Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Def8'

406607

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

123423527-123463270 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 123456539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148280 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001522] [ENSMUST00000065534] [ENSMUST00000093049] [ENSMUST00000108830] [ENSMUST00000108832] [ENSMUST00000124741] [ENSMUST00000127664] [ENSMUST00000128424] [ENSMUST00000132063] [ENSMUST00000212391] [ENSMUST00000212883] [ENSMUST00000212827]

AlphaFold

Q99J78

Predicted Effect

probably benign
Transcript: ENSMUST00000001522

SMART Domains

Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	77	133	8e-28	BLAST
C1	148	198	4.12e-3	SMART
DUF4206	243	447	4.01e-121	SMART
C1	385	437	1.5e0	SMART
RING	399	440	4.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065534

SMART Domains

Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	65	121	7e-28	BLAST
C1	136	186	4.12e-3	SMART
DUF4206	231	435	4.01e-121	SMART
C1	373	425	1.5e0	SMART
RING	387	428	4.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093049

SMART Domains

Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	65	121	9e-28	BLAST
C1	136	186	4.12e-3	SMART
DUF4206	231	429	6.85e-106	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108830

SMART Domains

Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	65	121	7e-28	BLAST
C1	136	186	4.12e-3	SMART
DUF4206	231	435	4.01e-121	SMART
C1	373	425	1.5e0	SMART
RING	387	428	4.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108832

SMART Domains

Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	89	145	9e-28	BLAST
C1	160	210	4.12e-3	SMART
DUF4206	255	459	4.01e-121	SMART
C1	397	449	1.5e0	SMART
RING	411	452	4.86e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124741

SMART Domains

Protein: ENSMUSP00000122532
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	65	97	4e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128424

SMART Domains

Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482

Domain	Start	End	E-Value	Type
Blast:DUF4206	77	133	4e-30	BLAST
C1	148	198	4.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132063

Predicted Effect

probably benign
Transcript: ENSMUST00000212391

Predicted Effect

probably benign
Transcript: ENSMUST00000212883

Predicted Effect

probably benign
Transcript: ENSMUST00000212827

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Polrmt	A	G	10: 79,738,348	Y853H	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably damaging	Het

Other mutations in Def8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Def8	APN	8	123459650	missense	possibly damaging	0.95
IGL01896:Def8	APN	8	123459895	missense	probably benign	0.29
IGL02424:Def8	APN	8	123459648	missense	possibly damaging	0.65
IGL03218:Def8	APN	8	123456436	missense	probably damaging	1.00
defensive	UTSW	8	123454322	missense	probably damaging	1.00
PIT4495001:Def8	UTSW	8	123459553	missense	probably benign	0.00
R0003:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0117:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0119:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0135:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0138:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0141:Def8	UTSW	8	123456495	missense	probably damaging	0.98
R0408:Def8	UTSW	8	123459917	missense	probably damaging	1.00
R0636:Def8	UTSW	8	123454357	nonsense	probably null
R3890:Def8	UTSW	8	123458344	unclassified	probably benign
R3891:Def8	UTSW	8	123458344	unclassified	probably benign
R3892:Def8	UTSW	8	123458344	unclassified	probably benign
R4904:Def8	UTSW	8	123461480	missense	probably damaging	0.96
R5930:Def8	UTSW	8	123460070	unclassified	probably benign
R6088:Def8	UTSW	8	123460048	nonsense	probably null
R6577:Def8	UTSW	8	123456710	missense	probably benign	0.01
R7446:Def8	UTSW	8	123454322	missense	probably damaging	1.00
R7498:Def8	UTSW	8	123447844	missense	probably damaging	1.00
R7770:Def8	UTSW	8	123460059	missense	unknown
R7827:Def8	UTSW	8	123447321	missense	probably benign
R8186:Def8	UTSW	8	123461476	nonsense	probably null
R8256:Def8	UTSW	8	123459629	missense	probably damaging	1.00
R8399:Def8	UTSW	8	123455499	nonsense	probably null
R9026:Def8	UTSW	8	123459652	missense	probably damaging	1.00
R9230:Def8	UTSW	8	123459578	missense	probably benign	0.26
R9359:Def8	UTSW	8	123458366	missense	probably benign	0.43
Z1088:Def8	UTSW	8	123456498	missense	probably damaging	0.96
Z1176:Def8	UTSW	8	123459966	missense	possibly damaging	0.46

Posted On

2016-08-02