Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02623:Zxdc'

300941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zxdc

Ensembl Gene

ENSMUSG00000034430

Gene Name

ZXD family zinc finger C

Synonyms

B930086F11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02623

Quality Score

Status

Chromosome

Chromosomal Location

90369492-90403490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90382370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 661 (K661N)

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: K661N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: K661N

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: K661N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: K661N

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: K100N

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 91,056,144	I35F	probably benign	Het
Acad10	A	G	5: 121,629,930	V819A	possibly damaging	Het
Adgrd1	A	T	5: 129,132,745	N279Y	probably damaging	Het
Aplp2	C	A	9: 31,178,083		probably benign	Het
Armc8	T	C	9: 99,527,069		probably benign	Het
B3gnt5	A	G	16: 19,769,610	D193G	probably damaging	Het
Cacng1	A	G	11: 107,704,319	F144S	probably damaging	Het
Dnm3	T	A	1: 162,355,432	T105S	probably damaging	Het
Efcab6	T	A	15: 83,879,448	I1228F	probably damaging	Het
Erc2	A	G	14: 27,776,980	D271G	probably damaging	Het
Fat3	T	C	9: 15,997,137	Y2523C	probably damaging	Het
Fhl4	A	G	10: 85,098,171	F249L	probably damaging	Het
Gm17782	T	C	17: 36,162,066		probably benign	Het
Gm4787	A	G	12: 81,378,728	Y219H	probably damaging	Het
Hk1	A	G	10: 62,292,359	L328P	probably benign	Het
Hspa12a	T	A	19: 58,809,551	Y245F	probably benign	Het
Kbtbd12	T	C	6: 88,618,389	Y153C	probably damaging	Het
Kcnd2	A	T	6: 21,726,195	R562S	probably benign	Het
Lct	T	C	1: 128,308,251	S340G	probably benign	Het
Maats1	T	A	16: 38,333,778	D135V	possibly damaging	Het
Mettl25	C	A	10: 105,826,324	G262W	probably damaging	Het
Mindy3	G	A	2: 12,364,483	Q142*	probably null	Het
Olfr1045	A	T	2: 86,198,019	H244Q	probably damaging	Het
Optn	T	C	2: 5,035,022	E318G	probably damaging	Het
Pan2	T	C	10: 128,312,899	S443P	probably benign	Het
Parva	A	G	7: 112,576,439	D259G	probably damaging	Het
Pkhd1l1	T	A	15: 44,584,873	L3816Q	probably damaging	Het
Polq	T	C	16: 37,060,375	F967S	probably benign	Het
Prdm16	T	C	4: 154,340,877	N817S	probably damaging	Het
Ptprt	C	A	2: 161,607,452		probably benign	Het
Rbbp8nl	T	A	2: 180,281,443	S154C	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slit1	T	C	19: 41,651,683	I169V	probably damaging	Het
Smyd4	G	T	11: 75,390,064		probably benign	Het
Tial1	A	G	7: 128,443,883	Y326H	probably benign	Het
Tmem198b	A	G	10: 128,802,451	L81P	probably damaging	Het
Tmem94	T	A	11: 115,796,401	C1115*	probably null	Het
Tns3	A	G	11: 8,437,141	S1349P	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Zfp106	A	T	2: 120,545,914		probably null	Het
Zfp119b	T	C	17: 55,939,793	E99G	probably damaging	Het
Zfp462	T	A	4: 55,012,986	C503S	probably damaging	Het
Zfyve19	G	A	2: 119,212,015		probably null	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
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
R5363:Zxdc	UTSW	6	90382146	missense	probably damaging	0.97
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

Posted On

2015-04-16