Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02803:Zcchc9'

360320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc9

Ensembl Gene

ENSMUSG00000021621

Gene Name

zinc finger, CCHC domain containing 9

Synonyms

1810019C21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02803

Quality Score

Status

Chromosome

Chromosomal Location

91944652-91955824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91949000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 174 (V174I)

Ref Sequence

ENSEMBL: ENSMUSP00000022121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022121] [ENSMUST00000070886]

AlphaFold

Q8R1J3

Predicted Effect

probably benign
Transcript: ENSMUST00000022121
AA Change: V174I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022121
Gene: ENSMUSG00000021621
AA Change: V174I

Domain	Start	End	E-Value	Type
low complexity region	57	65	N/A	INTRINSIC
ZnF_C2HC	129	145	1.13e-2	SMART
ZnF_C2HC	156	172	6.55e-2	SMART
ZnF_C2HC	185	201	3.44e-4	SMART
ZnF_C2HC	212	228	2.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000070886
AA Change: V34I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065158
Gene: ENSMUSG00000021621
AA Change: V34I

Domain	Start	End	E-Value	Type
ZnF_C2HC	16	32	6.55e-2	SMART
ZnF_C2HC	45	61	3.44e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179368

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmo	C	T	12: 37,302,480 (GRCm39)	L106F	probably benign	Het
Appl1	A	G	14: 26,673,473 (GRCm39)	I208T	possibly damaging	Het
Arap2	G	T	5: 62,906,452 (GRCm39)	A189D	probably benign	Het
Arhgef12	T	C	9: 42,883,324 (GRCm39)	K1402E	possibly damaging	Het
C7	A	C	15: 5,079,042 (GRCm39)	F89V	probably damaging	Het
Camsap2	G	A	1: 136,208,861 (GRCm39)	T877I	probably damaging	Het
Cpt2	T	C	4: 107,764,583 (GRCm39)	T394A	probably benign	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dnah10	C	A	5: 124,875,078 (GRCm39)	T2528N	probably damaging	Het
Entpd8	G	T	2: 24,975,151 (GRCm39)	W494L	probably damaging	Het
Fam114a1	T	A	5: 65,163,135 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,943,444 (GRCm39)	V779A	probably damaging	Het
Gckr	T	C	5: 31,455,548 (GRCm39)	S34P	probably damaging	Het
Golga4	T	C	9: 118,364,528 (GRCm39)	V297A	probably benign	Het
Gpr65	T	C	12: 98,241,469 (GRCm39)	S41P	probably damaging	Het
Gps1	G	T	11: 120,677,649 (GRCm39)	A221S	probably damaging	Het
Heatr1	T	A	13: 12,448,867 (GRCm39)	S1861T	probably damaging	Het
Hmces	A	G	6: 87,902,711 (GRCm39)	E184G	probably damaging	Het
Itfg1	T	C	8: 86,452,140 (GRCm39)		probably null	Het
Mrtfb	C	T	16: 13,221,020 (GRCm39)	T743I	possibly damaging	Het
Nfe2l3	A	G	6: 51,434,291 (GRCm39)	S284G	possibly damaging	Het
Nlrp2	C	A	7: 5,331,317 (GRCm39)	A360S	probably damaging	Het
Nop9	A	G	14: 55,987,533 (GRCm39)	H298R	probably benign	Het
Or5an1	A	T	19: 12,261,347 (GRCm39)	S312C	possibly damaging	Het
Or5h17	T	A	16: 58,820,321 (GRCm39)	V91E	probably benign	Het
Or6ae1	T	C	7: 139,742,287 (GRCm39)	D192G	possibly damaging	Het
Osgin1	A	G	8: 120,170,006 (GRCm39)	M158V	probably benign	Het
Patj	C	A	4: 98,314,301 (GRCm39)	Q374K	probably damaging	Het
Pck1	G	T	2: 172,997,797 (GRCm39)	G289W	probably damaging	Het
Phkg1	T	G	5: 129,894,895 (GRCm39)	I219L	possibly damaging	Het
Ppp1r15b	G	A	1: 133,061,081 (GRCm39)	A533T	probably damaging	Het
Ppwd1	T	C	13: 104,350,192 (GRCm39)	I398V	probably benign	Het
Prkdc	A	G	16: 15,651,530 (GRCm39)		probably benign	Het
Psg25	G	A	7: 18,260,212 (GRCm39)	L229F	possibly damaging	Het
Rps6ka1	T	A	4: 133,608,265 (GRCm39)	Q24L	probably benign	Het
Sgk3	T	C	1: 9,949,273 (GRCm39)	I147T	possibly damaging	Het
Slc25a24	T	A	3: 109,062,387 (GRCm39)	I159N	probably damaging	Het
Slc26a4	T	C	12: 31,572,526 (GRCm39)		probably null	Het
Slc35f4	T	C	14: 49,541,714 (GRCm39)	I347V	probably benign	Het
Spag17	A	T	3: 100,016,713 (GRCm39)	M2163L	probably benign	Het
Stab2	C	T	10: 86,786,133 (GRCm39)		probably benign	Het
Sult2a8	G	A	7: 14,145,630 (GRCm39)		probably benign	Het
Syne2	T	C	12: 76,078,320 (GRCm39)	L4718P	probably damaging	Het
Timd4	G	T	11: 46,706,521 (GRCm39)	G108W	probably damaging	Het
Timm9	T	C	12: 71,173,148 (GRCm39)		probably benign	Het
Vmn2r98	G	A	17: 19,286,275 (GRCm39)	V258I	probably benign	Het
Zdbf2	T	C	1: 63,342,236 (GRCm39)	V205A	possibly damaging	Het

Other mutations in Zcchc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02975:Zcchc9	APN	13	91,954,172 (GRCm39)	missense	possibly damaging	0.57
R0067:Zcchc9	UTSW	13	91,945,368 (GRCm39)	missense	probably benign
R0067:Zcchc9	UTSW	13	91,945,368 (GRCm39)	missense	probably benign
R0387:Zcchc9	UTSW	13	91,949,066 (GRCm39)	missense	probably benign	0.04
R0433:Zcchc9	UTSW	13	91,954,081 (GRCm39)	missense	probably benign
R1752:Zcchc9	UTSW	13	91,953,899 (GRCm39)	missense	possibly damaging	0.64
R3077:Zcchc9	UTSW	13	91,954,101 (GRCm39)	missense	probably benign
R4721:Zcchc9	UTSW	13	91,948,728 (GRCm39)	critical splice donor site	probably null
R5181:Zcchc9	UTSW	13	91,945,281 (GRCm39)	nonsense	probably null
R5808:Zcchc9	UTSW	13	91,948,766 (GRCm39)	missense	probably benign	0.03
R6146:Zcchc9	UTSW	13	91,953,986 (GRCm39)	nonsense	probably null
R6341:Zcchc9	UTSW	13	91,948,816 (GRCm39)	missense	possibly damaging	0.62
R8961:Zcchc9	UTSW	13	91,953,955 (GRCm39)	unclassified	probably benign
R9348:Zcchc9	UTSW	13	91,954,186 (GRCm39)	missense

Posted On

2015-12-18