Mutagenetix > Incidental Mutation

Incidental Mutation 'R7089:Zcchc2'

550056

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

045183-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R7089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105918136-105961804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105958211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 894 (P894Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113128 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118196] [ENSMUST00000119166]

AlphaFold

Q69ZB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000118196
AA Change: P894Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: P894Q

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
low complexity region	34	67	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
SCOP:d1gd5a_	347	451	5e-7	SMART
low complexity region	480	491	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	624	634	N/A	INTRINSIC
low complexity region	640	659	N/A	INTRINSIC
low complexity region	777	795	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC
low complexity region	998	1010	N/A	INTRINSIC
low complexity region	1020	1031	N/A	INTRINSIC
ZnF_C2HC	1120	1136	1.12e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119166
AA Change: P894Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: P894Q

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
low complexity region	34	67	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
low complexity region	234	247	N/A	INTRINSIC
SCOP:d1gd5a_	347	451	5e-7	SMART
low complexity region	480	491	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	624	634	N/A	INTRINSIC
low complexity region	640	659	N/A	INTRINSIC
low complexity region	777	795	N/A	INTRINSIC
low complexity region	899	918	N/A	INTRINSIC
low complexity region	998	1010	N/A	INTRINSIC
low complexity region	1020	1031	N/A	INTRINSIC
ZnF_C2HC	1120	1136	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188954

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,927 (GRCm39)	V494A	probably benign	Het
1700017B05Rik	A	T	9: 57,166,041 (GRCm39)	L111Q	probably damaging	Het
Adgrf4	T	G	17: 42,977,424 (GRCm39)	I640L	possibly damaging	Het
Afdn	T	G	17: 14,111,074 (GRCm39)		probably null	Het
Ammecr1l	A	T	18: 31,894,877 (GRCm39)		probably benign	Het
Aox1	A	T	1: 58,375,808 (GRCm39)	Y879F	probably benign	Het
Arhgap45	G	A	10: 79,862,181 (GRCm39)		probably null	Het
Arpp21	G	T	9: 111,955,514 (GRCm39)	H542N	probably benign	Het
Ccdc192	C	T	18: 57,725,059 (GRCm39)	T96I	probably benign	Het
Cdt1	G	A	8: 123,298,719 (GRCm39)	R452Q	probably damaging	Het
Clcn7	C	T	17: 25,372,667 (GRCm39)	H149Y		Het
Clpp	T	G	17: 57,297,421 (GRCm39)	W32G	probably benign	Het
Dnmt1	G	T	9: 20,819,785 (GRCm39)	L1572M	probably damaging	Het
Drd3	G	T	16: 43,627,741 (GRCm39)	R128S	probably damaging	Het
Elmo2	A	T	2: 165,146,849 (GRCm39)	F243I	possibly damaging	Het
Endou	G	A	15: 97,618,126 (GRCm39)	P128L	probably benign	Het
Fat3	A	G	9: 15,908,214 (GRCm39)	M2596T	probably benign	Het
Fbxl16	A	G	17: 26,035,703 (GRCm39)	K100R	probably benign	Het
Fbxo10	A	G	4: 45,062,230 (GRCm39)	S99P	possibly damaging	Het
Fez1	A	T	9: 36,778,999 (GRCm39)	R225S	probably benign	Het
Gm14326	A	T	2: 177,588,464 (GRCm39)	H177Q	probably damaging	Het
Gm32742	T	A	9: 51,054,546 (GRCm39)	M1360L	probably benign	Het
Hspg2	T	C	4: 137,271,677 (GRCm39)	V2481A	possibly damaging	Het
Ifnl3	A	G	7: 28,223,283 (GRCm39)	K101E	probably benign	Het
Il15	A	T	8: 83,064,204 (GRCm39)	S77R	probably damaging	Het
Ints13	T	C	6: 146,476,216 (GRCm39)	D95G	probably damaging	Het
Kcmf1	G	A	6: 72,819,929 (GRCm39)	P357S	probably benign	Het
Kcmf1	G	T	6: 72,825,289 (GRCm39)	T268K	probably benign	Het
Kmt2d	A	T	15: 98,748,153 (GRCm39)	I3057N	unknown	Het
Lgi2	A	G	5: 52,695,832 (GRCm39)	F376L	probably damaging	Het
Lrig3	T	G	10: 125,832,993 (GRCm39)	L289R	probably damaging	Het
Mafk	A	G	5: 139,785,876 (GRCm39)	S25G	probably benign	Het
Mpz	T	C	1: 170,987,204 (GRCm39)		probably null	Het
Nalcn	A	C	14: 123,515,761 (GRCm39)	I1680R	probably benign	Het
Or13d1	C	T	4: 52,971,470 (GRCm39)	P283L	probably damaging	Het
Or5ak24	T	A	2: 85,260,902 (GRCm39)	K90N	probably benign	Het
Or5g26	C	T	2: 85,494,518 (GRCm39)	V87M	possibly damaging	Het
Or5p62	A	T	7: 107,771,701 (GRCm39)	N83K	probably benign	Het
Otof	A	C	5: 30,528,912 (GRCm39)	I1827S	possibly damaging	Het
Oxgr1	A	G	14: 120,259,614 (GRCm39)	Y198H	probably damaging	Het
P3h2	T	A	16: 25,784,559 (GRCm39)	N645I	probably damaging	Het
Pbld2	A	G	10: 62,889,691 (GRCm39)	T158A	probably benign	Het
Pdgfrb	C	T	18: 61,206,315 (GRCm39)	R608C	probably damaging	Het
Pdia5	T	C	16: 35,228,049 (GRCm39)	T408A	probably benign	Het
Pik3cg	A	G	12: 32,226,845 (GRCm39)	V1014A	probably benign	Het
Prpf8	A	G	11: 75,399,374 (GRCm39)	T2180A	probably damaging	Het
Rabgap1l	A	T	1: 160,551,742 (GRCm39)	Y245*	probably null	Het
Rerg	T	C	6: 137,044,033 (GRCm39)	T28A	possibly damaging	Het
Rhcg	A	G	7: 79,249,216 (GRCm39)	I335T	probably damaging	Het
Rmnd1	C	T	10: 4,353,873 (GRCm39)	V78I	probably damaging	Het
Ryr2	A	C	13: 11,664,662 (GRCm39)	V3547G	probably benign	Het
Scnn1a	C	A	6: 125,314,770 (GRCm39)	Q324K	probably benign	Het
Serpinb6e	G	A	13: 34,016,698 (GRCm39)	T345I	probably damaging	Het
Smchd1	T	C	17: 71,668,955 (GRCm39)	T1687A	probably benign	Het
Smim45	A	T	15: 82,136,774 (GRCm39)		probably benign	Het
Speer4f2	A	C	5: 17,581,661 (GRCm39)	H201P		Het
Spef2	G	A	15: 9,725,257 (GRCm39)	R167C	probably damaging	Het
Srp68	A	G	11: 116,162,733 (GRCm39)		probably null	Het
Tbc1d14	A	T	5: 36,669,884 (GRCm39)	F455I	probably benign	Het
Tet3	A	G	6: 83,432,006 (GRCm39)	V10A	possibly damaging	Het
Tlr3	A	T	8: 45,850,810 (GRCm39)	S696T	probably benign	Het
Tmem63b	T	C	17: 45,978,709 (GRCm39)	N300S	probably benign	Het
Tmprss11g	T	C	5: 86,637,150 (GRCm39)	I328M	probably damaging	Het
Tpm3	C	T	3: 89,980,029 (GRCm39)		probably benign	Het
Trim28	T	A	7: 12,758,833 (GRCm39)	L63Q	probably damaging	Het
Unc5b	G	A	10: 60,613,265 (GRCm39)	R324C	probably damaging	Het
Vmn1r236	T	A	17: 21,507,204 (GRCm39)	N107K	possibly damaging	Het
Vmn2r88	A	G	14: 51,656,100 (GRCm39)	T770A		Het
Zfhx2	A	G	14: 55,303,229 (GRCm39)	V1585A	probably benign	Het

Other mutations in Zcchc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Zcchc2	APN	1	105,957,993 (GRCm39)	missense	probably benign	0.25
IGL01339:Zcchc2	APN	1	105,957,505 (GRCm39)	missense	probably damaging	1.00
IGL01981:Zcchc2	APN	1	105,955,229 (GRCm39)	missense	probably damaging	1.00
IGL02172:Zcchc2	APN	1	105,928,664 (GRCm39)	missense	probably benign	0.00
IGL02864:Zcchc2	APN	1	105,943,814 (GRCm39)	missense	probably damaging	1.00
IGL02993:Zcchc2	APN	1	105,957,898 (GRCm39)	missense	probably damaging	0.99
IGL03163:Zcchc2	APN	1	105,958,841 (GRCm39)	missense	probably damaging	1.00
P0042:Zcchc2	UTSW	1	105,958,727 (GRCm39)	missense	possibly damaging	0.95
R0200:Zcchc2	UTSW	1	105,931,853 (GRCm39)	missense	probably damaging	1.00
R0477:Zcchc2	UTSW	1	105,958,000 (GRCm39)	missense	possibly damaging	0.91
R0501:Zcchc2	UTSW	1	105,943,821 (GRCm39)	missense	possibly damaging	0.88
R0689:Zcchc2	UTSW	1	105,958,234 (GRCm39)	nonsense	probably null
R1799:Zcchc2	UTSW	1	105,958,017 (GRCm39)	missense	probably benign	0.00
R2016:Zcchc2	UTSW	1	105,931,851 (GRCm39)	splice site	probably null
R2153:Zcchc2	UTSW	1	105,949,453 (GRCm39)	splice site	probably null
R2175:Zcchc2	UTSW	1	105,955,153 (GRCm39)	missense	probably damaging	1.00
R2999:Zcchc2	UTSW	1	105,957,754 (GRCm39)	missense	probably benign	0.00
R3113:Zcchc2	UTSW	1	105,918,752 (GRCm39)	missense	unknown
R4571:Zcchc2	UTSW	1	105,958,987 (GRCm39)	missense	possibly damaging	0.66
R4670:Zcchc2	UTSW	1	105,917,996 (GRCm39)	unclassified	probably benign
R5067:Zcchc2	UTSW	1	105,958,694 (GRCm39)	missense	probably damaging	1.00
R5423:Zcchc2	UTSW	1	105,958,430 (GRCm39)	missense	probably damaging	1.00
R5499:Zcchc2	UTSW	1	105,958,322 (GRCm39)	missense	possibly damaging	0.71
R5522:Zcchc2	UTSW	1	105,951,426 (GRCm39)	missense	probably benign	0.00
R5526:Zcchc2	UTSW	1	105,957,984 (GRCm39)	nonsense	probably null
R5571:Zcchc2	UTSW	1	105,951,402 (GRCm39)	missense	probably benign
R5599:Zcchc2	UTSW	1	105,959,880 (GRCm39)	missense	probably damaging	1.00
R6133:Zcchc2	UTSW	1	105,947,609 (GRCm39)	missense	probably damaging	1.00
R6191:Zcchc2	UTSW	1	105,917,900 (GRCm39)	unclassified	probably benign
R6194:Zcchc2	UTSW	1	105,918,847 (GRCm39)	missense	probably damaging	1.00
R6246:Zcchc2	UTSW	1	105,957,796 (GRCm39)	missense	possibly damaging	0.75
R7626:Zcchc2	UTSW	1	105,928,742 (GRCm39)	missense	possibly damaging	0.69
R7749:Zcchc2	UTSW	1	105,946,003 (GRCm39)	missense	probably damaging	1.00
R7781:Zcchc2	UTSW	1	105,931,895 (GRCm39)	missense	probably damaging	1.00
R7792:Zcchc2	UTSW	1	105,945,982 (GRCm39)	missense	probably damaging	0.99
R7982:Zcchc2	UTSW	1	105,958,901 (GRCm39)	missense	probably damaging	1.00
R8316:Zcchc2	UTSW	1	105,959,844 (GRCm39)	missense	probably damaging	1.00
R8351:Zcchc2	UTSW	1	105,958,662 (GRCm39)	missense	probably damaging	0.98
R8451:Zcchc2	UTSW	1	105,958,662 (GRCm39)	missense	probably damaging	0.98
R8697:Zcchc2	UTSW	1	105,958,494 (GRCm39)	missense	probably damaging	0.98
R8862:Zcchc2	UTSW	1	105,958,998 (GRCm39)	makesense	probably null
R9133:Zcchc2	UTSW	1	105,958,535 (GRCm39)	missense	probably damaging	1.00
R9421:Zcchc2	UTSW	1	105,950,987 (GRCm39)	missense	probably benign
RF022:Zcchc2	UTSW	1	105,939,472 (GRCm39)	missense	possibly damaging	0.85
Z1176:Zcchc2	UTSW	1	105,918,856 (GRCm39)	missense	probably damaging	1.00
Z1177:Zcchc2	UTSW	1	105,957,555 (GRCm39)	missense	probably damaging	0.98
Z1177:Zcchc2	UTSW	1	105,931,866 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- TGAGCATCGGATCACCAAAC -3'
(R):5'- GCAGTACTGTGTGTCAAGGC -3'

Sequencing Primer
(F):5'- GGATCACCAAACACTGCCTTTATTC -3'
(R):5'- ACTGTGTGTCAAGGCAGGGC -3'

Posted On

2019-05-15