Mutagenetix > Incidental Mutation

Incidental Mutation 'R0119:Def8'

60567

Institutional Source

Beutler Lab

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

MMRRC Submission

038405-MU

Accession Numbers

Essential gene?

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

Stock #

R0119 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

124169725-124190009 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124183234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 278 (A278T)

Ref Sequence

ENSEMBL: ENSMUSP00000104460 (fasta)

Gene Model

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

AlphaFold

Q99J78

Predicted Effect

probably damaging
Transcript: ENSMUST00000001522
AA Change: A266T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: A266T

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

possibly damaging
Transcript: ENSMUST00000065534
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: A254T

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

possibly damaging
Transcript: ENSMUST00000093049
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: A254T

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

possibly damaging
Transcript: ENSMUST00000108830
AA Change: A254T

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: A254T

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 damaging
Transcript: ENSMUST00000108832
AA Change: A278T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: A278T

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: ENSMUST00000212391

Predicted Effect

probably benign
Transcript: ENSMUST00000212827

Predicted Effect

probably benign
Transcript: ENSMUST00000212883

Predicted Effect

probably benign
Transcript: ENSMUST00000132063

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

0.8511

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.2%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	G	A	18: 70,602,553 (GRCm39)	Q87*	probably null	Het
Abca13	G	A	11: 9,248,076 (GRCm39)	E2608K	probably benign	Het
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adamts18	A	G	8: 114,501,585 (GRCm39)	I346T	possibly damaging	Het
Adcy8	T	A	15: 64,588,015 (GRCm39)	D894V	probably damaging	Het
Ap3d1	A	G	10: 80,559,449 (GRCm39)		probably benign	Het
Arg2	A	G	12: 79,194,386 (GRCm39)	D70G	probably damaging	Het
Cap1	A	T	4: 122,761,492 (GRCm39)	L130Q	probably damaging	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Caskin2	A	G	11: 115,693,253 (GRCm39)		probably benign	Het
Cd69	C	T	6: 129,247,025 (GRCm39)	S64N	probably benign	Het
Cd96	T	C	16: 45,858,942 (GRCm39)		probably benign	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1c	A	T	8: 93,833,345 (GRCm39)		probably benign	Het
Ces1c	A	T	8: 93,834,238 (GRCm39)	L351M	probably benign	Het
Cnih3	T	A	1: 181,282,309 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Cry1	A	G	10: 84,969,104 (GRCm39)		probably null	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Defb13	T	C	8: 22,436,877 (GRCm39)		probably benign	Het
Dnah1	C	T	14: 30,998,115 (GRCm39)	G2574D	probably damaging	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Elmo3	T	C	8: 106,036,400 (GRCm39)	L668S	probably damaging	Het
Elp2	T	C	18: 24,767,466 (GRCm39)	I716T	probably benign	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm6327	T	C	16: 12,579,061 (GRCm39)		noncoding transcript	Het
Gm839	A	T	6: 89,189,362 (GRCm39)		noncoding transcript	Het
Gng5	T	A	3: 146,209,048 (GRCm39)	C39S	probably damaging	Het
Gpr55	C	T	1: 85,869,146 (GRCm39)	W145*	probably null	Het
Hdlbp	A	C	1: 93,349,059 (GRCm39)		probably benign	Het
Man2a2	G	T	7: 80,017,153 (GRCm39)	N305K	probably damaging	Het
Me2	A	G	18: 73,903,744 (GRCm39)	S575P	probably benign	Het
Mier3	T	C	13: 111,851,572 (GRCm39)	V490A	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Muc4	A	T	16: 32,569,013 (GRCm39)		probably benign	Het
Mug2	T	A	6: 122,013,022 (GRCm39)	H311Q	probably benign	Het
Neto1	G	A	18: 86,479,445 (GRCm39)	R211Q	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nisch	A	G	14: 30,893,881 (GRCm39)	Y1231H	probably damaging	Het
Obox3	T	A	7: 15,360,252 (GRCm39)		probably null	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or1e34	C	T	11: 73,778,656 (GRCm39)	V181I	probably benign	Het
Pcdh15	T	C	10: 74,006,407 (GRCm39)	F95S	probably damaging	Het
Pcsk6	T	C	7: 65,688,791 (GRCm39)	V820A	probably benign	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Pdgfrb	T	A	18: 61,201,924 (GRCm39)	V496E	probably benign	Het
Per3	A	G	4: 151,109,005 (GRCm39)		probably benign	Het
Pip4k2b	A	T	11: 97,613,762 (GRCm39)		probably benign	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Rad21	A	T	15: 51,828,426 (GRCm39)	D547E	probably benign	Het
Rere	T	G	4: 150,699,779 (GRCm39)		probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Sh3bgrl3	A	T	4: 133,855,347 (GRCm39)	I33N	probably damaging	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Sppl3	T	A	5: 115,227,053 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,223,605 (GRCm39)	Q116K	probably damaging	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tnpo3	A	G	6: 29,568,921 (GRCm39)	V477A	possibly damaging	Het
Trim7	G	T	11: 48,740,539 (GRCm39)	R212L	probably damaging	Het
Trpm6	T	A	19: 18,809,957 (GRCm39)	C1118S	probably benign	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Vmn1r27	A	G	6: 58,192,704 (GRCm39)	F100S	possibly damaging	Het
Zbtb18	A	G	1: 177,275,723 (GRCm39)	E361G	probably benign	Het
Zzef1	T	C	11: 72,712,677 (GRCm39)	V199A	probably benign	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
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
R3890:Def8	UTSW	8	124,185,083 (GRCm39)	unclassified	probably benign
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'- TCATTGGGAGAACCCCTAGCACAG -3'
(R):5'- TAGCTGAGTGACCAGCTTGCAGAG -3'

Sequencing Primer
(F):5'- AGATCCATACGATGTGAGTCCTTG -3'
(R):5'- CAGCTTGCAGAGCTAGGACTG -3'

Posted On

2013-07-24