Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Zfp646'

545451

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127876221-127885996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127882322 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1224 (Q1224K)

Ref Sequence

ENSEMBL: ENSMUSP00000052641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000121394] [ENSMUST00000131000] [ENSMUST00000205300]

AlphaFold

Q6NV66

Predicted Effect

probably benign
Transcript: ENSMUST00000050383
AA Change: Q1224K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: Q1224K

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: ENSMUST00000121394

SMART Domains

Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Tryp_SPc	38	268	3.91e-45	SMART
Tryp_SPc	300	520	9.95e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126662

SMART Domains

Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

Domain	Start	End	E-Value	Type
VKc	1	111	8.84e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131000

SMART Domains

Protein: ENSMUSP00000115499
Gene: ENSMUSG00000049739

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: ENSMUST00000205300

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	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
R1503:Zfp646	UTSW	7	127880136	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
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'- GGCCCTTTAGCTGTGAAGTG -3'
(R):5'- TGTCGCCGCTGTTGACTATC -3'

Sequencing Primer
(F):5'- GTGTGGCCGCACCTACAAG -3'
(R):5'- GCCGCTGTTGACTATCAGAATGTAC -3'

Posted On

2019-05-13