Mutagenetix > Incidental Mutation

Incidental Mutation 'R6781:Zc3h6'

531404

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

044895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R6781 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129015421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 620 (F620S)

Ref Sequence

ENSEMBL: ENSMUSP00000105949 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110320
AA Change: F620S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: F620S

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

0.0663

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,374,406	I259N	possibly damaging	Het
Acot12	G	T	13: 91,784,412		probably null	Het
AI182371	G	T	2: 35,084,705		probably benign	Het
Amigo3	T	C	9: 108,053,963	L195P	probably damaging	Het
Aox4	A	T	1: 58,245,109	D556V	probably benign	Het
Arhgef40	A	C	14: 51,997,897		probably benign	Het
Asb15	T	C	6: 24,558,675	V63A	probably benign	Het
Bicd1	T	C	6: 149,513,166	I459T	possibly damaging	Het
Bub1	C	A	2: 127,807,857	G694W	probably damaging	Het
C4b	A	T	17: 34,742,954	I106N	probably damaging	Het
Clca4b	T	C	3: 144,922,801	I382V	probably benign	Het
Cntnap5a	A	C	1: 116,292,397	S646R	probably benign	Het
Cntnap5c	C	T	17: 58,138,653	Q563*	probably null	Het
Cpn1	A	G	19: 43,980,904	F107L	possibly damaging	Het
Csrnp3	T	A	2: 66,022,271	C336S	probably benign	Het
Defa3	T	A	8: 21,288,261	M87K	probably benign	Het
Dmbt1	T	C	7: 131,046,561	F274L	probably benign	Het
Dnah8	TTA	TTATA	17: 30,765,724		probably null	Het
Dnase2b	T	C	3: 146,582,371	H323R	probably benign	Het
Fam83e	A	T	7: 45,722,147		probably benign	Het
Fbn1	T	C	2: 125,317,038	N2269S	probably damaging	Het
Foxa1	A	T	12: 57,543,257	M59K	possibly damaging	Het
Fpr3	T	C	17: 17,970,716	V83A	probably benign	Het
Frmd6	A	G	12: 70,899,643	D615G	possibly damaging	Het
Gfra3	T	C	18: 34,711,322	K55R	possibly damaging	Het
Gm5414	A	T	15: 101,625,661	S296T	possibly damaging	Het
Gtf3c1	T	A	7: 125,659,197	K1234*	probably null	Het
Hltf	T	A	3: 20,098,166	Y609N	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ift74	A	G	4: 94,627,302	D152G	probably damaging	Het
Kcnk6	T	C	7: 29,225,055	Y308C	probably damaging	Het
Klhl29	A	G	12: 5,091,347	S546P	probably damaging	Het
Map7d1	AGGGCAGCC	AGGGCAGCCGGGCAGCC	4: 126,240,751		probably null	Het
Meis2	T	A	2: 116,049,155	H228L	probably benign	Het
Mfsd10	A	T	5: 34,634,509	M344K	possibly damaging	Het
Mrps33	T	C	6: 39,805,823		probably benign	Het
Olfr1198	A	T	2: 88,746,830	N19K	probably benign	Het
Olfr437	A	G	6: 43,167,388	E110G	probably damaging	Het
Pik3cb	T	C	9: 99,040,992	T996A	possibly damaging	Het
Plekha7	A	G	7: 116,157,855		probably null	Het
Ppp1cb	A	G	5: 32,480,762	Y86C	probably damaging	Het
Sass6	T	G	3: 116,595,124		probably benign	Het
Slc6a15	A	T	10: 103,395,067	I218F	probably damaging	Het
St5	T	C	7: 109,525,304	D1110G	possibly damaging	Het
Tcf23	C	T	5: 30,968,960	P61L	probably benign	Het
Yod1	G	A	1: 130,717,538	G19S	probably damaging	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
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
R8048:Zc3h6	UTSW	2	129017014	missense	probably benign	0.30
R8877:Zc3h6	UTSW	2	129014399	nonsense	probably null
R9076:Zc3h6	UTSW	2	129017176	nonsense	probably null
R9577:Zc3h6	UTSW	2	129016182	missense
R9687:Zc3h6	UTSW	2	129017361	missense	probably damaging	1.00
R9745:Zc3h6	UTSW	2	129017235	missense	probably benign	0.08
Z1176:Zc3h6	UTSW	2	129016221	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGCTGGTAAGATTACTGATGGAAG -3'
(R):5'- GTGCCAGCTGGTTCTTCATC -3'

Sequencing Primer
(F):5'- GCTGGGCTCGAACTCAGAAATC -3'
(R):5'- CTTCTTGGTATCTCTGAGTCAACGG -3'

Posted On

2018-08-29