Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Mtf2'

433522

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

043086-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.856) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108065674-108109004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108094157 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 277 (L277Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108245 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000081567
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080278
Gene: ENSMUSG00000029267
AA Change: L277Q

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 damaging
Transcript: ENSMUST00000112626
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108245
Gene: ENSMUSG00000029267
AA Change: L277Q

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

unknown
Transcript: ENSMUST00000129921
AA Change: L51Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131291

Predicted Effect

probably benign
Transcript: ENSMUST00000134026

SMART Domains

Protein: ENSMUSP00000128797
Gene: ENSMUSG00000029267

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

unknown
Transcript: ENSMUST00000137996
AA Change: L182Q

SMART Domains

Protein: ENSMUSP00000121697
Gene: ENSMUSG00000029267
AA Change: L182Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141592

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

probably damaging
Transcript: ENSMUST00000170319
AA Change: L159Q

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130536
Gene: ENSMUSG00000029267
AA Change: L159Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198662

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ablim2	C	T	5: 35,856,166	Q148*	probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Cpne8	C	T	15: 90,619,690	V91I	possibly damaging	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Fam102a	G	A	2: 32,566,327	A334T	probably damaging	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,418,987	E352G	possibly damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,520,725	V276A	probably 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
R6021:Mtf2	UTSW	5	108081137	missense	possibly damaging	0.93
R7164:Mtf2	UTSW	5	108093369	missense	possibly damaging	0.53
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
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'- AAGCTAGTGGTTTCCAGTTTCTTC -3'
(R):5'- ACAGTAGCTCTGATATCCTTACCAAAG -3'

Sequencing Primer
(F):5'- CTAGTGGTTTCCAGTTTCTTCATATG -3'
(R):5'- CTCTGATATCCTTACCAAAGTGTTTC -3'

Posted On

2016-10-06