Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Zc3h6'

569746

Institutional Source

Beutler Lab

Gene Symbol

Zc3h6

Ensembl Gene

ENSMUSG00000042851

Gene Name

zinc finger CCCH type containing 6

Synonyms

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

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

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128967402-129018563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128993190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 82 (D82G)

Ref Sequence

ENSEMBL: ENSMUSP00000105948 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110319
AA Change: D82G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105948
Gene: ENSMUSG00000042851
AA Change: D82G

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

possibly damaging
Transcript: ENSMUST00000110320
AA Change: D82G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: D82G

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

0.0731

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,299,867 (GRCm38)	D282N	probably damaging	Het
Adam30	A	T	3: 98,162,321 (GRCm38)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,355,963 (GRCm38)	I223F	probably damaging	Het
Ano8	T	A	8: 71,483,011 (GRCm38)	E321V	probably damaging	Het
Apc2	A	G	10: 80,313,482 (GRCm38)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,514 (GRCm38)	V38E	probably benign	Het
Atp4a	T	C	7: 30,716,730 (GRCm38)	S417P	possibly damaging	Het
AY358078	A	G	14: 51,826,259 (GRCm38)	N454S	probably damaging	Het
Cables2	A	G	2: 180,261,657 (GRCm38)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318 (GRCm38)		probably benign	Het
Camsap3	G	A	8: 3,587,960 (GRCm38)		probably null	Het
Ccdc178	A	T	18: 22,017,461 (GRCm38)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,200,973 (GRCm38)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 123,951,220 (GRCm38)	D307G	probably damaging	Het
Cdcp3	A	G	7: 131,277,615 (GRCm38)	T1788A	unknown	Het
Cdh23	A	G	10: 60,530,996 (GRCm38)	I235T	probably benign	Het
Cep89	G	A	7: 35,429,928 (GRCm38)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,921,583 (GRCm38)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,378,407 (GRCm38)	T116S	probably benign	Het
Clec16a	A	G	16: 10,580,963 (GRCm38)	N329S	probably null	Het
Col25a1	A	G	3: 130,546,357 (GRCm38)		probably null	Het
Daam1	T	G	12: 71,988,939 (GRCm38)	D969E	probably benign	Het
Dntt	A	C	19: 41,058,565 (GRCm38)		probably null	Het
Dsel	C	T	1: 111,861,573 (GRCm38)	G411S	probably damaging	Het
Dst	T	A	1: 34,190,729 (GRCm38)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,561,148 (GRCm38)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,377,009 (GRCm38)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,837,247 (GRCm38)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203 (GRCm38)		probably benign	Het
Fus	T	A	7: 127,981,951 (GRCm38)		probably null	Het
Galnt9	T	A	5: 110,614,188 (GRCm38)	N397K	probably damaging	Het
Gdi1	G	A	X: 74,306,855 (GRCm38)	R55H	probably benign	Het
Gga1	A	G	15: 78,891,451 (GRCm38)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,640,293 (GRCm38)	I295T	unknown	Het
Hk2	T	C	6: 82,728,892 (GRCm38)	E810G	probably benign	Het
Igsf10	A	G	3: 59,325,768 (GRCm38)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,814,316 (GRCm38)		probably null	Het
Ip6k3	T	A	17: 27,148,530 (GRCm38)	M231L	probably benign	Het
Itgb8	T	C	12: 119,192,204 (GRCm38)	N171S	probably benign	Het
Ldlrad3	T	C	2: 102,066,839 (GRCm38)		probably null	Het
Ltbp1	T	A	17: 75,327,228 (GRCm38)	C886*	probably null	Het
Mettl13	T	C	1: 162,538,978 (GRCm38)	D444G	probably benign	Het
Mns1	A	G	9: 72,448,743 (GRCm38)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,256,896 (GRCm38)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,590,073 (GRCm38)	Q155*	probably null	Het
Myo5c	A	C	9: 75,289,141 (GRCm38)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,233,125 (GRCm38)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,767,456 (GRCm38)	Q583*	probably null	Het
Or14c44	T	C	7: 86,412,749 (GRCm38)	L129P	possibly damaging	Het
Or14j8	T	A	17: 37,952,522 (GRCm38)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 88,149,276 (GRCm38)	T248A	possibly damaging	Het
Otoa	A	G	7: 121,130,065 (GRCm38)	T554A	probably benign	Het
Per1	A	G	11: 69,103,182 (GRCm38)	D438G	probably damaging	Het
Phactr3	G	A	2: 178,334,061 (GRCm38)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,599,543 (GRCm38)	F417S	probably damaging	Het
Pole	A	T	5: 110,334,464 (GRCm38)	T2057S	probably benign	Het
Polq	A	G	16: 37,060,926 (GRCm38)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,359,148 (GRCm38)	T36A	probably benign	Het
Rbm26	A	T	14: 105,152,540 (GRCm38)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,898,538 (GRCm38)	I449T	probably damaging	Het
Sap25	A	G	5: 137,642,673 (GRCm38)	T225A	probably benign	Het
Sart3	A	G	5: 113,744,667 (GRCm38)	M864T	probably benign	Het
Sec31b	T	C	19: 44,528,722 (GRCm38)	S280G	probably benign	Het
Sema4d	A	T	13: 51,723,562 (GRCm38)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,921,464 (GRCm38)	R419S	unknown	Het
Slc13a3	T	C	2: 165,430,290 (GRCm38)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,139,982 (GRCm38)	D312G	probably benign	Het
Slc39a2	A	T	14: 51,894,203 (GRCm38)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,136,354 (GRCm38)	V148E	probably benign	Het
Syngr2	A	G	11: 117,812,496 (GRCm38)	E46G	probably damaging	Het
Taok1	A	G	11: 77,579,817 (GRCm38)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,678,222 (GRCm38)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,589,914 (GRCm38)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,545,269 (GRCm38)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,168,100 (GRCm38)	D659G	possibly damaging	Het
Tnn	G	T	1: 160,146,022 (GRCm38)	D258E	probably damaging	Het
Traj33	A	G	14: 54,185,405 (GRCm38)	I16V	unknown	Het
Ttll13	G	T	7: 80,257,024 (GRCm38)	C480F	probably damaging	Het
Ttn	T	C	2: 76,884,071 (GRCm38)	N8137S	unknown	Het
Vmn1r85	T	C	7: 13,085,146 (GRCm38)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,444,699 (GRCm38)	Q649R	probably null	Het
Zan	T	C	5: 137,383,830 (GRCm38)	T5152A	unknown	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
R5950:Zc3h6	UTSW	2	128,997,790 (GRCm38)	nonsense	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
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'- GGTGGCCTTAGAGCAAGAA -3'
(R):5'- GAATGCCCTTGGACACTCCTT -3'

Sequencing Primer
(F):5'- GTGGCCTTAGAGCAAGAATTTCTC -3'
(R):5'- ACCACAGTGATGGCTGAATTCTG -3'

Posted On

2019-09-13