Mutagenetix > Incidental Mutation

Incidental Mutation 'R9487:Zcchc8'

716655

Institutional Source

Beutler Lab

Gene Symbol

Zcchc8

Ensembl Gene

ENSMUSG00000029427

Gene Name

zinc finger, CCHC domain containing 8

Synonyms

5730565F05Rik

MMRRC Submission

Accession Numbers

Genbank: NM_027494; MGI: 1917900

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R9487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123698294-123721100 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123709237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 213 (I213T)

Ref Sequence

ENSEMBL: ENSMUSP00000031376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031376] [ENSMUST00000196282] [ENSMUST00000200503]

AlphaFold

Q9CYA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000031376
AA Change: I213T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031376
Gene: ENSMUSG00000029427
AA Change: I213T

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: ENSMUST00000196001

Predicted Effect

probably damaging
Transcript: ENSMUST00000196282
AA Change: I213T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142363
Gene: ENSMUSG00000029427
AA Change: I213T

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: ENSMUST00000196333

Predicted Effect

probably benign
Transcript: ENSMUST00000198826

Predicted Effect

probably benign
Transcript: ENSMUST00000200503

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

All alleles(12) : Gene trapped(12)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,182,506	D55N	possibly damaging	Het
Abcc2	G	A	19: 43,818,032	G762S	probably damaging	Het
Acta2	C	A	19: 34,248,465	A110S	probably damaging	Het
Adam26a	T	C	8: 43,569,419	T345A	possibly damaging	Het
Anapc11	T	C	11: 120,605,424	*85R	probably null	Het
Ang2	A	C	14: 51,195,614	C104G	probably damaging	Het
Ankzf1	G	A	1: 75,197,952	V529I	probably benign	Het
Aox4	G	T	1: 58,248,938	V737F	probably benign	Het
Aqr	T	C	2: 114,104,047	N1371S	probably benign	Het
Bach1	T	A	16: 87,729,845	S732T	probably benign	Het
Bcr	T	A	10: 75,131,599	I555N	probably damaging	Het
Bicra	T	C	7: 15,971,792	T1575A	probably damaging	Het
Bop1	A	G	15: 76,453,876	L598P	probably damaging	Het
Cacna1d	A	T	14: 30,123,462	F605L	possibly damaging	Het
Capn15	C	T	17: 25,965,379	V109I	possibly damaging	Het
Cdkn1b	T	C	6: 134,920,852		probably benign	Het
Dnah2	T	C	11: 69,515,791	T542A	possibly damaging	Het
Dsc2	A	T	18: 20,047,219	I159N	probably damaging	Het
Ecel1	A	T	1: 87,147,994	V774E	probably damaging	Het
Eif5b	T	A	1: 38,019,370	L251*	probably null	Het
Eif5b	T	G	1: 38,045,479	C849W	probably damaging	Het
Ext2	T	C	2: 93,762,611	D416G	probably damaging	Het
Fancm	G	A	12: 65,106,614	W1281*	probably null	Het
Flvcr1	A	T	1: 191,011,632	I409K	possibly damaging	Het
Foxk1	T	C	5: 142,451,634		probably null	Het
Frem2	T	A	3: 53,653,484	I1201F	possibly damaging	Het
Gabra5	A	G	7: 57,508,125		probably benign	Het
Gm340	C	A	19: 41,585,246	N813K	probably damaging	Het
Gmpr2	G	A	14: 55,678,321	V319I	probably damaging	Het
Gna12	A	T	5: 140,760,583	L369Q	probably damaging	Het
Gpr160	A	G	3: 30,896,765	R329G	probably benign	Het
H2-M10.3	T	C	17: 36,366,531	H285R	probably benign	Het
H2-M2	A	T	17: 37,482,533	V194E	probably benign	Het
Hephl1	G	A	9: 15,084,534	R431W	possibly damaging	Het
Hr	A	G	14: 70,556,437	T46A	probably benign	Het
Hr	A	G	14: 70,556,765	H126R	possibly damaging	Het
Hsf1	T	G	15: 76,498,198	D256E	probably benign	Het
Ifi208	C	T	1: 173,683,395	T372I	probably damaging	Het
Ifi47	T	G	11: 49,095,793	F129C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,327,310		probably benign	Het
Itga11	A	T	9: 62,762,889	N765I	probably benign	Het
Klhl22	T	A	16: 17,771,799	I108K	probably benign	Het
Lancl1	T	G	1: 67,034,222	H34P	probably benign	Het
Lrmp	A	G	6: 145,174,531	I491V	probably benign	Het
Mbd3l1	G	A	9: 18,484,978	G133D	probably benign	Het
Med12l	T	C	3: 59,247,932	F1178L	probably benign	Het
Mrm1	A	T	11: 84,814,705	N289K	probably damaging	Het
Myf6	A	G	10: 107,494,212	Y165H	probably benign	Het
Myo1g	C	A	11: 6,506,913	C971F	probably benign	Het
Myo3a	T	C	2: 22,241,051	M3T	probably benign	Het
Nsrp1	G	A	11: 77,046,288	R361*	probably null	Het
Olfr1055	T	A	2: 86,347,502	D88V	probably benign	Het
Olfr1241	T	C	2: 89,482,412	H241R	probably damaging	Het
Olfr1250	T	C	2: 89,657,387	D18G	probably damaging	Het
Olfr478	A	T	7: 108,031,956	I129N	possibly damaging	Het
Olfr55	C	A	17: 33,176,574	H57Q	possibly damaging	Het
Olfr890	G	A	9: 38,143,570	C140Y	probably benign	Het
Olfr963	A	C	9: 39,669,315	Q86P	possibly damaging	Het
Oscar	T	G	7: 3,611,664	Y103S	probably damaging	Het
Pdpr	A	G	8: 111,126,293	N610S	probably benign	Het
Ppp4r3b	T	C	11: 29,174,697	I56T	probably damaging	Het
Pxdn	T	A	12: 29,994,553	V510D	possibly damaging	Het
Rab11fip5	T	C	6: 85,347,931	S465G	possibly damaging	Het
Rasgrf2	T	C	13: 92,131,251	T82A	probably benign	Het
Scmh1	G	A	4: 120,463,087	W30*	probably null	Het
Sema4g	T	C	19: 44,992,632	Y40H	probably benign	Het
Serpinf2	A	T	11: 75,432,668	M404K	probably damaging	Het
Sgk3	T	C	1: 9,880,391		probably null	Het
Slc16a5	A	T	11: 115,469,912	Y307F	possibly damaging	Het
Slc39a5	G	A	10: 128,397,759	L290F	probably damaging	Het
Snx32	A	C	19: 5,497,708	D191E	probably damaging	Het
Sp4	T	C	12: 118,299,124	I396V	probably benign	Het
Srrd	A	G	5: 112,342,899	V42A	unknown	Het
Stim1	A	G	7: 102,431,050	H547R	unknown	Het
Svep1	G	A	4: 58,070,517	A2423V	probably benign	Het
Tep1	A	G	14: 50,829,230	S2304P	possibly damaging	Het
Tkt	C	G	14: 30,559,838	S104R	probably benign	Het
Tkt	T	C	14: 30,559,839	S105P	probably damaging	Het
Tln1	A	T	4: 43,542,893	N1365K	probably damaging	Het
Topaz1	G	T	9: 122,775,642	A1104S	probably benign	Het
Trmt2a	A	G	16: 18,250,950	H270R	probably damaging	Het
Ttll10	G	T	4: 156,043,159	T389K	probably benign	Het
Tubal3	A	G	13: 3,930,674	I129V	probably benign	Het
Ucp3	A	G	7: 100,481,916	E192G	probably damaging	Het
Usp47	A	G	7: 112,077,856	D448G	probably damaging	Het
Vmn2r98	T	A	17: 19,081,234	L833M	possibly damaging	Het
Vps13d	A	G	4: 145,081,299		probably null	Het
Wdr7	A	G	18: 63,777,868	D777G	possibly damaging	Het
Zfp281	T	C	1: 136,627,405	I707T	probably damaging	Het
Zfp335	T	C	2: 164,893,475	H1158R	probably damaging	Het
Zfp692	C	T	11: 58,308,939	T118M	probably damaging	Het
Zfr2	T	A	10: 81,240,135	L192Q	probably benign	Het

Other mutations in Zcchc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01341:Zcchc8	APN	5	123704569	missense	probably benign	0.43
IGL01536:Zcchc8	APN	5	123720719	critical splice donor site	probably null
IGL02083:Zcchc8	APN	5	123700918	missense	probably damaging	1.00
IGL02838:Zcchc8	APN	5	123719483	splice site	probably benign
3-1:Zcchc8	UTSW	5	123709481	missense	probably damaging	1.00
PIT4515001:Zcchc8	UTSW	5	123700932	missense	probably benign	0.23
R0127:Zcchc8	UTSW	5	123707337	missense	probably damaging	1.00
R1134:Zcchc8	UTSW	5	123717027	missense	probably damaging	1.00
R1604:Zcchc8	UTSW	5	123700658	missense	probably benign	0.00
R1744:Zcchc8	UTSW	5	123700373	nonsense	probably null
R2216:Zcchc8	UTSW	5	123707403	missense	probably damaging	1.00
R2303:Zcchc8	UTSW	5	123700597	missense	probably benign	0.00
R2877:Zcchc8	UTSW	5	123700703	missense	probably benign	0.05
R2964:Zcchc8	UTSW	5	123720867	missense	probably benign	0.00
R2966:Zcchc8	UTSW	5	123720867	missense	probably benign	0.00
R6831:Zcchc8	UTSW	5	123700909	missense	probably damaging	1.00
R7908:Zcchc8	UTSW	5	123720720	critical splice donor site	probably benign
R8738:Zcchc8	UTSW	5	123703007	missense	probably damaging	0.99
R8791:Zcchc8	UTSW	5	123707299	missense	probably benign	0.06
R9495:Zcchc8	UTSW	5	123700570	missense	probably benign	0.00
R9508:Zcchc8	UTSW	5	123704521	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAATTCCAAGAGACGGATGAC -3'
(R):5'- CCTCAGCTTACGGAAGGATG -3'

Sequencing Primer
(F):5'- CACAATGTCCAGATATCAGGATTC -3'
(R):5'- CTTGCCACTAAGTTCACC -3'

Posted On

2022-07-18