Mutagenetix > Incidental Mutation

Incidental Mutation 'R1870:Zfp646'

210648

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

039892-MU

Accession Numbers

Essential gene?

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

Stock #

R1870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127476081-127485168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127483021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1733 (F1733L)

Ref Sequence

ENSEMBL: ENSMUSP00000052641 (fasta)

Gene Model

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

AlphaFold

Q6NV66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050383
AA Change: F1733L

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: F1733L

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

unknown
Transcript: ENSMUST00000206340
AA Change: F1513L

Meta Mutation Damage Score

0.5056

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.1%

Validation Efficiency

97% (96/99)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abca5	C	A	11: 110,220,043 (GRCm39)	V8L	probably benign	Het
Abcc8	C	T	7: 45,773,339 (GRCm39)	E797K	probably benign	Het
Acd	C	A	8: 106,425,039 (GRCm39)		probably null	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Alox12b	T	C	11: 69,049,199 (GRCm39)	Y83H	possibly damaging	Het
Antxr2	A	T	5: 98,178,297 (GRCm39)	S38T	probably damaging	Het
Aox1	A	G	1: 58,115,262 (GRCm39)	E749G	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Bcan	T	C	3: 87,902,908 (GRCm39)	Y290C	probably damaging	Het
Bod1l	G	A	5: 41,991,018 (GRCm39)	S179F	possibly damaging	Het
Catsper3	A	C	13: 55,953,561 (GRCm39)	D224A	probably damaging	Het
Ccar2	A	G	14: 70,377,946 (GRCm39)	S680P	probably damaging	Het
Ccdc18	A	G	5: 108,368,703 (GRCm39)	H1275R	possibly damaging	Het
Ccdc40	T	C	11: 119,150,730 (GRCm39)	M1011T	possibly damaging	Het
Cfap46	T	A	7: 139,263,386 (GRCm39)	D17V	probably damaging	Het
Csn1s2a	T	C	5: 87,926,058 (GRCm39)	F45L	probably benign	Het
Cwf19l2	T	G	9: 3,458,802 (GRCm39)	N750K	possibly damaging	Het
Cyb5r4	A	G	9: 86,922,462 (GRCm39)	D157G	probably benign	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dennd4a	C	T	9: 64,804,516 (GRCm39)	A1285V	probably benign	Het
Dlat	A	G	9: 50,548,874 (GRCm39)	S561P	probably damaging	Het
Dlgap2	T	A	8: 14,823,347 (GRCm39)	V522E	probably damaging	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Dnase2a	T	C	8: 85,635,392 (GRCm39)		probably benign	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Fam83f	T	C	15: 80,574,113 (GRCm39)		probably benign	Het
Firrm	G	A	1: 163,792,363 (GRCm39)	L545F	probably damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Galk2	T	C	2: 125,817,183 (GRCm39)	L324P	probably benign	Het
Gdpd4	G	A	7: 97,622,162 (GRCm39)	V214I	probably benign	Het
Gfra3	C	T	18: 34,844,373 (GRCm39)	A56T	probably damaging	Het
Glyctk	A	G	9: 106,032,547 (GRCm39)	S489P	probably damaging	Het
Izumo4	A	T	10: 80,539,569 (GRCm39)	I135F	probably damaging	Het
Krt87	T	A	15: 101,385,071 (GRCm39)	T342S	probably benign	Het
L1td1	T	A	4: 98,625,714 (GRCm39)	D636E	possibly damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lpin1	A	G	12: 16,591,744 (GRCm39)	F828L	probably damaging	Het
Lrrc37	T	C	11: 103,511,431 (GRCm39)	D179G	unknown	Het
Mdn1	T	A	4: 32,763,339 (GRCm39)	D5146E	probably damaging	Het
Megf10	T	A	18: 57,324,257 (GRCm39)	Y99*	probably null	Het
Men1	A	G	19: 6,387,660 (GRCm39)	D285G	probably damaging	Het
Mertk	T	G	2: 128,643,116 (GRCm39)	D838E	probably benign	Het
Mta1	T	C	12: 113,091,694 (GRCm39)	S266P	possibly damaging	Het
Mta3	G	A	17: 84,089,397 (GRCm39)	V320M	probably damaging	Het
Nlrp9c	G	A	7: 26,084,245 (GRCm39)	Q445*	probably null	Het
Or2m12	A	T	16: 19,105,357 (GRCm39)	N45K	probably damaging	Het
Or51e1	T	C	7: 102,358,961 (GRCm39)	I165T	possibly damaging	Het
Or8b38	A	T	9: 37,972,646 (GRCm39)	K10I	probably benign	Het
Or8d6	T	G	9: 39,854,117 (GRCm39)	I187R	probably damaging	Het
Pbrm1	T	A	14: 30,828,132 (GRCm39)	L1320I	probably damaging	Het
Pdzd2	G	T	15: 12,457,972 (GRCm39)	T297K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Pik3c3	T	C	18: 30,426,185 (GRCm39)		probably null	Het
Pira2	T	C	7: 3,847,452 (GRCm39)	N79S	probably damaging	Het
Pkdrej	G	T	15: 85,700,632 (GRCm39)	T1768K	probably damaging	Het
Plcb3	T	C	19: 6,940,353 (GRCm39)	I439V	probably benign	Het
Pold4	T	A	19: 4,282,593 (GRCm39)	Y58*	probably null	Het
Ppef2	T	G	5: 92,398,371 (GRCm39)	Q49P	probably damaging	Het
Ralgapa1	T	A	12: 55,723,817 (GRCm39)	I2026F	possibly damaging	Het
Rest	T	A	5: 77,416,209 (GRCm39)	V141E	possibly damaging	Het
Rnf139	T	C	15: 58,771,202 (GRCm39)	V409A	probably benign	Het
Rnpc3	T	C	3: 113,404,704 (GRCm39)		probably benign	Het
S100a10	A	T	3: 93,468,377 (GRCm39)	E36V	probably benign	Het
S1pr3	A	C	13: 51,573,952 (GRCm39)	K378Q	probably benign	Het
Scaper	T	A	9: 55,593,222 (GRCm39)	I472F	probably damaging	Het
Sgcg	G	A	14: 61,477,896 (GRCm39)		probably benign	Het
Shank1	A	T	7: 43,991,539 (GRCm39)	R69*	probably null	Het
Shoc1	G	A	4: 59,054,142 (GRCm39)		probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc25a54	T	A	3: 108,987,932 (GRCm39)	Y24*	probably null	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slc41a2	G	A	10: 83,137,029 (GRCm39)	Q293*	probably null	Het
Slc4a7	T	C	14: 14,737,509 (GRCm38)		probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Ssr2	T	C	3: 88,483,949 (GRCm39)		probably benign	Het
Tecrl	T	A	5: 83,502,706 (GRCm39)	T33S	probably benign	Het
Tnfrsf9	T	A	4: 151,018,804 (GRCm39)	C158*	probably null	Het
Tradd	T	C	8: 105,985,792 (GRCm39)	E253G	possibly damaging	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r27	T	C	6: 124,201,170 (GRCm39)	I262M	probably benign	Het
Vps13a	A	G	19: 16,737,316 (GRCm39)	V91A	probably damaging	Het
Vwf	C	T	6: 125,619,902 (GRCm39)	R1527C	probably damaging	Het
Wwc1	C	T	11: 35,752,772 (GRCm39)	G763D	probably damaging	Het
Zfp526	T	G	7: 24,924,594 (GRCm39)	D284E	possibly damaging	Het
Zfp90	A	G	8: 107,145,755 (GRCm39)	H29R	probably benign	Het
Zkscan4	A	G	13: 21,668,104 (GRCm39)	E185G	probably benign	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
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
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'- GCCTAACCTGCTGTCTCTCAAG -3'
(R):5'- AGGCCTTTCAAGCTAGATGGTC -3'

Sequencing Primer
(F):5'- TGTCTCTCAAGAACCACAGTCGG -3'
(R):5'- TTCAAGCTAGATGGTCAGTCC -3'

Posted On

2014-06-30