Mutagenetix > Incidental Mutation

Incidental Mutation 'R0636:Def8'

56686

Institutional Source

Beutler Lab

Gene Symbol

Def8

Ensembl Gene

ENSMUSG00000001482

Gene Name

differentially expressed in FDCP 8

Synonyms

D8Ertd713e

MMRRC Submission

038825-MU

Accession Numbers

Essential gene?

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

Stock #

R0636 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124169725-124190009 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 124181096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 176 (W176*)

Ref Sequence

ENSEMBL: ENSMUSP00000115137 (fasta)

Gene Model

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

AlphaFold

Q99J78

Predicted Effect

probably null
Transcript: ENSMUST00000001522
AA Change: W176*

SMART Domains

Protein: ENSMUSP00000001522
Gene: ENSMUSG00000001482
AA Change: W176*

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: W164*

SMART Domains

Protein: ENSMUSP00000070579
Gene: ENSMUSG00000001482
AA Change: W164*

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: W164*

SMART Domains

Protein: ENSMUSP00000090737
Gene: ENSMUSG00000001482
AA Change: W164*

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: W164*

SMART Domains

Protein: ENSMUSP00000104458
Gene: ENSMUSG00000001482
AA Change: W164*

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: W188*

SMART Domains

Protein: ENSMUSP00000104460
Gene: ENSMUSG00000001482
AA Change: W188*

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: W176*

SMART Domains

Protein: ENSMUSP00000115137
Gene: ENSMUSG00000001482
AA Change: W176*

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: ENSMUST00000212827

Predicted Effect

probably benign
Transcript: ENSMUST00000212883

Predicted Effect

probably benign
Transcript: ENSMUST00000212391

Predicted Effect

probably benign
Transcript: ENSMUST00000132063

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

96% (74/77)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,088,414 (GRCm39)	Y264C	probably damaging	Het
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Aco1	A	G	4: 40,175,697 (GRCm39)	E146G	probably damaging	Het
Adam2	T	G	14: 66,272,265 (GRCm39)	D639A	probably benign	Het
Adh4	G	T	3: 138,133,835 (GRCm39)	R315L	probably damaging	Het
Adprhl1	T	C	8: 13,298,702 (GRCm39)	D76G	probably damaging	Het
Akip1	T	C	7: 109,306,726 (GRCm39)		probably benign	Het
Ap3d1	T	A	10: 80,555,216 (GRCm39)	K370*	probably null	Het
Arfgef1	C	A	1: 10,270,076 (GRCm39)	V358L	probably benign	Het
Arpp21	A	T	9: 112,012,566 (GRCm39)	D85E	probably benign	Het
Azi2	A	T	9: 117,891,125 (GRCm39)	L383F	probably benign	Het
Bpgm	T	A	6: 34,481,222 (GRCm39)	D206E	probably benign	Het
Bsn	T	C	9: 107,985,033 (GRCm39)	D3007G	unknown	Het
Ccdc142	T	G	6: 83,084,179 (GRCm39)		probably benign	Het
Cep135	T	C	5: 76,763,504 (GRCm39)	V498A	probably benign	Het
Cntn6	A	T	6: 104,840,109 (GRCm39)	Q1003L	probably benign	Het
Cntnap2	T	A	6: 47,273,642 (GRCm39)		probably benign	Het
Csf2rb2	G	A	15: 78,176,160 (GRCm39)	Q139*	probably null	Het
Cyp3a16	A	G	5: 145,399,895 (GRCm39)	V101A	probably benign	Het
D630045J12Rik	T	C	6: 38,173,713 (GRCm39)	T152A	probably benign	Het
Dgkg	A	G	16: 22,398,479 (GRCm39)		probably benign	Het
Ear10	T	C	14: 44,160,451 (GRCm39)		probably null	Het
Fbxw2	A	T	2: 34,712,859 (GRCm39)	Y67*	probably null	Het
Flii	T	A	11: 60,606,378 (GRCm39)	Y1104F	probably damaging	Het
Gm973	G	A	1: 59,590,303 (GRCm39)	R270K	probably benign	Het
Gnl3	T	A	14: 30,739,110 (GRCm39)	K75N	probably damaging	Het
Gpc6	A	T	14: 117,861,905 (GRCm39)	M274L	probably benign	Het
Ifi47	A	G	11: 48,987,478 (GRCm39)	E415G	possibly damaging	Het
Ift57	A	G	16: 49,532,259 (GRCm39)	T130A	probably benign	Het
Itpr2	T	A	6: 146,072,910 (GRCm39)	D2373V	probably damaging	Het
Kat6a	T	C	8: 23,429,339 (GRCm39)	S1565P	possibly damaging	Het
Klhl6	A	T	16: 19,766,823 (GRCm39)		probably benign	Het
Klra2	T	C	6: 131,197,067 (GRCm39)		probably benign	Het
Lama5	A	G	2: 179,831,124 (GRCm39)		probably null	Het
Mapk4	A	G	18: 74,063,525 (GRCm39)	S566P	probably benign	Het
Mindy4	C	A	6: 55,253,570 (GRCm39)	R480S	possibly damaging	Het
Mterf3	T	C	13: 67,070,817 (GRCm39)		probably benign	Het
Mtmr2	A	G	9: 13,713,209 (GRCm39)		probably null	Het
Myef2l	T	C	3: 10,153,843 (GRCm39)	L204P	possibly damaging	Het
Naip5	T	C	13: 100,356,196 (GRCm39)	T1140A	probably benign	Het
Nf1	A	G	11: 79,426,529 (GRCm39)	T1648A	probably damaging	Het
Nlk	A	T	11: 78,586,670 (GRCm39)	D141E	probably benign	Het
Noxa1	C	A	2: 24,976,106 (GRCm39)		probably benign	Het
Or4g16	A	G	2: 111,136,757 (GRCm39)	N69S	probably benign	Het
Or5b121	A	T	19: 13,507,613 (GRCm39)	Y236F	possibly damaging	Het
Or5p55	T	C	7: 107,566,679 (GRCm39)	V25A	probably benign	Het
Otog	G	A	7: 45,913,652 (GRCm39)		probably null	Het
Pebp4	T	C	14: 70,285,796 (GRCm39)		probably benign	Het
Phgdh	G	T	3: 98,240,607 (GRCm39)	N100K	possibly damaging	Het
Pnisr	T	A	4: 21,873,800 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,702,242 (GRCm39)	H346R	probably benign	Het
Rsf1	T	C	7: 97,311,226 (GRCm39)	V652A	possibly damaging	Het
Rubcn	G	A	16: 32,649,056 (GRCm39)	H624Y	probably damaging	Het
Semp2l2a	T	C	8: 13,887,870 (GRCm39)	R74G	probably benign	Het
Setdb2	T	C	14: 59,644,153 (GRCm39)	N656D	probably benign	Het
Slc22a23	T	C	13: 34,483,076 (GRCm39)	T268A	probably benign	Het
Slc3a1	A	T	17: 85,340,222 (GRCm39)	T215S	possibly damaging	Het
Srsf2	A	G	11: 116,742,904 (GRCm39)	S206P	probably benign	Het
Susd2	T	A	10: 75,475,184 (GRCm39)	D542V	probably damaging	Het
Svep1	G	A	4: 58,073,121 (GRCm39)	Q2063*	probably null	Het
Syne2	G	A	12: 75,977,757 (GRCm39)	V1401M	possibly damaging	Het
Tenm2	A	G	11: 36,834,803 (GRCm39)	L64P	probably damaging	Het
Tigd2	A	G	6: 59,188,272 (GRCm39)	T380A	possibly damaging	Het
Trmt12	G	T	15: 58,745,834 (GRCm39)	V411F	probably damaging	Het
Ubr4	T	C	4: 139,163,613 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,554,935 (GRCm39)	C3571Y	probably benign	Het
Usp8	A	G	2: 126,562,030 (GRCm39)	M75V	possibly damaging	Het
Vcan	C	T	13: 89,852,825 (GRCm39)	D712N	probably damaging	Het
Vcan	C	A	13: 89,860,386 (GRCm39)	R327L	probably damaging	Het
Vps8	A	G	16: 21,253,683 (GRCm39)	E8G	probably benign	Het
Washc5	T	C	15: 59,231,258 (GRCm39)	D335G	probably benign	Het
Zbtb39	A	G	10: 127,578,704 (GRCm39)	N426S	probably benign	Het
Zfp184	T	A	13: 22,133,919 (GRCm39)	D55E	probably damaging	Het
Zfp882	T	C	8: 72,668,181 (GRCm39)	V336A	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
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
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'- GAGCTGCTGCTTACCTCACCTATG -3'
(R):5'- TAGAGAGATGCCCTTGGTCACCTC -3'

Sequencing Primer
(F):5'- ACCTCACCTATGACTTTTCCATTG -3'
(R):5'- accacatccttcctctttacatatac -3'

Posted On

2013-07-11