Mutagenetix > Incidental Mutations

Incidental Mutation 'R8048:Zc3h6'

618856

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129017014 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 988 (S988R)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110320
AA Change: S988R

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: S988R

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,410,844	L318F	probably damaging	Het
Alms1	T	A	6: 85,641,334	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883	T443I	probably benign	Het
Arhgap29	C	T	3: 121,992,901	R372W	probably damaging	Het
Astn1	T	C	1: 158,688,638	I1266T	probably benign	Het
Bsg	T	C	10: 79,709,746	V164A	probably benign	Het
C1qa	G	T	4: 136,896,610	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,863	V92A	probably benign	Het
Ccdc187	T	A	2: 26,293,514	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,263,210	Y758F	possibly damaging	Het
Ddx4	G	A	13: 112,622,172	A285V	probably null	Het
Dsg1c	A	T	18: 20,274,767	K390M	probably damaging	Het
Dst	T	C	1: 34,190,636	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,649,758		probably null	Het
Fez2	T	C	17: 78,387,053	I303V	probably benign	Het
Ffar1	A	T	7: 30,860,578	I298N	probably benign	Het
Hpx	C	T	7: 105,595,478	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,121,802	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903	D99G	probably benign	Het
Ivl	T	A	3: 92,571,924	K278M	probably damaging	Het
Lyst	A	G	13: 13,687,645	T2589A	probably benign	Het
Madd	A	T	2: 91,154,448	M1359K	probably damaging	Het
Nav3	T	C	10: 109,764,918	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,179,698	C439*	probably null	Het
Nebl	T	C	2: 17,424,522	D266G	probably benign	Het
Oas1f	G	T	5: 120,847,537	G49V	probably damaging	Het
Oas1f	A	T	5: 120,848,416	Q144L	possibly damaging	Het
Olfr1032	T	G	2: 86,008,180	S135A	probably damaging	Het
Olfr1052	C	T	2: 86,298,328	P171S	probably benign	Het
Olfr1062	T	A	2: 86,423,307	Y123F	probably damaging	Het
Olfr134	T	C	17: 38,175,528	V148A	probably benign	Het
Olfr141	T	A	2: 86,806,171	Y276F	probably damaging	Het
Olfr1440	A	G	19: 12,394,355	I31V	not run	Het
Olfr324	A	G	11: 58,597,407	I6V	unknown	Het
Olfr711	C	T	7: 106,972,464		probably benign	Het
Olfr740	T	C	14: 50,453,916	L288P	possibly damaging	Het
Olfr917	C	T	9: 38,665,812	E11K	probably benign	Het
Pard3b	T	A	1: 62,153,989	V217E	probably damaging	Het
Pcdha2	T	A	18: 36,939,460	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,303,127	F1248L		Het
Plekha2	A	T	8: 25,063,989		probably benign	Het
Plpp4	C	T	7: 129,379,477	R151C	unknown	Het
Pramef17	T	A	4: 143,991,607	Y422F	probably benign	Het
Prdm16	A	G	4: 154,320,882	L1245P	probably damaging	Het
Prob1	G	A	18: 35,653,551	A550V	probably benign	Het
Prok1	T	C	3: 107,237,092	H65R	probably benign	Het
Ptcd1	A	G	5: 145,155,077	V404A	probably benign	Het
Sbf2	T	C	7: 110,315,082	E1631G	probably benign	Het
Sdad1	C	A	5: 92,300,089	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,910,072	A547S	probably benign	Het
Sptb	T	C	12: 76,628,559	D227G	probably benign	Het
Tbx1	A	G	16: 18,588,019	M1T	probably null	Het
Tespa1	T	A	10: 130,347,339	V51D	probably damaging	Het
Tmc7	T	C	7: 118,566,245	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,559	T23S	probably damaging	Het
Trib3	A	T	2: 152,338,633	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,183,500	V178A	probably benign	Het
Virma	T	A	4: 11,539,918	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,471,500	T254A	probably benign	Het
Vps13d	A	G	4: 145,155,567	V1152A		Het
Wdr47	T	C	3: 108,618,968	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,324,537	D676E	unknown	Het

Other mutations in Zc3h6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Zc3h6	APN	2	129011875	missense	probably damaging	1.00
IGL01880:Zc3h6	APN	2	129017378	missense	probably damaging	0.99
IGL02160:Zc3h6	APN	2	128997685	missense	probably benign	0.02
IGL02161:Zc3h6	APN	2	128993226	missense	possibly damaging	0.90
IGL02202:Zc3h6	APN	2	129016581	missense	probably damaging	1.00
IGL02547:Zc3h6	APN	2	129015611	missense	probably benign	0.00
IGL02973:Zc3h6	APN	2	128997795	missense	probably damaging	0.98
BB001:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
BB011:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
R0336:Zc3h6	UTSW	2	129015412	missense	possibly damaging	0.81
R0420:Zc3h6	UTSW	2	129014827	missense	probably benign	0.00
R0538:Zc3h6	UTSW	2	129017223	missense	possibly damaging	0.75
R0944:Zc3h6	UTSW	2	129006816	missense	probably damaging	1.00
R1151:Zc3h6	UTSW	2	129017136	missense	probably benign	0.00
R1528:Zc3h6	UTSW	2	129017069	missense	probably benign	0.01
R1698:Zc3h6	UTSW	2	129017358	missense	probably benign
R1712:Zc3h6	UTSW	2	129016734	missense	probably damaging	1.00
R1913:Zc3h6	UTSW	2	129016620	missense	probably damaging	1.00
R1926:Zc3h6	UTSW	2	128997795	missense	probably damaging	0.98
R2030:Zc3h6	UTSW	2	129006086	missense	probably damaging	1.00
R2051:Zc3h6	UTSW	2	129015618	missense	possibly damaging	0.55
R2133:Zc3h6	UTSW	2	128967830	missense	possibly damaging	0.53
R2273:Zc3h6	UTSW	2	129014709	missense	probably benign	0.01
R2328:Zc3h6	UTSW	2	128993202	missense	possibly damaging	0.85
R2862:Zc3h6	UTSW	2	129015460	missense	probably benign	0.43
R2899:Zc3h6	UTSW	2	129002232	missense	probably benign	0.00
R3711:Zc3h6	UTSW	2	129017331	missense	probably benign	0.00
R3743:Zc3h6	UTSW	2	128997792	missense	probably damaging	1.00
R3893:Zc3h6	UTSW	2	129016140	missense	probably damaging	1.00
R4748:Zc3h6	UTSW	2	129002240	missense	probably damaging	1.00
R5025:Zc3h6	UTSW	2	129010433	missense	possibly damaging	0.87
R5026:Zc3h6	UTSW	2	129017309	missense	probably benign	0.00
R5125:Zc3h6	UTSW	2	129014479	missense	possibly damaging	0.93
R5373:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5374:Zc3h6	UTSW	2	129002156	missense	possibly damaging	0.75
R5703:Zc3h6	UTSW	2	128993452	intron	probably benign
R5802:Zc3h6	UTSW	2	129015559	missense	possibly damaging	0.56
R5876:Zc3h6	UTSW	2	128993277	missense	probably benign	0.29
R5879:Zc3h6	UTSW	2	128997776	splice site	probably null
R5950:Zc3h6	UTSW	2	128997790	nonsense	probably null
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6031:Zc3h6	UTSW	2	128967812	missense	possibly damaging	0.85
R6781:Zc3h6	UTSW	2	129015421	missense	probably damaging	0.99
R7323:Zc3h6	UTSW	2	128993411	missense	unknown
R7340:Zc3h6	UTSW	2	128993190	missense	possibly damaging	0.90
R7572:Zc3h6	UTSW	2	129017252	missense	probably benign	0.02
R7576:Zc3h6	UTSW	2	129014553	missense	probably damaging	1.00
R7797:Zc3h6	UTSW	2	129015635	critical splice donor site	probably null
R7924:Zc3h6	UTSW	2	129015480	missense	possibly damaging	0.52
Z1176:Zc3h6	UTSW	2	129016221	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCCTTGATCCAACATCAGC -3'
(R):5'- GCTCCATTGCAGATAACGAAC -3'

Sequencing Primer
(F):5'- TTGATCCAACATCAGCAGCCAAAG -3'
(R):5'- TGCAGATAACGAACCTTTATCCCTAG -3'

Posted On

2020-01-23