Mutagenetix > Incidental Mutation

Incidental Mutation 'R9190:Zxdc'

697677

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: 0.117) question?

Stock #

R9190 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90346474-90380472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90375773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 750 (K750E)

Ref Sequence

ENSEMBL: ENSMUSP00000074619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062750] [ENSMUST00000075117] [ENSMUST00000153843] [ENSMUST00000165673]

AlphaFold

Q8C8V1

Predicted Effect

probably benign
Transcript: ENSMUST00000062750

SMART Domains

Protein: ENSMUSP00000059976
Gene: ENSMUSG00000048794

Domain	Start	End	E-Value	Type
Pfam:DUF4200	1	127	5.4e-26	PFAM
coiled coil region	242	282	N/A	INTRINSIC
low complexity region	289	309	N/A	INTRINSIC
coiled coil region	374	427	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075117
AA Change: K750E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: K750E

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 benign
Transcript: ENSMUST00000153843

Predicted Effect

probably benign
Transcript: ENSMUST00000165673

SMART Domains

Protein: ENSMUSP00000126515
Gene: ENSMUSG00000048794

Domain	Start	End	E-Value	Type
low complexity region	26	44	N/A	INTRINSIC
low complexity region	108	120	N/A	INTRINSIC
Pfam:DUF4200	154	272	1.2e-35	PFAM
coiled coil region	396	436	N/A	INTRINSIC
low complexity region	443	463	N/A	INTRINSIC
coiled coil region	528	581	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,642,880 (GRCm39)	T183I	possibly damaging	Het
Abca13	T	A	11: 9,241,886 (GRCm39)	S1250T	probably damaging	Het
Adamts12	T	A	15: 11,336,446 (GRCm39)	S1510R	probably benign	Het
Adcy5	T	A	16: 35,089,364 (GRCm39)	C520*	probably null	Het
Arhgap21	A	T	2: 20,858,983 (GRCm39)	M1237K	probably null	Het
Atp8b4	T	A	2: 126,225,607 (GRCm39)	N541I	probably damaging	Het
Bbs12	G	T	3: 37,375,223 (GRCm39)	R557L	probably damaging	Het
Bcl7c	T	C	7: 127,266,200 (GRCm39)	T183A	probably benign	Het
Brd7	A	G	8: 89,081,274 (GRCm39)	S192P	probably damaging	Het
Calhm3	G	A	19: 47,146,121 (GRCm39)	A28V	probably benign	Het
Ccdc113	A	G	8: 96,263,101 (GRCm39)	N37S	probably damaging	Het
Cdh5	T	G	8: 104,867,337 (GRCm39)	V538G	probably damaging	Het
Cfap43	T	C	19: 47,726,293 (GRCm39)	E1639G	possibly damaging	Het
Clca3a2	C	T	3: 144,796,599 (GRCm39)	V203I	probably benign	Het
Clstn2	A	G	9: 97,414,815 (GRCm39)	F360L	probably damaging	Het
Cnst	GTGACACGCTTG	GTG	1: 179,407,039 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,260,058 (GRCm39)	Y234H	probably damaging	Het
Ddhd2	T	C	8: 26,244,495 (GRCm39)	S44G	probably benign	Het
Dync2i2	G	T	2: 29,922,211 (GRCm39)	H417N	probably benign	Het
Farp1	A	G	14: 121,492,988 (GRCm39)	E530G	probably damaging	Het
Fhad1	C	T	4: 141,646,058 (GRCm39)		probably null	Het
Foxj3	T	A	4: 119,477,538 (GRCm39)	C449*	probably null	Het
Fsbp	G	C	4: 11,584,005 (GRCm39)	V235L	probably benign	Het
Fuom	T	C	7: 139,681,252 (GRCm39)	E73G	probably benign	Het
Gm5134	A	G	10: 75,844,645 (GRCm39)	H667R	probably damaging	Het
Igsf21	A	G	4: 139,756,028 (GRCm39)	I361T	probably damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kmt2d	A	T	15: 98,749,896 (GRCm39)	V2599E	unknown	Het
Lama1	T	A	17: 68,111,514 (GRCm39)	M2255K		Het
Litafd	C	A	16: 8,501,647 (GRCm39)	P50T		Het
Lrrc32	A	G	7: 98,148,234 (GRCm39)	H338R	probably benign	Het
Map1b	C	A	13: 99,571,914 (GRCm39)	R269L	probably damaging	Het
Ms4a5	T	A	19: 11,256,733 (GRCm39)	I55F	probably damaging	Het
Muc5b	G	C	7: 141,411,939 (GRCm39)	L1628F	unknown	Het
Myo6	A	G	9: 80,195,384 (GRCm39)	Q918R	unknown	Het
Or1e25	T	A	11: 73,493,877 (GRCm39)	M157K	probably benign	Het
Or2t48	A	G	11: 58,420,161 (GRCm39)	V217A	possibly damaging	Het
Or5m11b	T	A	2: 85,805,884 (GRCm39)	I99N	possibly damaging	Het
Or9i1b	T	G	19: 13,896,967 (GRCm39)	N194K	probably benign	Het
Pals2	A	G	6: 50,157,219 (GRCm39)	R296G	probably damaging	Het
Plin5	A	G	17: 56,419,462 (GRCm39)	V320A	probably damaging	Het
Ptx4	A	T	17: 25,342,257 (GRCm39)	Q244L	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,495 (GRCm39)	T535A	probably benign	Het
Ranbp2	T	C	10: 58,313,117 (GRCm39)	F1279S	probably damaging	Het
Rgl1	T	C	1: 152,428,362 (GRCm39)	H254R	probably damaging	Het
Rida	C	T	15: 34,487,909 (GRCm39)	A69T	probably damaging	Het
Scn2a	T	C	2: 65,511,346 (GRCm39)	F131L	probably benign	Het
Septin1	T	C	7: 126,816,092 (GRCm39)	I141V	probably benign	Het
Slc10a6	A	G	5: 103,765,571 (GRCm39)	S171P	probably damaging	Het
Slc18a1	A	G	8: 69,519,790 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,388,526 (GRCm39)	S247P	possibly damaging	Het
Tet2	A	T	3: 133,187,147 (GRCm39)	I1094K	possibly damaging	Het
Tmem234	C	T	4: 129,501,333 (GRCm39)	S138L	probably benign	Het
Trpv1	T	A	11: 73,145,148 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,844,935 (GRCm39)	M766K	probably damaging	Het
Vmn2r84	T	C	10: 130,226,843 (GRCm39)	N332D	probably benign	Het
Zfp292	A	T	4: 34,819,563 (GRCm39)	I258N	probably damaging	Het

Other mutations in Zxdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Zxdc	APN	6	90,350,761 (GRCm39)	missense	probably damaging	1.00
IGL01943:Zxdc	APN	6	90,349,520 (GRCm39)	intron	probably benign
IGL02406:Zxdc	APN	6	90,375,818 (GRCm39)	missense	probably benign	0.00
IGL02596:Zxdc	APN	6	90,350,691 (GRCm39)	critical splice acceptor site	probably null
IGL02623:Zxdc	APN	6	90,359,352 (GRCm39)	missense	probably damaging	0.99
IGL02927:Zxdc	APN	6	90,349,544 (GRCm39)	missense	probably damaging	1.00
IGL03230:Zxdc	APN	6	90,350,785 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Zxdc	UTSW	6	90,350,698 (GRCm39)	missense	probably damaging	1.00
R0071:Zxdc	UTSW	6	90,347,398 (GRCm39)	missense	probably damaging	1.00
R0194:Zxdc	UTSW	6	90,349,519 (GRCm39)	intron	probably benign
R1065:Zxdc	UTSW	6	90,355,885 (GRCm39)	missense	probably damaging	1.00
R1377:Zxdc	UTSW	6	90,355,885 (GRCm39)	missense	probably damaging	1.00
R1405:Zxdc	UTSW	6	90,361,225 (GRCm39)	missense	possibly damaging	0.50
R1405:Zxdc	UTSW	6	90,361,225 (GRCm39)	missense	possibly damaging	0.50
R1692:Zxdc	UTSW	6	90,355,933 (GRCm39)	nonsense	probably null
R2171:Zxdc	UTSW	6	90,359,461 (GRCm39)	missense	possibly damaging	0.53
R3952:Zxdc	UTSW	6	90,347,449 (GRCm39)	splice site	probably null
R4400:Zxdc	UTSW	6	90,346,792 (GRCm39)	missense	probably damaging	1.00
R4660:Zxdc	UTSW	6	90,355,820 (GRCm39)	missense	probably damaging	0.99
R4776:Zxdc	UTSW	6	90,347,500 (GRCm39)	missense	probably damaging	1.00
R4781:Zxdc	UTSW	6	90,349,535 (GRCm39)	missense	probably damaging	0.98
R4843:Zxdc	UTSW	6	90,359,254 (GRCm39)	missense	probably damaging	1.00
R5028:Zxdc	UTSW	6	90,359,320 (GRCm39)	missense	probably benign	0.44
R5260:Zxdc	UTSW	6	90,359,075 (GRCm39)	missense	probably damaging	1.00
R5279:Zxdc	UTSW	6	90,347,419 (GRCm39)	missense	possibly damaging	0.86
R5324:Zxdc	UTSW	6	90,350,782 (GRCm39)	missense	probably damaging	1.00
R5363:Zxdc	UTSW	6	90,359,128 (GRCm39)	missense	probably damaging	0.97
R5436:Zxdc	UTSW	6	90,347,542 (GRCm39)	missense	probably damaging	0.99
R5872:Zxdc	UTSW	6	90,347,281 (GRCm39)	missense	probably damaging	0.99
R5940:Zxdc	UTSW	6	90,347,307 (GRCm39)	missense	probably damaging	1.00
R6762:Zxdc	UTSW	6	90,359,165 (GRCm39)	missense	probably benign
R7175:Zxdc	UTSW	6	90,346,645 (GRCm39)	missense	possibly damaging	0.85
R7197:Zxdc	UTSW	6	90,355,819 (GRCm39)	missense	probably damaging	0.99
R7238:Zxdc	UTSW	6	90,346,642 (GRCm39)	missense	unknown
R7247:Zxdc	UTSW	6	90,361,155 (GRCm39)	missense	unknown
R7917:Zxdc	UTSW	6	90,358,991 (GRCm39)	missense	probably damaging	1.00
R7976:Zxdc	UTSW	6	90,375,749 (GRCm39)	missense	probably benign	0.05
R8792:Zxdc	UTSW	6	90,346,986 (GRCm39)	missense	probably benign	0.00
R8917:Zxdc	UTSW	6	90,359,305 (GRCm39)	missense	probably benign	0.00
R9016:Zxdc	UTSW	6	90,359,254 (GRCm39)	missense	probably damaging	1.00
R9076:Zxdc	UTSW	6	90,349,821 (GRCm39)	missense	probably damaging	1.00
R9216:Zxdc	UTSW	6	90,359,189 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- GCTAAAGTCTCAGGTTTGTCTG -3'
(R):5'- ACCTCAGCATCCATATGGCTG -3'

Sequencing Primer
(F):5'- TGCTGGAGATTTGAACTCAGGACC -3'
(R):5'- TGGTTCCTACCTGCAGAACAG -3'

Posted On

2022-02-07