Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Zcchc6'

481023

Institutional Source

Beutler Lab

Gene Symbol

Zcchc6

Ensembl Gene

ENSMUSG00000035248

Gene Name

zinc finger, CCHC domain containing 6

Synonyms

6030448M23Rik

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.779) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59771561-59823147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59789209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 806 (Y806S)

Ref Sequence

ENSEMBL: ENSMUSP00000153376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071703] [ENSMUST00000224480]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071703
AA Change: Y1208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071623
Gene: ENSMUSG00000035248
AA Change: Y1208S

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	176	190	N/A	INTRINSIC
ZnF_C2H2	244	268	2.61e1	SMART
SCOP:d1f5aa2	284	497	4e-25	SMART
low complexity region	522	534	N/A	INTRINSIC
Pfam:PAP_assoc	550	603	6.7e-14	PFAM
low complexity region	811	825	N/A	INTRINSIC
low complexity region	846	857	N/A	INTRINSIC
low complexity region	882	898	N/A	INTRINSIC
ZnF_C2HC	960	976	3.3e-3	SMART
Pfam:NTP_transf_2	1022	1134	4e-8	PFAM
Pfam:PAP_assoc	1229	1282	1.7e-17	PFAM
ZnF_C2HC	1342	1358	2.09e-3	SMART
Pfam:TUTF7_u4	1359	1446	1.6e-42	PFAM
ZnF_C2HC	1448	1464	1.06e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224320

Predicted Effect

probably damaging
Transcript: ENSMUST00000224480
AA Change: Y806S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225607

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Zcchc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Zcchc6	APN	13	59816698	missense	probably damaging	1.00
IGL01361:Zcchc6	APN	13	59785800	missense	probably damaging	1.00
IGL02002:Zcchc6	APN	13	59782096	missense	possibly damaging	0.76
IGL02015:Zcchc6	APN	13	59789258	missense	probably damaging	1.00
IGL02029:Zcchc6	APN	13	59784888	unclassified	probably benign
IGL02216:Zcchc6	APN	13	59800423	missense	probably benign	0.01
IGL02705:Zcchc6	APN	13	59789203	missense	probably damaging	1.00
IGL02742:Zcchc6	APN	13	59816342	missense	probably damaging	0.99
IGL02810:Zcchc6	APN	13	59782016	critical splice donor site	probably null
IGL02942:Zcchc6	APN	13	59811521	missense	probably damaging	0.98
IGL03104:Zcchc6	APN	13	59814903	missense	probably benign	0.04
R0025:Zcchc6	UTSW	13	59805328	missense	probably benign	0.08
R0025:Zcchc6	UTSW	13	59805328	missense	probably benign	0.08
R0153:Zcchc6	UTSW	13	59782336	nonsense	probably null
R0269:Zcchc6	UTSW	13	59816855	splice site	probably null
R0358:Zcchc6	UTSW	13	59782104	missense	probably damaging	0.99
R0555:Zcchc6	UTSW	13	59800317	missense	probably benign	0.00
R0599:Zcchc6	UTSW	13	59809487	missense	probably damaging	1.00
R0609:Zcchc6	UTSW	13	59799782	nonsense	probably null
R0617:Zcchc6	UTSW	13	59816855	splice site	probably null
R0680:Zcchc6	UTSW	13	59800599	missense	possibly damaging	0.79
R0699:Zcchc6	UTSW	13	59782014	splice site	probably benign
R1214:Zcchc6	UTSW	13	59805326	missense	possibly damaging	0.76
R1271:Zcchc6	UTSW	13	59821855	missense	probably damaging	0.99
R1556:Zcchc6	UTSW	13	59800240	missense	probably benign	0.02
R1662:Zcchc6	UTSW	13	59799903	missense	possibly damaging	0.93
R1777:Zcchc6	UTSW	13	59791821	missense	probably damaging	1.00
R1834:Zcchc6	UTSW	13	59814935	nonsense	probably null
R1928:Zcchc6	UTSW	13	59816734	missense	probably damaging	1.00
R2012:Zcchc6	UTSW	13	59811538	missense	probably damaging	0.99
R2045:Zcchc6	UTSW	13	59800656	missense	probably damaging	1.00
R2336:Zcchc6	UTSW	13	59799054	missense	probably damaging	1.00
R3764:Zcchc6	UTSW	13	59800380	missense	probably damaging	0.98
R3899:Zcchc6	UTSW	13	59789255	nonsense	probably null
R3918:Zcchc6	UTSW	13	59782024	missense	probably damaging	1.00
R4423:Zcchc6	UTSW	13	59822049	missense	probably damaging	0.96
R4664:Zcchc6	UTSW	13	59800599	missense	possibly damaging	0.79
R4673:Zcchc6	UTSW	13	59796845	missense	probably damaging	1.00
R4770:Zcchc6	UTSW	13	59772884	unclassified	probably benign
R4884:Zcchc6	UTSW	13	59789452	missense	probably damaging	1.00
R5186:Zcchc6	UTSW	13	59816656	critical splice donor site	probably null
R5337:Zcchc6	UTSW	13	59791852	missense	probably damaging	1.00
R5385:Zcchc6	UTSW	13	59789846	critical splice donor site	probably null
R5452:Zcchc6	UTSW	13	59800657	missense	probably damaging	1.00
R5534:Zcchc6	UTSW	13	59788553	missense	probably damaging	1.00
R5566:Zcchc6	UTSW	13	59788629	nonsense	probably null
R5928:Zcchc6	UTSW	13	59822066	missense	probably benign	0.16
R6415:Zcchc6	UTSW	13	59816296	splice site	probably null
R6495:Zcchc6	UTSW	13	59799939	missense	possibly damaging	0.95
R6577:Zcchc6	UTSW	13	59808161	missense	probably damaging	1.00
R7205:Zcchc6	UTSW	13	59788550	missense	probably damaging	1.00
R7286:Zcchc6	UTSW	13	59821649	missense	probably benign	0.18
R7355:Zcchc6	UTSW	13	59821802	missense	probably benign	0.00
R7369:Zcchc6	UTSW	13	59782053	missense	possibly damaging	0.71
R7455:Zcchc6	UTSW	13	59822057	missense	probably benign	0.03
R7557:Zcchc6	UTSW	13	59788466	missense	possibly damaging	0.89
R7635:Zcchc6	UTSW	13	59800090	missense	probably benign	0.03
R7727:Zcchc6	UTSW	13	59799682	missense	probably benign	0.00
R7798:Zcchc6	UTSW	13	59815575	missense	possibly damaging	0.81
R7912:Zcchc6	UTSW	13	59799005	missense	probably damaging	1.00
R7915:Zcchc6	UTSW	13	59784814	missense	probably benign	0.12
R8035:Zcchc6	UTSW	13	59789190	missense	probably benign	0.00
R8531:Zcchc6	UTSW	13	59789260	missense	probably damaging	1.00
R8777:Zcchc6	UTSW	13	59785783	missense	probably benign	0.15
R8777-TAIL:Zcchc6	UTSW	13	59785783	missense	probably benign	0.15
R8850:Zcchc6	UTSW	13	59789197	missense	possibly damaging	0.83
R8929:Zcchc6	UTSW	13	59800128	missense	probably benign
R9254:Zcchc6	UTSW	13	59788474	missense	possibly damaging	0.48
R9313:Zcchc6	UTSW	13	59799984	missense	probably benign	0.01
R9373:Zcchc6	UTSW	13	59796867	missense	probably damaging	1.00
R9379:Zcchc6	UTSW	13	59788474	missense	possibly damaging	0.48
R9404:Zcchc6	UTSW	13	59799887	missense	probably benign	0.00
R9461:Zcchc6	UTSW	13	59815698	missense	probably damaging	1.00
R9462:Zcchc6	UTSW	13	59782143	missense	possibly damaging	0.89
R9661:Zcchc6	UTSW	13	59789518	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTACTAACTACCAAGAACCAGCTG -3'
(R):5'- ATGGTCTAAGCCAGCCTCTG -3'

Sequencing Primer
(F):5'- TGGTACAGCGCCTGGAACAC -3'
(R):5'- CTGCTTCTGCTAATATGTTATTGGTC -3'

Posted On

2017-06-26