Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Def6'

298026

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02550

Quality Score

Status

Chromosome

Chromosomal Location

28426752-28447582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28447235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 622 (E622V)

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: E622V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257
AA Change: E622V

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,884,325 (GRCm39)		probably null	Het
Acer3	G	A	7: 97,873,185 (GRCm39)	T171I	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Anxa2	A	G	9: 69,374,588 (GRCm39)	S22G	probably benign	Het
Arrb2	T	C	11: 70,327,696 (GRCm39)	I120T	probably damaging	Het
Atp11a	G	T	8: 12,866,997 (GRCm39)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm39)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,627,227 (GRCm39)	S48T	probably benign	Het
Cntn2	T	C	1: 132,456,801 (GRCm39)	M82V	probably null	Het
Cobll1	A	G	2: 64,938,207 (GRCm39)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,726,055 (GRCm39)	D465E	probably benign	Het
Dmgdh	T	C	13: 93,854,083 (GRCm39)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,935,724 (GRCm39)	M1K	probably null	Het
Esyt1	T	C	10: 128,357,962 (GRCm39)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,156,017 (GRCm39)	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126 (GRCm39)	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,793,130 (GRCm39)	V549I	probably benign	Het
Gm7361	A	G	5: 26,466,120 (GRCm39)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,172,619 (GRCm39)		probably benign	Het
Gvin3	A	T	7: 106,200,846 (GRCm39)		noncoding transcript	Het
Il16	T	A	7: 83,323,704 (GRCm39)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,711,805 (GRCm39)	L515P	probably damaging	Het
Jhy	A	G	9: 40,828,466 (GRCm39)	F480S	probably benign	Het
Klc4	C	A	17: 46,947,836 (GRCm39)		probably null	Het
Klhl12	G	T	1: 134,395,443 (GRCm39)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,752,604 (GRCm39)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,686,905 (GRCm39)		probably null	Het
Myo1f	G	A	17: 33,807,116 (GRCm39)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,799,124 (GRCm39)		probably benign	Het
Nbea	C	A	3: 55,926,835 (GRCm39)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,154,410 (GRCm39)	D602G	probably benign	Het
Ncaph2	A	T	15: 89,254,064 (GRCm39)	K344*	probably null	Het
Nek2	A	G	1: 191,554,371 (GRCm39)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,100,349 (GRCm39)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,158,845 (GRCm39)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,230,166 (GRCm39)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,624,343 (GRCm39)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,381,842 (GRCm39)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,937,544 (GRCm39)	K625*	probably null	Het
Plrg1	T	C	3: 82,968,430 (GRCm39)		probably null	Het
Ptpn12	A	G	5: 21,203,137 (GRCm39)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,290,331 (GRCm39)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,399,459 (GRCm39)	E41G	probably damaging	Het
Rela	G	T	19: 5,691,534 (GRCm39)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,604,059 (GRCm39)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,487,723 (GRCm39)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,889,191 (GRCm39)	M40I	probably benign	Het
Smarca4	C	A	9: 21,597,418 (GRCm39)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,057,366 (GRCm39)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,577,246 (GRCm39)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 115,939,197 (GRCm39)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,204,966 (GRCm39)		probably null	Het
Tmf1	T	C	6: 97,135,522 (GRCm39)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,412,535 (GRCm39)	Y312C	probably damaging	Het
Usp47	C	T	7: 111,703,561 (GRCm39)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,671,994 (GRCm39)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,242 (GRCm39)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,883 (GRCm39)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,698,206 (GRCm39)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,221,744 (GRCm39)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,540,255 (GRCm39)	D693G	probably benign	Het
Zan	A	G	5: 137,385,301 (GRCm39)	L5044P	unknown	Het
Zhx3	T	C	2: 160,623,216 (GRCm39)	N317S	probably 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
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
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

Posted On

2015-04-16