Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Zcchc8'

260600

Institutional Source

Beutler Lab

Gene Symbol

Zcchc8

Ensembl Gene

ENSMUSG00000029427

Gene Name

zinc finger, CCHC domain containing 8

Synonyms

5730565F05Rik

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.327) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123836365-123859107 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123838766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 591 (V591I)

Ref Sequence

ENSEMBL: ENSMUSP00000142363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282]

AlphaFold

Q9CYA6

Predicted Effect

probably benign
Transcript: ENSMUST00000031376
AA Change: V591I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: V591I

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	48	83	N/A	INTRINSIC
ZnF_C2HC	231	247	4.13e-3	SMART
PSP	286	338	3.04e-27	SMART
low complexity region	410	434	N/A	INTRINSIC
low complexity region	464	500	N/A	INTRINSIC
low complexity region	520	527	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196042

Predicted Effect

probably benign
Transcript: ENSMUST00000196282
AA Change: V591I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: V591I

Domain	Start	End	E-Value	Type
low complexity region	33	44	N/A	INTRINSIC
coiled coil region	48	83	N/A	INTRINSIC
ZnF_C2HC	231	247	4.13e-3	SMART
PSP	286	338	3.04e-27	SMART
low complexity region	410	434	N/A	INTRINSIC
low complexity region	464	500	N/A	INTRINSIC
low complexity region	520	527	N/A	INTRINSIC
low complexity region	613	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199875

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Casp1	T	C	9: 5,303,110 (GRCm39)	M188T	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	probably benign	Het

Other mutations in Zcchc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Zcchc8	APN	5	123,842,632 (GRCm39)	missense	probably benign	0.43
IGL01536:Zcchc8	APN	5	123,858,782 (GRCm39)	critical splice donor site	probably null
IGL02083:Zcchc8	APN	5	123,838,981 (GRCm39)	missense	probably damaging	1.00
IGL02838:Zcchc8	APN	5	123,857,546 (GRCm39)	splice site	probably benign
3-1:Zcchc8	UTSW	5	123,847,544 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Zcchc8	UTSW	5	123,838,995 (GRCm39)	missense	probably benign	0.23
R0127:Zcchc8	UTSW	5	123,845,400 (GRCm39)	missense	probably damaging	1.00
R1134:Zcchc8	UTSW	5	123,855,090 (GRCm39)	missense	probably damaging	1.00
R1604:Zcchc8	UTSW	5	123,838,721 (GRCm39)	missense	probably benign	0.00
R1744:Zcchc8	UTSW	5	123,838,436 (GRCm39)	nonsense	probably null
R2216:Zcchc8	UTSW	5	123,845,466 (GRCm39)	missense	probably damaging	1.00
R2303:Zcchc8	UTSW	5	123,838,660 (GRCm39)	missense	probably benign	0.00
R2964:Zcchc8	UTSW	5	123,858,930 (GRCm39)	missense	probably benign	0.00
R2966:Zcchc8	UTSW	5	123,858,930 (GRCm39)	missense	probably benign	0.00
R6831:Zcchc8	UTSW	5	123,838,972 (GRCm39)	missense	probably damaging	1.00
R7908:Zcchc8	UTSW	5	123,858,783 (GRCm39)	critical splice donor site	probably benign
R8738:Zcchc8	UTSW	5	123,841,070 (GRCm39)	missense	probably damaging	0.99
R8791:Zcchc8	UTSW	5	123,845,362 (GRCm39)	missense	probably benign	0.06
R9487:Zcchc8	UTSW	5	123,847,300 (GRCm39)	missense	probably damaging	0.99
R9495:Zcchc8	UTSW	5	123,838,633 (GRCm39)	missense	probably benign	0.00
R9508:Zcchc8	UTSW	5	123,842,584 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATTCAAAGGGTGTTATTCCAGTGG -3'
(R):5'- ATGGATGAGGATGCCCTGAC -3'

Sequencing Primer
(F):5'- CAAACTTGCTCATGTCAGGTAC -3'
(R):5'- ATGCCCTGACGCTGGAG -3'

Posted On

2015-01-23