Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Mtrf1'

205432

Institutional Source

Beutler Lab

Gene Symbol

Mtrf1

Ensembl Gene

ENSMUSG00000022022

Gene Name

mitochondrial translational release factor 1

Synonyms

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R1837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79397772-79423587 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79401833 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 135 (E135G)

Ref Sequence

ENSEMBL: ENSMUSP00000022600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022600]

AlphaFold

Q8K126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022600
AA Change: E135G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022600
Gene: ENSMUSG00000022022
AA Change: E135G

Domain	Start	End	E-Value	Type
low complexity region	104	119	N/A	INTRINSIC
low complexity region	122	133	N/A	INTRINSIC
PCRF	139	255	5.96e-27	SMART
Pfam:RF-1	290	400	2.6e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227610

Meta Mutation Damage Score

0.1371

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,553,042	G305W	probably damaging	Het
Actr3b	A	T	5: 25,825,159	T74S	probably benign	Het
Add2	A	G	6: 86,118,558	E652G	probably damaging	Het
Alg9	T	A	9: 50,806,315	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Bcr	A	G	10: 75,168,100		probably benign	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Bzw1	A	G	1: 58,400,118	K67E	probably damaging	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Cdc73	T	A	1: 143,667,657	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813	T31A	probably damaging	Het
Cfap58	G	A	19: 48,029,139	E813K	probably damaging	Het
Clstn2	C	A	9: 97,583,540	A133S	probably benign	Het
Col14a1	A	T	15: 55,382,495	D465V	unknown	Het
Col2a1	C	T	15: 97,996,641		probably benign	Het
Dab2	A	G	15: 6,336,476		probably benign	Het
Eme1	T	C	11: 94,645,961	D464G	probably benign	Het
Eml6	T	C	11: 29,749,802		probably null	Het
Ern1	C	A	11: 106,458,957	L44F	probably damaging	Het
Fam111a	T	A	19: 12,587,452	S188R	probably benign	Het
Fam151b	A	T	13: 92,474,131		probably benign	Het
Fmo6	T	C	1: 162,922,810	N226D	probably benign	Het
Ggt1	A	G	10: 75,579,294	D214G	probably benign	Het
Gm14226	A	G	2: 155,025,010	I296V	probably benign	Het
Gm9915	A	T	1: 42,230,687		noncoding transcript	Het
Heatr5b	T	C	17: 78,820,751	D485G	possibly damaging	Het
Helz2	A	T	2: 181,229,289	I2785N	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Hydin	C	A	8: 110,569,625	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krt7	A	G	15: 101,419,582	D252G	probably benign	Het
Lad1	C	A	1: 135,829,706	D394E	probably benign	Het
Lhx8	A	T	3: 154,328,055	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,469,175	T280M	probably damaging	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Med1	G	T	11: 98,169,412	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409	F171I	probably damaging	Het
Mprip	T	C	11: 59,766,745	V801A	probably damaging	Het
Muc5ac	T	A	7: 141,807,086	M1378K	probably benign	Het
Myo3a	A	T	2: 22,577,592	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,248,396	G391R	probably damaging	Het
Nefl	C	T	14: 68,086,626	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,548,916	V440I	probably benign	Het
Notch3	A	T	17: 32,124,322	L1959Q	probably damaging	Het
Noto	A	G	6: 85,424,177	T63A	probably benign	Het
Oc90	G	A	15: 65,889,680	T163M	probably damaging	Het
Olfr1219	A	T	2: 89,074,832	Y86*	probably null	Het
Olfr1436	A	G	19: 12,298,376	V252A	probably damaging	Het
Olfr365	T	A	2: 37,202,102	M287K	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Phlda1	A	G	10: 111,507,231	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,733,626	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,341,626	E1364G	probably benign	Het
Rabep1	T	A	11: 70,904,658	W237R	probably damaging	Het
Rai1	A	T	11: 60,189,398	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,737,426	I1027M	probably damaging	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Rpap1	A	C	2: 119,769,885		probably null	Het
Senp7	T	A	16: 56,158,516	C471S	probably benign	Het
Slc16a14	A	G	1: 84,912,399	V395A	probably benign	Het
Slc45a1	C	T	4: 150,638,459	G323S	probably benign	Het
Syne2	A	T	12: 75,967,660	E3208D	probably damaging	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,270,799	E432G	possibly damaging	Het
Tmem192	C	A	8: 64,964,340		probably benign	Het
Trub1	T	C	19: 57,453,029	V28A	probably benign	Het
Ttc21b	A	T	2: 66,197,762	L1121H	probably benign	Het
Ttc38	A	G	15: 85,851,563	D290G	probably damaging	Het
Ulk1	C	T	5: 110,789,381	G683D	probably damaging	Het
Vmn1r122	A	T	7: 21,133,366	F255I	probably benign	Het
Vmn2r68	T	A	7: 85,233,678	I289F	probably damaging	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Wdr48	T	G	9: 119,905,416	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,349	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,029,333	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,686,995	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264	S927P	probably damaging	Het
Zfp324	C	T	7: 12,970,229	T115I	probably benign	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp945	A	T	17: 22,851,273	C551S	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	possibly damaging	Het

Other mutations in Mtrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Mtrf1	APN	14	79423425	missense	probably benign	0.10
IGL01478:Mtrf1	APN	14	79402920	splice site	probably benign
IGL01866:Mtrf1	APN	14	79401508	missense	probably benign
IGL02290:Mtrf1	APN	14	79401811	nonsense	probably null
IGL02929:Mtrf1	APN	14	79402833	missense	probably benign	0.00
IGL03342:Mtrf1	APN	14	79415980	missense	possibly damaging	0.80
IGL03342:Mtrf1	APN	14	79415871	splice site	probably benign
IGL03342:Mtrf1	APN	14	79415872	splice site	probably null
R0212:Mtrf1	UTSW	14	79419279	missense	probably benign	0.02
R0560:Mtrf1	UTSW	14	79406850	missense	probably damaging	1.00
R0604:Mtrf1	UTSW	14	79415887	missense	possibly damaging	0.92
R0669:Mtrf1	UTSW	14	79419268	nonsense	probably null
R0981:Mtrf1	UTSW	14	79401590	missense	probably benign	0.04
R1969:Mtrf1	UTSW	14	79401671	missense	probably damaging	1.00
R3883:Mtrf1	UTSW	14	79419267	missense	probably damaging	1.00
R4739:Mtrf1	UTSW	14	79413080	missense	probably damaging	1.00
R4748:Mtrf1	UTSW	14	79411650	missense	probably damaging	1.00
R4780:Mtrf1	UTSW	14	79401688	missense	probably benign	0.02
R4965:Mtrf1	UTSW	14	79406587	missense	probably benign
R5616:Mtrf1	UTSW	14	79401445	missense	possibly damaging	0.68
R6530:Mtrf1	UTSW	14	79402891	missense	possibly damaging	0.89
R6776:Mtrf1	UTSW	14	79413081	missense	probably damaging	1.00
R7095:Mtrf1	UTSW	14	79423491	frame shift	probably null
R7182:Mtrf1	UTSW	14	79423464	missense	possibly damaging	0.60
R7254:Mtrf1	UTSW	14	79423491	frame shift	probably null
R7871:Mtrf1	UTSW	14	79406938	missense	probably benign	0.19
R8249:Mtrf1	UTSW	14	79401479	missense	probably benign	0.23
R9593:Mtrf1	UTSW	14	79419224	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCCTACAGAAGTATATGGAAGAC -3'
(R):5'- AGAGCCTGGACTCTTAGCAG -3'

Sequencing Primer
(F):5'- CCTGAATAAAGAGTACCAAACCCTTG -3'
(R):5'- GACTCTTAGCAGACCCTTAGTAACTG -3'

Posted On

2014-06-23