Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Zfp646'

380381

Institutional Source

Beutler Lab

Gene Symbol

Zfp646

Ensembl Gene

ENSMUSG00000049739

Gene Name

zinc finger protein 646

Synonyms

MMRRC Submission

042536-MU

Accession Numbers

Essential gene?

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

Stock #

R4936 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

127476081-127485168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127480933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1037 (C1037S)

Ref Sequence

ENSEMBL: ENSMUSP00000052641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000054415] [ENSMUST00000106262] [ENSMUST00000106263] [ENSMUST00000121394] [ENSMUST00000131000] [ENSMUST00000205300]

AlphaFold

Q6NV66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050383
AA Change: C1037S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739
AA Change: C1037S

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: 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 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

unknown
Transcript: ENSMUST00000206340
AA Change: C817S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205364

Predicted Effect

probably benign
Transcript: ENSMUST00000205300

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,212 (GRCm39)	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,921,245 (GRCm39)	M775K	probably damaging	Het
Actn1	T	G	12: 80,219,772 (GRCm39)	I700L	probably benign	Het
Adam5	T	C	8: 25,276,287 (GRCm39)	Y460C	probably damaging	Het
Akna	C	T	4: 63,313,502 (GRCm39)	G207E	probably damaging	Het
Ank2	T	A	3: 126,748,688 (GRCm39)	H527L	possibly damaging	Het
Anks1	C	A	17: 28,207,779 (GRCm39)	N383K	probably damaging	Het
Apba3	C	T	10: 81,105,204 (GRCm39)		probably null	Het
Atp9b	C	A	18: 80,779,308 (GRCm39)	V1121F	possibly damaging	Het
Bsn	T	C	9: 107,988,960 (GRCm39)	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,997,799 (GRCm39)	D266G	probably damaging	Het
Cep55	A	G	19: 38,060,202 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckb	T	C	12: 111,637,664 (GRCm39)	K156E	probably benign	Het
Cln3	T	A	7: 126,174,393 (GRCm39)	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,227,796 (GRCm39)	F479S	probably damaging	Het
Col1a1	A	G	11: 94,837,958 (GRCm39)	D826G	unknown	Het
Cyp27a1	T	C	1: 74,774,564 (GRCm39)	V194A	probably benign	Het
Dis3l2	C	T	1: 86,971,890 (GRCm39)	P643S	probably benign	Het
Dpf3	T	C	12: 83,378,740 (GRCm39)	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,350,241 (GRCm39)	G27D	probably benign	Het
Eif4a1	T	G	11: 69,563,251 (GRCm39)		probably benign	Het
Espl1	A	T	15: 102,213,372 (GRCm39)	D566V	probably damaging	Het
Ext2	T	A	2: 93,644,024 (GRCm39)	R86*	probably null	Het
Fasn	A	T	11: 120,706,911 (GRCm39)	F914I	probably damaging	Het
Fbf1	A	G	11: 116,043,378 (GRCm39)	L477P	probably benign	Het
Fsd1	A	T	17: 56,303,452 (GRCm39)	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,815,384 (GRCm39)	S3706T	probably benign	Het
Gabra5	A	T	7: 57,058,547 (GRCm39)	N400K	probably benign	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gli2	A	G	1: 118,763,870 (GRCm39)	V1427A	probably benign	Het
Gm7334	A	T	17: 51,005,855 (GRCm39)	Y47F	probably damaging	Het
Gm8674	T	G	13: 50,054,791 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,896,039 (GRCm39)	T377K	probably benign	Het
Gp9	T	A	6: 87,756,229 (GRCm39)	D81E	probably benign	Het
Il5ra	T	A	6: 106,715,123 (GRCm39)	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,258,029 (GRCm39)	N470K	possibly damaging	Het
Lfng	G	T	5: 140,598,150 (GRCm39)		probably null	Het
Lpo	A	G	11: 87,701,166 (GRCm39)	I430T	probably benign	Het
Lrrc31	C	T	3: 30,743,417 (GRCm39)	D183N	probably damaging	Het
Meis2	T	C	2: 115,694,893 (GRCm39)	T410A	probably benign	Het
Myo6	A	G	9: 80,214,963 (GRCm39)	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,146,803 (GRCm39)	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,319,743 (GRCm39)	V251M	probably damaging	Het
Nmbr	C	A	10: 14,642,730 (GRCm39)	H96Q	probably damaging	Het
Nop14	C	T	5: 34,809,737 (GRCm39)	R256H	probably damaging	Het
Nqo2	T	A	13: 34,165,501 (GRCm39)	Y133N	probably damaging	Het
Or1f12	T	C	13: 21,721,357 (GRCm39)	I273V	probably benign	Het
Or5w20	A	G	2: 87,727,157 (GRCm39)	I213V	probably benign	Het
Pbld2	C	A	10: 62,888,017 (GRCm39)	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,475,202 (GRCm39)	G113*	probably null	Het
Pcdhb7	G	T	18: 37,475,203 (GRCm39)	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,355,687 (GRCm39)	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,332,881 (GRCm39)		probably null	Het
Prdm8	G	T	5: 98,332,882 (GRCm39)		probably null	Het
Prkg1	T	C	19: 30,563,775 (GRCm39)	Y479C	probably benign	Het
Pudp	T	C	18: 50,701,539 (GRCm39)	T65A	probably benign	Het
Rbbp6	C	T	7: 122,598,926 (GRCm39)		probably benign	Het
Rcc1	C	G	4: 132,063,046 (GRCm39)	V187L	probably damaging	Het
Rims2	T	A	15: 39,301,124 (GRCm39)	M285K	probably damaging	Het
Rtkn2	T	C	10: 67,877,745 (GRCm39)	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,866 (GRCm39)	S169R	probably damaging	Het
Sardh	T	C	2: 27,118,253 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,584 (GRCm39)	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,559,191 (GRCm39)	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,070,864 (GRCm39)	R408G	probably damaging	Het
Slc44a5	T	G	3: 153,959,353 (GRCm39)	I348S	probably damaging	Het
Slc8a2	A	T	7: 15,868,100 (GRCm39)	K111*	probably null	Het
Smc5	A	G	19: 23,211,367 (GRCm39)	V589A	probably damaging	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,605,882 (GRCm39)	M541T	probably benign	Het
Tie1	T	A	4: 118,341,968 (GRCm39)		silent	Het
Tln1	A	G	4: 43,547,522 (GRCm39)	F813S	possibly damaging	Het
Tnrc18	A	T	5: 142,751,732 (GRCm39)	L1191*	probably null	Het
Tubb2a	A	C	13: 34,259,240 (GRCm39)	Y183*	probably null	Het
Ubr4	T	A	4: 139,123,877 (GRCm39)	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,524,327 (GRCm39)	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,647,494 (GRCm39)	S624R	probably benign	Het
Wwox	G	A	8: 115,433,098 (GRCm39)	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804 (GRCm39)	K546E	probably damaging	Het
Xirp2	T	A	2: 67,340,163 (GRCm39)	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,577,589 (GRCm39)	I1175V	probably benign	Het
Zfp786	A	T	6: 47,798,202 (GRCm39)	C245*	probably null	Het
Zfp827	T	C	8: 79,787,812 (GRCm39)	V326A	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
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
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'- GCAATAGGACAGAGAATGTTCCTAG -3'
(R):5'- TTCTGAGATGGGCCCCATTTG -3'

Sequencing Primer
(F):5'- TCCTAGCCATTTGGAAGGAGC -3'
(R):5'- CCATTTGGGGCTCTGAGC -3'

Posted On

2016-04-15