Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Def8'

647772

Institutional Source

Beutler Lab

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123423527-123463270 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 123455499 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 197 (Y197*)

Ref Sequence

ENSEMBL: ENSMUSP00000090737 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000001522
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: Y209*

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 null
Transcript: ENSMUST00000065534
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000093049
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000108830
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: Y197*

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 null
Transcript: ENSMUST00000108832
AA Change: Y221*

SMART Domains

Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: Y221*

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 null
Transcript: ENSMUST00000128424
AA Change: Y209*

SMART Domains

Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
AA Change: Y209*

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: ENSMUST00000212827

Predicted Effect

probably benign
Transcript: ENSMUST00000212883

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	probably benign	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
IGL02982:Def8	APN	8	123456539	unclassified	probably benign
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
Z1088:Def8	UTSW	8	123456498	missense	probably damaging	0.96
Z1176:Def8	UTSW	8	123459966	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TATGGACATTACAGGGAAGCC -3'
(R):5'- TTATGTAGCTGCCGTAGAGAGC -3'

Sequencing Primer
(F):5'- CATTACAGGGAAGCCAATGGTGTG -3'
(R):5'- GCCGTAGAGAGCTTTCTCACAC -3'

Posted On

2020-09-02