Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Mtf2'

234606

Institutional Source

Beutler Lab

Gene Symbol

Mtf2

Ensembl Gene

ENSMUSG00000029267

Gene Name

metal response element binding transcription factor 2

Synonyms

Pcl2, C76717, 9230112N11Rik, M96

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108213540-108256870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108228797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 38 (K38E)

Ref Sequence

ENSEMBL: ENSMUSP00000132596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081567] [ENSMUST00000112626] [ENSMUST00000124195] [ENSMUST00000134026] [ENSMUST00000143412] [ENSMUST00000172045] [ENSMUST00000170319]

AlphaFold

Q02395

Predicted Effect

probably benign
Transcript: ENSMUST00000081567
AA Change: K38E

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: K38E

Domain	Start	End	E-Value	Type
TUDOR	44	101	4.09e-13	SMART
PHD	104	155	3.37e-11	SMART
PHD	203	253	1.23e-4	SMART
low complexity region	496	508	N/A	INTRINSIC
Pfam:Mtf2_C	544	591	2.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112626
AA Change: K38E

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: K38E

Domain	Start	End	E-Value	Type
TUDOR	44	101	4.09e-13	SMART
PHD	104	155	3.37e-11	SMART
PHD	203	253	1.23e-4	SMART
low complexity region	439	451	N/A	INTRINSIC
Pfam:Mtf2_C	485	535	5.8e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124195
AA Change: K38E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126297
Gene: ENSMUSG00000029267
AA Change: K38E

Domain	Start	End	E-Value	Type
PDB:2EQJ\|A	36	70	2e-17	PDB
Blast:TUDOR	44	75	7e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131291

Predicted Effect

probably benign
Transcript: ENSMUST00000134026
AA Change: K38E

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267
AA Change: K38E

Domain	Start	End	E-Value	Type
TUDOR	44	101	4.09e-13	SMART
PHD	104	155	3.37e-11	SMART
PHD	203	253	1.23e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141592

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143412
AA Change: K38E

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132596
Gene: ENSMUSG00000029267
AA Change: K38E

Domain	Start	End	E-Value	Type
TUDOR	44	101	1.22e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172045

SMART Domains

Protein: ENSMUSP00000126452
Gene: ENSMUSG00000029267

Domain	Start	End	E-Value	Type
PHD	2	50	2.18e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163195

Predicted Effect

probably benign
Transcript: ENSMUST00000170319

SMART Domains

Protein: ENSMUSP00000130536
Gene: ENSMUSG00000029267

Domain	Start	End	E-Value	Type
PHD	1	37	6.4e-3	SMART
PHD	85	135	1.23e-4	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit vertebral transformation and delayed replicative senescence in MEFs. Mice homozygous for one gene trap allele exhibit postnatal lethality, vertebral transformation and delayed replicative senescence in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,145,792 (GRCm39)	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Poc1a	T	A	9: 106,162,773 (GRCm39)		probably null	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het

Other mutations in Mtf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Mtf2	APN	5	108,254,756 (GRCm39)	missense	probably damaging	1.00
IGL01367:Mtf2	APN	5	108,252,323 (GRCm39)	missense	probably benign	0.44
IGL01452:Mtf2	APN	5	108,228,809 (GRCm39)	missense	probably damaging	1.00
IGL01459:Mtf2	APN	5	108,228,809 (GRCm39)	missense	probably damaging	1.00
IGL01460:Mtf2	APN	5	108,228,809 (GRCm39)	missense	probably damaging	1.00
IGL01809:Mtf2	APN	5	108,235,191 (GRCm39)	missense	probably benign	0.27
IGL03166:Mtf2	APN	5	108,254,586 (GRCm39)	missense	probably benign	0.28
R0667:Mtf2	UTSW	5	108,252,369 (GRCm39)	missense	probably damaging	1.00
R1533:Mtf2	UTSW	5	108,239,995 (GRCm39)	missense	probably damaging	1.00
R1664:Mtf2	UTSW	5	108,252,342 (GRCm39)	missense	probably damaging	1.00
R1723:Mtf2	UTSW	5	108,235,936 (GRCm39)	missense	probably damaging	1.00
R2213:Mtf2	UTSW	5	108,248,780 (GRCm39)	missense	possibly damaging	0.95
R3904:Mtf2	UTSW	5	108,228,866 (GRCm39)	missense	probably damaging	1.00
R4320:Mtf2	UTSW	5	108,234,891 (GRCm39)	missense	probably damaging	1.00
R4560:Mtf2	UTSW	5	108,234,855 (GRCm39)	splice site	probably null
R4764:Mtf2	UTSW	5	108,241,218 (GRCm39)	missense	probably benign	0.43
R4989:Mtf2	UTSW	5	108,220,894 (GRCm39)	intron	probably benign
R5305:Mtf2	UTSW	5	108,252,365 (GRCm39)	missense	possibly damaging	0.84
R5356:Mtf2	UTSW	5	108,254,476 (GRCm39)	missense	possibly damaging	0.92
R5528:Mtf2	UTSW	5	108,242,023 (GRCm39)	missense	probably damaging	1.00
R6021:Mtf2	UTSW	5	108,229,003 (GRCm39)	missense	possibly damaging	0.93
R7164:Mtf2	UTSW	5	108,241,235 (GRCm39)	missense	possibly damaging	0.53
R7426:Mtf2	UTSW	5	108,248,836 (GRCm39)	missense	probably benign
R7822:Mtf2	UTSW	5	108,228,743 (GRCm39)	nonsense	probably null
R8033:Mtf2	UTSW	5	108,234,951 (GRCm39)	missense	probably damaging	0.99
R8872:Mtf2	UTSW	5	108,247,051 (GRCm39)	missense	probably benign	0.18
R8991:Mtf2	UTSW	5	108,248,805 (GRCm39)	missense	probably benign	0.01
R9067:Mtf2	UTSW	5	108,252,133 (GRCm39)	missense	probably benign
R9139:Mtf2	UTSW	5	108,252,398 (GRCm39)	critical splice donor site	probably null
R9177:Mtf2	UTSW	5	108,234,949 (GRCm39)	missense	probably benign	0.04
Z1088:Mtf2	UTSW	5	108,235,195 (GRCm39)	missense	probably damaging	0.97
Z1176:Mtf2	UTSW	5	108,235,810 (GRCm39)	missense	probably damaging	1.00
Z1177:Mtf2	UTSW	5	108,228,754 (GRCm39)	missense	possibly damaging	0.63
Z1177:Mtf2	UTSW	5	108,213,768 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGTTACCCCGATACAGAAATG -3'
(R):5'- CCCTTAAAACTGCTAAGCATGAGG -3'

Sequencing Primer
(F):5'- CCCGATACAGAAATGACTTCTTGAG -3'
(R):5'- GTTCCAAGATAAAACAAGCC -3'

Posted On

2014-10-01