Mutagenetix > Incidental Mutation

Incidental Mutation 'R7910:Eif2d'

610406

Institutional Source

Beutler Lab

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

D1Ertd5e, Lgtn

MMRRC Submission

045959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7910 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131080918-131115395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 131082950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 98 (T98K)

Ref Sequence

ENSEMBL: ENSMUSP00000108065 (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: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: T98K

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: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: T98K

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: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: T98K

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: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: T98K

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 damaging
Transcript: ENSMUST00000149119
AA Change: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427
AA Change: T98K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000151874
AA Change: T98K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: T98K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	A	T	6: 65,930,289 (GRCm39)	T175S	probably benign	Het
Abca13	A	G	11: 9,531,590 (GRCm39)	I4606V	probably damaging	Het
Abca3	G	A	17: 24,604,827 (GRCm39)	V645I	probably benign	Het
Abi3bp	A	T	16: 56,498,105 (GRCm39)	R980*	probably null	Het
Acsl6	G	T	11: 54,236,797 (GRCm39)	G564*	probably null	Het
Alppl2	T	C	1: 87,015,159 (GRCm39)	E430G	probably benign	Het
Anks1b	A	G	10: 90,516,654 (GRCm39)	Y883C	probably damaging	Het
Atp11b	T	C	3: 35,885,652 (GRCm39)	F882L	possibly damaging	Het
Atrn	T	A	2: 130,806,807 (GRCm39)	H609Q	probably benign	Het
Bcl2l13	A	T	6: 120,842,646 (GRCm39)	K113M	possibly damaging	Het
Brinp2	T	A	1: 158,074,450 (GRCm39)	N557I	probably damaging	Het
C4b	A	G	17: 34,959,326 (GRCm39)	L416P	probably benign	Het
Ccdc125	T	A	13: 100,819,327 (GRCm39)	I163K	possibly damaging	Het
Ccdc136	T	G	6: 29,420,033 (GRCm39)	D1075E	probably benign	Het
Cdc45	T	A	16: 18,629,203 (GRCm39)	Y47F	probably damaging	Het
Cdk10	T	C	8: 123,953,105 (GRCm39)	V36A	probably damaging	Het
Ciz1	T	A	2: 32,260,139 (GRCm39)		probably null	Het
Clasp1	T	G	1: 118,530,144 (GRCm39)	L1502*	probably null	Het
Crtc1	G	T	8: 70,840,251 (GRCm39)	Q541K	probably benign	Het
Ddx5	G	T	11: 106,675,261 (GRCm39)	T358N	probably damaging	Het
Ehbp1l1	A	T	19: 5,766,452 (GRCm39)	V1297E	probably benign	Het
Ezh2	T	C	6: 47,533,077 (GRCm39)	D124G	probably damaging	Het
Gamt	T	G	10: 80,094,243 (GRCm39)	I223L	possibly damaging	Het
Gbp7	T	C	3: 142,240,402 (GRCm39)	V40A	probably damaging	Het
Gm11992	A	G	11: 8,999,165 (GRCm39)	E7G	probably damaging	Het
Gml2	A	G	15: 74,692,379 (GRCm39)		probably null	Het
Grem2	A	G	1: 174,664,813 (GRCm39)	V12A	probably benign	Het
Gsta1	T	A	9: 78,139,577 (GRCm39)	I19N	probably damaging	Het
Gstt2	T	C	10: 75,667,736 (GRCm39)	I240V	probably benign	Het
Hectd4	T	C	5: 121,392,291 (GRCm39)	L185S	possibly damaging	Het
Hsd3b7	G	A	7: 127,400,419 (GRCm39)		probably null	Het
Ift22	T	A	5: 136,940,638 (GRCm39)	M101K	probably benign	Het
Irs1	A	G	1: 82,267,802 (GRCm39)	V138A	probably benign	Het
Ky	A	G	9: 102,419,141 (GRCm39)	M383V	possibly damaging	Het
Lama4	A	G	10: 38,946,005 (GRCm39)	E796G	probably damaging	Het
Lcp2	A	G	11: 34,038,061 (GRCm39)	Y426C	probably damaging	Het
Lig3	A	G	11: 82,688,601 (GRCm39)	D755G	probably damaging	Het
Lrrc43	T	A	5: 123,630,470 (GRCm39)	I111N	probably damaging	Het
Lrrc43	A	G	5: 123,639,084 (GRCm39)	D371G	probably benign	Het
Lrrc74b	C	A	16: 17,376,213 (GRCm39)	G146*	probably null	Het
Lrrfip1	A	G	1: 91,047,874 (GRCm39)	K479E	possibly damaging	Het
Lrriq1	C	A	10: 103,051,055 (GRCm39)	E566*	probably null	Het
Mlxipl	C	T	5: 135,161,263 (GRCm39)	A394V	possibly damaging	Het
Myh14	T	C	7: 44,281,819 (GRCm39)	Y813C	probably damaging	Het
Nat10	T	A	2: 103,555,490 (GRCm39)	E943D	probably benign	Het
Nectin2	T	A	7: 19,466,912 (GRCm39)	K226*	probably null	Het
Nlrc5	T	G	8: 95,219,720 (GRCm39)	S1103R	probably benign	Het
Nr4a1	T	A	15: 101,169,641 (GRCm39)	Y304N	probably damaging	Het
Ntpcr	T	C	8: 126,474,483 (GRCm39)	V184A	probably benign	Het
Or1j13	T	A	2: 36,369,345 (GRCm39)	N266Y	probably damaging	Het
Or5p73	T	C	7: 108,064,978 (GRCm39)	V149A	probably benign	Het
Or5t18	A	G	2: 86,637,191 (GRCm39)	S51P	probably benign	Het
Oxr1	A	C	15: 41,517,030 (GRCm39)	S65R	possibly damaging	Het
Pcdhb19	A	T	18: 37,630,720 (GRCm39)	I172L	probably benign	Het
Pds5a	A	T	5: 65,795,925 (GRCm39)	I655N	possibly damaging	Het
Pik3cg	T	C	12: 32,250,516 (GRCm39)	Y757C	probably benign	Het
Plekha5	C	A	6: 140,472,184 (GRCm39)	T37N	possibly damaging	Het
Ppp4r1	T	A	17: 66,118,298 (GRCm39)	F167I	probably benign	Het
Ppp4r1	C	T	17: 66,136,394 (GRCm39)	A534V	probably damaging	Het
Ppt2	T	A	17: 34,846,300 (GRCm39)		probably null	Het
Prrt2	A	T	7: 126,619,219 (GRCm39)	V82D	possibly damaging	Het
Rassf5	T	A	1: 131,108,366 (GRCm39)	Y338F	probably benign	Het
Rbbp6	G	A	7: 122,596,251 (GRCm39)	V560I	possibly damaging	Het
Rcbtb1	T	C	14: 59,474,127 (GRCm39)	M90T	unknown	Het
Rif1	T	A	2: 51,968,399 (GRCm39)	L194*	probably null	Het
Rybp	A	T	6: 100,209,879 (GRCm39)	I128K	possibly damaging	Het
Samm50	T	G	15: 84,098,346 (GRCm39)	F462V	possibly damaging	Het
Slain1	T	C	14: 103,923,200 (GRCm39)	Y264H	probably damaging	Het
Slc29a4	C	T	5: 142,691,156 (GRCm39)	P12L	probably benign	Het
Slc6a2	T	C	8: 93,720,766 (GRCm39)	I461T	possibly damaging	Het
Soat2	A	G	15: 102,069,106 (GRCm39)	D377G	probably damaging	Het
Spocd1	A	G	4: 129,823,893 (GRCm39)	E230G		Het
Tbc1d30	T	A	10: 121,183,061 (GRCm39)	K126*	probably null	Het
Tgfbi	T	A	13: 56,779,997 (GRCm39)	F515L	probably damaging	Het
Utf1	A	G	7: 139,524,704 (GRCm39)		probably benign	Het
Vmn1r206	G	T	13: 22,804,471 (GRCm39)	Y245*	probably null	Het
Vmn1r87	T	A	7: 12,865,832 (GRCm39)	S152C	probably damaging	Het
Zfc3h1	C	A	10: 115,256,588 (GRCm39)	Y1519*	probably null	Het
Zfp248	A	T	6: 118,407,103 (GRCm39)	L162H	possibly damaging	Het
Zfp804a	T	A	2: 82,086,917 (GRCm39)	F249I	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
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
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
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'- CCCTGAGCTGCTTCATAGTG -3'
(R):5'- TCCAGGAAACTCAGAAACATTGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- ACTCAGAAACATTGGAAGAATAACAC -3'

Posted On

2019-12-20