Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Def8'

172388

Institutional Source

Beutler Lab

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R0003 (G1)

Quality Score

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,019,616 (GRCm39)	C439S	probably damaging	Het
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,591,038 (GRCm39)	D1247E	probably benign	Het
Alms1	T	A	6: 85,606,192 (GRCm39)	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,512,292 (GRCm39)	H310R	probably damaging	Het
Ambra1	C	T	2: 91,741,773 (GRCm39)	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,591,331 (GRCm39)	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145 (GRCm39)		probably benign	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Atp1a3	T	C	7: 24,688,989 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bicra	G	T	7: 15,705,812 (GRCm39)	T1543K	probably benign	Het
Bltp2	T	A	11: 78,177,404 (GRCm39)	V1903E	possibly damaging	Het
Bzw2	A	C	12: 36,180,014 (GRCm39)	I71S	probably damaging	Het
Camk2a	C	T	18: 61,093,079 (GRCm39)	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,485,665 (GRCm39)	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,819,164 (GRCm39)	F19Y	probably benign	Het
Clcn3	A	T	8: 61,380,330 (GRCm39)	C535*	probably null	Het
Cntnap5c	A	G	17: 58,506,012 (GRCm39)	T679A	probably benign	Het
Cpsf7	G	A	19: 10,516,993 (GRCm39)	S365N	possibly damaging	Het
Cspg4b	T	A	13: 113,505,310 (GRCm39)	S2146R	probably benign	Het
Cyp20a1	T	C	1: 60,426,285 (GRCm39)		probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Dnah12	T	C	14: 26,494,601 (GRCm39)	F1300L	probably damaging	Het
Dock1	T	C	7: 134,331,793 (GRCm39)		probably benign	Het
Dpy19l4	A	T	4: 11,267,619 (GRCm39)	N440K	probably damaging	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,831,681 (GRCm39)		probably null	Het
Fam184b	A	G	5: 45,712,536 (GRCm39)		probably benign	Het
Fcho1	A	T	8: 72,161,597 (GRCm39)	S858T	probably damaging	Het
Fgfr1	A	G	8: 26,058,214 (GRCm39)	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Gabra5	T	C	7: 57,063,476 (GRCm39)	Y316C	probably damaging	Het
Gh	A	G	11: 106,192,346 (GRCm39)	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532 (GRCm39)	I87F	probably damaging	Het
Glrb	T	A	3: 80,763,221 (GRCm39)	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651 (GRCm39)	L125P	probably damaging	Het
Grb2	A	G	11: 115,546,251 (GRCm39)	Y37H	probably damaging	Het
Haus2	G	A	2: 120,449,449 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,788,653 (GRCm39)	N749S	probably damaging	Het
Igf1r	T	C	7: 67,814,990 (GRCm39)	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,293,270 (GRCm39)	P69H	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Izumo2	C	T	7: 44,364,833 (GRCm39)	T116I	probably benign	Het
Kctd19	A	C	8: 106,121,993 (GRCm39)	Y185D	probably damaging	Het
Lama4	A	G	10: 38,936,218 (GRCm39)	N631S	possibly damaging	Het
Lama5	T	G	2: 179,819,872 (GRCm39)		probably null	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Lgr4	G	A	2: 109,828,010 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mapk9	T	A	11: 49,757,866 (GRCm39)	D103E	possibly damaging	Het
Marchf6	T	C	15: 31,469,678 (GRCm39)		probably benign	Het
Mlxipl	G	A	5: 135,162,043 (GRCm39)		probably benign	Het
Mrgbp	C	A	2: 180,225,231 (GRCm39)	D62E	probably benign	Het
Mtap	A	T	4: 89,070,235 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Naa25	T	G	5: 121,545,247 (GRCm39)		probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,253,852 (GRCm39)	C73R	probably benign	Het
Nup210l	T	C	3: 90,027,218 (GRCm39)	I200T	probably damaging	Het
Nvl	C	A	1: 180,941,698 (GRCm39)	D581Y	probably damaging	Het
Or51a6	T	C	7: 102,604,185 (GRCm39)	M208V	probably benign	Het
Or51f2	T	C	7: 102,527,068 (GRCm39)	V247A	probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or8b1c	A	G	9: 38,384,612 (GRCm39)	T190A	probably benign	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,740,836 (GRCm39)		probably null	Het
Plekhh2	A	T	17: 84,864,820 (GRCm39)	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Rrad	A	C	8: 105,355,299 (GRCm39)	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,246,533 (GRCm39)	A236T	probably benign	Het
Ryr2	C	A	13: 11,839,265 (GRCm39)	D503Y	probably damaging	Het
Siglec1	T	C	2: 130,916,980 (GRCm39)	T1092A	probably benign	Het
Siglecf	A	G	7: 43,005,350 (GRCm39)	T437A	probably benign	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,999,299 (GRCm39)	S358T	possibly damaging	Het
Trim25	G	T	11: 88,906,598 (GRCm39)	V437L	probably benign	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,536,912 (GRCm39)	S303R	probably benign	Het
Ush2a	T	A	1: 188,310,688 (GRCm39)	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 20,032,241 (GRCm39)	T672A	probably damaging	Het
Wdr11	G	T	7: 129,200,785 (GRCm39)	G79C	probably damaging	Het
Wdr89	T	A	12: 75,679,367 (GRCm39)	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,930,402 (GRCm39)	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,622,217 (GRCm39)	C381R	probably damaging	Het
Zim1	A	G	7: 6,679,947 (GRCm39)	I572T	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
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
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

2014-04-23