Mutagenetix > Incidental Mutation

Incidental Mutation 'R7781:Zcchc2'

599210

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

045837-MU

Accession Numbers

Essential gene?

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

Stock #

R7781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105918136-105961804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105931895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 366 (Y366H)

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: Y366H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866
AA Change: Y366H

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: Y366H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866
AA Change: Y366H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700064H15Rik	G	A	3: 19,682,706 (GRCm39)	P23S	unknown	Het
Abcc6	C	T	7: 45,655,030 (GRCm39)	R487Q	probably damaging	Het
Abl1	A	T	2: 31,680,709 (GRCm39)	T334S	probably damaging	Het
Adam6b	T	C	12: 113,454,962 (GRCm39)	F593S	probably damaging	Het
Alx1	A	T	10: 102,845,053 (GRCm39)	M326K	probably damaging	Het
Ankhd1	A	T	18: 36,758,258 (GRCm39)	D984V	probably damaging	Het
Asb15	A	G	6: 24,562,644 (GRCm39)	N202S	probably benign	Het
Ate1	A	T	7: 130,121,157 (GRCm39)	V12E	probably damaging	Het
Atl2	A	T	17: 80,167,260 (GRCm39)	Y254N	probably damaging	Het
Atp13a5	A	G	16: 29,116,226 (GRCm39)	M630T	probably benign	Het
Atp5po	A	T	16: 91,723,417 (GRCm39)	I124N	possibly damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bicdl1	T	C	5: 115,799,546 (GRCm39)	E181G	probably damaging	Het
Bnipl	C	A	3: 95,151,486 (GRCm39)	W272L	probably damaging	Het
Catsperd	A	T	17: 56,971,072 (GRCm39)	H712L	probably benign	Het
Cilp2	T	C	8: 70,334,997 (GRCm39)	D667G	possibly damaging	Het
Cntn4	A	C	6: 106,500,575 (GRCm39)	K351Q	probably damaging	Het
Coq7	A	T	7: 118,125,111 (GRCm39)	I171N	probably damaging	Het
Csf2rb	T	A	15: 78,228,771 (GRCm39)	F371I	probably benign	Het
Cyp3a13	C	T	5: 137,897,136 (GRCm39)	V393M	possibly damaging	Het
Dennd2a	A	G	6: 39,470,000 (GRCm39)	V564A	probably damaging	Het
Ear14	T	C	14: 51,441,468 (GRCm39)	L108P	probably damaging	Het
Egflam	C	A	15: 7,283,227 (GRCm39)	V277F	probably null	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Faap100	T	C	11: 120,265,089 (GRCm39)	M596V	probably benign	Het
Fbxw15	T	A	9: 109,386,330 (GRCm39)	T270S	possibly damaging	Het
Gabpb1	C	T	2: 126,481,120 (GRCm39)	C342Y	possibly damaging	Het
Gls	A	T	1: 52,251,492 (GRCm39)	C288*	probably null	Het
Grm8	G	T	6: 27,285,786 (GRCm39)	D875E	probably benign	Het
Hdac4	C	A	1: 91,903,387 (GRCm39)	R514L	probably benign	Het
Hps4	T	A	5: 112,518,388 (GRCm39)	N460K	probably benign	Het
Inpp5d	T	C	1: 87,627,394 (GRCm39)	F565S	probably damaging	Het
Kcnh5	C	A	12: 75,023,455 (GRCm39)	V538F	probably damaging	Het
Kcp	T	C	6: 29,497,764 (GRCm39)	N499S	probably damaging	Het
Klk15	T	C	7: 43,588,980 (GRCm39)	L244S	probably benign	Het
Lamp3	A	T	16: 19,518,440 (GRCm39)	S266T	possibly damaging	Het
Lemd3	A	G	10: 120,761,678 (GRCm39)	F863L	probably damaging	Het
Mga	T	A	2: 119,747,838 (GRCm39)	V663D	probably damaging	Het
Naa15	A	G	3: 51,378,904 (GRCm39)		probably null	Het
Ndrg3	C	A	2: 156,770,733 (GRCm39)	G352*	probably null	Het
Nr2f6	G	T	8: 71,828,595 (GRCm39)	N233K	possibly damaging	Het
Or4a79	A	G	2: 89,551,879 (GRCm39)	F192S	probably benign	Het
Plxnb2	T	A	15: 89,041,225 (GRCm39)	M1774L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rpl23a	G	A	11: 78,073,654 (GRCm39)	R62W	probably benign	Het
Rubcnl	A	G	14: 75,269,530 (GRCm39)	R63G	probably damaging	Het
Ryr1	T	C	7: 28,767,055 (GRCm39)	D2976G	probably damaging	Het
Siglec1	A	G	2: 130,923,258 (GRCm39)	Y496H	probably damaging	Het
Sipa1l2	A	G	8: 126,218,566 (GRCm39)	V257A	possibly damaging	Het
Slc24a4	T	C	12: 102,201,112 (GRCm39)		probably null	Het
Slc4a1ap	T	C	5: 31,684,822 (GRCm39)	S153P	probably damaging	Het
Slc4a4	A	T	5: 89,376,791 (GRCm39)	E1006V	possibly damaging	Het
Svep1	T	G	4: 58,069,251 (GRCm39)	E2845A	possibly damaging	Het
Tlr1	T	C	5: 65,084,079 (GRCm39)	N166S	possibly damaging	Het
Tmem231	C	T	8: 112,644,922 (GRCm39)		probably null	Het
Tsc2	C	A	17: 24,827,089 (GRCm39)	L873F	possibly damaging	Het
Unc13b	T	G	4: 43,259,546 (GRCm39)	S1403A	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,553 (GRCm39)	F236L	probably benign	Het
Vmn2r111	T	C	17: 22,789,714 (GRCm39)	S431G	probably benign	Het
Wdr7	A	T	18: 63,910,860 (GRCm39)	K751*	probably null	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp607a	C	T	7: 27,565,000 (GRCm39)	R56C	possibly 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
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
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
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'- AAACATTCACTTGTGGTTGAGG -3'
(R):5'- ATCGTTTCCCCAAGCTCAGG -3'

Sequencing Primer
(F):5'- TCATGAGTTAAGGCCAGTCATAAAG -3'
(R):5'- ATGGACCATCTATTATCCACCTAC -3'

Posted On

2019-11-26