Mutagenetix > Incidental Mutation

Incidental Mutation 'R7323:Zc3h6'

568266

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

4631426G04Rik, 4833425H18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R7323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128809322-128860483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128835331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 123 (N123K)

Ref Sequence

ENSEMBL: ENSMUSP00000105948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110319] [ENSMUST00000110320]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000110319
AA Change: N123K

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: N123K

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
coiled coil region	30	71	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110320

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
coiled coil region	30	71	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	177	192	N/A	INTRINSIC
ZnF_C3H1	271	296	1.72e-4	SMART
ZnF_C3H1	300	325	2.51e-6	SMART
ZnF_C3H1	326	349	5.24e0	SMART
coiled coil region	351	383	N/A	INTRINSIC
low complexity region	385	400	N/A	INTRINSIC
low complexity region	493	509	N/A	INTRINSIC
low complexity region	698	707	N/A	INTRINSIC
low complexity region	784	798	N/A	INTRINSIC
low complexity region	815	829	N/A	INTRINSIC
low complexity region	876	890	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	C	A	5: 100,126,945 (GRCm39)	A9E	unknown	Het
6030452D12Rik	A	T	8: 107,227,411 (GRCm39)		probably null	Het
Abcb11	C	A	2: 69,117,979 (GRCm39)	Q466H	probably damaging	Het
Adam20	A	G	8: 41,248,421 (GRCm39)	D177G	probably benign	Het
Ampd1	A	T	3: 102,992,696 (GRCm39)	Q150L	probably benign	Het
Angpt2	A	C	8: 18,755,840 (GRCm39)	M209R	probably benign	Het
Aoc2	G	A	11: 101,219,371 (GRCm39)	R598Q	probably damaging	Het
Arap1	A	G	7: 101,049,418 (GRCm39)	D960G	probably damaging	Het
Bhlhe40	G	C	6: 108,642,242 (GRCm39)	L395F	probably benign	Het
Cacna1i	T	C	15: 80,275,854 (GRCm39)	C1882R	possibly damaging	Het
Ccr6	A	G	17: 8,475,611 (GRCm39)	N272S	possibly damaging	Het
Ces1f	A	T	8: 93,998,472 (GRCm39)	W175R	probably damaging	Het
Ces3a	A	C	8: 105,782,239 (GRCm39)	H364P	possibly damaging	Het
Cfap54	T	C	10: 92,637,000 (GRCm39)	M3130V	probably benign	Het
Clca3b	G	A	3: 144,531,681 (GRCm39)	P708S	possibly damaging	Het
Cps1	A	T	1: 67,197,028 (GRCm39)	T360S	probably benign	Het
Cramp1	A	T	17: 25,201,379 (GRCm39)	M701K	possibly damaging	Het
Dnah1	A	G	14: 31,020,664 (GRCm39)	I1235T	probably damaging	Het
Efcab3	T	C	11: 104,920,837 (GRCm39)	L4676P	probably benign	Het
Ergic1	A	G	17: 26,860,644 (GRCm39)	E244G	probably damaging	Het
Fignl2	C	A	15: 100,951,382 (GRCm39)	R300L	unknown	Het
Fry	T	C	5: 150,419,814 (GRCm39)	M628T		Het
Fscn3	A	G	6: 28,431,544 (GRCm39)	T292A	possibly damaging	Het
Fsip2	A	T	2: 82,819,860 (GRCm39)	I5198L	probably benign	Het
Gm4181	T	A	14: 51,869,990 (GRCm39)	R104W	probably damaging	Het
Gnl1	G	A	17: 36,294,305 (GRCm39)	R308H	probably benign	Het
Gtf2h4	G	T	17: 35,980,857 (GRCm39)	L271I	probably damaging	Het
Helq	GTTT	GTT	5: 100,931,051 (GRCm39)		probably null	Het
Hhatl	A	T	9: 121,618,652 (GRCm39)	W117R	probably benign	Het
Hlx	A	G	1: 184,462,993 (GRCm39)	F220L	probably benign	Het
Il31ra	T	C	13: 112,688,497 (GRCm39)	I27V	probably damaging	Het
Itga8	T	G	2: 12,266,940 (GRCm39)	D165A	probably damaging	Het
Krt33a	A	C	11: 99,902,801 (GRCm39)	V341G	probably benign	Het
Lrrc3c	A	G	11: 98,490,266 (GRCm39)	M208V	possibly damaging	Het
Mapk8ip3	A	T	17: 25,120,135 (GRCm39)	S947T	probably benign	Het
Muc5b	A	G	7: 141,412,444 (GRCm39)	I1797V	unknown	Het
Myh2	A	T	11: 67,088,191 (GRCm39)	T1936S	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Or1l8	T	A	2: 36,817,986 (GRCm39)	I47F	probably damaging	Het
Or4c114	A	T	2: 88,904,811 (GRCm39)	I208K	probably damaging	Het
Or4e2	A	G	14: 52,688,670 (GRCm39)	I267V	probably benign	Het
Or5d40	A	G	2: 88,015,952 (GRCm39)	T244A	possibly damaging	Het
Phf3	A	G	1: 30,852,211 (GRCm39)	M1064T	probably benign	Het
Pkd1	A	G	17: 24,794,025 (GRCm39)	E1904G	probably benign	Het
Polrmt	A	G	10: 79,576,483 (GRCm39)	V491A	probably benign	Het
Ppm1j	C	A	3: 104,691,429 (GRCm39)	R306S	probably damaging	Het
Prkd2	T	C	7: 16,581,547 (GRCm39)	F134S	probably benign	Het
Prpf8	C	A	11: 75,382,610 (GRCm39)	Q439K	probably benign	Het
Prss50	A	T	9: 110,692,800 (GRCm39)	I307F	possibly damaging	Het
Rgs20	A	G	1: 4,982,535 (GRCm39)		probably null	Het
Rnf144b	A	G	13: 47,393,258 (GRCm39)	E199G	probably damaging	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc22a26	A	T	19: 7,768,259 (GRCm39)	V233E	probably damaging	Het
Slc27a2	T	G	2: 126,395,124 (GRCm39)	L17R	probably benign	Het
Slc6a17	A	G	3: 107,398,794 (GRCm39)	V269A	probably benign	Het
Srp54c	T	C	12: 55,304,237 (GRCm39)	V395A	probably benign	Het
Sspo	A	T	6: 48,438,581 (GRCm39)	S1550C	possibly damaging	Het
Tet1	A	G	10: 62,715,818 (GRCm39)		probably benign	Het
Themis	A	T	10: 28,609,497 (GRCm39)	H88L	probably benign	Het
Tmem63b	G	A	17: 45,971,773 (GRCm39)	T814M	possibly damaging	Het
Tnc	G	A	4: 63,889,469 (GRCm39)	T1679I	probably damaging	Het
Tnfrsf11a	A	G	1: 105,772,456 (GRCm39)	D581G	probably damaging	Het
Trim30d	A	C	7: 104,132,555 (GRCm39)	V244G	probably benign	Het
Trpv1	T	C	11: 73,151,163 (GRCm39)	S784P	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Ubap2l	A	C	3: 89,922,713 (GRCm39)	V775G	unknown	Het
Vmn2r69	A	C	7: 85,060,972 (GRCm39)	I204R	possibly damaging	Het
Vmn2r72	T	A	7: 85,399,771 (GRCm39)	D426V	probably benign	Het
Vmn2r93	G	A	17: 18,533,497 (GRCm39)	W467*	probably null	Het
Wbp2nl	T	C	15: 82,198,542 (GRCm39)	*360Q	probably null	Het
Xylt1	G	A	7: 117,191,274 (GRCm39)		probably null	Het
Zfp853	T	C	5: 143,275,110 (GRCm39)	Q185R	unknown	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	128,853,795 (GRCm39)	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	128,859,298 (GRCm39)	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128,839,605 (GRCm39)	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128,835,146 (GRCm39)	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	128,858,501 (GRCm39)	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	128,857,531 (GRCm39)	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128,839,715 (GRCm39)	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	128,857,332 (GRCm39)	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	128,856,747 (GRCm39)	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	128,859,143 (GRCm39)	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	128,848,736 (GRCm39)	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	128,859,056 (GRCm39)	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	128,858,989 (GRCm39)	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	128,859,278 (GRCm39)	missense	probably benign
R1712:Zc3h6	UTSW	2	128,858,654 (GRCm39)	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	128,858,540 (GRCm39)	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128,839,715 (GRCm39)	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	128,848,006 (GRCm39)	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	128,857,538 (GRCm39)	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128,809,750 (GRCm39)	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	128,856,629 (GRCm39)	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128,835,122 (GRCm39)	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	128,857,380 (GRCm39)	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	128,844,152 (GRCm39)	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	128,859,251 (GRCm39)	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128,839,712 (GRCm39)	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	128,858,060 (GRCm39)	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	128,844,160 (GRCm39)	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	128,852,353 (GRCm39)	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	128,859,229 (GRCm39)	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	128,856,399 (GRCm39)	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	128,844,076 (GRCm39)	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	128,844,076 (GRCm39)	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128,835,372 (GRCm39)	intron	probably benign
R5802:Zc3h6	UTSW	2	128,857,479 (GRCm39)	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128,835,197 (GRCm39)	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128,839,696 (GRCm39)	splice site	probably null
R5950:Zc3h6	UTSW	2	128,839,710 (GRCm39)	nonsense	probably null
R6031:Zc3h6	UTSW	2	128,809,732 (GRCm39)	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128,809,732 (GRCm39)	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	128,857,341 (GRCm39)	missense	probably damaging	0.99
R7340:Zc3h6	UTSW	2	128,835,110 (GRCm39)	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	128,859,172 (GRCm39)	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	128,856,473 (GRCm39)	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	128,857,555 (GRCm39)	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	128,857,400 (GRCm39)	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	128,858,934 (GRCm39)	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	128,856,319 (GRCm39)	nonsense	probably null
R9076:Zc3h6	UTSW	2	128,859,096 (GRCm39)	nonsense	probably null
R9577:Zc3h6	UTSW	2	128,858,102 (GRCm39)	missense
R9687:Zc3h6	UTSW	2	128,859,281 (GRCm39)	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	128,859,155 (GRCm39)	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	128,858,141 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGAACCAGCTCCTACAGGG -3'
(R):5'- TGAATGCCCTTGGACACTCC -3'

Sequencing Primer
(F):5'- CCAGCTCCTACAGGGATTATGATG -3'
(R):5'- TCTATGGAAAACAGCCTGGAGTTCC -3'

Posted On

2019-06-26