Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Zc2hc1c'

528767

Institutional Source

Beutler Lab

Gene Symbol

Zc2hc1c

Ensembl Gene

ENSMUSG00000045064

Gene Name

zinc finger, C2HC-type containing 1C

Synonyms

2810002I04Rik, Fam164c

MMRRC Submission

044819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85321060-85346132 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 85336446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059341] [ENSMUST00000121930]

AlphaFold

Q8CCG1

Predicted Effect

probably null
Transcript: ENSMUST00000059341
AA Change: Y34*

SMART Domains

Protein: ENSMUSP00000051664
Gene: ENSMUSG00000045064
AA Change: Y34*

Domain	Start	End	E-Value	Type
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	207	254	N/A	INTRINSIC
Pfam:zf-C2HC_2	378	402	3.6e-10	PFAM
low complexity region	433	444	N/A	INTRINSIC
Pfam:zf-C2HC_2	489	513	3.1e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121930

SMART Domains

Protein: ENSMUSP00000112609
Gene: ENSMUSG00000008822

Domain	Start	End	E-Value	Type
Pfam:Acylphosphatase	64	156	4.5e-25	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Ddx21	T	C	10: 62,426,470 (GRCm39)	Y461C	probably damaging	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Hsd17b1	C	A	11: 100,970,981 (GRCm39)	C312*	probably null	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5g9	A	G	2: 85,552,675 (GRCm39)	K309E	probably benign	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,669,751 (GRCm39)	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,159,274 (GRCm39)	L327P	probably damaging	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	probably benign	Het

Other mutations in Zc2hc1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Zc2hc1c	APN	12	85,336,450 (GRCm39)	missense	probably benign	0.03
IGL02677:Zc2hc1c	APN	12	85,336,850 (GRCm39)	missense	probably benign	0.31
R1053:Zc2hc1c	UTSW	12	85,343,330 (GRCm39)	missense	probably damaging	1.00
R1696:Zc2hc1c	UTSW	12	85,337,555 (GRCm39)	missense	possibly damaging	0.86
R1724:Zc2hc1c	UTSW	12	85,336,586 (GRCm39)	missense	probably benign	0.00
R1905:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R1996:Zc2hc1c	UTSW	12	85,343,434 (GRCm39)	missense	probably benign	0.31
R4463:Zc2hc1c	UTSW	12	85,337,071 (GRCm39)	missense	probably damaging	0.97
R4834:Zc2hc1c	UTSW	12	85,336,982 (GRCm39)	missense	probably damaging	1.00
R5070:Zc2hc1c	UTSW	12	85,337,288 (GRCm39)	missense	probably benign	0.03
R5943:Zc2hc1c	UTSW	12	85,336,483 (GRCm39)	missense	probably damaging	1.00
R6184:Zc2hc1c	UTSW	12	85,343,218 (GRCm39)	missense	probably damaging	0.96
R6704:Zc2hc1c	UTSW	12	85,337,258 (GRCm39)	missense	possibly damaging	0.84
R6719:Zc2hc1c	UTSW	12	85,337,446 (GRCm39)	missense	probably damaging	1.00
R7665:Zc2hc1c	UTSW	12	85,343,336 (GRCm39)	missense	possibly damaging	0.69
R8125:Zc2hc1c	UTSW	12	85,343,386 (GRCm39)	missense	probably damaging	1.00
R8154:Zc2hc1c	UTSW	12	85,336,946 (GRCm39)	missense	probably benign	0.00
R8268:Zc2hc1c	UTSW	12	85,336,595 (GRCm39)	missense	probably benign	0.02
R8356:Zc2hc1c	UTSW	12	85,337,471 (GRCm39)	missense	probably damaging	0.97
R8678:Zc2hc1c	UTSW	12	85,337,084 (GRCm39)	missense	probably benign	0.07
R8875:Zc2hc1c	UTSW	12	85,336,549 (GRCm39)	missense	possibly damaging	0.87
R9056:Zc2hc1c	UTSW	12	85,343,230 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTACTCTAGCAGCCGGGAG -3'
(R):5'- AAACAGACCCTTTCCTTGGCC -3'

Sequencing Primer
(F):5'- GGGAGTGAACCTCAGACAAATTCTTC -3'
(R):5'- CCTGGGCATTGTTCCCTGAG -3'

Posted On

2018-07-24