Mutagenetix > Incidental Mutation

Incidental Mutation 'R8536:Plxdc1'

660788

Institutional Source

Beutler Lab

Gene Symbol

Plxdc1

Ensembl Gene

ENSMUSG00000017417

Gene Name

plexin domain containing 1

Synonyms

Tem7, 2410003I07Rik

MMRRC Submission

067890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R8536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97814064-97877270 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 97869522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017561] [ENSMUST00000107564] [ENSMUST00000107565]

AlphaFold

Q91ZV7

Predicted Effect

probably null
Transcript: ENSMUST00000017561

SMART Domains

Protein: ENSMUSP00000017561
Gene: ENSMUSG00000017417

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 null
Transcript: ENSMUST00000107564

SMART Domains

Protein: ENSMUSP00000103190
Gene: ENSMUSG00000017417

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107565

SMART Domains

Protein: ENSMUSP00000103191
Gene: ENSMUSG00000017417

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,217 (GRCm39)	V217M	probably benign	Het
Abca4	A	G	3: 121,973,394 (GRCm39)	Q1074R	probably benign	Het
Ablim1	T	C	19: 57,170,718 (GRCm39)		probably benign	Het
Acox2	A	T	14: 8,256,081 (GRCm38)	D79E	probably benign	Het
Bpifb9b	A	G	2: 154,158,197 (GRCm39)	I440V	probably benign	Het
Ccdc7a	T	A	8: 129,516,601 (GRCm39)	T118S	possibly damaging	Het
Cntln	T	C	4: 84,875,286 (GRCm39)	I240T	probably damaging	Het
Col15a1	T	C	4: 47,208,536 (GRCm39)		probably null	Het
Cox18	A	G	5: 90,362,877 (GRCm39)	F326S	probably damaging	Het
Dnm1l	C	A	16: 16,176,639 (GRCm39)	V31L	probably benign	Het
Dst	C	A	1: 34,236,327 (GRCm39)	L3578M	possibly damaging	Het
Fbxw24	G	A	9: 109,452,599 (GRCm39)	T132I	probably damaging	Het
Fchsd1	A	G	18: 38,100,823 (GRCm39)	V120A	probably benign	Het
Fibcd1	T	C	2: 31,706,643 (GRCm39)	E396G	probably damaging	Het
Fryl	G	T	5: 73,257,696 (GRCm39)	T702K	probably damaging	Het
Gatb	A	T	3: 85,511,868 (GRCm39)	I208F	probably damaging	Het
Gzmd	T	C	14: 56,367,158 (GRCm39)	I245V	probably damaging	Het
Lats2	G	A	14: 57,940,495 (GRCm39)	A119V	probably damaging	Het
Lztfl1	A	T	9: 123,540,119 (GRCm39)	F129L	probably benign	Het
Meak7	T	C	8: 120,490,787 (GRCm39)	N320S	probably benign	Het
Mmp2	A	T	8: 93,557,253 (GRCm39)	Y53F	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Ndufa8	A	C	2: 35,939,312 (GRCm39)		probably benign	Het
Nek11	A	T	9: 105,175,538 (GRCm39)	M302K	probably benign	Het
Nek6	A	G	2: 38,404,797 (GRCm39)		probably null	Het
Numa1	C	T	7: 101,650,787 (GRCm39)	A1506V	probably damaging	Het
Poteg	C	A	8: 27,938,048 (GRCm39)	T6K	probably benign	Het
Rbm26	A	T	14: 105,380,274 (GRCm39)	N514K	possibly damaging	Het
Rnf145	T	C	11: 44,450,942 (GRCm39)	L422P	probably damaging	Het
Scn5a	G	T	9: 119,368,811 (GRCm39)	T238K	probably damaging	Het
Shd	G	A	17: 56,283,315 (GRCm39)	A315T	probably damaging	Het
Sirpd	A	G	3: 15,361,614 (GRCm39)	*179R	probably null	Het
Slco5a1	T	G	1: 12,951,525 (GRCm39)	T593P	possibly damaging	Het
Stard9	G	A	2: 120,545,140 (GRCm39)	R4560H	possibly damaging	Het
Traf3ip3	C	T	1: 192,876,823 (GRCm39)		probably null	Het
Trpm1	G	C	7: 63,897,155 (GRCm39)	K252N	probably damaging	Het
Ttc7b	A	T	12: 100,339,803 (GRCm39)	I584K	possibly damaging	Het
Vmn1r218	T	C	13: 23,321,535 (GRCm39)	V214A	probably benign	Het
Wdfy3	G	T	5: 102,033,064 (GRCm39)	H2215Q	probably benign	Het
Wls	G	A	3: 159,578,748 (GRCm39)	M103I	probably damaging	Het
Zmat4	T	C	8: 24,238,523 (GRCm39)		probably null	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCCTGTTGTCCGGAAGTG -3'
(R):5'- TGCCAGATATACCTTGTCCAC -3'

Sequencing Primer
(F):5'- AAGTGTGTCGATGGCCAG -3'
(R):5'- GCCAGATATACCTTGTCCACTGTGG -3'

Posted On

2021-02-26