Mutagenetix > Incidental Mutation

Incidental Mutation 'R7917:Zxdc'

648138

Institutional Source

Beutler Lab

Gene Symbol

Zxdc

Ensembl Gene

ENSMUSG00000034430

Gene Name

ZXD family zinc finger C

Synonyms

B930086F11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R7917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90369492-90403490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90382009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 541 (I541N)

Ref Sequence

ENSEMBL: ENSMUSP00000074619 (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: I541N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: I541N

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: I541N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: I541N

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

probably benign
Transcript: ENSMUST00000203493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,068,107	H730Q	probably damaging	Het
Adam20	A	G	8: 40,796,371	D506G	probably damaging	Het
Brinp1	A	G	4: 68,904,953	M1T	probably null	Het
Ccnc	T	A	4: 21,748,158	N273K	possibly damaging	Het
Cfdp1	C	A	8: 111,840,401	V159L	possibly damaging	Het
Cyb5r1	T	A	1: 134,406,900		probably benign	Het
Dsp	C	T	13: 38,167,639	Q145*	probably null	Het
Exosc9	G	A	3: 36,553,819	V59I	probably damaging	Het
Fermt2	C	G	14: 45,461,861	R592T	probably damaging	Het
Fryl	A	G	5: 73,054,532	S2381P	probably damaging	Het
Fscn2	G	A	11: 120,367,256	E335K	possibly damaging	Het
Hapln1	T	C	13: 89,607,878	I267T	probably benign	Het
Hdac9	T	A	12: 34,433,210	I93L	probably benign	Het
Igfn1	T	C	1: 135,971,968	D535G	probably damaging	Het
Ighv1-4	A	T	12: 114,487,545	F9I	possibly damaging	Het
Il3ra	T	A	14: 14,350,773	H262Q	possibly damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Mtg1	A	T	7: 140,147,265	D227V	probably damaging	Het
Nrcam	T	G	12: 44,573,763		probably null	Het
Olfr1308	A	C	2: 111,960,965	V36G	probably damaging	Het
Olfr309	T	C	7: 86,306,478	T212A	probably damaging	Het
Olfr906	T	A	9: 38,488,609	Y193*	probably null	Het
Pcdha1	T	A	18: 36,932,201	D639E	possibly damaging	Het
Pcdhga8	T	A	18: 37,727,616	V575E	possibly damaging	Het
Pcif1	G	T	2: 164,888,472	R375L	probably benign	Het
Pcna	A	T	2: 132,253,009	S10T	probably benign	Het
Pdzd8	A	G	19: 59,345,086	S168P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polq	T	A	16: 37,065,288	D1842E	probably benign	Het
Rag2	A	T	2: 101,629,695	N117Y	probably damaging	Het
Scnn1g	T	C	7: 121,743,693	Y290H	probably damaging	Het
Sri	T	C	5: 8,063,409		probably null	Het
Tek	T	C	4: 94,820,135	V361A	possibly damaging	Het
Terf1	T	A	1: 15,819,076	L243Q	probably damaging	Het
Thrap3	G	A	4: 126,175,420	T646I	probably damaging	Het
Uba1y	A	G	Y: 821,274	I86V	probably benign	Het
Vmn2r29	A	G	7: 7,231,728	S720P	probably damaging	Het
Zeb2	T	C	2: 44,996,409	N879D	possibly damaging	Het
Zfp266	T	C	9: 20,505,127	T56A	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
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
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'- TCTTAATCCGGCAACATAGTAACTG -3'
(R):5'- TCATCTGCACTGAAGCTGCC -3'

Sequencing Primer
(F):5'- ACAGATCTTGTACCTCAGCTGGAAG -3'
(R):5'- AGCTGCCTGGTTGGAGAAC -3'

Posted On

2020-09-15