (GRCm39)	D4944G	probably damaging	Het
Hoxd11	T	C	2: 74,514,355 (GRCm39)	L295P	probably damaging	Het
Ighv1-81	C	A	12: 115,884,287 (GRCm39)	G16C	possibly damaging	Het
Kcna5	T	C	6: 126,510,754 (GRCm39)	D458G	possibly damaging	Het
Klb	A	T	5: 65,540,707 (GRCm39)	E933D	probably benign	Het
Lrp1	A	T	10: 127,381,433 (GRCm39)	M3855K	probably benign	Het
Map3k4	A	T	17: 12,489,833 (GRCm39)	L533I	probably damaging	Het
Mrps6	C	A	16: 91,855,335 (GRCm39)	Y4*	probably null	Het
Nabp1	A	T	1: 51,512,229 (GRCm39)	V105E	probably damaging	Het
Naip6	T	A	13: 100,435,896 (GRCm39)	N876Y	possibly damaging	Het
Nlrp2	T	C	7: 5,311,644 (GRCm39)	S944G	possibly damaging	Het
Nr4a3	A	T	4: 48,083,238 (GRCm39)	E590D	probably benign	Het
Or10h5	A	G	17: 33,434,673 (GRCm39)	I215T	probably damaging	Het
Or1b1	T	C	2: 36,995,603 (GRCm39)	R20G	probably null	Het
Or52ab2	T	A	7: 102,970,494 (GRCm39)	V292E		Het
Or5j1	A	T	2: 86,878,823 (GRCm39)	Y252*	probably null	Het
Or8k22	C	T	2: 86,162,908 (GRCm39)	S264N	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pdzd2	T	C	15: 12,437,248 (GRCm39)	D451G	probably damaging	Het
Pkd2l1	A	G	19: 44,146,129 (GRCm39)	S142P	probably benign	Het
Postn	T	C	3: 54,277,701 (GRCm39)	L232P	probably damaging	Het
Prss8	T	C	7: 127,528,735 (GRCm39)	T33A	probably benign	Het
Ptgr3	A	G	18: 84,113,260 (GRCm39)	Y312C	probably damaging	Het
Rapgef2	A	T	3: 79,053,130 (GRCm39)	M1K	probably null	Het
Rasa3	T	C	8: 13,645,857 (GRCm39)	N161S	possibly damaging	Het
Riox1	G	A	12: 83,997,442 (GRCm39)		probably benign	Het
Rmdn2	A	T	17: 79,929,040 (GRCm39)	K97N	probably damaging	Het
Sgo1	A	G	17: 53,984,085 (GRCm39)	L431P	probably damaging	Het
Slc9a8	T	A	2: 167,293,222 (GRCm39)	V217E	probably damaging	Het
Slco2b1	C	T	7: 99,341,055 (GRCm39)	G21D	not run	Het
Spata31d1d	C	A	13: 59,874,790 (GRCm39)	R915L	probably benign	Het
Stk17b	A	T	1: 53,805,104 (GRCm39)	N152K	probably benign	Het
Syne2	T	A	12: 76,030,798 (GRCm39)	I3634N	probably damaging	Het
Tnfrsf9	A	G	4: 151,018,794 (GRCm39)	D155G	probably damaging	Het
Tnrc6a	T	A	7: 122,770,731 (GRCm39)	D840E	probably benign	Het
Tyk2	G	A	9: 21,021,500 (GRCm39)	S902L	probably benign	Het
Unc119	T	C	11: 78,239,449 (GRCm39)	S235P	probably damaging	Het
Vav1	A	C	17: 57,609,266 (GRCm39)	D394A	probably benign	Het
Vezf1	T	A	11: 87,972,410 (GRCm39)	I439K	possibly damaging	Het
Zfp335	A	T	2: 164,752,741 (GRCm39)	M1K	probably null	Het
Zmynd11	C	T	13: 9,740,445 (GRCm39)	E382K	possibly damaging	Het

Other mutations in Zfp715

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Zfp715	APN	7	42,949,173 (GRCm39)	missense	possibly damaging	0.53
IGL00984:Zfp715	APN	7	42,949,208 (GRCm39)	missense	probably benign	0.28
IGL03401:Zfp715	APN	7	42,949,160 (GRCm39)	missense	probably benign	0.18
R0373:Zfp715	UTSW	7	42,948,760 (GRCm39)	missense	possibly damaging	0.96
R1167:Zfp715	UTSW	7	42,947,861 (GRCm39)	missense	possibly damaging	0.83
R1943:Zfp715	UTSW	7	42,949,054 (GRCm39)	missense	possibly damaging	0.86
R1987:Zfp715	UTSW	7	42,948,073 (GRCm39)	missense	possibly damaging	0.71
R2073:Zfp715	UTSW	7	42,960,544 (GRCm39)	missense	probably benign	0.01
R2116:Zfp715	UTSW	7	42,947,370 (GRCm39)	missense	possibly damaging	0.71
R2403:Zfp715	UTSW	7	42,948,692 (GRCm39)	missense	possibly damaging	0.91
R3707:Zfp715	UTSW	7	42,960,553 (GRCm39)	missense	probably benign
R3838:Zfp715	UTSW	7	42,949,180 (GRCm39)	missense	probably benign	0.33
R4059:Zfp715	UTSW	7	42,951,155 (GRCm39)	missense	probably benign	0.11
R4110:Zfp715	UTSW	7	42,947,304 (GRCm39)	missense	possibly damaging	0.72
R4426:Zfp715	UTSW	7	42,960,516 (GRCm39)	missense	probably damaging	0.99
R4675:Zfp715	UTSW	7	42,949,444 (GRCm39)	missense	probably benign	0.15
R4898:Zfp715	UTSW	7	42,949,106 (GRCm39)	missense	possibly damaging	0.48
R5007:Zfp715	UTSW	7	42,949,019 (GRCm39)	missense	possibly damaging	0.53
R5477:Zfp715	UTSW	7	42,949,378 (GRCm39)	missense	probably damaging	0.99
R5574:Zfp715	UTSW	7	42,960,463 (GRCm39)	missense	possibly damaging	0.94
R5594:Zfp715	UTSW	7	42,949,116 (GRCm39)	missense	possibly damaging	0.73
R5967:Zfp715	UTSW	7	42,948,572 (GRCm39)	missense	probably benign	0.04
R6538:Zfp715	UTSW	7	42,948,573 (GRCm39)	missense	possibly damaging	0.73
R7629:Zfp715	UTSW	7	42,951,100 (GRCm39)	missense	possibly damaging	0.92
R7934:Zfp715	UTSW	7	42,949,308 (GRCm39)	nonsense	probably null
R7973:Zfp715	UTSW	7	42,949,321 (GRCm39)	missense	possibly damaging	0.64
R8327:Zfp715	UTSW	7	42,947,482 (GRCm39)	missense	possibly damaging	0.64
R8348:Zfp715	UTSW	7	42,949,361 (GRCm39)	missense	possibly damaging	0.53
R8532:Zfp715	UTSW	7	42,949,134 (GRCm39)	missense	probably benign	0.00
R8532:Zfp715	UTSW	7	42,948,829 (GRCm39)	missense	possibly damaging	0.71
R8835:Zfp715	UTSW	7	42,948,430 (GRCm39)	missense
R9150:Zfp715	UTSW	7	42,948,713 (GRCm39)	missense	possibly damaging	0.85
R9328:Zfp715	UTSW	7	42,947,328 (GRCm39)	missense	possibly damaging	0.71
R9332:Zfp715	UTSW	7	42,948,847 (GRCm39)	missense	probably damaging	0.98
R9619:Zfp715	UTSW	7	42,949,104 (GRCm39)	nonsense	probably null
R9649:Zfp715	UTSW	7	42,950,653 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGATGGTCTCAGAAGTCTGC -3'
(R):5'- CAAGAGCAGGGCTTTTATGTATCC -3'

Sequencing Primer
(F):5'- AGAAGTCTGCAGCTTCCTG -3'
(R):5'- GAGCAGGGCTTTTATGTATCCTCTAC -3'

Posted On

2019-06-26