Mutagenetix > Incidental Mutation

Incidental Mutation 'P0042:Zcchc2'

7824

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

038290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

P0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105918136-105961804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105958727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1066 (T1066I)

Ref Sequence

ENSEMBL: ENSMUSP00000113128 (fasta)

Gene Model

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

AlphaFold

Q69ZB8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118196
AA Change: T1066I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: T1066I

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

possibly damaging
Transcript: ENSMUST00000119166
AA Change: T1066I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: T1066I

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

unknown
Transcript: ENSMUST00000186983
AA Change: T668I

Predicted Effect

probably benign
Transcript: ENSMUST00000188954

Meta Mutation Damage Score

0.2095

Coding Region Coverage

1x: 81.5%
3x: 74.4%
10x: 52.2%
20x: 29.5%

Validation Efficiency

88% (87/99)

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	G	1: 90,142,600 (GRCm39)	E353G	probably damaging	Het
Cercam	T	A	2: 29,771,095 (GRCm39)	D497E	probably damaging	Het
Eif5a	A	T	11: 69,808,728 (GRCm39)		probably benign	Het
Htr4	T	A	18: 62,546,748 (GRCm39)	D100E	probably damaging	Het
Ift172	T	C	5: 31,418,799 (GRCm39)	K1172E	probably benign	Het
Inpp5b	G	A	4: 124,691,703 (GRCm39)		probably null	Het
Klc2	A	G	19: 5,163,805 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,225,817 (GRCm39)	L332M	probably benign	Het
Naca	T	C	10: 127,877,422 (GRCm39)		probably benign	Het
Oat	A	G	7: 132,164,374 (GRCm39)	V238A	possibly damaging	Het
Rabep1	A	G	11: 70,775,801 (GRCm39)		probably benign	Het
Snx13	A	G	12: 35,157,541 (GRCm39)	D529G	probably damaging	Het
Urod	T	A	4: 116,850,143 (GRCm39)	L23F	probably damaging	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
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
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

Posted On

2012-10-29