Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Eif2d'

32211

Institutional Source

Beutler Lab

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

D1Ertd5e, Lgtn

MMRRC Submission

038297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0001 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

131080918-131115395 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 131095864 bp (GRCm39)

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
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Ciita	A	T	16: 10,332,297 (GRCm39)		probably benign	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx29	T	C	13: 113,101,090 (GRCm39)	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,259,787 (GRCm39)	I229V	probably benign	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Mmp9	A	G	2: 164,790,303 (GRCm39)	T43A	probably benign	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or52h1	T	A	7: 103,828,680 (GRCm39)	K312*	probably null	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	probably damaging	Het

Other mutations in Eif2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Eif2d	APN	1	131,094,089 (GRCm39)	missense	probably benign	0.06
IGL00848:Eif2d	APN	1	131,092,173 (GRCm39)	nonsense	probably null
IGL02250:Eif2d	APN	1	131,088,166 (GRCm39)	missense	probably benign	0.34
IGL02423:Eif2d	APN	1	131,081,097 (GRCm39)	utr 5 prime	probably benign
IGL02877:Eif2d	APN	1	131,092,854 (GRCm39)	splice site	probably benign
R0593:Eif2d	UTSW	1	131,083,465 (GRCm39)	splice site	probably benign
R0739:Eif2d	UTSW	1	131,082,100 (GRCm39)	missense	probably damaging	1.00
R1842:Eif2d	UTSW	1	131,098,797 (GRCm39)	missense	probably damaging	1.00
R2088:Eif2d	UTSW	1	131,092,464 (GRCm39)	missense	probably damaging	0.98
R4206:Eif2d	UTSW	1	131,082,100 (GRCm39)	missense	probably damaging	1.00
R4732:Eif2d	UTSW	1	131,092,464 (GRCm39)	missense	probably damaging	0.98
R4733:Eif2d	UTSW	1	131,092,464 (GRCm39)	missense	probably damaging	0.98
R4734:Eif2d	UTSW	1	131,092,889 (GRCm39)	missense	probably damaging	1.00
R4931:Eif2d	UTSW	1	131,082,128 (GRCm39)	missense	probably damaging	1.00
R5281:Eif2d	UTSW	1	131,101,080 (GRCm39)	missense	probably damaging	1.00
R5419:Eif2d	UTSW	1	131,086,035 (GRCm39)	makesense	probably null
R5773:Eif2d	UTSW	1	131,086,040 (GRCm39)	splice site	probably null
R6074:Eif2d	UTSW	1	131,094,079 (GRCm39)	missense	probably damaging	1.00
R6947:Eif2d	UTSW	1	131,092,404 (GRCm39)	missense	probably benign	0.00
R7396:Eif2d	UTSW	1	131,094,111 (GRCm39)	missense	probably benign	0.13
R7419:Eif2d	UTSW	1	131,098,793 (GRCm39)	missense	probably benign	0.00
R7630:Eif2d	UTSW	1	131,082,103 (GRCm39)	missense	probably benign	0.01
R7910:Eif2d	UTSW	1	131,082,950 (GRCm39)	missense	probably damaging	1.00
R8295:Eif2d	UTSW	1	131,085,988 (GRCm39)	missense	probably benign	0.37
R8471:Eif2d	UTSW	1	131,092,155 (GRCm39)	missense	probably benign	0.25
R9217:Eif2d	UTSW	1	131,085,972 (GRCm39)	missense	possibly damaging	0.52
R9488:Eif2d	UTSW	1	131,082,962 (GRCm39)	missense	probably damaging	1.00
R9722:Eif2d	UTSW	1	131,092,948 (GRCm39)	critical splice donor site	probably null
Z1176:Eif2d	UTSW	1	131,092,239 (GRCm39)	missense	probably damaging	0.98
Z1176:Eif2d	UTSW	1	131,092,202 (GRCm39)	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