Mutagenetix > Incidental Mutation

Incidental Mutation 'R5363:Zxdc'

422928

Institutional Source

Beutler Lab

Gene Symbol

Zxdc

Ensembl Gene

ENSMUSG00000034430

Gene Name

ZXD family zinc finger C

Synonyms

B930086F11Rik

MMRRC Submission

042941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90369492-90403490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90382146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 587 (T587A)

Ref Sequence

ENSEMBL: ENSMUSP00000109167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045740] [ENSMUST00000075117] [ENSMUST00000113539]

AlphaFold

Q8C8V1

Predicted Effect

probably benign
Transcript: ENSMUST00000045740

SMART Domains

Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430

Domain	Start	End	E-Value	Type
low complexity region	22	73	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	134	152	N/A	INTRINSIC
ZnF_C2H2	176	200	4.79e-3	SMART
ZnF_C2H2	209	233	4.3e-5	SMART
ZnF_C2H2	239	263	4.3e-5	SMART
ZnF_C2H2	269	291	1.69e-3	SMART
ZnF_C2H2	298	322	1.82e-3	SMART
ZnF_C2H2	329	353	1.26e-2	SMART
ZnF_C2H2	359	383	1.36e-2	SMART
ZnF_C2H2	389	413	5.21e-4	SMART
ZnF_C2H2	419	443	4.72e-2	SMART
ZnF_C2H2	452	477	3.07e-1	SMART
low complexity region	487	502	N/A	INTRINSIC
low complexity region	635	651	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075117
AA Change: T587A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: T587A

Domain	Start	End	E-Value	Type
low complexity region	22	73	N/A	INTRINSIC
low complexity region	105	115	N/A	INTRINSIC
low complexity region	134	152	N/A	INTRINSIC
ZnF_C2H2	176	200	4.79e-3	SMART
ZnF_C2H2	209	233	4.3e-5	SMART
ZnF_C2H2	239	263	4.3e-5	SMART
ZnF_C2H2	269	291	1.69e-3	SMART
ZnF_C2H2	298	322	1.82e-3	SMART
ZnF_C2H2	329	353	1.26e-2	SMART
ZnF_C2H2	359	383	1.36e-2	SMART
ZnF_C2H2	389	413	5.21e-4	SMART
ZnF_C2H2	419	443	4.72e-2	SMART
ZnF_C2H2	452	477	3.07e-1	SMART
low complexity region	487	502	N/A	INTRINSIC
low complexity region	635	651	N/A	INTRINSIC
low complexity region	799	811	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000113539
AA Change: T587A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: T587A

Domain	Start	End	E-Value	Type
low complexity region	44	95	N/A	INTRINSIC
low complexity region	127	137	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
ZnF_C2H2	198	222	4.79e-3	SMART
ZnF_C2H2	231	255	4.3e-5	SMART
ZnF_C2H2	261	285	4.3e-5	SMART
ZnF_C2H2	291	313	1.69e-3	SMART
ZnF_C2H2	320	344	1.82e-3	SMART
ZnF_C2H2	351	375	1.26e-2	SMART
ZnF_C2H2	381	405	1.36e-2	SMART
ZnF_C2H2	411	435	5.21e-4	SMART
ZnF_C2H2	441	465	4.72e-2	SMART
ZnF_C2H2	474	499	3.07e-1	SMART
low complexity region	509	524	N/A	INTRINSIC
low complexity region	657	673	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203368

Predicted Effect

unknown
Transcript: ENSMUST00000203493
AA Change: T26A

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slc34a1	A	G	13: 55,403,268	I289V	probably benign	Het
Slc34a1	T	C	13: 55,412,290	L443P	probably damaging	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Zxdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Zxdc	APN	6	90373779	missense	probably damaging	1.00
IGL01943:Zxdc	APN	6	90372538	intron	probably benign
IGL02406:Zxdc	APN	6	90398836	missense	probably benign	0.00
IGL02596:Zxdc	APN	6	90373709	critical splice acceptor site	probably null
IGL02623:Zxdc	APN	6	90382370	missense	probably damaging	0.99
IGL02927:Zxdc	APN	6	90372562	missense	probably damaging	1.00
IGL03230:Zxdc	APN	6	90373803	missense	probably damaging	1.00
PIT4378001:Zxdc	UTSW	6	90373716	missense	probably damaging	1.00
R0071:Zxdc	UTSW	6	90370416	missense	probably damaging	1.00
R0194:Zxdc	UTSW	6	90372537	intron	probably benign
R1065:Zxdc	UTSW	6	90378903	missense	probably damaging	1.00
R1377:Zxdc	UTSW	6	90378903	missense	probably damaging	1.00
R1405:Zxdc	UTSW	6	90384243	missense	possibly damaging	0.50
R1405:Zxdc	UTSW	6	90384243	missense	possibly damaging	0.50
R1692:Zxdc	UTSW	6	90378951	nonsense	probably null
R2171:Zxdc	UTSW	6	90382479	missense	possibly damaging	0.53
R3952:Zxdc	UTSW	6	90370467	splice site	probably null
R4400:Zxdc	UTSW	6	90369810	missense	probably damaging	1.00
R4660:Zxdc	UTSW	6	90378838	missense	probably damaging	0.99
R4776:Zxdc	UTSW	6	90370518	missense	probably damaging	1.00
R4781:Zxdc	UTSW	6	90372553	missense	probably damaging	0.98
R4843:Zxdc	UTSW	6	90382272	missense	probably damaging	1.00
R5028:Zxdc	UTSW	6	90382338	missense	probably benign	0.44
R5260:Zxdc	UTSW	6	90382093	missense	probably damaging	1.00
R5279:Zxdc	UTSW	6	90370437	missense	possibly damaging	0.86
R5324:Zxdc	UTSW	6	90373800	missense	probably damaging	1.00
R5436:Zxdc	UTSW	6	90370560	missense	probably damaging	0.99
R5872:Zxdc	UTSW	6	90370299	missense	probably damaging	0.99
R5940:Zxdc	UTSW	6	90370325	missense	probably damaging	1.00
R6762:Zxdc	UTSW	6	90382183	missense	probably benign
R7175:Zxdc	UTSW	6	90369663	missense	possibly damaging	0.85
R7197:Zxdc	UTSW	6	90378837	missense	probably damaging	0.99
R7238:Zxdc	UTSW	6	90369660	missense	unknown
R7247:Zxdc	UTSW	6	90384173	missense	unknown
R7917:Zxdc	UTSW	6	90382009	missense	probably damaging	1.00
R7976:Zxdc	UTSW	6	90398767	missense	probably benign	0.05
R8792:Zxdc	UTSW	6	90370004	missense	probably benign	0.00
R8917:Zxdc	UTSW	6	90382323	missense	probably benign	0.00
R9016:Zxdc	UTSW	6	90382272	missense	probably damaging	1.00
R9076:Zxdc	UTSW	6	90372839	missense	probably damaging	1.00
R9190:Zxdc	UTSW	6	90398791	missense	probably damaging	0.96
R9216:Zxdc	UTSW	6	90382207	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TCGGATGAAGCACTGAACTC -3'
(R):5'- CCACCTTTATTGGAACCAGCAG -3'

Sequencing Primer
(F):5'- TGAAGCACTGAACTCTGGGATCC -3'
(R):5'- CACCTTTATTGGAACCAGCAGATCTG -3'

Posted On

2016-08-04