Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Zfp646'

169449

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127476081-127485168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127479308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 495 (N495S)

Ref Sequence

ENSEMBL: ENSMUSP00000115499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000054415] [ENSMUST00000106261] [ENSMUST00000106262] [ENSMUST00000106263] [ENSMUST00000131000] [ENSMUST00000144721]

AlphaFold

Q6NV66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050383
AA Change: N495S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: N495S

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART
ZnF_C2H2	566	588	2.32e-1	SMART
ZnF_C2H2	606	628	6.32e-3	SMART
ZnF_C2H2	633	655	1.53e-1	SMART
low complexity region	737	750	N/A	INTRINSIC
low complexity region	786	797	N/A	INTRINSIC
ZnF_C2H2	806	828	2.17e-1	SMART
ZnF_C2H2	833	855	3.69e-4	SMART
ZnF_C2H2	866	889	1.16e-1	SMART
low complexity region	890	911	N/A	INTRINSIC
ZnF_C2H2	941	961	9.31e1	SMART
ZnF_C2H2	1035	1057	1.95e-3	SMART
ZnF_C2H2	1062	1084	3.39e-3	SMART
low complexity region	1149	1163	N/A	INTRINSIC
ZnF_C2H2	1170	1192	1.58e-3	SMART
ZnF_C2H2	1197	1219	5.42e-2	SMART
ZnF_C2H2	1225	1247	3.69e-4	SMART
ZnF_C2H2	1266	1286	5.12e1	SMART
ZnF_C2H2	1293	1315	3.69e-4	SMART
ZnF_C2H2	1333	1355	3.11e-2	SMART
ZnF_C2H2	1550	1572	5.9e-3	SMART
ZnF_C2H2	1640	1662	1.08e-1	SMART
ZnF_C2H2	1667	1689	4.11e-2	SMART
ZnF_C2H2	1695	1717	4.11e-2	SMART
ZnF_C2H2	1724	1746	1.45e-2	SMART
low complexity region	1751	1764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054415

SMART Domains

Protein: ENSMUSP00000056105
Gene: ENSMUSG00000049728

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	7.67e-2	SMART
ZnF_C2H2	84	106	9.44e-2	SMART
ZnF_C2H2	112	134	3.63e-3	SMART
ZnF_C2H2	140	162	2.36e-2	SMART
ZnF_C2H2	168	190	1.98e-4	SMART
ZnF_C2H2	196	218	2.91e-2	SMART
ZnF_C2H2	224	246	1.26e-2	SMART
ZnF_C2H2	252	274	5.21e-4	SMART
ZnF_C2H2	280	302	2.57e-3	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.79e-2	SMART
ZnF_C2H2	364	386	7.9e-4	SMART
ZnF_C2H2	392	414	5.5e-3	SMART
low complexity region	428	470	N/A	INTRINSIC
ZnF_C2H2	516	538	3.63e-3	SMART
ZnF_C2H2	544	566	1.3e-4	SMART
ZnF_C2H2	572	594	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106261

SMART Domains

Protein: ENSMUSP00000101868
Gene: ENSMUSG00000049728

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	7.67e-2	SMART
ZnF_C2H2	84	106	9.44e-2	SMART
ZnF_C2H2	112	134	3.63e-3	SMART
ZnF_C2H2	140	162	2.36e-2	SMART
ZnF_C2H2	168	190	1.98e-4	SMART
ZnF_C2H2	196	218	2.91e-2	SMART
ZnF_C2H2	224	246	1.26e-2	SMART
ZnF_C2H2	252	274	5.21e-4	SMART
ZnF_C2H2	280	302	2.57e-3	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.79e-2	SMART
ZnF_C2H2	364	386	7.9e-4	SMART
ZnF_C2H2	392	414	5.5e-3	SMART
low complexity region	428	470	N/A	INTRINSIC
ZnF_C2H2	516	538	3.63e-3	SMART
ZnF_C2H2	544	566	1.3e-4	SMART
ZnF_C2H2	572	594	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106262

SMART Domains

Protein: ENSMUSP00000101869
Gene: ENSMUSG00000049728

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	7.67e-2	SMART
ZnF_C2H2	84	106	9.44e-2	SMART
ZnF_C2H2	112	134	3.63e-3	SMART
ZnF_C2H2	140	162	2.36e-2	SMART
ZnF_C2H2	168	190	1.98e-4	SMART
ZnF_C2H2	196	218	2.91e-2	SMART
ZnF_C2H2	224	246	1.26e-2	SMART
ZnF_C2H2	252	274	5.21e-4	SMART
ZnF_C2H2	280	302	2.57e-3	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.79e-2	SMART
ZnF_C2H2	364	386	7.9e-4	SMART
ZnF_C2H2	392	414	5.5e-3	SMART
low complexity region	428	470	N/A	INTRINSIC
ZnF_C2H2	516	538	3.63e-3	SMART
ZnF_C2H2	544	566	1.3e-4	SMART
ZnF_C2H2	572	594	5.59e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106263

SMART Domains

Protein: ENSMUSP00000101870
Gene: ENSMUSG00000049728

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	7.67e-2	SMART
ZnF_C2H2	84	106	9.44e-2	SMART
ZnF_C2H2	112	134	3.63e-3	SMART
ZnF_C2H2	140	162	2.36e-2	SMART
ZnF_C2H2	168	190	1.98e-4	SMART
ZnF_C2H2	196	218	2.91e-2	SMART
ZnF_C2H2	224	246	1.26e-2	SMART
ZnF_C2H2	252	274	5.21e-4	SMART
ZnF_C2H2	280	302	2.57e-3	SMART
ZnF_C2H2	308	330	5.59e-4	SMART
ZnF_C2H2	336	358	1.79e-2	SMART
ZnF_C2H2	364	386	7.9e-4	SMART
ZnF_C2H2	392	414	5.5e-3	SMART
low complexity region	428	470	N/A	INTRINSIC
ZnF_C2H2	516	538	3.63e-3	SMART
ZnF_C2H2	544	566	1.3e-4	SMART
ZnF_C2H2	572	594	5.59e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131000
AA Change: N495S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739
AA Change: N495S

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	31	1.36e-2	SMART
ZnF_C2H2	67	89	5.29e-5	SMART
ZnF_C2H2	231	253	3.21e-4	SMART
ZnF_C2H2	258	280	9.58e-3	SMART
ZnF_C2H2	286	308	2.24e-3	SMART
low complexity region	345	362	N/A	INTRINSIC
ZnF_C2H2	366	388	5.42e-2	SMART
ZnF_C2H2	393	415	8.34e-3	SMART
ZnF_C2H2	457	479	5.9e-3	SMART
ZnF_C2H2	484	506	4.87e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144721

SMART Domains

Protein: ENSMUSP00000116730
Gene: ENSMUSG00000049728

Domain	Start	End	E-Value	Type
ZnF_C2H2	22	44	7.67e-2	SMART
ZnF_C2H2	84	106	9.44e-2	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000206340
AA Change: N275S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205364

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Atf7ip	G	T	6: 136,583,865 (GRCm39)	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,610,881 (GRCm39)	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430 (GRCm39)	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,731,430 (GRCm39)	D269N	possibly damaging	Het
Btd	T	G	14: 31,389,612 (GRCm39)	C444W	probably damaging	Het
Cacna1a	A	G	8: 85,328,575 (GRCm39)	D1624G	probably benign	Het
Carmil3	A	C	14: 55,735,737 (GRCm39)	N563T	probably damaging	Het
Cars1	T	C	7: 143,122,726 (GRCm39)	R538G	probably benign	Het
Catsperd	A	G	17: 56,961,525 (GRCm39)	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,852,581 (GRCm39)	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,906,760 (GRCm39)	N66S	probably benign	Het
Cd48	T	A	1: 171,523,415 (GRCm39)	L86H	probably damaging	Het
Cdan1	A	T	2: 120,560,056 (GRCm39)	H369Q	probably damaging	Het
Chil4	T	C	3: 106,113,350 (GRCm39)	D189G	probably benign	Het
Cit	T	A	5: 116,011,959 (GRCm39)	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,441,526 (GRCm39)	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,923,658 (GRCm39)	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,435,523 (GRCm39)		probably null	Het
Dmxl2	A	T	9: 54,354,272 (GRCm39)	Y391*	probably null	Het
Dnah12	T	C	14: 26,495,649 (GRCm39)	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,342,867 (GRCm39)	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,159 (GRCm39)	C484S	probably benign	Het
Dsg4	A	T	18: 20,582,736 (GRCm39)	I125F	probably damaging	Het
Egfr	T	A	11: 16,819,301 (GRCm39)	M277K	possibly damaging	Het
Eml5	G	T	12: 98,797,433 (GRCm39)	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,385,705 (GRCm39)	H295N	probably benign	Het
Etl4	T	G	2: 20,748,685 (GRCm39)	V139G	possibly damaging	Het
Fhip1a	T	A	3: 85,579,784 (GRCm39)	Y807F	possibly damaging	Het
Frem3	A	T	8: 81,413,647 (GRCm39)	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,583,296 (GRCm39)	D357V	probably damaging	Het
Gimap8	T	A	6: 48,624,463 (GRCm39)		probably null	Het
Gml2	C	A	15: 74,693,201 (GRCm39)	S68*	probably null	Het
Gphn	A	G	12: 78,551,403 (GRCm39)	I248V	possibly damaging	Het
Greb1	A	T	12: 16,774,820 (GRCm39)	Y192*	probably null	Het
Hmbs	A	C	9: 44,248,729 (GRCm39)	L215W	probably benign	Het
Iglon5	T	A	7: 43,128,449 (GRCm39)	T123S	probably benign	Het
Ints2	C	T	11: 86,117,607 (GRCm39)	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842 (GRCm39)	L212Q	probably damaging	Het
Itgad	A	G	7: 127,797,293 (GRCm39)	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,307,788 (GRCm39)	T51A	probably damaging	Het
Kif9	A	T	9: 110,339,506 (GRCm39)	K449N	possibly damaging	Het
Kifbp	A	G	10: 62,395,187 (GRCm39)	V485A	probably damaging	Het
Klk1b11	G	A	7: 43,428,333 (GRCm39)	W241*	probably null	Het
Krt32	T	C	11: 99,974,936 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,200,923 (GRCm39)	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 25,123,897 (GRCm39)	S571T	probably damaging	Het
Mcam	C	T	9: 44,052,588 (GRCm39)	R606C	probably damaging	Het
Mtss1	T	C	15: 58,823,521 (GRCm39)	N282S	probably damaging	Het
Myh13	T	A	11: 67,244,500 (GRCm39)	D1012E	probably benign	Het
Myo16	A	G	8: 10,552,817 (GRCm39)	T952A	probably benign	Het
Neb	T	C	2: 52,188,632 (GRCm39)	D874G	probably damaging	Het
Nek11	A	G	9: 105,040,403 (GRCm39)	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,082,312 (GRCm39)	V9D	probably benign	Het
Nxf1	T	A	19: 8,739,800 (GRCm39)	F51L	probably benign	Het
Or1e1f	T	G	11: 73,855,394 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,458,885 (GRCm39)	I92F	probably damaging	Het
Or2aj5	A	G	16: 19,425,062 (GRCm39)	S119P	probably benign	Het
Or4c35	T	C	2: 89,808,872 (GRCm39)	V250A	probably damaging	Het
Or5bw2	A	G	7: 6,573,470 (GRCm39)	N160S	probably damaging	Het
Or6s1	A	G	14: 51,308,191 (GRCm39)	S220P	probably damaging	Het
Or6z6	T	C	7: 6,491,178 (GRCm39)	I232V	probably damaging	Het
Pcdhb8	A	T	18: 37,489,572 (GRCm39)	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,297,685 (GRCm39)	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,578,599 (GRCm39)	H434Q	probably benign	Het
Prpf19	T	A	19: 10,878,386 (GRCm39)	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,307,695 (GRCm39)	E319*	probably null	Het
Sel1l3	A	G	5: 53,295,271 (GRCm39)	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,798,019 (GRCm39)	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,998 (GRCm39)	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,764,155 (GRCm39)	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,717,973 (GRCm39)	I304N	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox17	C	A	1: 4,562,151 (GRCm39)	G222C	probably damaging	Het
Trmu	T	A	15: 85,779,220 (GRCm39)	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,887,945 (GRCm39)	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,484,857 (GRCm39)	D885E	probably benign	Het
Zfp663	T	C	2: 165,194,573 (GRCm39)	T549A	probably damaging	Het
Zfp935	G	A	13: 62,602,951 (GRCm39)	A83V	possibly damaging	Het

Other mutations in Zfp646

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Zfp646	APN	7	127,478,302 (GRCm39)	missense	possibly damaging	0.91
IGL01669:Zfp646	APN	7	127,478,137 (GRCm39)	missense	probably benign
IGL02571:Zfp646	APN	7	127,478,584 (GRCm39)	missense	probably damaging	1.00
R0009:Zfp646	UTSW	7	127,479,903 (GRCm39)	missense	probably damaging	0.96
R0084:Zfp646	UTSW	7	127,480,476 (GRCm39)	missense	possibly damaging	0.86
R0140:Zfp646	UTSW	7	127,482,678 (GRCm39)	missense	probably benign	0.41
R0394:Zfp646	UTSW	7	127,482,434 (GRCm39)	missense	possibly damaging	0.85
R0571:Zfp646	UTSW	7	127,481,138 (GRCm39)	missense	probably damaging	0.96
R0924:Zfp646	UTSW	7	127,482,982 (GRCm39)	nonsense	probably null
R0930:Zfp646	UTSW	7	127,482,982 (GRCm39)	nonsense	probably null
R1219:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1221:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1351:Zfp646	UTSW	7	127,482,683 (GRCm39)	missense	probably benign
R1370:Zfp646	UTSW	7	127,479,036 (GRCm39)	missense	probably damaging	1.00
R1605:Zfp646	UTSW	7	127,479,359 (GRCm39)	splice site	probably null
R1817:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1818:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1819:Zfp646	UTSW	7	127,482,292 (GRCm39)	missense	probably benign
R1838:Zfp646	UTSW	7	127,478,911 (GRCm39)	missense	probably damaging	1.00
R1870:Zfp646	UTSW	7	127,483,021 (GRCm39)	missense	possibly damaging	0.85
R2100:Zfp646	UTSW	7	127,481,359 (GRCm39)	missense	probably damaging	1.00
R2763:Zfp646	UTSW	7	127,479,210 (GRCm39)	nonsense	probably null
R4346:Zfp646	UTSW	7	127,478,681 (GRCm39)	missense	probably damaging	1.00
R4770:Zfp646	UTSW	7	127,482,649 (GRCm39)	missense	possibly damaging	0.83
R4824:Zfp646	UTSW	7	127,482,907 (GRCm39)	missense	probably benign	0.00
R4936:Zfp646	UTSW	7	127,480,933 (GRCm39)	missense	possibly damaging	0.93
R4937:Zfp646	UTSW	7	127,478,354 (GRCm39)	missense	probably benign	0.01
R5062:Zfp646	UTSW	7	127,479,671 (GRCm39)	missense	probably damaging	0.99
R5424:Zfp646	UTSW	7	127,481,875 (GRCm39)	missense	possibly damaging	0.72
R5610:Zfp646	UTSW	7	127,478,530 (GRCm39)	missense	probably damaging	1.00
R5729:Zfp646	UTSW	7	127,484,626 (GRCm39)	missense	probably damaging	0.99
R6112:Zfp646	UTSW	7	127,478,190 (GRCm39)	missense	possibly damaging	0.71
R6161:Zfp646	UTSW	7	127,477,897 (GRCm39)	missense	probably damaging	1.00
R6310:Zfp646	UTSW	7	127,483,079 (GRCm39)	missense	probably benign	0.13
R6331:Zfp646	UTSW	7	127,482,853 (GRCm39)	missense	probably damaging	0.99
R6436:Zfp646	UTSW	7	127,479,113 (GRCm39)	missense	probably benign	0.00
R6814:Zfp646	UTSW	7	127,482,505 (GRCm39)	missense	probably benign	0.17
R6872:Zfp646	UTSW	7	127,482,505 (GRCm39)	missense	probably benign	0.17
R6903:Zfp646	UTSW	7	127,479,892 (GRCm39)	missense	possibly damaging	0.91
R7018:Zfp646	UTSW	7	127,481,494 (GRCm39)	missense	probably benign
R7049:Zfp646	UTSW	7	127,479,199 (GRCm39)	missense	possibly damaging	0.93
R7121:Zfp646	UTSW	7	127,478,944 (GRCm39)	missense	possibly damaging	0.95
R7405:Zfp646	UTSW	7	127,477,968 (GRCm39)	nonsense	probably null
R8345:Zfp646	UTSW	7	127,483,082 (GRCm39)	missense	probably benign	0.12
R8545:Zfp646	UTSW	7	127,484,662 (GRCm39)	missense	probably benign
R8909:Zfp646	UTSW	7	127,478,515 (GRCm39)	missense	probably damaging	0.99
R8983:Zfp646	UTSW	7	127,480,777 (GRCm39)	missense	probably benign
R9001:Zfp646	UTSW	7	127,478,856 (GRCm39)	missense	probably damaging	0.96
R9018:Zfp646	UTSW	7	127,478,243 (GRCm39)	missense	probably benign
R9118:Zfp646	UTSW	7	127,480,810 (GRCm39)	missense
R9414:Zfp646	UTSW	7	127,481,050 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp646	UTSW	7	127,479,804 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTGCTCTTACGTCAGCCGAGAATAC -3'
(R):5'- ACACACCTGTGGCACTGTCCTATC -3'

Sequencing Primer
(F):5'- TACTCCAAAAGTGGACGAGGTC -3'
(R):5'- CCTATCTGCCATTGAGGGGTTAC -3'

Posted On

2014-04-13