Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Eif2d'

359128

Institutional Source

Beutler Lab

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

D1Ertd5e, Lgtn

MMRRC Submission

041961-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131080918-131115395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131092889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 399 (R399L)

Ref Sequence

ENSEMBL: ENSMUSP00000138061 (fasta)

Gene Model

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

AlphaFold

Q61211

Predicted Effect

probably damaging
Transcript: ENSMUST00000068791
AA Change: R349L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: R349L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068805
AA Change: R399L

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

SMART Domains

Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: R399L

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 damaging
Transcript: ENSMUST00000112446
AA Change: R399L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: R399L

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 damaging
Transcript: ENSMUST00000131855
AA Change: R399L

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

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: R399L

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 damaging
Transcript: ENSMUST00000151874
AA Change: R399L

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

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: R399L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,961 (GRCm39)	M1V	probably null	Het
Abcb11	T	A	2: 69,154,306 (GRCm39)	T87S	possibly damaging	Het
Arap3	A	G	18: 38,129,328 (GRCm39)	V210A	probably benign	Het
Avl9	T	C	6: 56,713,479 (GRCm39)	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Cdhr18	T	C	14: 13,845,292 (GRCm38)	N540S	probably benign	Het
Cfap96	A	T	8: 46,423,454 (GRCm39)	M86K	possibly damaging	Het
Chsy3	C	A	18: 59,312,485 (GRCm39)	F319L	probably benign	Het
Coro2b	T	C	9: 62,333,860 (GRCm39)	T345A	probably benign	Het
Cpb1	A	G	3: 20,317,876 (GRCm39)	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,060,778 (GRCm39)	I213V	probably benign	Het
Dcaf15	A	G	8: 84,824,357 (GRCm39)	C586R	probably benign	Het
Ddr2	T	A	1: 169,825,657 (GRCm39)	E314D	probably benign	Het
Dennd5a	C	T	7: 109,495,543 (GRCm39)	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,957,027 (GRCm39)		probably null	Het
Eif2ak4	A	T	2: 118,252,568 (GRCm39)	H302L	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Fhod3	T	A	18: 25,161,192 (GRCm39)	Y575N	probably benign	Het
Fscb	T	C	12: 64,521,244 (GRCm39)	E74G	possibly damaging	Het
Gdpd2	G	A	X: 99,777,799 (GRCm39)	M243I	possibly damaging	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gnl2	T	C	4: 124,934,811 (GRCm39)	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,085 (GRCm39)	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,480,040 (GRCm39)	H2892L	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Impact	T	A	18: 13,118,346 (GRCm39)	H188Q	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnx2	C	T	5: 146,965,947 (GRCm39)	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,526,586 (GRCm39)	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,627,345 (GRCm39)	Q458H	probably damaging	Het
Maml3	A	T	3: 51,597,296 (GRCm39)	D483E	probably damaging	Het
Mef2c	T	A	13: 83,810,748 (GRCm39)	*467R	probably null	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,969,925 (GRCm39)	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,860,679 (GRCm39)	Y426H	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Oog2	T	C	4: 143,923,021 (GRCm39)	S429P	probably benign	Het
Or4d1	T	A	11: 87,805,016 (GRCm39)	T239S	probably damaging	Het
Or51f1	A	G	7: 102,506,186 (GRCm39)	I101T	probably damaging	Het
Or5p1	A	T	7: 107,916,959 (GRCm39)	N286I	probably damaging	Het
Or5p51	T	C	7: 107,444,635 (GRCm39)	I102V	probably benign	Het
Pcnt	T	C	10: 76,273,040 (GRCm39)	D93G	probably benign	Het
Pdia5	A	T	16: 35,276,883 (GRCm39)	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,668,133 (GRCm39)	R762*	probably null	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,470,428 (GRCm39)	Y141H	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Rassf8	G	T	6: 145,761,266 (GRCm39)	K197N	probably benign	Het
Ryr2	T	C	13: 11,752,639 (GRCm39)	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,740,847 (GRCm39)	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,368,604 (GRCm39)	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,356,060 (GRCm39)	S370F	probably damaging	Het
Slc29a3	A	G	10: 60,552,105 (GRCm39)	V313A	probably benign	Het
Slc2a9	C	A	5: 38,539,442 (GRCm39)	G353C	probably damaging	Het
Snx33	T	A	9: 56,833,185 (GRCm39)	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Supt6	T	C	11: 78,115,509 (GRCm39)	D761G	probably benign	Het
Tfeb	T	C	17: 48,096,787 (GRCm39)	V18A	probably benign	Het
Thap12	G	T	7: 98,365,161 (GRCm39)	C443F	probably damaging	Het
Thap12	T	A	7: 98,365,162 (GRCm39)	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158 (GRCm39)	D496G	probably benign	Het
Trappc8	G	A	18: 20,974,629 (GRCm39)	R900*	probably null	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,318,388 (GRCm39)	I80L	probably benign	Het
Trpm5	C	A	7: 142,636,522 (GRCm39)	V472L	probably benign	Het
Tspear	C	T	10: 77,700,529 (GRCm39)	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,355,443 (GRCm39)	V238M	probably benign	Het
Usp20	A	G	2: 30,909,836 (GRCm39)	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,897,795 (GRCm39)	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	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
R0001:Eif2d	UTSW	1	131,095,864 (GRCm39)	nonsense	probably null
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
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'- TGCATTTCATGTAGCCCTGC -3'
(R):5'- AAACCCTGAATCTGCCTGTTTC -3'

Sequencing Primer
(F):5'- TGCTTGCCTCCCTTAGGG -3'
(R):5'- GACTTGACAGAAAGTGCCATTACTC -3'

Posted On

2015-11-11