Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Def6'

342707

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28426752-28447582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28447121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 584 (R584L)

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: R584L

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

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: R584L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	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
R4683:Def6	UTSW	17	28,436,609 (GRCm39)	missense	probably damaging	0.99
R5704:Def6	UTSW	17	28,447,200 (GRCm39)	missense	probably benign
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'- GAACTGAAGGTCAAAGGTTTCCC -3'
(R):5'- TGGTAGCACCAGGAATCACC -3'

Sequencing Primer
(F):5'- TCCCTTCTCCCAGAGCAGAG -3'
(R):5'- AGTCCGTAGACACAGCATCGG -3'

Posted On

2015-09-24