Mutagenetix > Incidental Mutation

Incidental Mutation 'R0571:Zfp646'

46457

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

038762-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R0571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127476081-127485168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127481138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1105 (E1105G)

Ref Sequence

ENSEMBL: ENSMUSP00000052641 (fasta)

Gene Model

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

AlphaFold

Q6NV66

Predicted Effect

probably damaging
Transcript: ENSMUST00000050383
AA Change: E1105G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: E1105G

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

noncoding transcript
Transcript: ENSMUST00000205364

Predicted Effect

unknown
Transcript: ENSMUST00000206340
AA Change: E885G

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	C	T	14: 54,500,706 (GRCm39)	T165I	possibly damaging	Het
Acsl5	A	G	19: 55,277,343 (GRCm39)		probably benign	Het
Actl6b	C	A	5: 137,565,046 (GRCm39)		probably benign	Het
Atg13	T	C	2: 91,509,063 (GRCm39)		probably benign	Het
Cabyr	A	G	18: 12,883,909 (GRCm39)	E132G	probably damaging	Het
Cadps2	C	T	6: 23,583,411 (GRCm39)	V389I	probably damaging	Het
Capn2	C	T	1: 182,298,325 (GRCm39)	V647I	probably benign	Het
Card10	G	T	15: 78,671,601 (GRCm39)	P621Q	possibly damaging	Het
Catsperb	C	G	12: 101,569,033 (GRCm39)	H902D	possibly damaging	Het
Cers3	A	G	7: 66,435,805 (GRCm39)	M255V	possibly damaging	Het
Cfh	T	C	1: 140,030,071 (GRCm39)		probably null	Het
Chd3	A	C	11: 69,252,495 (GRCm39)		probably null	Het
Chpf2	G	T	5: 24,795,425 (GRCm39)	R316L	probably damaging	Het
Clca3a1	T	A	3: 144,713,550 (GRCm39)	N694Y	probably damaging	Het
Cplane1	A	G	15: 8,289,277 (GRCm39)	D2909G	unknown	Het
Ctbp2	G	A	7: 132,616,534 (GRCm39)	L44F	probably damaging	Het
Cttnbp2	T	C	6: 18,381,102 (GRCm39)	M1365V	probably benign	Het
D130052B06Rik	G	A	11: 33,573,922 (GRCm39)	R173H	probably benign	Het
Dchs1	A	G	7: 105,421,203 (GRCm39)	F406L	probably damaging	Het
Ddx43	T	A	9: 78,321,145 (GRCm39)	N384K	possibly damaging	Het
Drd5	G	A	5: 38,477,270 (GRCm39)	V88M	probably damaging	Het
Eefsec	A	T	6: 88,274,881 (GRCm39)	F361Y	probably benign	Het
Epb41	T	C	4: 131,717,215 (GRCm39)	D313G	probably damaging	Het
Etl4	T	C	2: 20,748,580 (GRCm39)	M104T	probably damaging	Het
Fabp7	A	T	10: 57,661,637 (GRCm39)	T37S	probably benign	Het
Fam186b	T	C	15: 99,184,834 (GRCm39)	T30A	probably benign	Het
Fam83d	G	A	2: 158,627,611 (GRCm39)	W433*	probably null	Het
Fmnl2	A	T	2: 52,944,503 (GRCm39)	T161S	probably benign	Het
Ghsr	C	T	3: 27,426,165 (GRCm39)	R74C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Gtpbp4	A	T	13: 9,040,722 (GRCm39)		probably benign	Het
Hamp2	A	G	7: 30,623,511 (GRCm39)	L17P	possibly damaging	Het
Heatr1	C	A	13: 12,445,121 (GRCm39)	S1581R	probably damaging	Het
Hpf1	T	C	8: 61,353,147 (GRCm39)	V176A	probably benign	Het
Hydin	T	A	8: 111,240,735 (GRCm39)		probably null	Het
Ighg2c	G	A	12: 113,252,382 (GRCm39)	Q57*	probably null	Het
Itgb4	A	G	11: 115,870,594 (GRCm39)	N141S	possibly damaging	Het
Kif13b	G	T	14: 64,988,977 (GRCm39)	R786L	probably damaging	Het
Lhx3	C	A	2: 26,091,136 (GRCm39)	W391L	probably damaging	Het
Map1s	T	A	8: 71,365,551 (GRCm39)	V152D	probably damaging	Het
Map4	T	C	9: 109,865,834 (GRCm39)	M608T	probably benign	Het
Mb21d2	G	A	16: 28,748,324 (GRCm39)	A31V	probably benign	Het
Mfn1	T	C	3: 32,615,621 (GRCm39)	I328T	probably damaging	Het
Mif-ps9	G	A	19: 56,743,675 (GRCm39)		noncoding transcript	Het
Myh4	A	T	11: 67,141,157 (GRCm39)	I740F	possibly damaging	Het
Neo1	A	G	9: 58,893,069 (GRCm39)	V191A	probably benign	Het
Nfatc4	T	C	14: 56,067,485 (GRCm39)	V565A	probably damaging	Het
Nrxn2	G	C	19: 6,523,563 (GRCm39)	E525D	probably damaging	Het
Or12k8	T	C	2: 36,975,346 (GRCm39)	H138R	probably benign	Het
Pcdhb12	A	T	18: 37,570,261 (GRCm39)	D469V	probably damaging	Het
Pcdhb6	G	T	18: 37,468,167 (GRCm39)	V363L	probably benign	Het
Pkd1l2	T	C	8: 117,808,957 (GRCm39)	T78A	probably benign	Het
Primpol	T	G	8: 47,034,674 (GRCm39)	D418A	probably damaging	Het
Rbm12b1	G	A	4: 12,146,248 (GRCm39)	S740N	probably benign	Het
Rpe65	T	C	3: 159,305,986 (GRCm39)	L15P	probably damaging	Het
Rxrb	CGCGGCGGCGGCGGCGGCGGC	CGCGGCGGCGGCGGCGGC	17: 34,251,106 (GRCm39)		probably benign	Het
Sectm1a	A	G	11: 120,959,928 (GRCm39)		probably benign	Het
Sft2d1	C	A	17: 8,545,782 (GRCm39)		probably benign	Het
Slc22a18	A	G	7: 143,045,598 (GRCm39)		probably benign	Het
Slu7	G	A	11: 43,332,405 (GRCm39)		probably null	Het
Smc4	T	C	3: 68,931,622 (GRCm39)	V572A	probably damaging	Het
Spire2	T	A	8: 124,080,855 (GRCm39)	I33N	probably damaging	Het
Tbck	T	A	3: 132,458,403 (GRCm39)	C678S	probably damaging	Het
Tnrc6b	T	C	15: 80,797,539 (GRCm39)	V1362A	probably damaging	Het
Ttn	T	C	2: 76,570,326 (GRCm39)	K25110E	possibly damaging	Het
Ugt2b35	A	G	5: 87,148,793 (GRCm39)	S15G	possibly damaging	Het
Upf3a	T	A	8: 13,842,184 (GRCm39)	I200K	probably damaging	Het
Vill	G	C	9: 118,899,701 (GRCm39)	G295A	possibly damaging	Het
Vmn1r191	A	T	13: 22,363,217 (GRCm39)	V179D	probably damaging	Het
Vmn2r74	T	C	7: 85,601,629 (GRCm39)	T670A	probably damaging	Het
Zfp169	T	C	13: 48,643,166 (GRCm39)	T654A	possibly damaging	Het
Zyg11b	A	T	4: 108,117,239 (GRCm39)	Y334N	probably 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
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
R1503:Zfp646	UTSW	7	127,479,308 (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'- ACAGTGACCTCCGTCTCAGAAGAAG -3'
(R):5'- TCAGTCTGACAGCCTGTCTCCAAC -3'

Sequencing Primer
(F):5'- TCCAATGTAACCAGTGTGGC -3'
(R):5'- AGCCTGTCTCCAACTCCTG -3'

Posted On

2013-06-11