Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:Def6'

26230

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

038544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28207778-28228608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28228069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 558 (D558G)

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

possibly damaging
Transcript: ENSMUST00000002327
AA Change: D558G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: D558G

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

0.0726

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,301,266	E124G	possibly damaging	Het
4932438A13Rik	T	C	3: 36,969,152	V2210A	probably damaging	Het
Adamts12	G	T	15: 11,311,058	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300		probably benign	Het
Arhgap22	C	T	14: 33,359,108		probably benign	Het
Arhgap32	T	G	9: 32,259,760	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934	F256I	probably damaging	Het
Cabin1	A	T	10: 75,657,049	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985		probably benign	Het
Carmil1	G	A	13: 24,073,983	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549		probably null	Het
Clip2	T	A	5: 134,535,215		probably benign	Het
Cmip	T	C	8: 117,445,366	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956		probably benign	Het
Crybg3	A	T	16: 59,544,140	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 24,887,877	I935F	probably damaging	Het
Dapl1	T	A	2: 59,496,594	D61E	possibly damaging	Het
Dnah6	T	C	6: 73,069,399		probably benign	Het
Dvl2	G	A	11: 70,001,035		probably benign	Het
Ecd	A	C	14: 20,320,734	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472	T1350M	probably benign	Het
Erbb4	C	A	1: 68,259,259	M657I	probably benign	Het
Evi5	T	C	5: 107,812,411	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112		probably benign	Het
Gstm1	T	A	3: 108,012,696	N193I	possibly damaging	Het
Heatr5b	G	A	17: 78,827,946	P252L	probably benign	Het
Hmgb1	A	G	5: 149,050,631	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566		probably benign	Het
Lctl	C	A	9: 64,118,887	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773	I567V	probably benign	Het
Olfr111	A	C	17: 37,530,642	I222L	probably benign	Het
Olfr1340	A	G	4: 118,727,170	I308V	probably null	Het
Olfr323	T	C	11: 58,625,740	Y102C	probably damaging	Het
Olfr828	T	A	9: 18,815,994	Q100L	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Pdk4	T	C	6: 5,491,138	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715		probably null	Het
Sept2	T	C	1: 93,495,599	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206	R42L	probably damaging	Het
St14	G	A	9: 31,091,324		probably benign	Het
Stxbp1	C	T	2: 32,802,905		probably benign	Het
Tas2r131	C	T	6: 132,957,829	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742		probably benign	Het
Tmx1	A	G	12: 70,453,256	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392		probably null	Het
Top2a	T	C	11: 99,022,955	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451		probably null	Het
Vps11	T	C	9: 44,353,838	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808	G794E	probably damaging	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
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
R6805:Def6	UTSW	17	28223717	missense	probably damaging	1.00
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'- CTGGAATGTCCAGATGAACAGGCTC -3'
(R):5'- AGTCCGTAGACACAGCATCGGAAG -3'

Sequencing Primer
(F):5'- TGAACAGGCTCATGCATCCG -3'
(R):5'- TTCTTCCTGAGAGGCCAAAG -3'

Posted On

2013-04-16