Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Zcchc2'

218710

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

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

Stock #

R0689 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105918136-105961804 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 105958234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 504 (Q504*)

Gene Model

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

AlphaFold

Q69ZB8

Predicted Effect

probably null
Transcript: ENSMUST00000118196
AA Change: Q902*

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: Q902*

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 null
Transcript: ENSMUST00000119166
AA Change: Q902*

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: Q902*

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 null
Transcript: ENSMUST00000186983
AA Change: Q504*

Predicted Effect

probably benign
Transcript: ENSMUST00000188954

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,051,753 (GRCm39)	D400V	probably benign	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnaja2	A	G	8: 86,273,347 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Itgbl1	A	T	14: 124,065,259 (GRCm39)	I61F	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Or4k15c	A	T	14: 50,321,689 (GRCm39)	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Skp1	T	C	11: 52,134,592 (GRCm39)		probably benign	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		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
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
R7089:Zcchc2	UTSW	1	105,958,211 (GRCm39)	missense	probably damaging	1.00
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'- TCCATAACCCAGGTAGTTTCCCAGG -3'
(R):5'- TTCCCCACAGCACTGATGTACGAC -3'

Sequencing Primer
(F):5'- CAGGTAGTTTCCCAGGGTCTC -3'
(R):5'- CACTGATGTACGACGTGCTG -3'

Posted On

2014-08-20