Mutagenetix > Incidental Mutation

Incidental Mutation 'R5704:Def6'

451885

Institutional Source

Beutler Lab

Gene Symbol

Def6

Ensembl Gene

ENSMUSG00000002257

Gene Name

differentially expressed in FDCP 6

Synonyms

SLAT, 2410003F05Rik, 6430538D02Rik, IRF-4-binding protein, IBP

MMRRC Submission

043329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28426752-28447582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28447200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 610 (D610E)

Ref Sequence

ENSEMBL: ENSMUSP00000002327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002320] [ENSMUST00000002327]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002320

SMART Domains

Protein: ENSMUSP00000002320
Gene: ENSMUSG00000002250

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
ZnF_C4	70	140	1.58e-33	SMART
Blast:HOLI	183	208	1e-6	BLAST
HOLI	250	409	1.36e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000002327
AA Change: D610E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: D610E

Domain	Start	End	E-Value	Type
low complexity region	145	166	N/A	INTRINSIC
PH	217	314	3.87e-20	SMART
coiled coil region	318	551	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166744

Meta Mutation Damage Score

0.0858

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (85/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutants spontaneously develop systemic autoimmunity. Females primarily are affected, displaying hypergammaglobulinemia, accumulation of effector/memory T cells and IgG+ B cells, and production of autoantibodies [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Acad10	A	G	5: 121,769,606 (GRCm39)	S617P	probably benign	Het
Ahi1	A	C	10: 20,950,326 (GRCm39)	M126L	probably benign	Het
Alk	T	C	17: 72,910,115 (GRCm39)	E197G	probably damaging	Het
Alyref2	A	T	1: 171,331,547 (GRCm39)	Y108F	probably damaging	Het
Ankrd26	T	G	6: 118,500,843 (GRCm39)	H876P	probably damaging	Het
Arfgef1	T	C	1: 10,229,808 (GRCm39)	T1298A	probably damaging	Het
Arhgap33	T	A	7: 30,219,045 (GRCm39)		probably benign	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
Arid1a	A	T	4: 133,409,050 (GRCm39)	V1819E	unknown	Het
Asprv1	A	G	6: 86,605,532 (GRCm39)	N126S	probably damaging	Het
Atg16l2	T	C	7: 100,949,418 (GRCm39)	Y43C	probably damaging	Het
Atp13a3	G	T	16: 30,140,697 (GRCm39)	T1160K	probably benign	Het
Atp1a3	T	C	7: 24,696,736 (GRCm39)	T272A	probably damaging	Het
Bpifa3	G	T	2: 153,979,562 (GRCm39)		probably null	Het
Bri3	T	C	5: 144,192,716 (GRCm39)	V80A	probably damaging	Het
Ccdc28a	T	A	10: 18,106,320 (GRCm39)	E2V	probably damaging	Het
Ccdc7a	T	A	8: 129,706,577 (GRCm39)		probably benign	Het
Cds2	G	A	2: 132,135,249 (GRCm39)	V47I	probably benign	Het
Cela2a	G	A	4: 141,553,299 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,406,548 (GRCm39)	Y783C	probably damaging	Het
Cmtr1	G	C	17: 29,882,217 (GRCm39)	A23P	possibly damaging	Het
Crym	C	A	7: 119,801,163 (GRCm39)		probably null	Het
Dnajc15	T	C	14: 78,063,898 (GRCm39)	Y130C	probably damaging	Het
Dock8	G	A	19: 25,151,586 (GRCm39)	V1560I	probably damaging	Het
Eif4g3	T	C	4: 137,918,003 (GRCm39)	V1501A	probably damaging	Het
Esyt1	A	G	10: 128,347,379 (GRCm39)	S1049P	probably damaging	Het
Gm4952	G	T	19: 12,604,275 (GRCm39)	R229L	probably damaging	Het
Golga5	T	A	12: 102,455,707 (GRCm39)	H548Q	probably benign	Het
Gspt1	A	T	16: 11,046,057 (GRCm39)	D449E	possibly damaging	Het
Gtf3c2	T	A	5: 31,316,454 (GRCm39)	D732V	probably damaging	Het
Hax1	T	A	3: 89,903,403 (GRCm39)	Q168L	probably damaging	Het
Hectd2	T	A	19: 36,576,291 (GRCm39)	S91T	possibly damaging	Het
Igfbp2	T	A	1: 72,891,303 (GRCm39)	H300Q	probably benign	Het
Il12rb2	T	C	6: 67,269,197 (GRCm39)	N538S	possibly damaging	Het
Insr	G	A	8: 3,235,122 (GRCm39)	P124L	possibly damaging	Het
Irak3	C	A	10: 119,981,594 (GRCm39)	R437L	probably benign	Het
Jhy	C	T	9: 40,808,734 (GRCm39)	V676I	probably damaging	Het
Kcns3	G	A	12: 11,142,328 (GRCm39)	R124C	probably benign	Het
Lactb	G	A	9: 66,863,058 (GRCm39)	R519*	probably null	Het
Mdfic	G	A	6: 15,770,291 (GRCm39)	G94D	probably damaging	Het
Mospd3	A	G	5: 137,598,613 (GRCm39)	V42A	possibly damaging	Het
Mov10	A	G	3: 104,706,912 (GRCm39)	V666A	probably benign	Het
Mucl1	T	C	15: 103,785,663 (GRCm39)	I15V	probably benign	Het
Mug1	T	A	6: 121,828,392 (GRCm39)	V268D	possibly damaging	Het
Myo5c	T	A	9: 75,180,185 (GRCm39)	S709T	probably benign	Het
Nol11	T	A	11: 107,064,195 (GRCm39)	E519V	probably benign	Het
Nrp2	A	T	1: 62,824,267 (GRCm39)	I791L	probably benign	Het
Nudt19	A	G	7: 35,250,972 (GRCm39)	Y256H	probably benign	Het
Nudt8	C	T	19: 4,050,777 (GRCm39)	R42C	probably damaging	Het
Or5ac16	A	G	16: 59,022,369 (GRCm39)	L140P	probably damaging	Het
Or6c213	T	A	10: 129,574,685 (GRCm39)	I34F	probably benign	Het
Pcdhga12	A	G	18: 37,900,422 (GRCm39)	Y418C	probably damaging	Het
Pds5a	A	G	5: 65,784,422 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,385,761 (GRCm39)	D1003G	probably benign	Het
Pglyrp4	T	A	3: 90,647,581 (GRCm39)		probably null	Het
Phip	T	C	9: 82,753,408 (GRCm39)	N1779D	probably damaging	Het
Postn	G	T	3: 54,279,527 (GRCm39)	C335F	probably damaging	Het
Ppp4r3a	T	C	12: 101,049,619 (GRCm39)		probably benign	Het
Prrt2	C	T	7: 126,618,590 (GRCm39)	V292M	probably damaging	Het
Rpl18	T	C	7: 45,370,146 (GRCm39)	V138A	possibly damaging	Het
Rps14	G	A	18: 60,910,205 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,533,956 (GRCm39)		probably null	Het
Siah2	T	G	3: 58,583,821 (GRCm39)	K155T	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc25a39	T	A	11: 102,294,220 (GRCm39)		probably benign	Het
Slco1a7	T	C	6: 141,658,980 (GRCm39)	M539V	probably benign	Het
Smok2b	T	A	17: 13,455,231 (GRCm39)	C464S	probably damaging	Het
Spata31	G	A	13: 65,069,855 (GRCm39)	V668I	probably benign	Het
Tbxas1	C	A	6: 38,998,067 (GRCm39)	H212N	probably benign	Het
Tenm1	A	G	X: 42,163,572 (GRCm39)	V107A	possibly damaging	Het
Thada	C	T	17: 84,538,329 (GRCm39)	A1560T	probably benign	Het
Tmem241	G	C	18: 12,197,263 (GRCm39)	F65L	probably damaging	Het
Ttc16	C	G	2: 32,659,137 (GRCm39)	E321Q	probably damaging	Het
Ttn	A	T	2: 76,748,929 (GRCm39)	L4040H	possibly damaging	Het
Tyw1	G	A	5: 130,310,863 (GRCm39)	W437*	probably null	Het
Unc79	T	A	12: 102,968,202 (GRCm39)	Y143N	probably damaging	Het
Urb2	C	T	8: 124,764,921 (GRCm39)	R1310W	probably damaging	Het
Vmn2r4	T	C	3: 64,317,370 (GRCm39)	I34V	probably benign	Het
Zfp513	C	T	5: 31,358,010 (GRCm39)	C121Y	possibly damaging	Het
Zfp606	T	G	7: 12,227,456 (GRCm39)	W468G	probably damaging	Het
Zfyve16	C	T	13: 92,640,979 (GRCm39)		probably null	Het

Other mutations in Def6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Def6	APN	17	28,438,714 (GRCm39)	splice site	probably benign
IGL01619:Def6	APN	17	28,426,838 (GRCm39)	missense	probably damaging	1.00
IGL01737:Def6	APN	17	28,442,701 (GRCm39)	missense	possibly damaging	0.94
IGL02550:Def6	APN	17	28,447,235 (GRCm39)	missense	probably benign	0.03
Huntsville	UTSW	17	28,438,950 (GRCm39)	missense	probably damaging	0.99
Redstone	UTSW	17	28,436,729 (GRCm39)	missense	probably damaging	1.00
Silos	UTSW	17	28,436,066 (GRCm39)	missense	probably damaging	1.00
R0013:Def6	UTSW	17	28,436,066 (GRCm39)	missense	probably damaging	1.00
R0335:Def6	UTSW	17	28,447,043 (GRCm39)	missense	possibly damaging	0.83
R0357:Def6	UTSW	17	28,442,909 (GRCm39)	missense	probably damaging	1.00
R0373:Def6	UTSW	17	28,439,154 (GRCm39)	missense	probably damaging	0.96
R1161:Def6	UTSW	17	28,436,593 (GRCm39)	missense	probably benign	0.00
R1310:Def6	UTSW	17	28,436,593 (GRCm39)	missense	probably benign	0.00
R1470:Def6	UTSW	17	28,444,956 (GRCm39)	missense	possibly damaging	0.67
R1470:Def6	UTSW	17	28,444,956 (GRCm39)	missense	possibly damaging	0.67
R1636:Def6	UTSW	17	28,442,892 (GRCm39)	missense	possibly damaging	0.95
R1778:Def6	UTSW	17	28,439,160 (GRCm39)	missense	probably benign	0.02
R2432:Def6	UTSW	17	28,447,043 (GRCm39)	missense	probably benign	0.03
R3881:Def6	UTSW	17	28,439,189 (GRCm39)	missense	probably damaging	1.00
R4402:Def6	UTSW	17	28,438,950 (GRCm39)	missense	probably damaging	0.99
R4589:Def6	UTSW	17	28,447,121 (GRCm39)	missense	probably benign
R4683:Def6	UTSW	17	28,436,609 (GRCm39)	missense	probably damaging	0.99
R6481:Def6	UTSW	17	28,445,137 (GRCm39)	missense	probably benign	0.00
R6805:Def6	UTSW	17	28,442,691 (GRCm39)	missense	probably damaging	1.00
R7029:Def6	UTSW	17	28,444,943 (GRCm39)	missense	probably benign	0.05
R7863:Def6	UTSW	17	28,446,841 (GRCm39)	missense	possibly damaging	0.62
R8229:Def6	UTSW	17	28,436,729 (GRCm39)	missense	probably damaging	1.00
R8856:Def6	UTSW	17	28,435,972 (GRCm39)	missense	probably damaging	1.00
R9297:Def6	UTSW	17	28,436,714 (GRCm39)	missense	probably damaging	1.00
R9671:Def6	UTSW	17	28,438,755 (GRCm39)	missense	probably benign	0.04
R9684:Def6	UTSW	17	28,436,044 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTTTCCCTTCTCCCAGAG -3'
(R):5'- AATCCTTGATCGGCTTTTGGTC -3'

Sequencing Primer
(F):5'- TTCTCCCAGAGCAGAGGCAC -3'
(R):5'- TCGGCAGGTGGTAGCAC -3'

Posted On

2017-01-03