Mutagenetix > Incidental Mutation

Incidental Mutation 'R6191:Zcchc2'

514468

Institutional Source

Beutler Lab

Gene Symbol

Zcchc2

Ensembl Gene

ENSMUSG00000038866

Gene Name

zinc finger, CCHC domain containing 2

Synonyms

9930114B20Rik

MMRRC Submission

044331-MU

Accession Numbers

Essential gene?

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

Stock #

R6191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105918136-105961804 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 105917900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113128 (fasta)

Gene Model

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

AlphaFold

Q69ZB8

Predicted Effect

probably benign
Transcript: ENSMUST00000118196

SMART Domains

Protein: ENSMUSP00000113974
Gene: ENSMUSG00000038866

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: ENSMUST00000119166

SMART Domains

Protein: ENSMUSP00000113128
Gene: ENSMUSG00000038866

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

noncoding transcript
Transcript: ENSMUST00000185535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188519

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	A	C	9: 55,909,807 (GRCm39)	D144E	possibly damaging	Het
Amigo2	T	A	15: 97,143,419 (GRCm39)	K334N	probably benign	Het
Ano6	T	C	15: 95,846,380 (GRCm39)		probably null	Het
Ap1m2	C	A	9: 21,210,601 (GRCm39)	V343F	probably benign	Het
Apol6	T	C	15: 76,940,098 (GRCm39)	V307A	probably benign	Het
Arsi	C	A	18: 61,045,544 (GRCm39)	A78E	probably damaging	Het
B2m	A	T	2: 121,981,396 (GRCm39)	N37I	possibly damaging	Het
Bltp3b	G	T	10: 89,641,180 (GRCm39)	G784C	possibly damaging	Het
C8a	T	C	4: 104,703,100 (GRCm39)	K363R	probably benign	Het
Ccdc117	C	A	11: 5,484,242 (GRCm39)		probably null	Het
Ccdc154	C	A	17: 25,386,945 (GRCm39)	Q325K	probably damaging	Het
Cd300e	A	T	11: 114,945,359 (GRCm39)	V145E	possibly damaging	Het
Col19a1	G	T	1: 24,356,474 (GRCm39)	P673Q	probably damaging	Het
Csn2	A	G	5: 87,843,885 (GRCm39)		probably null	Het
Ctnna1	T	C	18: 35,307,408 (GRCm39)	V135A	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dnah12	A	G	14: 26,431,412 (GRCm39)	H410R	probably benign	Het
Dock2	C	T	11: 34,181,652 (GRCm39)	R1637H	possibly damaging	Het
Dspp	A	G	5: 104,325,214 (GRCm39)	N526D	unknown	Het
Frem2	T	C	3: 53,562,701 (GRCm39)	H602R	probably benign	Het
Galc	A	T	12: 98,218,293 (GRCm39)	H186Q	probably damaging	Het
Grina	T	C	15: 76,133,218 (GRCm39)	V262A	probably damaging	Het
Gse1	G	A	8: 121,280,542 (GRCm39)		probably null	Het
H2-Oa	C	A	17: 34,312,842 (GRCm39)	Q40K	probably damaging	Het
Hfm1	C	A	5: 107,034,419 (GRCm39)	D763Y	possibly damaging	Het
Hmcn2	T	A	2: 31,348,758 (GRCm39)	Y4925N	probably damaging	Het
Hs3st3b1	C	A	11: 63,780,029 (GRCm39)	R366L	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Iqank1	T	C	15: 75,918,218 (GRCm39)		probably null	Het
Itpr2	A	G	6: 146,229,833 (GRCm39)	V1221A	probably benign	Het
Kdm6b	T	C	11: 69,297,584 (GRCm39)	N285S	probably benign	Het
Klk1b1	T	A	7: 43,620,081 (GRCm39)	N181K	probably damaging	Het
Kmt2a	C	A	9: 44,738,125 (GRCm39)		probably benign	Het
Lama5	T	C	2: 179,827,752 (GRCm39)	D2170G	probably damaging	Het
Lama5	T	A	2: 179,822,404 (GRCm39)	T2890S	probably damaging	Het
Lsm2	T	A	17: 35,201,131 (GRCm39)		probably benign	Het
Map3k5	G	T	10: 19,899,415 (GRCm39)	C232F	probably damaging	Het
Mapk9	T	G	11: 49,754,383 (GRCm39)	D45E	probably damaging	Het
Mpnd	T	C	17: 56,319,482 (GRCm39)	V315A	possibly damaging	Het
Msh2	A	G	17: 88,030,900 (GRCm39)	I926V	probably benign	Het
Mtcl1	C	T	17: 66,650,521 (GRCm39)	R1345H	probably damaging	Het
Nbeal2	A	G	9: 110,457,058 (GRCm39)		probably null	Het
Neo1	T	C	9: 58,796,312 (GRCm39)	D1205G	probably damaging	Het
Nhlrc2	A	G	19: 56,559,291 (GRCm39)	S259G	probably benign	Het
Nkain4	G	A	2: 180,577,796 (GRCm39)	P186L	probably damaging	Het
Nkain4	G	A	2: 180,577,797 (GRCm39)	P186S	probably damaging	Het
Nlrp1b	T	A	11: 71,109,283 (GRCm39)	R73*	probably null	Het
Nr5a2	T	C	1: 136,818,536 (GRCm39)	D330G	probably damaging	Het
Nup54	A	G	5: 92,572,153 (GRCm39)	L299P	probably damaging	Het
Or2v1	T	C	11: 49,025,877 (GRCm39)	L286P	probably damaging	Het
Or5aq7	A	G	2: 86,938,296 (GRCm39)	V145A	probably damaging	Het
Pcdhb8	T	A	18: 37,489,279 (GRCm39)	V319E	probably benign	Het
Pcsk6	T	A	7: 65,578,875 (GRCm39)	D129E	probably benign	Het
Pld5	G	A	1: 175,798,100 (GRCm39)	T433I	probably benign	Het
Plin1	A	T	7: 79,371,347 (GRCm39)	L459H	probably benign	Het
Psd4	T	C	2: 24,284,499 (GRCm39)	V121A	probably damaging	Het
Pxdn	A	T	12: 30,032,716 (GRCm39)	I167F	possibly damaging	Het
R3hdm2	T	C	10: 127,320,384 (GRCm39)	S569P	probably damaging	Het
Rfng	T	A	11: 120,673,516 (GRCm39)	T202S	probably damaging	Het
Robo1	T	C	16: 72,730,696 (GRCm39)	S266P	probably benign	Het
Sema3c	G	T	5: 17,858,804 (GRCm39)	V68L	probably damaging	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Slfn8	A	G	11: 82,907,626 (GRCm39)	Y306H	possibly damaging	Het
Snap91	T	C	9: 86,720,105 (GRCm39)	D144G	probably damaging	Het
St7l	T	G	3: 104,775,349 (GRCm39)	F75C	probably damaging	Het
Stard10	A	G	7: 100,992,468 (GRCm39)	I145V	probably damaging	Het
Tekt3	C	T	11: 62,968,999 (GRCm39)	A242V	probably damaging	Het
Tex44	A	G	1: 86,354,306 (GRCm39)		probably benign	Het
Thg1l	T	C	11: 45,844,988 (GRCm39)	Q88R	probably benign	Het
Trav8n-2	T	A	14: 53,583,744 (GRCm39)	I67N	probably damaging	Het
Ttn	G	A	2: 76,677,770 (GRCm39)		probably benign	Het
Ube4a	A	T	9: 44,861,051 (GRCm39)	L253*	probably null	Het
Uggt1	A	T	1: 36,201,289 (GRCm39)	N1150K	probably damaging	Het
Ush2a	T	A	1: 187,995,298 (GRCm39)	L23*	probably null	Het
Usp22	T	A	11: 61,065,602 (GRCm39)	N37I	probably benign	Het
Usp53	T	A	3: 122,743,390 (GRCm39)	K515N	probably damaging	Het
Vmn2r4	T	C	3: 64,322,702 (GRCm39)	K6E	probably benign	Het
Vps13d	C	T	4: 144,875,918 (GRCm39)	V1530M	probably damaging	Het
Vwa3b	A	G	1: 37,153,612 (GRCm39)	I485V	possibly damaging	Het
Wnk4	T	C	11: 101,155,156 (GRCm39)	Y356H	probably damaging	Het
Zfp345	A	C	2: 150,315,010 (GRCm39)	Y176D	probably benign	Het
Zfp598	T	C	17: 24,896,850 (GRCm39)	F238S	possibly damaging	Het
Zkscan17	T	C	11: 59,393,820 (GRCm39)	D10G	probably damaging	Het
Zmat4	T	G	8: 24,392,083 (GRCm39)	M13R	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
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
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'- AATATGGTAATCTCCCGTGGC -3'
(R):5'- AGCCAATCAACGTTTAGATCTGG -3'

Sequencing Primer
(F):5'- AATCTCCCGTGGCTGACTTTGG -3'
(R):5'- CAATCAACGTTTAGATCTGGCGTGAC -3'

Posted On

2018-05-02