Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Def6'

533558

Institutional Source

Beutler Lab

Gene Symbol

Def6

Ensembl Gene

ENSMUSG00000002257

Gene Name

differentially expressed in FDCP 6

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6805 (G1)

Quality Score

158.009

Status

Validated

Chromosome

Chromosomal Location

28207778-28228608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28223717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 285 (T285A)

Ref Sequence

ENSEMBL: ENSMUSP00000002327 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002327
AA Change: T285A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: T285A

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

Meta Mutation Damage Score

0.3484

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,361,288	T263A	possibly damaging	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	probably benign	Het

Other mutations in Def6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01603:Def6	APN	17	28219740	splice site	probably benign
IGL01619:Def6	APN	17	28207864	missense	probably damaging	1.00
IGL01737:Def6	APN	17	28223727	missense	possibly damaging	0.94
IGL02550:Def6	APN	17	28228261	missense	probably benign	0.03
Huntsville	UTSW	17	28219976	missense	probably damaging	0.99
Redstone	UTSW	17	28217755	missense	probably damaging	1.00
Silos	UTSW	17	28217092	missense	probably damaging	1.00
R0013:Def6	UTSW	17	28217092	missense	probably damaging	1.00
R0335:Def6	UTSW	17	28228069	missense	possibly damaging	0.83
R0357:Def6	UTSW	17	28223935	missense	probably damaging	1.00
R0373:Def6	UTSW	17	28220180	missense	probably damaging	0.96
R1161:Def6	UTSW	17	28217619	missense	probably benign	0.00
R1310:Def6	UTSW	17	28217619	missense	probably benign	0.00
R1470:Def6	UTSW	17	28225982	missense	possibly damaging	0.67
R1470:Def6	UTSW	17	28225982	missense	possibly damaging	0.67
R1636:Def6	UTSW	17	28223918	missense	possibly damaging	0.95
R1778:Def6	UTSW	17	28220186	missense	probably benign	0.02
R2432:Def6	UTSW	17	28228069	missense	probably benign	0.03
R3881:Def6	UTSW	17	28220215	missense	probably damaging	1.00
R4402:Def6	UTSW	17	28219976	missense	probably damaging	0.99
R4589:Def6	UTSW	17	28228147	missense	probably benign
R4683:Def6	UTSW	17	28217635	missense	probably damaging	0.99
R5704:Def6	UTSW	17	28228226	missense	probably benign
R6481:Def6	UTSW	17	28226163	missense	probably benign	0.00
R7029:Def6	UTSW	17	28225969	missense	probably benign	0.05
R7863:Def6	UTSW	17	28227867	missense	possibly damaging	0.62
R8229:Def6	UTSW	17	28217755	missense	probably damaging	1.00
R8856:Def6	UTSW	17	28216998	missense	probably damaging	1.00
R9297:Def6	UTSW	17	28217740	missense	probably damaging	1.00
R9671:Def6	UTSW	17	28219781	missense	probably benign	0.04
R9684:Def6	UTSW	17	28217070	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGCATACTCCTGGCAG -3'
(R):5'- TTTCAGGTCCTTGTGCAGC -3'

Sequencing Primer
(F):5'- ATGCATACTCCTGGCAGGGTAG -3'
(R):5'- ATCGCAGTCTGGATGGCTAAG -3'

Posted On

2018-09-12