Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Zc3h6'

472367

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

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

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 128997790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 174 (Y174*)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000110319

SMART Domains

Protein: ENSMUSP00000105948
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

Predicted Effect

probably null
Transcript: ENSMUST00000110320
AA Change: Y174*

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: Y174*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	A	17: 28,905,755 (GRCm38)	Q256L	possibly damaging	Het
Abca15	G	A	7: 120,382,656 (GRCm38)	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793 (GRCm38)	Y113N	probably benign	Het
Arid4b	T	A	13: 14,191,264 (GRCm38)		probably benign	Het
Atf6	C	T	1: 170,834,879 (GRCm38)	G271R	probably damaging	Het
Cct8l1	C	A	5: 25,517,743 (GRCm38)	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,855,402 (GRCm38)	E102G	probably damaging	Het
Celsr1	A	T	15: 86,032,500 (GRCm38)	V424E	probably damaging	Het
Ces1h	T	C	8: 93,362,959 (GRCm38)	T271A	probably benign	Het
Cfap44	T	C	16: 44,479,847 (GRCm38)	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,787,769 (GRCm38)	L427F	probably damaging	Het
Crybg3	T	C	16: 59,493,571 (GRCm38)		probably benign	Het
Dis3l2	A	G	1: 87,021,108 (GRCm38)	D589G	probably damaging	Het
Dlg1	A	G	16: 31,665,583 (GRCm38)	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,306,941 (GRCm38)		probably benign	Het
Dpy19l2	T	A	9: 24,581,134 (GRCm38)	T723S	probably benign	Het
Dsg3	A	T	18: 20,538,529 (GRCm38)	N764Y	probably damaging	Het
Dst	G	T	1: 34,262,060 (GRCm38)	R3654L	probably damaging	Het
Evl	C	T	12: 108,675,553 (GRCm38)	T198I	probably benign	Het
Hectd2	A	G	19: 36,597,239 (GRCm38)		probably benign	Het
Hsp90b1	A	G	10: 86,701,745 (GRCm38)	V232A	possibly damaging	Het
Igsf5	T	C	16: 96,372,872 (GRCm38)	V34A	probably benign	Het
Ikzf2	A	T	1: 69,683,244 (GRCm38)	N41K	probably damaging	Het
Kif6	G	T	17: 49,715,088 (GRCm38)	A339S	probably damaging	Het
Klhl1	T	A	14: 96,240,354 (GRCm38)	D426V	probably damaging	Het
Knop1	A	C	7: 118,853,334 (GRCm38)	V54G	probably damaging	Het
Lama4	T	A	10: 39,030,448 (GRCm38)	V270D	probably benign	Het
Lnx2	A	G	5: 147,024,350 (GRCm38)		probably null	Het
Lrp5	A	T	19: 3,602,333 (GRCm38)	V1179E	probably benign	Het
Lrpprc	T	G	17: 84,740,170 (GRCm38)	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,715,310 (GRCm38)		probably benign	Het
Ltbp1	A	T	17: 75,273,870 (GRCm38)	D660V	probably damaging	Het
Macf1	C	G	4: 123,439,436 (GRCm38)		probably null	Het
Map3k21	C	A	8: 125,941,760 (GRCm38)	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,488,419 (GRCm38)	D895E	possibly damaging	Het
Mfsd7a	A	T	5: 108,445,485 (GRCm38)	H162Q	probably damaging	Het
Mink1	T	A	11: 70,609,586 (GRCm38)	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,419,719 (GRCm38)	E108G	probably damaging	Het
Nars	A	G	18: 64,510,485 (GRCm38)	V141A	possibly damaging	Het
Olfr954	T	C	9: 39,462,337 (GRCm38)	V299A	probably benign	Het
Pard3b	T	A	1: 62,216,531 (GRCm38)	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,667,158 (GRCm38)	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,218,520 (GRCm38)	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,152,090 (GRCm38)	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,532,965 (GRCm38)	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,839,126 (GRCm38)	T109A	probably damaging	Het
Rai1	T	A	11: 60,187,593 (GRCm38)	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,738,265 (GRCm38)	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,811,124 (GRCm38)	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,091,287 (GRCm38)	T134S	probably benign	Het
Skint1	A	G	4: 112,019,335 (GRCm38)	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,377,176 (GRCm38)	W54L	probably benign	Het
Soga3	T	C	10: 29,143,648 (GRCm38)		probably benign	Het
Synpo2l	T	A	14: 20,665,935 (GRCm38)	Q191L	probably benign	Het
Tank	A	G	2: 61,653,569 (GRCm38)		probably benign	Het
Tctex1d1	T	G	4: 103,004,250 (GRCm38)	L147R	probably damaging	Het
Terb1	A	T	8: 104,488,485 (GRCm38)		probably null	Het
Trdc	T	C	14: 54,144,311 (GRCm38)		probably benign	Het
Tsen34	A	G	7: 3,694,788 (GRCm38)	I63V	probably null	Het
Ust	T	C	10: 8,248,101 (GRCm38)	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,565,231 (GRCm38)	Q23R	probably benign	Het
Wdr93	A	T	7: 79,773,431 (GRCm38)	H481L	probably damaging	Het
Xirp2	A	G	2: 67,511,320 (GRCm38)	T1302A	possibly damaging	Het
Zcchc7	T	G	4: 44,931,244 (GRCm38)	D144E	possibly damaging	Het
Zfp472	T	A	17: 32,977,507 (GRCm38)	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,202,558 (GRCm38)	P66H	probably benign	Het
Zfp712	A	T	13: 67,044,817 (GRCm38)	L57Q	probably damaging	Het
Zik1	G	A	7: 10,490,571 (GRCm38)	Q200*	probably null	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129,011,875 (GRCm38)	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129,017,378 (GRCm38)	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128,997,685 (GRCm38)	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128,993,226 (GRCm38)	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	129,016,581 (GRCm38)	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	129,015,611 (GRCm38)	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129,015,412 (GRCm38)	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	129,014,827 (GRCm38)	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	129,017,223 (GRCm38)	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129,006,816 (GRCm38)	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129,017,136 (GRCm38)	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129,017,069 (GRCm38)	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129,017,358 (GRCm38)	missense	probably benign
R1712:Zc3h6	UTSW	2	129,016,734 (GRCm38)	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129,016,620 (GRCm38)	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128,997,795 (GRCm38)	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129,006,086 (GRCm38)	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129,015,618 (GRCm38)	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128,967,830 (GRCm38)	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129,014,709 (GRCm38)	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128,993,202 (GRCm38)	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129,015,460 (GRCm38)	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129,002,232 (GRCm38)	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129,017,331 (GRCm38)	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128,997,792 (GRCm38)	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129,016,140 (GRCm38)	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129,002,240 (GRCm38)	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129,010,433 (GRCm38)	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129,017,309 (GRCm38)	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129,014,479 (GRCm38)	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129,002,156 (GRCm38)	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128,993,452 (GRCm38)	intron	probably benign
R5802:Zc3h6	UTSW	2	129,015,559 (GRCm38)	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128,993,277 (GRCm38)	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128,997,776 (GRCm38)	splice site	probably null
R6031:Zc3h6	UTSW	2	128,967,812 (GRCm38)	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128,967,812 (GRCm38)	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129,015,421 (GRCm38)	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128,993,411 (GRCm38)	missense	unknown
R7340:Zc3h6	UTSW	2	128,993,190 (GRCm38)	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129,017,252 (GRCm38)	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	129,014,553 (GRCm38)	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	129,015,635 (GRCm38)	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129,015,480 (GRCm38)	missense	possibly damaging	0.52
R8048:Zc3h6	UTSW	2	129,017,014 (GRCm38)	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129,014,399 (GRCm38)	nonsense	probably null
R9076:Zc3h6	UTSW	2	129,017,176 (GRCm38)	nonsense	probably null
R9577:Zc3h6	UTSW	2	129,016,182 (GRCm38)	missense
R9687:Zc3h6	UTSW	2	129,017,361 (GRCm38)	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129,017,235 (GRCm38)	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129,016,221 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCCCTAGCATAGACGTATATCAG -3'
(R):5'- GGTCTACACGGTACAGAAACATG -3'

Sequencing Primer
(F):5'- GACGTATATCAGGAAGTTACATGAC -3'
(R):5'- GAAGCCACAAGAATGAGCTAATTTTG -3'

Posted On

2017-03-31