Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01700:Diexf'

104442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Diexf

Ensembl Gene

ENSMUSG00000016181

Gene Name

digestive organ expansion factor homolog (zebrafish)

Synonyms

AA408296

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

193091104-193130272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 193118265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 416 (P416S)

Ref Sequence

ENSEMBL: ENSMUSP00000141676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085555] [ENSMUST00000193460] [ENSMUST00000195291] [ENSMUST00000195848]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085555
AA Change: P416S

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

SMART Domains

Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: P416S

Domain	Start	End	E-Value	Type
low complexity region	51	70	N/A	INTRINSIC
coiled coil region	72	113	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	217	224	N/A	INTRINSIC
Pfam:UTP25	288	763	6.1e-200	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193070

Predicted Effect

probably benign
Transcript: ENSMUST00000193460

SMART Domains

Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181

Domain	Start	End	E-Value	Type
Pfam:DUF1253	1	205	6.8e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194335

Predicted Effect

probably benign
Transcript: ENSMUST00000194412

Predicted Effect

probably damaging
Transcript: ENSMUST00000195291
AA Change: P416S

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

SMART Domains

Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: P416S

Domain	Start	End	E-Value	Type
low complexity region	51	70	N/A	INTRINSIC
coiled coil region	72	113	N/A	INTRINSIC
low complexity region	123	139	N/A	INTRINSIC
low complexity region	217	224	N/A	INTRINSIC
Pfam:DUF1253	325	634	6.9e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,280,390	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,439,538	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,632,198	T276A	probably benign	Het
Ankrd55	T	C	13: 112,381,168	I556T	probably benign	Het
Aqp4	A	G	18: 15,399,865	I57T	probably benign	Het
Atp1a1	T	C	3: 101,594,258	D43G	possibly damaging	Het
Cyld	G	A	8: 88,707,099	R172H	probably damaging	Het
Ear2	A	T	14: 44,103,259	R125*	probably null	Het
Efcab9	T	C	11: 32,527,451	R24G	probably damaging	Het
F7	C	A	8: 13,028,685	Q39K	probably benign	Het
Galntl6	A	T	8: 57,958,460		probably benign	Het
Kcnj5	A	G	9: 32,322,629	V130A	probably damaging	Het
Magee2	A	G	X: 104,855,968	I359T	possibly damaging	Het
Myh1	T	G	11: 67,211,412	I843S	probably damaging	Het
Nfat5	T	A	8: 107,339,130	M98K	probably damaging	Het
Nrip3	T	A	7: 109,761,867	N200I	possibly damaging	Het
Olfr818	A	T	10: 129,945,941	N40K	probably damaging	Het
Phkb	A	T	8: 86,017,465	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,512,115	V69A	probably benign	Het
Pou3f1	G	T	4: 124,658,857	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,150,667	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,113,078	P27H	probably damaging	Het
Pvr	C	A	7: 19,909,232	A359S	probably benign	Het
Rasal1	A	T	5: 120,676,817	I711F	probably benign	Het
Ror1	C	T	4: 100,409,771	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,603,908	I638L	unknown	Het
Slfn10-ps	C	T	11: 83,029,112		noncoding transcript	Het
Sptbn4	A	G	7: 27,404,268	L1176P	probably damaging	Het
Usp21	A	T	1: 171,283,402	F421I	probably damaging	Het
Vmn1r61	T	A	7: 5,611,203	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,744,857	R364*	probably null	Het
Vps29	A	G	5: 122,362,867	Y165C	probably damaging	Het
Wdfy4	T	C	14: 33,020,238		probably benign	Het
Wdr24	A	G	17: 25,825,828	D219G	probably damaging	Het
Xpo1	T	C	11: 23,276,422		probably benign	Het
Zfp831	C	A	2: 174,644,918	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,986,461		probably benign	Het

Other mutations in Diexf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Diexf	APN	1	193115001	missense	probably damaging	1.00
IGL02076:Diexf	APN	1	193130059	missense	probably damaging	1.00
IGL02121:Diexf	APN	1	193118278	missense	probably benign	0.05
IGL02666:Diexf	APN	1	193107596	nonsense	probably null
IGL02997:Diexf	APN	1	193120584	missense	probably benign	0.34
3-1:Diexf	UTSW	1	193118280	missense	probably benign	0.07
R0099:Diexf	UTSW	1	193128470	missense	probably damaging	1.00
R0395:Diexf	UTSW	1	193123676	missense	possibly damaging	0.69
R0502:Diexf	UTSW	1	193114828	splice site	probably benign
R0973:Diexf	UTSW	1	193114703	missense	probably damaging	0.98
R0973:Diexf	UTSW	1	193114703	missense	probably damaging	0.98
R0974:Diexf	UTSW	1	193114703	missense	probably damaging	0.98
R1815:Diexf	UTSW	1	193118283	missense	probably benign	0.26
R1930:Diexf	UTSW	1	193118309	missense	probably damaging	1.00
R1931:Diexf	UTSW	1	193118309	missense	probably damaging	1.00
R1937:Diexf	UTSW	1	193122093	missense	probably damaging	1.00
R2847:Diexf	UTSW	1	193128451	missense	probably benign	0.41
R2848:Diexf	UTSW	1	193128451	missense	probably benign	0.41
R3412:Diexf	UTSW	1	193128502	missense	possibly damaging	0.93
R3414:Diexf	UTSW	1	193128502	missense	possibly damaging	0.93
R4471:Diexf	UTSW	1	193130137	missense	possibly damaging	0.68
R4627:Diexf	UTSW	1	193107695	missense	probably benign	0.00
R4644:Diexf	UTSW	1	193128480	missense	probably damaging	1.00
R4761:Diexf	UTSW	1	193113922	missense	probably damaging	1.00
R4791:Diexf	UTSW	1	193128267	missense	probably benign
R4793:Diexf	UTSW	1	193113808	missense	probably null	0.56
R4858:Diexf	UTSW	1	193113764	missense	probably damaging	1.00
R4944:Diexf	UTSW	1	193114954	missense	probably damaging	1.00
R5162:Diexf	UTSW	1	193113781	missense	probably damaging	1.00
R5347:Diexf	UTSW	1	193128379	missense	probably benign
R5837:Diexf	UTSW	1	193118393	missense	probably damaging	1.00
R6113:Diexf	UTSW	1	193129502	missense	probably null	0.01
R6455:Diexf	UTSW	1	193128376	missense	probably benign	0.07
R6563:Diexf	UTSW	1	193118390	missense	probably damaging	1.00
R6636:Diexf	UTSW	1	193113767	missense	probably damaging	1.00
R7018:Diexf	UTSW	1	193114855	missense	probably benign	0.06
R7037:Diexf	UTSW	1	193120723	splice site	probably null
R8027:Diexf	UTSW	1	193118222	missense	probably benign
R8042:Diexf	UTSW	1	193114672	missense
R8092:Diexf	UTSW	1	193120363	missense	probably benign	0.00
R8243:Diexf	UTSW	1	193114629	missense	probably benign
R8691:Diexf	UTSW	1	193113802	missense	probably benign	0.41
RF021:Diexf	UTSW	1	193120666	missense	probably benign
X0050:Diexf	UTSW	1	193123732	missense	probably benign	0.23
Z1177:Diexf	UTSW	1	193114675	missense	probably damaging	1.00

Posted On

2014-01-21