Mutagenetix > Incidental Mutations

Incidental Mutation 'R7018:Diexf'

545429

Institutional Source

Beutler Lab

Gene Symbol

Diexf

Ensembl Gene

ENSMUSG00000016181

Gene Name

digestive organ expansion factor homolog (zebrafish)

Synonyms

AA408296

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

193091104-193130272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 193114855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 563 (I563T)

Ref Sequence

ENSEMBL: ENSMUSP00000082691 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000085555
AA Change: I563T

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: I563T

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

probably benign
Transcript: ENSMUST00000193460
AA Change: I75T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181
AA Change: I75T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194412

Predicted Effect

probably benign
Transcript: ENSMUST00000195291
AA Change: I563T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: I563T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	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
IGL01700:Diexf	APN	1	193118265	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCACCAACACATGACTGATG -3'
(R):5'- GGGTGCTCTGCAGTCACTAATG -3'

Sequencing Primer
(F):5'- ATGACTGATGGAGCCCGTCATG -3'
(R):5'- GCTGGTATTTTGCACCAAGC -3'

Posted On

2019-05-13