Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Mtf2'

557794

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108065674-108109004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108093369 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 254 (S254T)

Ref Sequence

ENSEMBL: ENSMUSP00000080278 (fasta)

Gene Model

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

AlphaFold

Q02395

PDB Structure

Solution structure of the TUDOR domain of Metal-response element-binding transcription factor 2 [SOLUTION NMR]
Solution structure of the PHD domain of Metal-response element-binding transcription factor 2 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081567
AA Change: S254T

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: S254T

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: S254T

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: S254T

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

probably benign
Transcript: ENSMUST00000124195

SMART Domains

Protein: ENSMUSP00000126297
Gene: ENSMUSG00000029267

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129921
AA Change: S28T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably damaging
Transcript: ENSMUST00000134026
AA Change: S254T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267
AA Change: S254T

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

probably benign
Transcript: ENSMUST00000137996
AA Change: S159T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000121697
Gene: ENSMUSG00000029267
AA Change: S159T

Domain	Start	End	E-Value	Type
PHD	10	61	3.37e-11	SMART
PHD	109	159	1.23e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143412

SMART Domains

Protein: ENSMUSP00000132596
Gene: ENSMUSG00000029267

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170319
AA Change: S136T

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130536
Gene: ENSMUSG00000029267
AA Change: S136T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	Het

Other mutations in Mtf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Mtf2	APN	5	108106890	missense	probably damaging	1.00
IGL01367:Mtf2	APN	5	108104457	missense	probably benign	0.44
IGL01452:Mtf2	APN	5	108080943	missense	probably damaging	1.00
IGL01459:Mtf2	APN	5	108080943	missense	probably damaging	1.00
IGL01460:Mtf2	APN	5	108080943	missense	probably damaging	1.00
IGL01809:Mtf2	APN	5	108087325	missense	probably benign	0.27
IGL03166:Mtf2	APN	5	108106720	missense	probably benign	0.28
R0667:Mtf2	UTSW	5	108104503	missense	probably damaging	1.00
R1533:Mtf2	UTSW	5	108092129	missense	probably damaging	1.00
R1664:Mtf2	UTSW	5	108104476	missense	probably damaging	1.00
R1723:Mtf2	UTSW	5	108088070	missense	probably damaging	1.00
R2154:Mtf2	UTSW	5	108080931	missense	possibly damaging	0.79
R2213:Mtf2	UTSW	5	108100914	missense	possibly damaging	0.95
R3904:Mtf2	UTSW	5	108081000	missense	probably damaging	1.00
R4320:Mtf2	UTSW	5	108087025	missense	probably damaging	1.00
R4560:Mtf2	UTSW	5	108086989	splice site	probably null
R4764:Mtf2	UTSW	5	108093352	missense	probably benign	0.43
R4989:Mtf2	UTSW	5	108073028	intron	probably benign
R5305:Mtf2	UTSW	5	108104499	missense	possibly damaging	0.84
R5356:Mtf2	UTSW	5	108106610	missense	possibly damaging	0.92
R5528:Mtf2	UTSW	5	108094157	missense	probably damaging	1.00
R6021:Mtf2	UTSW	5	108081137	missense	possibly damaging	0.93
R7426:Mtf2	UTSW	5	108100970	missense	probably benign
R7822:Mtf2	UTSW	5	108080877	nonsense	probably null
R8033:Mtf2	UTSW	5	108087085	missense	probably damaging	0.99
R8872:Mtf2	UTSW	5	108099185	missense	probably benign	0.18
R8991:Mtf2	UTSW	5	108100939	missense	probably benign	0.01
R9067:Mtf2	UTSW	5	108104267	missense	probably benign
R9139:Mtf2	UTSW	5	108104532	critical splice donor site	probably null
R9177:Mtf2	UTSW	5	108087083	missense	probably benign	0.04
Z1088:Mtf2	UTSW	5	108087329	missense	probably damaging	0.97
Z1176:Mtf2	UTSW	5	108087944	missense	probably damaging	1.00
Z1177:Mtf2	UTSW	5	108065902	start gained	probably benign
Z1177:Mtf2	UTSW	5	108080888	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- GGAAATTGTCCCTTACCCCTAGATAG -3'
(R):5'- TGGTTAAATGGATAATCCTGAAGCC -3'

Sequencing Primer
(F):5'- CCTTACCCCTAGATAGGAATTGTTGG -3'
(R):5'- TCCTGAAGCCAGTATAAGCCTTGAG -3'

Posted On

2019-06-26