Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Eftud2'

371850

Institutional Source

Beutler Lab

Gene Symbol

Eftud2

Ensembl Gene

ENSMUSG00000020929

Gene Name

elongation factor Tu GTP binding domain containing 2

Synonyms

116kDa, Snrp116, U5-116kD

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4841 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102854814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 362 (F362L)

Ref Sequence

ENSEMBL: ENSMUSP00000134327 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000173679]

AlphaFold

O08810

Predicted Effect

probably damaging
Transcript: ENSMUST00000021306
AA Change: F372L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: F372L

Domain	Start	End	E-Value	Type
Pfam:EFTUD2	3	110	1.1e-42	PFAM
Pfam:GTP_EFTU	127	440	9.6e-47	PFAM
Pfam:GTP_EFTU_D2	489	566	3.8e-15	PFAM
Pfam:EFG_II	584	656	9.9e-11	PFAM
EFG_IV	703	824	1.1e-16	SMART
EFG_C	826	915	1.14e-14	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107060
AA Change: F371L

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: F371L

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	32	50	N/A	INTRINSIC
Pfam:GTP_EFTU	126	439	9.6e-44	PFAM
Pfam:Miro	130	260	2.5e-6	PFAM
Pfam:GTP_EFTU_D2	488	565	7.9e-13	PFAM
Pfam:EFG_II	583	655	8.2e-10	PFAM
EFG_IV	702	823	1.1e-16	SMART
EFG_C	825	914	1.14e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131678

Predicted Effect

probably damaging
Transcript: ENSMUST00000173679
AA Change: F362L

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

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: F362L

Domain	Start	End	E-Value	Type
low complexity region	16	26	N/A	INTRINSIC
low complexity region	29	51	N/A	INTRINSIC
Pfam:GTP_EFTU	127	430	2.2e-36	PFAM
Pfam:GTP_EFTU_D2	479	556	7.8e-13	PFAM
Pfam:EFG_II	574	646	8.1e-10	PFAM
EFG_IV	693	814	1.1e-16	SMART
EFG_C	816	905	1.14e-14	SMART

Meta Mutation Damage Score

0.8012

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 14,943,739 (GRCm38)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,860,377 (GRCm38)	M28K	probably benign	Het
9530053A07Rik	T	A	7: 28,150,722 (GRCm38)	C1198S	probably damaging	Het
A2m	A	T	6: 121,646,844 (GRCm38)	I390F	probably benign	Het
Abcc8	T	C	7: 46,150,828 (GRCm38)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,312,787 (GRCm38)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,794,271 (GRCm38)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,503,001 (GRCm38)		probably null	Het
Ap3b2	G	A	7: 81,477,930 (GRCm38)	A166V	probably damaging	Het
Bbox1	T	A	2: 110,303,739 (GRCm38)		probably null	Het
BC067074	G	A	13: 113,366,190 (GRCm38)	G143D	probably benign	Het
Bckdk	A	G	7: 127,905,461 (GRCm38)		probably null	Het
Cand1	C	A	10: 119,213,546 (GRCm38)		probably null	Het
Capn5	T	C	7: 98,131,672 (GRCm38)		probably null	Het
Cd209c	G	T	8: 3,945,905 (GRCm38)	R2S	probably benign	Het
Ces1g	C	T	8: 93,333,695 (GRCm38)	E99K	probably benign	Het
Cnmd	A	G	14: 79,650,322 (GRCm38)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,315,394 (GRCm38)	L315F	possibly damaging	Het
Ctdp1	A	G	18: 80,408,726 (GRCm38)	S145P	unknown	Het
Dmrt2	G	A	19: 25,677,667 (GRCm38)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,774,625 (GRCm38)	F298S	probably damaging	Het
Dock5	T	C	14: 67,817,563 (GRCm38)	D618G	probably damaging	Het
Drc3	G	A	11: 60,370,535 (GRCm38)	A171T	probably benign	Het
Dspp	A	T	5: 104,177,186 (GRCm38)	S472C	unknown	Het
Dspp	G	T	5: 104,177,187 (GRCm38)	S472I	unknown	Het
Ecel1	A	T	1: 87,153,301 (GRCm38)	N322K	probably damaging	Het
Egfr	C	T	11: 16,911,607 (GRCm38)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,704,843 (GRCm38)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,778,543 (GRCm38)	L261S	probably damaging	Het
Fam198b	G	A	3: 79,936,605 (GRCm38)	R377H	probably damaging	Het
Fam19a5	C	T	15: 87,625,436 (GRCm38)		probably benign	Het
Fancd2	T	C	6: 113,562,430 (GRCm38)	S239P	probably damaging	Het
Fbp2	C	A	13: 62,854,913 (GRCm38)	Q108H	probably benign	Het
Gipr	C	T	7: 19,162,676 (GRCm38)	R165H	probably damaging	Het
Gje1	C	T	10: 14,717,338 (GRCm38)	G45R	probably null	Het
Gm6588	A	T	5: 112,450,240 (GRCm38)	K218*	probably null	Het
Gpat2	C	G	2: 127,433,967 (GRCm38)	T555S	probably benign	Het
Grik3	C	A	4: 125,691,176 (GRCm38)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,835,590 (GRCm38)	E113G	probably benign	Het
Kat8	A	G	7: 127,925,194 (GRCm38)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,434,916 (GRCm38)	M486K	probably benign	Het
Kif21b	C	A	1: 136,145,220 (GRCm38)	H119N	probably damaging	Het
Leng9	T	C	7: 4,149,386 (GRCm38)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,092,867 (GRCm38)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,583,936 (GRCm38)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,562,511 (GRCm38)	D503E	probably benign	Het
Mybph	A	T	1: 134,198,495 (GRCm38)	E349V	probably damaging	Het
Myzap	A	G	9: 71,548,755 (GRCm38)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,253,375 (GRCm38)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,734,797 (GRCm38)	S412N	probably null	Het
Nudt5	T	C	2: 5,864,428 (GRCm38)	V155A	probably benign	Het
Olfr1301	C	G	2: 111,754,334 (GRCm38)	F28L	probably benign	Het
Olfr291	G	T	7: 84,857,120 (GRCm38)	L250F	probably damaging	Het
Olfr522	A	G	7: 140,162,689 (GRCm38)	L87P	possibly damaging	Het
Olfr539	A	T	7: 140,667,589 (GRCm38)	I94F	probably damaging	Het
Osbpl3	T	A	6: 50,309,376 (GRCm38)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,793,528 (GRCm38)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,443,161 (GRCm38)		probably null	Het
Pex16	T	G	2: 92,379,199 (GRCm38)		probably null	Het
Pnpla7	A	G	2: 24,980,052 (GRCm38)	T15A	probably benign	Het
Polq	G	T	16: 37,048,783 (GRCm38)		probably null	Het
Ppfia2	C	T	10: 106,854,957 (GRCm38)	T553I	probably benign	Het
Rreb1	G	A	13: 37,916,526 (GRCm38)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,528,742 (GRCm38)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,648,373 (GRCm38)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,191,955 (GRCm38)	V853A	probably benign	Het
Scfd1	T	C	12: 51,389,326 (GRCm38)	V86A	probably damaging	Het
Scube3	G	A	17: 28,164,123 (GRCm38)	C425Y	probably damaging	Het
Sfta2	T	C	17: 35,649,881 (GRCm38)		probably benign	Het
Sh3d19	T	C	3: 86,123,742 (GRCm38)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,622,461 (GRCm38)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,257,595 (GRCm38)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,165,837 (GRCm38)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 143,068,317 (GRCm38)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,377,003 (GRCm38)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,858,100 (GRCm38)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,187,652 (GRCm38)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,762,891 (GRCm38)	V1055L	probably benign	Het
Synpo	A	T	18: 60,603,612 (GRCm38)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,782,406 (GRCm38)	V135A	possibly damaging	Het
Trim58	G	A	11: 58,651,324 (GRCm38)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,886,247 (GRCm38)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,731,125 (GRCm38)	R552C	probably benign	Het
Vit	T	C	17: 78,601,879 (GRCm38)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,702,936 (GRCm38)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,310,362 (GRCm38)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,434,380 (GRCm38)	N545S	probably damaging	Het
Zbtb44	T	G	9: 31,053,405 (GRCm38)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,031,641 (GRCm38)	Y875C	probably damaging	Het

Other mutations in Eftud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Eftud2	APN	11	102,865,563 (GRCm38)	splice site	probably benign
IGL01765:Eftud2	APN	11	102,839,256 (GRCm38)	missense	probably damaging	0.99
IGL01868:Eftud2	APN	11	102,869,127 (GRCm38)	missense	probably benign	0.08
IGL02161:Eftud2	APN	11	102,854,876 (GRCm38)	splice site	probably benign
IGL02165:Eftud2	APN	11	102,851,747 (GRCm38)	splice site	probably benign
IGL02218:Eftud2	APN	11	102,870,213 (GRCm38)	missense	possibly damaging	0.46
IGL02386:Eftud2	APN	11	102,851,754 (GRCm38)	splice site	probably null
IGL02664:Eftud2	APN	11	102,841,712 (GRCm38)	missense	probably damaging	1.00
IGL02677:Eftud2	APN	11	102,846,614 (GRCm38)	missense	probably damaging	1.00
IGL02792:Eftud2	APN	11	102,870,256 (GRCm38)	splice site	probably benign
IGL02870:Eftud2	APN	11	102,862,626 (GRCm38)	missense	probably damaging	0.97
IGL03131:Eftud2	APN	11	102,870,183 (GRCm38)	missense	probably damaging	1.00
R0137:Eftud2	UTSW	11	102,868,617 (GRCm38)	missense	possibly damaging	0.94
R0244:Eftud2	UTSW	11	102,864,725 (GRCm38)	missense	probably damaging	0.97
R0358:Eftud2	UTSW	11	102,864,801 (GRCm38)	splice site	probably benign
R0463:Eftud2	UTSW	11	102,864,771 (GRCm38)	missense	probably damaging	1.00
R0511:Eftud2	UTSW	11	102,844,222 (GRCm38)	missense	probably damaging	1.00
R0525:Eftud2	UTSW	11	102,839,253 (GRCm38)	missense	probably damaging	1.00
R0586:Eftud2	UTSW	11	102,846,620 (GRCm38)	missense	probably damaging	1.00
R0751:Eftud2	UTSW	11	102,839,253 (GRCm38)	missense	probably damaging	1.00
R1034:Eftud2	UTSW	11	102,849,184 (GRCm38)	missense	probably benign
R1079:Eftud2	UTSW	11	102,840,044 (GRCm38)	nonsense	probably null
R1208:Eftud2	UTSW	11	102,864,766 (GRCm38)	missense	probably benign	0.22
R1208:Eftud2	UTSW	11	102,864,766 (GRCm38)	missense	probably benign	0.22
R1220:Eftud2	UTSW	11	102,851,747 (GRCm38)	splice site	probably benign
R1438:Eftud2	UTSW	11	102,860,042 (GRCm38)	missense	probably damaging	1.00
R1520:Eftud2	UTSW	11	102,839,440 (GRCm38)	missense	probably damaging	1.00
R1569:Eftud2	UTSW	11	102,854,771 (GRCm38)	splice site	probably benign
R2270:Eftud2	UTSW	11	102,864,781 (GRCm38)	missense	probably damaging	1.00
R3500:Eftud2	UTSW	11	102,844,180 (GRCm38)	missense	probably damaging	1.00
R3686:Eftud2	UTSW	11	102,844,201 (GRCm38)	missense	probably damaging	1.00
R3687:Eftud2	UTSW	11	102,844,201 (GRCm38)	missense	probably damaging	1.00
R3688:Eftud2	UTSW	11	102,844,201 (GRCm38)	missense	probably damaging	1.00
R3808:Eftud2	UTSW	11	102,841,463 (GRCm38)	splice site	probably null
R3892:Eftud2	UTSW	11	102,846,187 (GRCm38)	missense	probably damaging	0.99
R4003:Eftud2	UTSW	11	102,860,110 (GRCm38)	missense	possibly damaging	0.51
R4091:Eftud2	UTSW	11	102,839,416 (GRCm38)	splice site	probably null
R4794:Eftud2	UTSW	11	102,870,177 (GRCm38)	missense	probably benign	0.14
R4842:Eftud2	UTSW	11	102,854,814 (GRCm38)	missense	probably damaging	1.00
R5151:Eftud2	UTSW	11	102,867,844 (GRCm38)	critical splice donor site	probably null
R5208:Eftud2	UTSW	11	102,841,185 (GRCm38)	missense	probably damaging	1.00
R6199:Eftud2	UTSW	11	102,840,057 (GRCm38)	missense	probably damaging	1.00
R6357:Eftud2	UTSW	11	102,864,780 (GRCm38)	missense	probably damaging	1.00
R6720:Eftud2	UTSW	11	102,838,623 (GRCm38)	nonsense	probably null
R7604:Eftud2	UTSW	11	102,848,012 (GRCm38)	missense	possibly damaging	0.87
R7886:Eftud2	UTSW	11	102,840,108 (GRCm38)	missense	probably damaging	1.00
R8017:Eftud2	UTSW	11	102,843,348 (GRCm38)	critical splice donor site	probably null
R8019:Eftud2	UTSW	11	102,843,348 (GRCm38)	critical splice donor site	probably null
R8139:Eftud2	UTSW	11	102,867,859 (GRCm38)	missense	probably benign	0.04
R8431:Eftud2	UTSW	11	102,846,236 (GRCm38)	missense	probably benign	0.08
R8545:Eftud2	UTSW	11	102,840,271 (GRCm38)	missense	probably damaging	1.00
R8676:Eftud2	UTSW	11	102,868,621 (GRCm38)	missense	probably damaging	1.00
R9089:Eftud2	UTSW	11	102,869,145 (GRCm38)	missense	probably benign
R9173:Eftud2	UTSW	11	102,843,416 (GRCm38)	missense	probably damaging	1.00
R9277:Eftud2	UTSW	11	102,860,029 (GRCm38)	missense	probably damaging	1.00
R9313:Eftud2	UTSW	11	102,839,436 (GRCm38)	missense	probably benign	0.03
R9604:Eftud2	UTSW	11	102,846,230 (GRCm38)	missense	probably benign	0.11
R9664:Eftud2	UTSW	11	102,868,596 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCCAGGCAGATTACAAATGT -3'
(R):5'- ACTGTGATCACTCGAATCCTCTTC -3'

Sequencing Primer
(F):5'- GTTCACTGGCCAAGCAATCTAGG -3'
(R):5'- GATCACTCGAATCCTCTTCTTGGC -3'

Posted On

2016-03-01