Mutagenetix > Incidental Mutation

Incidental Mutation 'R1778:Def6'

197286

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

039809-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28207778-28228608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 28220186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 257 (R257Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002327 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002327
AA Change: R257Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: R257Q

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

98% (107/109)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810043G02Rik	G	T	10: 77,982,944	A150S	probably benign	Het
4930432E11Rik	T	C	7: 29,560,706		noncoding transcript	Het
4930568D16Rik	A	G	2: 35,354,983	M119T	probably damaging	Het
Aadacl2	A	G	3: 60,017,450		probably null	Het
Abca9	C	T	11: 110,130,716	W1056*	probably null	Het
Adam20	A	C	8: 40,796,661	T603P	possibly damaging	Het
Adgrl1	T	C	8: 83,930,037	L323P	probably damaging	Het
Afap1l2	C	T	19: 56,916,206	E628K	possibly damaging	Het
Ahctf1	A	T	1: 179,753,015	L1874Q	possibly damaging	Het
Ak8	A	G	2: 28,712,321	E89G	probably benign	Het
Aldh16a1	G	A	7: 45,147,308	R256C	probably damaging	Het
Anxa5	G	A	3: 36,465,331	T3M	probably damaging	Het
Arhgef16	T	C	4: 154,287,986	K210E	probably benign	Het
Armc4	A	T	18: 7,127,388	C942S	probably damaging	Het
Baz2b	T	C	2: 60,006,136	T18A	unknown	Het
BC037034	T	C	5: 138,262,477		probably null	Het
Bub1	A	C	2: 127,803,122	I960M	possibly damaging	Het
Cbln2	G	T	18: 86,713,147	D27Y	probably benign	Het
Ces2h	C	A	8: 105,014,607	P77Q	possibly damaging	Het
Chga	T	A	12: 102,561,700	M150K	probably benign	Het
Chmp3	A	G	6: 71,577,807	E162G	probably benign	Het
Clip3	A	G	7: 30,297,436	N161S	probably damaging	Het
Col12a1	T	A	9: 79,604,585		probably benign	Het
Cuedc2	C	T	19: 46,331,640	G105D	probably benign	Het
Cyp2j7	A	C	4: 96,199,390	F428V	probably damaging	Het
Ddx60	A	G	8: 61,974,176	I762V	possibly damaging	Het
Dkkl1	A	T	7: 45,211,395		probably null	Het
Dnah3	A	G	7: 120,078,402	L433P	probably damaging	Het
Eif2s3y	C	T	Y: 1,011,287	R33C	probably benign	Het
Elavl2	T	A	4: 91,253,478	Y269F	probably damaging	Het
Esco2	A	G	14: 65,831,262	S200P	possibly damaging	Het
Fam213b	A	T	4: 154,897,357	V151D	probably damaging	Het
Fcrl1	T	A	3: 87,385,319		probably benign	Het
Fhod1	C	A	8: 105,329,677	D1135Y	probably damaging	Het
Fnbp1l	T	C	3: 122,590,147	N41D	possibly damaging	Het
Folh1	A	T	7: 86,761,699		probably null	Het
Fpr-rs7	T	C	17: 20,114,015	D71G	probably damaging	Het
Gm10271	A	G	10: 116,961,939		probably benign	Het
Gm4841	A	T	18: 60,270,948	Y24*	probably null	Het
Gm9825	A	T	6: 7,983,124		noncoding transcript	Het
Greb1	G	A	12: 16,690,894	R1396C	probably benign	Het
Hectd1	C	T	12: 51,753,807	C2076Y	probably damaging	Het
Hnrnpu	A	G	1: 178,325,241		probably benign	Het
Ice2	T	C	9: 69,415,648	I475T	probably benign	Het
Ifit1bl1	T	A	19: 34,594,193	Q288L	probably damaging	Het
Ik	T	C	18: 36,756,818		probably benign	Het
Kidins220	C	T	12: 25,013,446		probably benign	Het
Kmt2c	T	C	5: 25,372,974	D768G	probably benign	Het
Kmt2e	A	G	5: 23,492,364	T87A	probably damaging	Het
Lama5	G	A	2: 180,195,481		probably benign	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Lrig2	A	G	3: 104,467,366		probably benign	Het
Lrig3	A	G	10: 126,010,075	D791G	probably damaging	Het
Lrrc2	G	A	9: 110,980,840	V315M	probably benign	Het
Lrrc4b	A	G	7: 44,462,399	D565G	probably benign	Het
Mpped1	C	T	15: 83,791,990		probably benign	Het
Msrb2	T	A	2: 19,383,303	D87E	probably benign	Het
Muc20	T	C	16: 32,794,141	T289A	possibly damaging	Het
Myo15	C	A	11: 60,478,412	P666Q	possibly damaging	Het
Nfat5	C	T	8: 107,361,789	P579L	probably damaging	Het
Nipbl	A	C	15: 8,319,488	M1920R	probably damaging	Het
Nuak1	T	C	10: 84,374,874		probably null	Het
Nup210l	A	G	3: 90,189,486	E1334G	probably damaging	Het
Olfr12	G	A	1: 92,620,620	G238E	possibly damaging	Het
Olfr1410	A	T	1: 92,608,109	N91Y	possibly damaging	Het
Olfr262	T	A	19: 12,241,455	I69F	probably benign	Het
Olfr675	A	T	7: 105,024,163	N272K	probably benign	Het
Olfr804	T	C	10: 129,705,705	Y276H	probably benign	Het
P4ha3	A	T	7: 100,300,691		probably null	Het
Pbld2	C	T	10: 63,054,371	A186V	probably benign	Het
Pcdh18	A	T	3: 49,755,634	Y411N	probably benign	Het
Pgf	A	G	12: 85,171,767	S70P	probably benign	Het
Phrf1	T	A	7: 141,232,456	D44E	probably benign	Het
Pla2g4a	A	G	1: 149,902,445		probably benign	Het
Plce1	A	G	19: 38,780,790		probably benign	Het
Plxna2	A	G	1: 194,810,970	N1851S	probably benign	Het
Prl7a2	G	A	13: 27,659,271	T183I	probably damaging	Het
Ptger4	A	T	15: 5,235,095	L335H	probably damaging	Het
Ptgr1	A	G	4: 58,984,865		probably benign	Het
Rdh7	A	G	10: 127,884,721	S261P	probably benign	Het
Reg3a	A	G	6: 78,383,286	T150A	probably benign	Het
Rnf111	A	G	9: 70,476,112	S180P	probably benign	Het
Rnf17	A	G	14: 56,522,399	M1554V	probably damaging	Het
Rnf215	T	A	11: 4,135,873	Y117*	probably null	Het
Rogdi	T	C	16: 5,010,505	T165A	probably benign	Het
Rpe65	A	G	3: 159,622,848	Y431C	probably damaging	Het
Scube1	A	G	15: 83,610,204	F844S	probably damaging	Het
Sdr16c6	T	A	4: 4,058,814	E257D	probably benign	Het
Sim1	C	A	10: 50,981,553	C466*	probably null	Het
Spi1	T	A	2: 91,099,522	H46Q	probably damaging	Het
Sumf2	C	A	5: 129,845,068		probably benign	Het
Tbcb	A	G	7: 30,231,612	Y28H	probably benign	Het
Tecta	C	T	9: 42,343,631	C1752Y	probably damaging	Het
Tep1	T	C	14: 50,829,622		probably benign	Het
Tmem245	A	T	4: 56,903,968	W591R	probably damaging	Het
Tnxb	A	G	17: 34,683,574	I1134V	probably benign	Het
Trim13	G	T	14: 61,605,619	A362S	probably benign	Het
Trim47	T	A	11: 116,109,820	D134V	probably damaging	Het
Ttc26	T	A	6: 38,409,476	D377E	possibly damaging	Het
Utrn	C	A	10: 12,436,364	D616Y	probably damaging	Het
Vnn1	G	T	10: 23,899,517	A222S	possibly damaging	Het
Wdr17	A	G	8: 54,690,214	W110R	probably damaging	Het
Wwp1	G	T	4: 19,627,892	Y700*	probably null	Het
Zbtb21	T	C	16: 97,950,585	S661G	probably benign	Het
Zfp955b	A	G	17: 33,302,814	K419R	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
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'- AACTCTTCAACTCAGGCCGCTG -3'
(R):5'- GGGCTGGTATGATGGAACAACTGC -3'

Sequencing Primer
(F):5'- TCCTGAAGCAGGTCAGGC -3'
(R):5'- GATGGAACAACTGCCTTGTC -3'

Posted On

2014-05-23