Mutagenetix > Incidental Mutation

Incidental Mutation 'R2088:Eif2d'

231562

Institutional Source

Beutler Lab

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

D1Ertd5e, Lgtn

MMRRC Submission

040093-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2088 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131080918-131115395 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131092464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 374 (V374A)

Ref Sequence

ENSEMBL: ENSMUSP00000138061 (fasta)

Gene Model

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

AlphaFold

Q61211

Predicted Effect

probably benign
Transcript: ENSMUST00000068791

SMART Domains

Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427

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: V374A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: V374A

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

possibly damaging
Transcript: ENSMUST00000112446
AA Change: V374A

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: V374A

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 benign
Transcript: ENSMUST00000131855
AA Change: V374A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: V374A

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: V374A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: V374A

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

0.1000

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (66/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,333,265 (GRCm39)		probably benign	Het
Ano5	T	A	7: 51,237,454 (GRCm39)	N759K	possibly damaging	Het
Arhgef10	A	G	8: 15,033,898 (GRCm39)	T1072A	possibly damaging	Het
BC107364	T	C	3: 96,341,745 (GRCm39)	T93A	unknown	Het
Canx	C	T	11: 50,201,217 (GRCm39)	E97K	possibly damaging	Het
Casp8ap2	T	C	4: 32,631,126 (GRCm39)	L62P	probably damaging	Het
Cbfa2t3	C	T	8: 123,364,725 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,811 (GRCm39)		probably null	Het
Cmya5	A	T	13: 93,229,320 (GRCm39)	S1923T	probably damaging	Het
Cntnap1	T	A	11: 101,073,373 (GRCm39)	I618N	probably damaging	Het
Cox17	C	G	16: 38,167,542 (GRCm39)	P27R	probably damaging	Het
Ctnna3	A	G	10: 64,708,986 (GRCm39)	E675G	probably damaging	Het
Cul9	A	G	17: 46,837,575 (GRCm39)	L990P	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Fhdc1	T	C	3: 84,382,033 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,222,804 (GRCm39)	I1926F	probably benign	Het
Galnt4	A	G	10: 98,945,046 (GRCm39)	D257G	probably damaging	Het
Gatm	A	G	2: 122,428,629 (GRCm39)	V344A	probably benign	Het
Gli1	T	G	10: 127,167,369 (GRCm39)	Y628S	probably damaging	Het
Gsdmc3	A	C	15: 63,732,063 (GRCm39)		probably null	Het
Hap1	T	C	11: 100,246,828 (GRCm39)	T26A	probably benign	Het
Helz2	C	T	2: 180,876,895 (GRCm39)	G1200S	probably benign	Het
Insyn1	T	C	9: 58,406,288 (GRCm39)	F66S	probably damaging	Het
Iqgap2	C	T	13: 96,028,171 (GRCm39)		probably null	Het
Itga3	T	A	11: 94,943,320 (GRCm39)	I895F	probably benign	Het
Klhl33	A	T	14: 51,130,230 (GRCm39)	C421*	probably null	Het
Klra2	T	C	6: 131,219,789 (GRCm39)	T131A	probably damaging	Het
Krt14	T	C	11: 100,094,949 (GRCm39)	E426G	possibly damaging	Het
Limd2	A	G	11: 106,049,568 (GRCm39)	F107L	probably damaging	Het
Lipo4	A	T	19: 33,477,469 (GRCm39)	N318K	possibly damaging	Het
Mab21l2	T	G	3: 86,454,316 (GRCm39)	D228A	probably damaging	Het
Moxd2	G	A	6: 40,861,901 (GRCm39)	H224Y	probably damaging	Het
Mpp4	T	C	1: 59,162,624 (GRCm39)	Y521C	possibly damaging	Het
Msto1	C	T	3: 88,818,297 (GRCm39)	A317T	probably damaging	Het
Mtmr4	T	C	11: 87,501,793 (GRCm39)	S559P	probably damaging	Het
Muc4	T	A	16: 32,576,783 (GRCm39)	H2094Q	unknown	Het
Ndufa11	C	A	17: 57,024,922 (GRCm39)	T28K	probably damaging	Het
Or2b4	A	G	17: 38,116,686 (GRCm39)	T217A	probably benign	Het
Or4f4b	G	T	2: 111,314,623 (GRCm39)	A283S	probably damaging	Het
Orai2	C	A	5: 136,179,610 (GRCm39)	R155L	probably damaging	Het
Pde4c	A	G	8: 71,202,005 (GRCm39)	D582G	possibly damaging	Het
Pde4dip	T	C	3: 97,661,749 (GRCm39)	E609G	probably null	Het
Prune2	A	G	19: 17,097,109 (GRCm39)	D871G	possibly damaging	Het
Rbpms2	T	A	9: 65,538,121 (GRCm39)	L4Q	probably damaging	Het
Rhbg	T	C	3: 88,154,765 (GRCm39)	Y213C	probably damaging	Het
Rplp0	T	A	5: 115,700,562 (GRCm39)	N243K	possibly damaging	Het
Rtp4	A	T	16: 23,431,963 (GRCm39)	H165L	possibly damaging	Het
Ryr2	C	A	13: 11,677,115 (GRCm39)	M3245I	probably benign	Het
Sh2b2	T	A	5: 136,260,968 (GRCm39)	M83L	possibly damaging	Het
Simc1	T	C	13: 54,689,347 (GRCm39)	I284T	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
St6galnac1	A	G	11: 116,659,933 (GRCm39)	S127P	probably benign	Het
Tatdn3	A	G	1: 190,785,073 (GRCm39)	I192T	possibly damaging	Het
Tmem25	C	A	9: 44,707,383 (GRCm39)	V239F	possibly damaging	Het
Tprkb	A	C	6: 85,909,922 (GRCm39)		probably benign	Het
Trappc10	A	G	10: 78,032,168 (GRCm39)	V1040A	probably benign	Het
Txnrd1	G	A	10: 82,719,744 (GRCm39)		probably benign	Het
Uhrf1	A	T	17: 56,625,089 (GRCm39)	K544M	probably damaging	Het
Unc80	T	A	1: 66,629,386 (GRCm39)	H1294Q	possibly damaging	Het
Uspl1	T	A	5: 149,146,560 (GRCm39)	I437K	probably damaging	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Vmn2r19	A	T	6: 123,312,795 (GRCm39)	I622F	probably damaging	Het
Znfx1	A	G	2: 166,897,730 (GRCm39)	F398S	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
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'- GCAGCTCAGTTGATTTAAGGGC -3'
(R):5'- CTGCAGATTGAGAGGCCTAATC -3'

Sequencing Primer
(F):5'- CAGCTCAGTTGATTTAAGGGCATTGG -3'
(R):5'- AGAGGCCTAATCTCTCATTTACC -3'

Posted On

2014-09-18