Mutagenetix > Incidental Mutations

Incidental Mutation 'R0001:Eif2d'

32211

Institutional Source

Beutler Lab

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

Lgtn, D1Ertd5e

MMRRC Submission

038297-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0001 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

131153181-131187658 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 131168127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 453 (K453*)

Ref Sequence

ENSEMBL: ENSMUSP00000138061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068791] [ENSMUST00000068805] [ENSMUST00000112446] [ENSMUST00000131855] [ENSMUST00000149119] [ENSMUST00000151874]

AlphaFold

Q61211

Predicted Effect

probably null
Transcript: ENSMUST00000068791
AA Change: K403*

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: K403*

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068805
AA Change: K453*

SMART Domains

Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: K453*

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	474	554	1.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112446
AA Change: K453*

SMART Domains

Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: K453*

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	551	3.5e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131855
AA Change: K453*

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: K453*

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	554	8.7e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149119

SMART Domains

Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000151874
AA Change: K453*

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: K453*

Domain	Start	End	E-Value	Type
PUA	99	173	1.07e-5	SMART
low complexity region	297	306	N/A	INTRINSIC
Pfam:SUI1	472	556	1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153651

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Clk4	T	A	11: 51,268,765		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Eif2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Eif2d	APN	1	131166352	missense	probably benign	0.06
IGL00848:Eif2d	APN	1	131164436	nonsense	probably null
IGL02250:Eif2d	APN	1	131160429	missense	probably benign	0.34
IGL02423:Eif2d	APN	1	131153360	utr 5 prime	probably benign
IGL02877:Eif2d	APN	1	131165117	splice site	probably benign
R0593:Eif2d	UTSW	1	131155728	splice site	probably benign
R0739:Eif2d	UTSW	1	131154363	missense	probably damaging	1.00
R1842:Eif2d	UTSW	1	131171060	missense	probably damaging	1.00
R2088:Eif2d	UTSW	1	131164727	missense	probably damaging	0.98
R4206:Eif2d	UTSW	1	131154363	missense	probably damaging	1.00
R4732:Eif2d	UTSW	1	131164727	missense	probably damaging	0.98
R4733:Eif2d	UTSW	1	131164727	missense	probably damaging	0.98
R4734:Eif2d	UTSW	1	131165152	missense	probably damaging	1.00
R4931:Eif2d	UTSW	1	131154391	missense	probably damaging	1.00
R5281:Eif2d	UTSW	1	131173343	missense	probably damaging	1.00
R5419:Eif2d	UTSW	1	131158298	makesense	probably null
R5773:Eif2d	UTSW	1	131158303	splice site	probably null
R6074:Eif2d	UTSW	1	131166342	missense	probably damaging	1.00
R6947:Eif2d	UTSW	1	131164667	missense	probably benign	0.00
R7396:Eif2d	UTSW	1	131166374	missense	probably benign	0.13
R7419:Eif2d	UTSW	1	131171056	missense	probably benign	0.00
R7630:Eif2d	UTSW	1	131154366	missense	probably benign	0.01
R7910:Eif2d	UTSW	1	131155213	missense	probably damaging	1.00
R8295:Eif2d	UTSW	1	131158251	missense	probably benign	0.37
R8471:Eif2d	UTSW	1	131164418	missense	probably benign	0.25
R9217:Eif2d	UTSW	1	131158235	missense	possibly damaging	0.52
Z1176:Eif2d	UTSW	1	131164465	missense	probably damaging	0.98
Z1176:Eif2d	UTSW	1	131164502	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAGTCACTGATGTTCCCGTCTCG -3'
(R):5'- CATGCTCTTCCAATGCAAAGCCTC -3'

Sequencing Primer
(F):5'- CTCTCTGAGGAGCTTTGAGACAC -3'
(R):5'- ggtggtggtaggggtgg -3'

Posted On

2013-05-09