Mutagenetix > Incidental Mutation

Incidental Mutation 'R9664:Eftud2'

735645

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102838473-102880985 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 102868596 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 160 (Y160*)

Ref Sequence

ENSEMBL: ENSMUSP00000102675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000107060] [ENSMUST00000138483] [ENSMUST00000173679]

AlphaFold

O08810

Predicted Effect

probably null
Transcript: ENSMUST00000021306
AA Change: Y161*

SMART Domains

Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929
AA Change: Y161*

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

probably null
Transcript: ENSMUST00000107060
AA Change: Y160*

SMART Domains

Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929
AA Change: Y160*

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

probably benign
Transcript: ENSMUST00000138483

Predicted Effect

probably null
Transcript: ENSMUST00000173679
AA Change: Y151*

SMART Domains

Protein: ENSMUSP00000134327
Gene: ENSMUSG00000020929
AA Change: Y151*

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	G	A	15: 76,594,183	D277N	probably damaging	Het
Adgrv1	A	T	13: 81,522,169	S2353T	probably benign	Het
Adgrv1	A	T	13: 81,595,252	N43K	probably damaging	Het
Adnp2	A	G	18: 80,142,722	I12T	probably damaging	Het
Ahnak2	A	G	12: 112,774,929	L903P	probably damaging	Het
Ankhd1	T	G	18: 36,647,825	S1977A	probably benign	Het
Ap1m2	T	C	9: 21,305,687	M118V	probably benign	Het
Ap3d1	T	C	10: 80,712,805	K846R	possibly damaging	Het
Aqr	C	A	2: 114,140,915	E480*	probably null	Het
Arl6	G	T	16: 59,613,836	Q182K	probably benign	Het
Arpc2	A	G	1: 74,254,875	K106E	probably benign	Het
Atp8a1	A	C	5: 67,732,181	F599V		Het
B3galt5	A	T	16: 96,316,003	I279F	probably damaging	Het
Calcoco2	G	T	11: 96,100,278	A211D	unknown	Het
Ccdc33	T	C	9: 58,086,572	E342G	possibly damaging	Het
Ccdc88a	C	A	11: 29,455,484	Q386K	probably benign	Het
Cdh20	A	G	1: 104,934,340	K82E	probably benign	Het
Clca3a2	A	T	3: 144,797,814	Y792N	probably damaging	Het
Col6a6	T	C	9: 105,781,055	I653V	probably benign	Het
Col7a1	C	T	9: 108,983,581	R2826W	unknown	Het
D6Ertd527e	A	G	6: 87,111,926	N357S	unknown	Het
Dmgdh	T	A	13: 93,720,615	N742K	probably benign	Het
Dnajc6	A	G	4: 101,618,624	N565D	probably benign	Het
Doc2g	A	G	19: 4,004,390	Y155C	probably damaging	Het
Dot1l	G	A	10: 80,788,527	G943D	probably damaging	Het
Dst	T	C	1: 34,181,655	V2180A	probably benign	Het
Ehd1	A	T	19: 6,281,232	Q140L	probably benign	Het
Etv3	T	C	3: 87,535,865	V252A	probably benign	Het
F11	A	T	8: 45,241,529	C598*	probably null	Het
Fancm	T	A	12: 65,090,984	N316K	probably benign	Het
Flnc	T	C	6: 29,457,215	V2372A	probably damaging	Het
Fry	A	G	5: 150,359,023	R338G	probably damaging	Het
Gfra3	T	C	18: 34,704,538	T136A	probably benign	Het
Golga7b	T	C	19: 42,267,023	V113A	possibly damaging	Het
Gpn3	G	T	5: 122,382,243	V102L		Het
Herc2	A	G	7: 56,170,590	N2859S	possibly damaging	Het
Hpd	A	T	5: 123,180,885		probably null	Het
Hspg2	C	T	4: 137,539,576	T1964I	probably benign	Het
Hydin	A	T	8: 110,494,333	T1454S	probably benign	Het
Irgm2	A	T	11: 58,220,046	T188S	possibly damaging	Het
Jak3	A	G	8: 71,678,722	D77G	probably damaging	Het
Kcnj4	G	T	15: 79,485,019	F253L	possibly damaging	Het
Kidins220	T	A	12: 25,056,896	D1358E	probably benign	Het
Klf1	C	A	8: 84,903,432	C295*	probably null	Het
Kmt2a	C	T	9: 44,848,805	W582*	probably null	Het
Lrig2	A	G	3: 104,464,240	C716R	probably damaging	Het
Lrp1b	C	T	2: 40,874,992	D2941N		Het
Lrpprc	A	T	17: 84,712,834	V1141E	probably damaging	Het
Mrgprx1	C	T	7: 48,021,525	G158D	probably benign	Het
Muc5b	C	A	7: 141,855,542	A1121D	unknown	Het
Nf1	G	T	11: 79,443,907	V852L	probably damaging	Het
Nlrp5	A	G	7: 23,418,861	E670G	probably benign	Het
Notch4	A	G	17: 34,565,627	T101A	probably benign	Het
Olfr1487	G	A	19: 13,620,001	V237I	probably benign	Het
Olfr517	T	C	7: 108,868,356	Y266C	probably damaging	Het
Olfr721-ps1	T	A	14: 14,407,963	I245K	probably benign	Het
P2rx2	T	C	5: 110,340,306	T461A	probably benign	Het
Pank1	G	A	19: 34,821,794	T419I	probably damaging	Het
Patz1	T	C	11: 3,294,562	V481A	unknown	Het
Pdlim5	A	G	3: 142,312,297	L179P	probably benign	Het
Pik3ap1	A	T	19: 41,308,528	V461D	probably damaging	Het
Polq	T	C	16: 37,027,814	V261A	probably damaging	Het
Ppm1a	G	A	12: 72,790,677	V333M	possibly damaging	Het
R3hcc1l	T	C	19: 42,564,232	L556P	probably benign	Het
Rabggta	G	A	14: 55,718,918	Q365*	probably null	Het
Ranbp9	T	C	13: 43,425,043	T185A	probably benign	Het
Rd3l	T	G	12: 111,979,479	N189H	probably damaging	Het
Rnf17	A	G	14: 56,485,179	T1066A	probably damaging	Het
Rnf213	G	A	11: 119,441,968	A2669T		Het
Ros1	T	A	10: 52,120,835	H1268L	probably benign	Het
Rps6ka4	G	T	19: 6,831,986	S433R	possibly damaging	Het
Ryr1	A	G	7: 29,059,667	L3362P	probably damaging	Het
Setd1b	A	T	5: 123,159,983	T1361S	unknown	Het
Setd2	T	C	9: 110,548,502	S462P	probably damaging	Het
Sgsm3	A	T	15: 81,006,734	Q132L	probably benign	Het
Slx1b	C	A	7: 126,692,526	R122L	probably damaging	Het
Sorbs2	A	T	8: 45,823,751	T1167S	probably benign	Het
Spdya	A	C	17: 71,562,518	T103P	probably damaging	Het
Stfa2	A	G	16: 36,408,276	S20P	probably benign	Het
Sulf1	A	G	1: 12,820,802	T400A	probably benign	Het
Tardbp	A	T	4: 148,625,294	D23E	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tgm1	C	T	14: 55,710,984	D237N	probably benign	Het
Tgs1	T	A	4: 3,585,964	N280K	probably benign	Het
Tmem198	A	T	1: 75,482,628	I76F	possibly damaging	Het
Trpv2	A	T	11: 62,584,559	Y266F	probably damaging	Het
Ttn	C	T	2: 76,739,501	G27016E	probably damaging	Het
Ttn	T	C	2: 76,951,480	E1074G	unknown	Het
Unc5b	A	T	10: 60,777,543	W305R	probably damaging	Het
Usp38	A	G	8: 81,014,535		probably benign	Het
Vmn1r79	A	G	7: 12,176,655	T155A	probably benign	Het
Vwce	G	A	19: 10,638,117	V121I	probably benign	Het
Wdr63	T	C	3: 146,042,839	N840S	probably benign	Het
Wdr91	A	T	6: 34,889,026	D530E	probably benign	Het
Wnt4	A	G	4: 137,296,618	T299A	probably benign	Het
Yeats2	T	A	16: 20,228,741	Y1284*	probably null	Het
Zfp113	A	T	5: 138,150,626	Y85*	probably null	Het
Zfp184	A	G	13: 21,959,926	T601A	probably benign	Het
Zfp655	A	G	5: 145,243,632	E100G	probably damaging	Het

Other mutations in Eftud2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Eftud2	APN	11	102865563	splice site	probably benign
IGL01765:Eftud2	APN	11	102839256	missense	probably damaging	0.99
IGL01868:Eftud2	APN	11	102869127	missense	probably benign	0.08
IGL02161:Eftud2	APN	11	102854876	splice site	probably benign
IGL02165:Eftud2	APN	11	102851747	splice site	probably benign
IGL02218:Eftud2	APN	11	102870213	missense	possibly damaging	0.46
IGL02386:Eftud2	APN	11	102851754	splice site	probably null
IGL02664:Eftud2	APN	11	102841712	missense	probably damaging	1.00
IGL02677:Eftud2	APN	11	102846614	missense	probably damaging	1.00
IGL02792:Eftud2	APN	11	102870256	splice site	probably benign
IGL02870:Eftud2	APN	11	102862626	missense	probably damaging	0.97
IGL03131:Eftud2	APN	11	102870183	missense	probably damaging	1.00
R0137:Eftud2	UTSW	11	102868617	missense	possibly damaging	0.94
R0244:Eftud2	UTSW	11	102864725	missense	probably damaging	0.97
R0358:Eftud2	UTSW	11	102864801	splice site	probably benign
R0463:Eftud2	UTSW	11	102864771	missense	probably damaging	1.00
R0511:Eftud2	UTSW	11	102844222	missense	probably damaging	1.00
R0525:Eftud2	UTSW	11	102839253	missense	probably damaging	1.00
R0586:Eftud2	UTSW	11	102846620	missense	probably damaging	1.00
R0751:Eftud2	UTSW	11	102839253	missense	probably damaging	1.00
R1034:Eftud2	UTSW	11	102849184	missense	probably benign
R1079:Eftud2	UTSW	11	102840044	nonsense	probably null
R1208:Eftud2	UTSW	11	102864766	missense	probably benign	0.22
R1208:Eftud2	UTSW	11	102864766	missense	probably benign	0.22
R1220:Eftud2	UTSW	11	102851747	splice site	probably benign
R1438:Eftud2	UTSW	11	102860042	missense	probably damaging	1.00
R1520:Eftud2	UTSW	11	102839440	missense	probably damaging	1.00
R1569:Eftud2	UTSW	11	102854771	splice site	probably benign
R2270:Eftud2	UTSW	11	102864781	missense	probably damaging	1.00
R3500:Eftud2	UTSW	11	102844180	missense	probably damaging	1.00
R3686:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3687:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3688:Eftud2	UTSW	11	102844201	missense	probably damaging	1.00
R3808:Eftud2	UTSW	11	102841463	splice site	probably null
R3892:Eftud2	UTSW	11	102846187	missense	probably damaging	0.99
R4003:Eftud2	UTSW	11	102860110	missense	possibly damaging	0.51
R4091:Eftud2	UTSW	11	102839416	splice site	probably null
R4794:Eftud2	UTSW	11	102870177	missense	probably benign	0.14
R4841:Eftud2	UTSW	11	102854814	missense	probably damaging	1.00
R4842:Eftud2	UTSW	11	102854814	missense	probably damaging	1.00
R5151:Eftud2	UTSW	11	102867844	critical splice donor site	probably null
R5208:Eftud2	UTSW	11	102841185	missense	probably damaging	1.00
R6199:Eftud2	UTSW	11	102840057	missense	probably damaging	1.00
R6357:Eftud2	UTSW	11	102864780	missense	probably damaging	1.00
R6720:Eftud2	UTSW	11	102838623	nonsense	probably null
R7604:Eftud2	UTSW	11	102848012	missense	possibly damaging	0.87
R7886:Eftud2	UTSW	11	102840108	missense	probably damaging	1.00
R8017:Eftud2	UTSW	11	102843348	critical splice donor site	probably null
R8019:Eftud2	UTSW	11	102843348	critical splice donor site	probably null
R8139:Eftud2	UTSW	11	102867859	missense	probably benign	0.04
R8431:Eftud2	UTSW	11	102846236	missense	probably benign	0.08
R8545:Eftud2	UTSW	11	102840271	missense	probably damaging	1.00
R8676:Eftud2	UTSW	11	102868621	missense	probably damaging	1.00
R9089:Eftud2	UTSW	11	102869145	missense	probably benign
R9173:Eftud2	UTSW	11	102843416	missense	probably damaging	1.00
R9277:Eftud2	UTSW	11	102860029	missense	probably damaging	1.00
R9313:Eftud2	UTSW	11	102839436	missense	probably benign	0.03
R9604:Eftud2	UTSW	11	102846230	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GATCCCAAATGCAGAACGGATC -3'
(R):5'- GTGTTAATCCTTTGCTGTCCCATAG -3'

Sequencing Primer
(F):5'- CGGATCACCTAAAAATAATGCAGG -3'
(R):5'- AATCCTTTGCTGTCCCATAGTTCTC -3'

Posted On

2022-11-14