Mutagenetix > Incidental Mutation

Incidental Mutation 'R3890:Def8'

310342

Institutional Source

Beutler Lab

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

MMRRC Submission

040802-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R3890 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

124169725-124190009 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 124185083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001522] [ENSMUST00000065534] [ENSMUST00000093049] [ENSMUST00000108830] [ENSMUST00000108832] [ENSMUST00000127664] [ENSMUST00000128424]

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,604,700 (GRCm39)	Y201C	probably damaging	Het
Adam10	A	G	9: 70,676,136 (GRCm39)	T624A	probably benign	Het
Atf2	T	C	2: 73,693,557 (GRCm39)	S2G	probably damaging	Het
Atf7ip	T	C	6: 136,564,043 (GRCm39)	V762A	possibly damaging	Het
Cacna1e	C	T	1: 154,359,299 (GRCm39)	R265Q	probably damaging	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Clrn3	T	C	7: 135,120,194 (GRCm39)	T131A	possibly damaging	Het
Cntrl	T	G	2: 35,060,492 (GRCm39)	C1342G	probably benign	Het
Dennd4a	T	C	9: 64,779,310 (GRCm39)	S598P	probably damaging	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Ect2	T	C	3: 27,192,689 (GRCm39)	D387G	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fmo4	A	T	1: 162,621,624 (GRCm39)	I529N	probably benign	Het
Frs3	A	G	17: 48,014,360 (GRCm39)	D351G	probably damaging	Het
Gcat	T	A	15: 78,921,376 (GRCm39)	V378D	probably damaging	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Hspa4l	A	T	3: 40,736,026 (GRCm39)	Q570L	possibly damaging	Het
Ifi213	A	G	1: 173,394,822 (GRCm39)	I571T	probably benign	Het
Lsamp	T	C	16: 39,805,054 (GRCm39)	V11A	probably benign	Het
Mettl1	T	C	10: 126,880,998 (GRCm39)		probably null	Het
Mettl15	A	G	2: 109,021,924 (GRCm39)	I127T	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Mobp	G	A	9: 119,997,022 (GRCm39)	C51Y	probably damaging	Het
Ms4a3	T	C	19: 11,610,271 (GRCm39)	N97S	probably benign	Het
Myrip	A	G	9: 120,251,324 (GRCm39)	E210G	probably damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or2aj5	A	G	16: 19,425,205 (GRCm39)	I71T	probably damaging	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pdgfra	A	G	5: 75,328,588 (GRCm39)	N240S	probably null	Het
Pdxdc1	T	C	16: 13,654,312 (GRCm39)	T759A	probably benign	Het
Pex2	C	T	3: 5,626,008 (GRCm39)	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,525,616 (GRCm39)	I473T	probably damaging	Het
Prdm15	T	C	16: 97,600,771 (GRCm39)	H829R	probably damaging	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Rprd2	A	T	3: 95,672,536 (GRCm39)	F956I	probably damaging	Het
Samd1	G	A	8: 84,724,361 (GRCm39)		probably benign	Het
Slc4a11	A	T	2: 130,527,705 (GRCm39)	S592T	probably damaging	Het
Slc5a4b	A	G	10: 75,898,094 (GRCm39)	V540A	probably benign	Het
Slfn8	G	A	11: 82,895,270 (GRCm39)	T512I	possibly damaging	Het
Slx4	A	T	16: 3,797,773 (GRCm39)	I1537N	probably damaging	Het
Sorl1	G	A	9: 41,915,401 (GRCm39)	T1276M	probably damaging	Het
Specc1	C	T	11: 62,042,739 (GRCm39)	T872M	probably benign	Het
Speer4f1	T	C	5: 17,684,500 (GRCm39)	I176T	probably damaging	Het
Spint1	T	C	2: 119,079,283 (GRCm39)	I455T	probably benign	Het
Srp54a	A	G	12: 55,135,978 (GRCm39)		probably null	Het
Stoml3	T	A	3: 53,414,875 (GRCm39)	N222K	probably damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tanc2	A	T	11: 105,689,504 (GRCm39)	D222V	probably damaging	Het
Tasor2	T	C	13: 3,646,785 (GRCm39)	E80G	probably damaging	Het
Thsd7a	G	A	6: 12,418,336 (GRCm39)	S631L	probably benign	Het
Vmn2r73	G	A	7: 85,507,144 (GRCm39)	H723Y	probably benign	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het

Other mutations in Def8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00228:Def8	APN	8	124,186,389 (GRCm39)	missense	possibly damaging	0.95
IGL01896:Def8	APN	8	124,186,634 (GRCm39)	missense	probably benign	0.29
IGL02424:Def8	APN	8	124,186,387 (GRCm39)	missense	possibly damaging	0.65
IGL02982:Def8	APN	8	124,183,278 (GRCm39)	unclassified	probably benign
IGL03218:Def8	APN	8	124,183,175 (GRCm39)	missense	probably damaging	1.00
defensive	UTSW	8	124,181,061 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Def8	UTSW	8	124,186,292 (GRCm39)	missense	probably benign	0.00
R0003:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0117:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0119:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0135:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0138:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0141:Def8	UTSW	8	124,183,234 (GRCm39)	missense	probably damaging	0.98
R0408:Def8	UTSW	8	124,186,656 (GRCm39)	missense	probably damaging	1.00
R0636:Def8	UTSW	8	124,181,096 (GRCm39)	nonsense	probably null
R3891:Def8	UTSW	8	124,185,083 (GRCm39)	unclassified	probably benign
R3892:Def8	UTSW	8	124,185,083 (GRCm39)	unclassified	probably benign
R4904:Def8	UTSW	8	124,188,219 (GRCm39)	missense	probably damaging	0.96
R5930:Def8	UTSW	8	124,186,809 (GRCm39)	unclassified	probably benign
R6088:Def8	UTSW	8	124,186,787 (GRCm39)	nonsense	probably null
R6577:Def8	UTSW	8	124,183,449 (GRCm39)	missense	probably benign	0.01
R7446:Def8	UTSW	8	124,181,061 (GRCm39)	missense	probably damaging	1.00
R7498:Def8	UTSW	8	124,174,583 (GRCm39)	missense	probably damaging	1.00
R7770:Def8	UTSW	8	124,186,798 (GRCm39)	missense	unknown
R7827:Def8	UTSW	8	124,174,060 (GRCm39)	missense	probably benign
R8186:Def8	UTSW	8	124,188,215 (GRCm39)	nonsense	probably null
R8256:Def8	UTSW	8	124,186,368 (GRCm39)	missense	probably damaging	1.00
R8399:Def8	UTSW	8	124,182,238 (GRCm39)	nonsense	probably null
R9026:Def8	UTSW	8	124,186,391 (GRCm39)	missense	probably damaging	1.00
R9230:Def8	UTSW	8	124,186,317 (GRCm39)	missense	probably benign	0.26
R9359:Def8	UTSW	8	124,185,105 (GRCm39)	missense	probably benign	0.43
Z1088:Def8	UTSW	8	124,183,237 (GRCm39)	missense	probably damaging	0.96
Z1176:Def8	UTSW	8	124,186,705 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ATCCAGTGGAATTTGAGGGC -3'
(R):5'- CCAGAAGACAGGGCTCAAACTG -3'

Sequencing Primer
(F):5'- GGCACCTTCCCCAGTCC -3'
(R):5'- CAGGGCTCAAACTGCAGCTAG -3'

Posted On

2015-04-17