Mutagenetix > Incidental Mutation

Incidental Mutation 'R3838:Zfp715'

276989

Institutional Source

Beutler Lab

Gene Symbol

Zfp715

Ensembl Gene

ENSMUSG00000012640

Gene Name

zinc finger protein 715

Synonyms

2610041B18Rik, mszf15

MMRRC Submission

040779-MU

Accession Numbers

Essential gene?

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

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42945946-42962724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42949180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

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

probably benign
Transcript: ENSMUST00000048015
AA Change: V260A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040282
Gene: ENSMUSG00000012640
AA Change: V260A

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: V260A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103620
Gene: ENSMUSG00000012640
AA Change: V260A

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 60,993,041 (GRCm39)	Y213H	probably damaging	Het
Alg8	C	T	7: 97,037,752 (GRCm39)	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Arid4a	A	G	12: 71,122,559 (GRCm39)	E980G	possibly damaging	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
Bud13	A	C	9: 46,201,490 (GRCm39)	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,929,939 (GRCm39)	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Col2a1	T	C	15: 97,886,857 (GRCm39)	D345G	unknown	Het
Col2a1	A	T	15: 97,898,462 (GRCm39)		probably benign	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,656 (GRCm39)	L101Q	probably damaging	Het
F13a1	A	T	13: 37,231,398 (GRCm39)	N21K	probably damaging	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Foxj3	T	A	4: 119,473,821 (GRCm39)	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn2	T	C	2: 31,303,419 (GRCm39)	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,321,658 (GRCm39)	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,511,664 (GRCm39)	C139R	possibly damaging	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,474,909 (GRCm39)	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nme2	T	A	11: 93,840,803 (GRCm39)	E252D	probably benign	Het
Ntpcr	G	A	8: 126,464,111 (GRCm39)	V79M	probably damaging	Het
Ogdh	C	T	11: 6,288,627 (GRCm39)	R235*	probably null	Het
Or10d1	A	G	9: 39,484,267 (GRCm39)	V96A	probably benign	Het
Or10w1	A	G	19: 13,632,321 (GRCm39)	D176G	probably benign	Het
Or9k2	C	A	10: 129,998,275 (GRCm39)	E307*	probably null	Het
P3r3urf	A	G	4: 116,030,718 (GRCm39)	T41A	probably benign	Het
Pcdh20	T	C	14: 88,705,899 (GRCm39)	N467S	probably benign	Het
Pkhd1	G	A	1: 20,604,853 (GRCm39)	T1154I	possibly damaging	Het
Polq	G	T	16: 36,898,711 (GRCm39)	R2157I	probably damaging	Het
Reep6	C	A	10: 80,171,723 (GRCm39)	A533E	probably damaging	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Septin11	T	A	5: 93,296,258 (GRCm39)	I52N	probably damaging	Het
Shld2	T	C	14: 33,967,325 (GRCm39)	D77G	probably benign	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Spdye4b	C	T	5: 143,178,084 (GRCm39)	T11I	probably benign	Het
Srrt	C	T	5: 137,300,387 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,457,754 (GRCm39)	C3085S	probably damaging	Het
Stim1	C	T	7: 102,060,503 (GRCm39)	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,908,113 (GRCm39)	V217L	probably benign	Het
Thpo	G	A	16: 20,547,498 (GRCm39)	R38C	probably damaging	Het
Tmem210	A	G	2: 25,178,444 (GRCm39)	E35G	possibly damaging	Het
Trim12c	T	A	7: 103,990,075 (GRCm39)		probably benign	Het
Tvp23b	A	G	11: 62,774,455 (GRCm39)	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r73	A	G	7: 85,507,258 (GRCm39)	W685R	probably benign	Het
Zfp618	G	A	4: 63,051,801 (GRCm39)	A861T	probably benign	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
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
R7322:Zfp715	UTSW	7	42,960,562 (GRCm39)	missense	possibly damaging	0.53
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'- TGGCTCAGTGAATCTGACAC -3'
(R):5'- TGGGACCCTACCTCATTTCAAC -3'

Sequencing Primer
(F):5'- GAAAGCCTTTCCACCATTGTAGG -3'
(R):5'- TTTCAACACAAGAGGGTCTTCC -3'

Posted On

2015-04-06