Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Mterf4'

648417

Institutional Source

Beutler Lab

Gene Symbol

Mterf4

Ensembl Gene

ENSMUSG00000026273

Gene Name

mitochondrial transcription termination factor 4

Synonyms

4933412H03Rik, Mterfd2, 1810059A23Rik

MMRRC Submission

045969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93228927-93233601 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 93229275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 246 (L246*)

Ref Sequence

ENSEMBL: ENSMUSP00000108566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000062202] [ENSMUST00000112942] [ENSMUST00000112944]

AlphaFold

Q8BVN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027492
AA Change: F316L

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

SMART Domains

Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273
AA Change: F316L

Domain	Start	End	E-Value	Type
low complexity region	124	136	N/A	INTRINSIC
Mterf	142	172	1.28e2	SMART
Mterf	177	208	1.1e1	SMART
Mterf	213	244	3.89e0	SMART
Mterf	246	274	2.06e2	SMART
low complexity region	323	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062202

SMART Domains

Protein: ENSMUSP00000050832
Gene: ENSMUSG00000047793

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
NIDO	103	260	2.98e-54	SMART
EGF	271	309	3.79e-6	SMART
EGF_CA	311	347	2.42e-13	SMART
EGF	352	385	1.02e-6	SMART
EGF_CA	387	423	1.91e-11	SMART
EGF	432	465	2.96e-8	SMART
EGF	471	500	6.02e0	SMART
EGF	544	577	3.54e-6	SMART
EGF	583	616	6.06e-5	SMART
EGF_CA	619	655	2.33e-6	SMART
EGF	660	693	1.77e-6	SMART
CCP	698	751	2.5e-11	SMART
EGF_CA	753	789	1.66e-11	SMART
EGF_CA	791	827	1.38e-8	SMART
EGF_CA	829	865	1.92e-7	SMART
EGF	870	903	2.35e-2	SMART
FN3	906	991	1.7e-4	SMART
FN3	1005	1084	1.38e-4	SMART
FN3	1104	1185	1.6e-9	SMART
EGF	1309	1342	6.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112942

SMART Domains

Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273

Domain	Start	End	E-Value	Type
PDB:4FP9\|H	50	235	7e-55	PDB
Blast:Mterf	142	167	1e-7	BLAST
Blast:Mterf	178	208	8e-13	BLAST
Blast:Mterf	213	235	6e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000112944
AA Change: L246*

SMART Domains

Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273
AA Change: L246*

Domain	Start	End	E-Value	Type
PDB:4FP9\|H	50	235	6e-54	PDB
Blast:Mterf	142	167	6e-8	BLAST
Blast:Mterf	178	208	2e-12	BLAST
Blast:Mterf	213	235	1e-7	BLAST
low complexity region	253	273	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality associated with decreased embryo size, lack of heart, and absence of optic discs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,211,180 (GRCm39)	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 69,083,067 (GRCm39)		probably null	Het
Abi3	A	T	11: 95,723,619 (GRCm39)	Y342N	unknown	Het
Adk	G	A	14: 21,368,111 (GRCm39)	V195I	probably benign	Het
Ago2	C	T	15: 72,998,375 (GRCm39)	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,835,615 (GRCm39)	I1077V	probably benign	Het
Arap1	A	T	7: 101,053,621 (GRCm39)	K1317*	probably null	Het
Auts2	T	A	5: 131,469,211 (GRCm39)	D493V		Het
Baz1b	A	T	5: 135,260,533 (GRCm39)	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,546,957 (GRCm39)	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,493,858 (GRCm39)	M511K	probably benign	Het
Cdh23	T	A	10: 60,218,485 (GRCm39)	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,380,962 (GRCm39)	L427V	unknown	Het
Cnga1	A	G	5: 72,762,225 (GRCm39)	F430L	possibly damaging	Het
Csnk2a1-ps3	A	T	1: 156,352,562 (GRCm39)	L254F	probably damaging	Het
Dnhd1	A	T	7: 105,317,721 (GRCm39)	D472V	probably damaging	Het
Dock2	T	A	11: 34,598,154 (GRCm39)	E339V	probably benign	Het
Eif3a	A	T	19: 60,764,280 (GRCm39)	V379E	probably damaging	Het
Erich4	T	A	7: 25,315,168 (GRCm39)	N36Y	probably damaging	Het
Frem2	T	C	3: 53,560,725 (GRCm39)	T1261A	probably damaging	Het
Fzd6	A	T	15: 38,894,503 (GRCm39)	D223V	probably damaging	Het
Gabra2	A	T	5: 71,165,315 (GRCm39)	Y218*	probably null	Het
Gcn1	G	T	5: 115,752,527 (GRCm39)	M2177I	probably benign	Het
Ghr	G	A	15: 3,370,556 (GRCm39)	T103I	possibly damaging	Het
Gipc1	T	C	8: 84,387,857 (GRCm39)	V79A	probably benign	Het
Gm13272	T	A	4: 88,698,577 (GRCm39)	V164D	probably damaging	Het
Gramd4	C	A	15: 86,016,159 (GRCm39)	H503Q	probably benign	Het
Gstm4	A	T	3: 107,951,987 (GRCm39)	M1K	probably null	Het
Heatr5b	T	A	17: 79,067,988 (GRCm39)	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,836,978 (GRCm39)	K826*	probably null	Het
Hoxa9	T	C	6: 52,201,289 (GRCm39)	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,679,177 (GRCm39)	I46F	possibly damaging	Het
Ints2	T	A	11: 86,135,453 (GRCm39)	R320S	probably benign	Het
Iscu	A	T	5: 113,912,343 (GRCm39)	N46I	probably damaging	Het
Iscu	G	A	5: 113,912,410 (GRCm39)	R60Q	unknown	Het
Kcnk3	A	T	5: 30,745,875 (GRCm39)	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,754,157 (GRCm39)	S1228R	unknown	Het
Mbl2	T	A	19: 30,216,638 (GRCm39)	L150Q	probably damaging	Het
Med13	A	T	11: 86,161,831 (GRCm39)	F2166Y	probably damaging	Het
Muc16	T	C	9: 18,496,121 (GRCm39)	Q6690R	probably benign	Het
Myh10	T	A	11: 68,699,719 (GRCm39)	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,218,454 (GRCm39)	M237V	probably benign	Het
Olfml1	A	G	7: 107,170,356 (GRCm39)	Y81C	probably damaging	Het
Or4q3	A	G	14: 50,583,872 (GRCm39)	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,849,226 (GRCm39)	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,897,002 (GRCm39)	F691L	probably benign	Het
Pik3c2a	A	G	7: 115,990,517 (GRCm39)	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,424,701 (GRCm39)	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,799,013 (GRCm39)	H2250Y		Het
Pkd1l1	A	G	11: 8,859,857 (GRCm39)	S1034P		Het
Plcd1	C	A	9: 118,903,720 (GRCm39)	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 21,174,879 (GRCm39)	T58A	probably benign	Het
Ppp5c	T	C	7: 16,761,725 (GRCm39)	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,424,950 (GRCm39)	F82L	probably benign	Het
Prkag3	A	T	1: 74,780,416 (GRCm39)	S416R	probably benign	Het
Rab3gap2	T	C	1: 184,982,117 (GRCm39)	C390R	probably benign	Het
Rhot1	A	G	11: 80,156,629 (GRCm39)	T655A	probably benign	Het
Rorc	A	G	3: 94,298,495 (GRCm39)	I348V	probably damaging	Het
Ryr1	A	T	7: 28,796,649 (GRCm39)	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,478,626 (GRCm39)		probably null	Het
Serpinb3c	G	A	1: 107,199,744 (GRCm39)	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,326,438 (GRCm39)	M70K	probably damaging	Het
Sinhcaf	T	A	6: 148,827,644 (GRCm39)	T125S	probably benign	Het
Slc7a4	C	T	16: 17,391,230 (GRCm39)	V607I	probably benign	Het
Spop	A	T	11: 95,362,154 (GRCm39)	N62Y	probably damaging	Het
Spout1	A	G	2: 30,066,823 (GRCm39)	F130S	probably benign	Het
Tab1	A	G	15: 80,043,066 (GRCm39)	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,899,076 (GRCm39)		probably null	Het
Tnxb	G	C	17: 34,933,577 (GRCm39)	K2332N	probably damaging	Het
Togaram1	T	C	12: 65,014,512 (GRCm39)	Y588H	probably damaging	Het
Trim71	G	A	9: 114,342,153 (GRCm39)	R710C	probably damaging	Het
Tsen54	C	T	11: 115,711,608 (GRCm39)	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812 (GRCm39)	N235K	unknown	Het
Utrn	C	A	10: 12,543,271 (GRCm39)	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 20,867,587 (GRCm39)	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 19,901,636 (GRCm39)	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,831,683 (GRCm39)	R369W	probably damaging	Het
Vwa7	G	T	17: 35,243,409 (GRCm39)	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,159,647 (GRCm39)	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,874 (GRCm39)	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,600,511 (GRCm39)	V415D	possibly damaging	Het
Zfp553	A	G	7: 126,835,768 (GRCm39)	H441R	probably damaging	Het

Other mutations in Mterf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01102:Mterf4	APN	1	93,232,812 (GRCm39)	missense	possibly damaging	0.83
IGL01686:Mterf4	APN	1	93,232,443 (GRCm39)	nonsense	probably null
IGL01770:Mterf4	APN	1	93,232,716 (GRCm39)	missense	probably damaging	1.00
IGL01801:Mterf4	APN	1	93,232,642 (GRCm39)	missense	probably benign	0.02
IGL01881:Mterf4	APN	1	93,232,363 (GRCm39)	missense	probably damaging	1.00
IGL02393:Mterf4	APN	1	93,230,601 (GRCm39)	missense	possibly damaging	0.81
IGL02413:Mterf4	APN	1	93,230,526 (GRCm39)	missense	probably damaging	1.00
IGL02812:Mterf4	APN	1	93,232,455 (GRCm39)	missense	probably damaging	1.00
R4083:Mterf4	UTSW	1	93,232,380 (GRCm39)	missense	possibly damaging	0.85
R4726:Mterf4	UTSW	1	93,229,471 (GRCm39)	missense	probably damaging	0.98
R4926:Mterf4	UTSW	1	93,232,647 (GRCm39)	missense	probably benign	0.05
R6091:Mterf4	UTSW	1	93,229,291 (GRCm39)	missense	probably damaging	1.00
R7065:Mterf4	UTSW	1	93,232,617 (GRCm39)	missense	probably benign	0.01
R7780:Mterf4	UTSW	1	93,232,689 (GRCm39)	missense	probably benign	0.01
R9083:Mterf4	UTSW	1	93,229,515 (GRCm39)	nonsense	probably null
R9539:Mterf4	UTSW	1	93,229,188 (GRCm39)	missense	unknown
X0065:Mterf4	UTSW	1	93,229,420 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTTGAGAAGATCCAGGTG -3'
(R):5'- TTTCAGGATGGGACTCACAC -3'

Sequencing Primer
(F):5'- AAGATCCAGGTGAAGGTCCCC -3'
(R):5'- TGGGACTCACACATCTAGACATAGTC -3'

Posted On

2020-09-15