Mutagenetix > Incidental Mutation

Incidental Mutation 'R1065:Zxdc'

85959

Institutional Source

Beutler Lab

Gene Symbol

Zxdc

Ensembl Gene

ENSMUSG00000034430

Gene Name

ZXD family zinc finger C

Synonyms

B930086F11Rik

MMRRC Submission

039151-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90369492-90403490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90378903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 465 (S465P)

Ref Sequence

ENSEMBL: ENSMUSP00000109167 (fasta)

Gene Model

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

AlphaFold

Q8C8V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000045740
AA Change: S465P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: S465P

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: S465P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: S465P

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: S465P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: S465P

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: ENSMUST00000137483

Predicted Effect

probably benign
Transcript: ENSMUST00000203493

Meta Mutation Damage Score

0.2509

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	A	G	6: 129,323,050	I155T	possibly damaging	Het
Cd300ld2	T	C	11: 115,013,760	T94A	probably damaging	Het
Cdc42bpg	G	A	19: 6,322,826	S1515N	probably damaging	Het
Ckb	T	C	12: 111,671,247	E150G	probably benign	Het
Cobl	T	A	11: 12,254,327	M785L	possibly damaging	Het
Col6a5	T	C	9: 105,881,783	N2075D	probably damaging	Het
Commd7	G	C	2: 153,619,527		probably benign	Het
Corin	G	A	5: 72,301,650	R927*	probably null	Het
Ift122	A	T	6: 115,875,325		probably null	Het
Il1b	G	A	2: 129,368,007	T83I	probably benign	Het
Ints4	T	C	7: 97,507,892		probably null	Het
Msh6	T	G	17: 87,988,463		probably benign	Het
Mtmr3	T	C	11: 4,492,859	K392E	probably damaging	Het
Olfr1094	A	G	2: 86,829,544	H264R	probably damaging	Het
Pde3a	T	C	6: 141,476,732		probably benign	Het
Pde6h	A	C	6: 136,959,370	K37T	probably damaging	Het
Plat	C	A	8: 22,776,863	D290E	probably damaging	Het
Polk	A	C	13: 96,508,252	L122R	probably damaging	Het
Ppp1r3g	T	A	13: 35,969,435	D279E	probably benign	Het
Ptpru	T	C	4: 131,808,340	E370G	possibly damaging	Het
Ralgapa2	T	C	2: 146,450,558	Y187C	probably benign	Het
Rps6ka2	C	T	17: 7,281,758		probably benign	Het
Slit3	T	C	11: 35,121,635	S41P	possibly damaging	Het
Smarca5	A	T	8: 80,704,714	L958Q	probably damaging	Het
Snx9	T	C	17: 5,902,361		probably benign	Het
Stkld1	A	T	2: 26,940,038	N72I	probably damaging	Het
Strc	C	A	2: 121,366,651	D1532Y	probably damaging	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Svil	T	G	18: 5,063,777		probably benign	Het
Traf3ip1	T	A	1: 91,500,784	D122E	unknown	Het
Vmn2r7	A	T	3: 64,707,138	D509E	possibly damaging	Het
Vps52	C	A	17: 33,961,239	Q306K	probably benign	Het
Wdr60	C	T	12: 116,256,076	R82H	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp418	C	A	7: 7,181,562	Q175K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- ctgaattgtcttatcagtccAGTGTCATTTCT -3'
(R):5'- CTTCTCTCATACCCCAGCCCATTCC -3'

Sequencing Primer
(F):5'- tcagtccAGTGTCATTTCTGATGTAG -3'
(R):5'- GTCCATCTGTAGGACACAGTC -3'

Posted On

2013-11-18