Mutagenetix > Incidental Mutation

Incidental Mutation 'R4402:Def6'

326703

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

042003-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4402 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28426752-28447582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28438950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 219 (K219E)

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: K219E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: K219E

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

0.5259

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (61/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,020 (GRCm39)	H167Q	probably benign	Het
Adamts20	T	C	15: 94,277,827 (GRCm39)	T212A	probably benign	Het
Ap3b1	C	A	13: 94,554,607 (GRCm39)	L248I	probably damaging	Het
Atl1	T	G	12: 70,005,973 (GRCm39)	D426E	probably benign	Het
Cage1	T	A	13: 38,207,078 (GRCm39)	I256F	probably damaging	Het
Calcr	A	T	6: 3,708,484 (GRCm39)		probably null	Het
Canx	T	C	11: 50,195,265 (GRCm39)	T268A	probably benign	Het
Chd7	A	T	4: 8,866,353 (GRCm39)	M842L	possibly damaging	Het
Clca4a	T	C	3: 144,658,609 (GRCm39)	T787A	probably benign	Het
Clstn3	T	C	6: 124,433,939 (GRCm39)	Y407C	probably damaging	Het
Copa	C	A	1: 171,929,791 (GRCm39)	T286N	probably damaging	Het
Cyb5a	G	A	18: 84,889,718 (GRCm39)	R49Q	possibly damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Eif5	A	T	12: 111,508,183 (GRCm39)	K161N	probably benign	Het
Fras1	C	A	5: 96,790,479 (GRCm39)	T951K	probably damaging	Het
Gen1	A	T	12: 11,292,363 (GRCm39)	N475K	possibly damaging	Het
Gm14569	T	C	X: 35,697,146 (GRCm39)	Y521C	probably benign	Het
Gm6124	T	A	7: 38,870,529 (GRCm39)		noncoding transcript	Het
Gpt2	A	T	8: 86,252,188 (GRCm39)	D501V	probably benign	Het
Gstm2	T	C	3: 107,893,370 (GRCm39)	K31R	probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Itga1	T	A	13: 115,138,102 (GRCm39)	M428L	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcnn4	T	C	7: 24,076,867 (GRCm39)	W139R	probably benign	Het
Kdm7a	T	A	6: 39,143,602 (GRCm39)	R380W	probably null	Het
Khdrbs1	T	G	4: 129,635,889 (GRCm39)	D22A	possibly damaging	Het
Liph	A	T	16: 21,795,000 (GRCm39)	I204N	probably damaging	Het
Loxhd1	A	G	18: 77,529,456 (GRCm39)	E2033G	possibly damaging	Het
M6pr	C	T	6: 122,291,982 (GRCm39)		probably benign	Het
Mrm1	A	G	11: 84,709,915 (GRCm39)	I95T	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mug1	C	A	6: 121,856,311 (GRCm39)	F1030L	probably damaging	Het
Naca	C	T	10: 127,879,341 (GRCm39)		probably benign	Het
Nob1	A	T	8: 108,145,120 (GRCm39)		probably benign	Het
Nutm1	A	C	2: 112,080,154 (GRCm39)	I587R	probably damaging	Het
Or1e26	A	G	11: 73,480,081 (GRCm39)	V161A	probably benign	Het
Pcdhb2	A	G	18: 37,428,455 (GRCm39)	K143E	probably benign	Het
Pcnt	T	C	10: 76,228,227 (GRCm39)	Q1646R	probably benign	Het
Piwil2	A	T	14: 70,646,365 (GRCm39)	D390E	probably benign	Het
Pkhd1	A	G	1: 20,309,635 (GRCm39)	L2771P	probably damaging	Het
Pla2g1b	T	A	5: 115,608,947 (GRCm39)	Y47*	probably null	Het
Plekhn1	T	C	4: 156,309,813 (GRCm39)	T135A	probably damaging	Het
Pola1	T	C	X: 92,605,029 (GRCm39)	Y968C	probably damaging	Het
Ppp1r26	C	A	2: 28,341,618 (GRCm39)	T416K	probably benign	Het
Psmd1	A	G	1: 86,003,673 (GRCm39)	I153V	possibly damaging	Het
Rcan2	A	G	17: 44,264,361 (GRCm39)	D7G	probably benign	Het
Rexo5	T	C	7: 119,433,599 (GRCm39)	I326T	possibly damaging	Het
Rps6kc1	A	G	1: 190,530,802 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,333,985 (GRCm39)	S273P	probably benign	Het
Slc9b2	T	C	3: 135,042,305 (GRCm39)	V528A	probably benign	Het
Tas2r118	T	C	6: 23,969,293 (GRCm39)	K256R	probably benign	Het
Tma16	C	T	8: 66,936,823 (GRCm39)		probably null	Het
Tnfaip2	T	C	12: 111,416,285 (GRCm39)	F516L	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Wdr35	A	G	12: 9,039,981 (GRCm39)	D362G	probably damaging	Het
Wwp2	T	C	8: 108,184,610 (GRCm39)	V106A	probably benign	Het
Zfp40	T	A	17: 23,395,693 (GRCm39)	H230L	possibly damaging	Het
Zkscan17	T	A	11: 59,393,848 (GRCm39)	M1L	possibly damaging	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
R4589:Def6	UTSW	17	28,447,121 (GRCm39)	missense	probably benign
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'- CAGCCTGAGTTTGGAGATGG -3'
(R):5'- TTGCATTCCTCACTCCCAAAGTAG -3'

Sequencing Primer
(F):5'- AGATGGGCCTGGGCAAGC -3'
(R):5'- TCACTCCCAAAGTAGCAGAGG -3'

Posted On

2015-07-07