Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Eif2d'

292806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif2d

Ensembl Gene

ENSMUSG00000026427

Gene Name

eukaryotic translation initiation factor 2D

Synonyms

D1Ertd5e, Lgtn

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

131080918-131115395 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to G at 131081097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000068805

SMART Domains

Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427

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 benign
Transcript: ENSMUST00000112446

SMART Domains

Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427

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

SMART Domains

Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427

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

noncoding transcript
Transcript: ENSMUST00000139468

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 benign
Transcript: ENSMUST00000151874

SMART Domains

Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	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
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
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

Posted On

2015-04-16