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?

Probably non essential (E-score: 0.143) question?

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127876221-127885996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127880136 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000150961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205364

Predicted Effect

unknown
Transcript: ENSMUST00000206340
AA Change: N275S

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: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kcnj1	A	G	9: 32,396,492	T51A	probably damaging	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	possibly damaging	Het

Other mutations in Zfp646

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Zfp646	APN	7	127879130	missense	possibly damaging	0.91
IGL01669:Zfp646	APN	7	127878965	missense	probably benign
IGL02571:Zfp646	APN	7	127879412	missense	probably damaging	1.00
R0009:Zfp646	UTSW	7	127880731	missense	probably damaging	0.96
R0084:Zfp646	UTSW	7	127881304	missense	possibly damaging	0.86
R0140:Zfp646	UTSW	7	127883506	missense	probably benign	0.41
R0394:Zfp646	UTSW	7	127883262	missense	possibly damaging	0.85
R0571:Zfp646	UTSW	7	127881966	missense	probably damaging	0.96
R0924:Zfp646	UTSW	7	127883810	nonsense	probably null
R0930:Zfp646	UTSW	7	127883810	nonsense	probably null
R1219:Zfp646	UTSW	7	127883120	missense	probably benign
R1221:Zfp646	UTSW	7	127883120	missense	probably benign
R1351:Zfp646	UTSW	7	127883511	missense	probably benign
R1370:Zfp646	UTSW	7	127879864	missense	probably damaging	1.00
R1605:Zfp646	UTSW	7	127880187	splice site	probably null
R1817:Zfp646	UTSW	7	127883120	missense	probably benign
R1818:Zfp646	UTSW	7	127883120	missense	probably benign
R1819:Zfp646	UTSW	7	127883120	missense	probably benign
R1838:Zfp646	UTSW	7	127879739	missense	probably damaging	1.00
R1870:Zfp646	UTSW	7	127883849	missense	possibly damaging	0.85
R2100:Zfp646	UTSW	7	127882187	missense	probably damaging	1.00
R2763:Zfp646	UTSW	7	127880038	nonsense	probably null
R4346:Zfp646	UTSW	7	127879509	missense	probably damaging	1.00
R4770:Zfp646	UTSW	7	127883477	missense	possibly damaging	0.83
R4824:Zfp646	UTSW	7	127883735	missense	probably benign	0.00
R4936:Zfp646	UTSW	7	127881761	missense	possibly damaging	0.93
R4937:Zfp646	UTSW	7	127879182	missense	probably benign	0.01
R5062:Zfp646	UTSW	7	127880499	missense	probably damaging	0.99
R5424:Zfp646	UTSW	7	127882703	missense	possibly damaging	0.72
R5610:Zfp646	UTSW	7	127879358	missense	probably damaging	1.00
R5729:Zfp646	UTSW	7	127885454	missense	probably damaging	0.99
R6112:Zfp646	UTSW	7	127879018	missense	possibly damaging	0.71
R6161:Zfp646	UTSW	7	127878725	missense	probably damaging	1.00
R6310:Zfp646	UTSW	7	127883907	missense	probably benign	0.13
R6331:Zfp646	UTSW	7	127883681	missense	probably damaging	0.99
R6436:Zfp646	UTSW	7	127879941	missense	probably benign	0.00
R6814:Zfp646	UTSW	7	127883333	missense	probably benign	0.17
R6872:Zfp646	UTSW	7	127883333	missense	probably benign	0.17
R6903:Zfp646	UTSW	7	127880720	missense	possibly damaging	0.91
R7018:Zfp646	UTSW	7	127882322	missense	probably benign
R7049:Zfp646	UTSW	7	127880027	missense	possibly damaging	0.93
R7121:Zfp646	UTSW	7	127879772	missense	possibly damaging	0.95
R7405:Zfp646	UTSW	7	127878796	nonsense	probably null
R8345:Zfp646	UTSW	7	127883910	missense	probably benign	0.12
R8545:Zfp646	UTSW	7	127885490	missense	probably benign
R8909:Zfp646	UTSW	7	127879343	missense	probably damaging	0.99
R8983:Zfp646	UTSW	7	127881605	missense	probably benign
R9001:Zfp646	UTSW	7	127879684	missense	probably damaging	0.96
R9018:Zfp646	UTSW	7	127879071	missense	probably benign
R9118:Zfp646	UTSW	7	127881638	missense
R9414:Zfp646	UTSW	7	127881878	missense	probably damaging	0.99
Z1177:Zfp646	UTSW	7	127880632	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