Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Diexf'

82916

Institutional Source

Beutler Lab

Gene Symbol

Diexf

Ensembl Gene

ENSMUSG00000016181

Gene Name

digestive organ expansion factor homolog (zebrafish)

Synonyms

AA408296

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

193091104-193130272 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 193114703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 573 (N573K)

Ref Sequence

ENSEMBL: ENSMUSP00000141676 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085555
AA Change: N573K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082691
Gene: ENSMUSG00000016181
AA Change: N573K

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: ENSMUST00000193070

Predicted Effect

probably benign
Transcript: ENSMUST00000193460
AA Change: N85K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142059
Gene: ENSMUSG00000016181
AA Change: N85K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194412

Predicted Effect

probably damaging
Transcript: ENSMUST00000195291
AA Change: N573K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141676
Gene: ENSMUSG00000016181
AA Change: N573K

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

Meta Mutation Damage Score

0.2570

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tm9sf1	T	C	14: 55,642,935	T2A	possibly damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGATTTTGCCGTGTCCCAAC -3'
(R):5'- TTCAACAAGCACTGCATCAATGCTC -3'

Sequencing Primer
(F):5'- TCTAGCTGTAATATGAAGACCAAGCC -3'
(R):5'- TCAATGCTCAAGGCCAGGTG -3'

Posted On

2013-11-08