Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03169:Plxdc1'

411769

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 #

IGL03169

Quality Score

Status

Chromosome

Chromosomal Location

97814064-97877270 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97823146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 358 (E358G)

Ref Sequence

ENSEMBL: ENSMUSP00000017561 (fasta)

Gene Model

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

AlphaFold

Q91ZV7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017561
AA Change: E358G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417
AA Change: E358G

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

possibly damaging
Transcript: ENSMUST00000107565
AA Change: E365G

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417
AA Change: E365G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141708

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	A	T	8: 84,658,624 (GRCm39)	I548F	probably damaging	Het
Adgrv1	T	A	13: 81,652,019 (GRCm39)	Q2995L	probably damaging	Het
Capn9	T	C	8: 125,332,616 (GRCm39)	I485T	probably damaging	Het
Ccdc17	T	A	4: 116,454,957 (GRCm39)	I197N	probably damaging	Het
Chl1	T	A	6: 103,642,928 (GRCm39)	L222Q	probably damaging	Het
Ctla4	T	C	1: 60,953,764 (GRCm39)		probably benign	Het
Cyp2d12	T	C	15: 82,443,492 (GRCm39)	S485P	probably benign	Het
Ddx50	A	T	10: 62,457,166 (GRCm39)		probably null	Het
Dlgap4	C	A	2: 156,552,938 (GRCm39)		probably null	Het
Dpysl4	G	A	7: 138,679,826 (GRCm39)		probably null	Het
Erbin	T	C	13: 103,977,740 (GRCm39)	M606V	possibly damaging	Het
Fat4	T	G	3: 39,011,547 (GRCm39)	S2216A	probably benign	Het
Frem2	T	C	3: 53,429,713 (GRCm39)	N2779S	probably benign	Het
Fut1	T	C	7: 45,268,457 (GRCm39)	V82A	probably benign	Het
Gnb1l	C	T	16: 18,359,205 (GRCm39)	A2V	probably damaging	Het
Hdac1	C	T	4: 129,412,624 (GRCm39)	E327K	probably null	Het
Hdlbp	A	G	1: 93,344,309 (GRCm39)	V819A	possibly damaging	Het
Ift122	T	C	6: 115,882,922 (GRCm39)		probably benign	Het
Iqgap2	T	C	13: 95,867,785 (GRCm39)		probably null	Het
Kntc1	T	C	5: 123,913,884 (GRCm39)	V613A	possibly damaging	Het
Lamb1	T	C	12: 31,373,645 (GRCm39)	V1458A	probably damaging	Het
Lef1	A	G	3: 130,988,312 (GRCm39)	K265R	probably damaging	Het
Lrp2	T	C	2: 69,353,538 (GRCm39)	D574G	probably damaging	Het
Mterf2	C	T	10: 84,956,324 (GRCm39)	R100H	probably benign	Het
Nr1d2	C	T	14: 18,216,703 (GRCm38)	R155Q	probably damaging	Het
Obscn	T	C	11: 58,964,122 (GRCm39)	T3304A	probably damaging	Het
Or2j3	G	T	17: 38,615,992 (GRCm39)	S120Y	probably damaging	Het
Or4a78	A	G	2: 89,497,831 (GRCm39)	I133T	possibly damaging	Het
Os9	G	A	10: 126,934,463 (GRCm39)	T391M	probably benign	Het
Parp6	C	A	9: 59,557,300 (GRCm39)	Y131*	probably null	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Ptprc	A	T	1: 138,041,357 (GRCm39)	S167R	probably benign	Het
Rad54l2	T	C	9: 106,596,263 (GRCm39)	D225G	probably benign	Het
Rgs7	T	C	1: 175,098,401 (GRCm39)	I53V	possibly damaging	Het
Rpa1	T	C	11: 75,192,183 (GRCm39)	D607G	probably damaging	Het
Shisa5	T	A	9: 108,885,560 (GRCm39)	H213Q	probably damaging	Het
Syncrip	A	G	9: 88,338,496 (GRCm39)		probably benign	Het
Taf4b	T	G	18: 14,954,592 (GRCm39)	V556G	probably damaging	Het
Tgif1	A	C	17: 71,151,836 (GRCm39)	S258R	possibly damaging	Het
Tmem106a	T	C	11: 101,481,284 (GRCm39)		probably benign	Het
Vmn1r113	A	T	7: 20,522,012 (GRCm39)	H268L	probably benign	Het
Vmn1r40	A	T	6: 89,692,005 (GRCm39)	Q274L	probably damaging	Het
Wdr70	A	C	15: 7,913,821 (GRCm39)	I609M	possibly damaging	Het
Wdr91	G	A	6: 34,882,426 (GRCm39)	S241L	possibly damaging	Het
Zfyve9	T	C	4: 108,553,022 (GRCm39)	Y713C	probably damaging	Het

Other mutations in Plxdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01896:Plxdc1	APN	11	97,815,408 (GRCm39)	missense	probably damaging	0.98
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
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

2016-08-02