Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02076:Diexf'

283360

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

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

193091104-193130272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 193130059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 31 (H31R)

Ref Sequence

ENSEMBL: ENSMUSP00000141676 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085555
AA Change: H31R

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

SMART Domains

Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: H31R

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: ENSMUST00000194335

Predicted Effect

probably damaging
Transcript: ENSMUST00000195291
AA Change: H31R

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

SMART Domains

Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: H31R

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 damaging
Transcript: ENSMUST00000195848
AA Change: H31R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,900	Y407C	probably damaging	Het
Capn5	T	A	7: 98,131,743	K276*	probably null	Het
Cct4	T	C	11: 23,002,394	V495A	probably damaging	Het
Dapk3	A	G	10: 81,190,297	K141E	probably damaging	Het
Dnah2	T	C	11: 69,422,559	N4264S	probably damaging	Het
Dok1	A	G	6: 83,032,831	L99P	probably damaging	Het
Ebf3	A	G	7: 137,231,301	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,660,488	S43P	probably benign	Het
Jhy	G	A	9: 40,917,378	Q411*	probably null	Het
Krt73	G	A	15: 101,799,935	T229I	probably damaging	Het
Mroh8	A	G	2: 157,271,962		probably null	Het
Olfm1	A	G	2: 28,222,625	T223A	probably damaging	Het
Olfr32	T	A	2: 90,138,815	E108V	probably damaging	Het
Olfr937	A	G	9: 39,060,585	L27P	probably damaging	Het
Oprk1	T	A	1: 5,602,289	D216E	probably damaging	Het
Pim1	T	A	17: 29,493,803	I230N	probably damaging	Het
Ppm1f	A	C	16: 16,914,171	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,705,819	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,450,522	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,762,381	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,927,626	C41R	possibly damaging	Het
Stil	C	A	4: 115,023,637	H459Q	probably benign	Het
Tbc1d32	A	G	10: 56,088,403	I900T	possibly damaging	Het
Tmem33	T	C	5: 67,286,103	F208L	probably damaging	Het
Vmn2r72	A	G	7: 85,738,367	V663A	probably damaging	Het

Other mutations in Diexf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Diexf	APN	1	193115001	missense	probably damaging	1.00
IGL01700:Diexf	APN	1	193118265	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
R9485:Diexf	UTSW	1	193130233	unclassified	probably benign
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

2015-04-16