Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01896:Plxdc1'

179393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plxdc1

Ensembl Gene

ENSMUSG00000017417

Gene Name

plexin domain containing 1

Synonyms

Tem7, 2410003I07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL01896

Quality Score

Status

Chromosome

Chromosomal Location

97814064-97877270 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97815408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 470 (M470K)

Ref Sequence

ENSEMBL: ENSMUSP00000017561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107565]

AlphaFold

Q91ZV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000017561
AA Change: M470K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: M470K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PSI	304	349	5.98e-2	SMART
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107565
AA Change: M477K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: M477K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PSI	311	356	5.98e-2	SMART
transmembrane domain	432	454	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,101,154 (GRCm39)	F509Y	possibly damaging	Het
Acot11	T	A	4: 106,628,564 (GRCm39)	I75F	probably damaging	Het
Atp1a2	T	A	1: 172,113,578 (GRCm39)	N427Y	probably damaging	Het
Cd19	T	C	7: 126,013,522 (GRCm39)	D89G	possibly damaging	Het
Clca3a1	T	A	3: 144,721,438 (GRCm39)	T378S	possibly damaging	Het
Cltc	A	T	11: 86,615,959 (GRCm39)	C436S	probably damaging	Het
Def8	G	A	8: 124,186,634 (GRCm39)	V429M	probably benign	Het
Dnah9	A	T	11: 66,021,492 (GRCm39)	D311E	possibly damaging	Het
Dpy19l4	T	C	4: 11,267,752 (GRCm39)	K396R	possibly damaging	Het
Eif4b	T	C	15: 102,003,721 (GRCm39)	S597P	probably benign	Het
Ezh1	A	T	11: 101,104,581 (GRCm39)	N155K	probably benign	Het
Glud1	A	G	14: 34,041,862 (GRCm39)	S157G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5600	T	C	7: 113,307,221 (GRCm39)		noncoding transcript	Het
Hnf4g	T	A	3: 3,716,470 (GRCm39)	V298E	probably damaging	Het
Hspd1	C	T	1: 55,118,268 (GRCm39)	R446Q	probably benign	Het
Lyst	A	G	13: 13,810,162 (GRCm39)	I611V	probably benign	Het
Map4k3	T	C	17: 80,921,360 (GRCm39)	E524G	probably benign	Het
Mepe	A	G	5: 104,486,135 (GRCm39)	D425G	possibly damaging	Het
Myo1a	G	T	10: 127,555,773 (GRCm39)	V921L	probably benign	Het
Prim1	A	G	10: 127,858,758 (GRCm39)	Y222C	probably damaging	Het
Ptpn13	A	G	5: 103,649,389 (GRCm39)	N264S	possibly damaging	Het
Qrsl1	T	C	10: 43,752,500 (GRCm39)	D441G	probably benign	Het
Samd9l	G	T	6: 3,375,120 (GRCm39)	Q714K	probably benign	Het
Scrib	T	C	15: 75,937,967 (GRCm39)	E293G	possibly damaging	Het
Slc12a2	T	A	18: 58,029,380 (GRCm39)	N255K	probably benign	Het
Slc6a6	T	C	6: 91,703,050 (GRCm39)	I141T	probably damaging	Het
Slc9a1	T	C	4: 133,145,370 (GRCm39)	L485P	probably damaging	Het
Slfn8	A	T	11: 82,894,522 (GRCm39)	Y706N	probably damaging	Het
Tlr5	T	C	1: 182,802,444 (GRCm39)	F583L	possibly damaging	Het
Tmprss15	A	G	16: 78,887,678 (GRCm39)	V43A	probably benign	Het
Ttc24	T	C	3: 87,977,720 (GRCm39)		probably null	Het
Ttc7	A	G	17: 87,666,552 (GRCm39)	T606A	probably damaging	Het
Ubap2	G	T	4: 41,202,362 (GRCm39)	P689T	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wfdc8	A	T	2: 164,447,700 (GRCm39)	M120K	probably damaging	Het

Other mutations in Plxdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02490:Plxdc1	APN	11	97,845,604 (GRCm39)	missense	probably benign	0.17
IGL02568:Plxdc1	APN	11	97,869,390 (GRCm39)	missense	probably damaging	1.00
IGL02618:Plxdc1	APN	11	97,823,130 (GRCm39)	missense	probably benign
IGL03169:Plxdc1	APN	11	97,823,146 (GRCm39)	missense	possibly damaging	0.80
R0200:Plxdc1	UTSW	11	97,824,838 (GRCm39)	missense	probably damaging	1.00
R0627:Plxdc1	UTSW	11	97,823,030 (GRCm39)	splice site	probably null
R1510:Plxdc1	UTSW	11	97,823,150 (GRCm39)	missense	probably damaging	1.00
R2144:Plxdc1	UTSW	11	97,824,838 (GRCm39)	missense	probably damaging	1.00
R5334:Plxdc1	UTSW	11	97,846,931 (GRCm39)	missense	possibly damaging	0.87
R6084:Plxdc1	UTSW	11	97,819,289 (GRCm39)	missense	probably damaging	1.00
R6243:Plxdc1	UTSW	11	97,846,299 (GRCm39)	missense	probably damaging	1.00
R6305:Plxdc1	UTSW	11	97,829,416 (GRCm39)	missense	probably damaging	1.00
R7224:Plxdc1	UTSW	11	97,823,153 (GRCm39)	missense	possibly damaging	0.88
R7574:Plxdc1	UTSW	11	97,847,316 (GRCm39)	missense	possibly damaging	0.89
R7633:Plxdc1	UTSW	11	97,846,977 (GRCm39)	missense	possibly damaging	0.95
R7909:Plxdc1	UTSW	11	97,823,130 (GRCm39)	missense	probably benign
R8056:Plxdc1	UTSW	11	97,869,343 (GRCm39)	missense	probably damaging	0.99
R8536:Plxdc1	UTSW	11	97,869,522 (GRCm39)	splice site	probably null
R8754:Plxdc1	UTSW	11	97,846,337 (GRCm39)	missense	possibly damaging	0.80
R8796:Plxdc1	UTSW	11	97,847,407 (GRCm39)	missense	probably benign	0.02
R9189:Plxdc1	UTSW	11	97,844,788 (GRCm39)	missense	probably benign
R9450:Plxdc1	UTSW	11	97,845,681 (GRCm39)	missense	probably damaging	0.98
R9583:Plxdc1	UTSW	11	97,824,844 (GRCm39)	missense	probably damaging	1.00
RF007:Plxdc1	UTSW	11	97,869,504 (GRCm39)	missense	probably benign	0.30

Posted On

2014-05-07