Mutagenetix > Incidental Mutation

Incidental Mutation 'R4254:Tmbim1'

321723

Institutional Source

Beutler Lab

Gene Symbol

Tmbim1

Ensembl Gene

ENSMUSG00000006301

Gene Name

transmembrane BAX inhibitor motif containing 1

Synonyms

2310061B02Rik

MMRRC Submission

041067-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R4254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74327406-74343495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74333090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 92 (V92F)

Ref Sequence

ENSEMBL: ENSMUSP00000109427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000130763] [ENSMUST00000141560]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000016309
AA Change: V92F

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

SMART Domains

Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: V92F

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
Pfam:Bax1-I	94	305	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000027370

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	1e-24	BLAST
Lactamase_B	129	291	1.05e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087226

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
low complexity region	43	61	N/A	INTRINSIC
Pfam:DUF4748	71	121	2.9e-23	PFAM
Lactamase_B	168	330	1.05e-31	SMART
Pfam:HAGH_C	331	421	6.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113796
AA Change: V92F

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

SMART Domains

Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: V92F

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
Pfam:Bax1-I	94	305	4.6e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128505

SMART Domains

Protein: ENSMUSP00000122874
Gene: ENSMUSG00000006301

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	1	152	3.3e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130763
AA Change: V92F

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
AA Change: V92F

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135384

Predicted Effect

probably damaging
Transcript: ENSMUST00000141560
AA Change: V92F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301
AA Change: V92F

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187941

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit susceptibility to cystic medial degeneration without inflammation or change in blood pressure and are prone to aortic dilation with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Adgrg2	T	G	X: 159,265,404 (GRCm39)	S551R	possibly damaging	Het
Anapc2	T	C	2: 25,163,357 (GRCm39)	V198A	probably benign	Het
Asxl3	T	C	18: 22,657,423 (GRCm39)	I1811T	possibly damaging	Het
Atp5mc3	A	C	2: 73,740,319 (GRCm39)		probably benign	Het
Ccdc27	A	C	4: 154,123,976 (GRCm39)	S186A	unknown	Het
Ccdc28a	A	G	10: 18,100,683 (GRCm39)	L48P	probably damaging	Het
Cdh19	C	T	1: 110,852,760 (GRCm39)	A392T	probably damaging	Het
Cfap65	T	C	1: 74,942,517 (GRCm39)	D1679G	probably benign	Het
Copa	C	T	1: 171,929,811 (GRCm39)	R293C	probably damaging	Het
Depdc1a	A	G	3: 159,204,124 (GRCm39)	R58G	probably damaging	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dsg4	A	T	18: 20,604,595 (GRCm39)	T1021S	probably benign	Het
Hrh1	T	A	6: 114,456,962 (GRCm39)	M81K	probably damaging	Het
Ipo11	G	A	13: 107,029,017 (GRCm39)	T312I	probably benign	Het
Itgb2l	T	C	16: 96,231,777 (GRCm39)	N330D	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kcnb1	A	G	2: 166,947,651 (GRCm39)	I399T	probably damaging	Het
Muc13	G	A	16: 33,636,221 (GRCm39)	M568I	probably benign	Het
Nlrp1a	A	C	11: 71,013,854 (GRCm39)	Y465*	probably null	Het
Nwd2	G	A	5: 63,963,889 (GRCm39)	V1158I	possibly damaging	Het
Or2h1b	A	G	17: 37,462,530 (GRCm39)	I111T	possibly damaging	Het
Or5d14	C	T	2: 87,880,123 (GRCm39)	V282I	possibly damaging	Het
Or8b101	T	A	9: 38,020,546 (GRCm39)	L183H	probably damaging	Het
Ptprr	T	A	10: 115,998,348 (GRCm39)		probably null	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serinc3	T	A	2: 163,478,888 (GRCm39)	M80L	probably benign	Het
Sf1	T	C	19: 6,421,677 (GRCm39)	V140A	probably damaging	Het
Slc15a2	A	T	16: 36,574,852 (GRCm39)	V519E	probably benign	Het
Slc16a10	A	G	10: 39,952,997 (GRCm39)	Y166H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Smim29	A	T	17: 27,784,696 (GRCm39)		probably null	Het
Vsig4	C	A	X: 95,334,107 (GRCm39)	R134L	probably benign	Het

Other mutations in Tmbim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Tmbim1	APN	1	74,334,422 (GRCm39)	missense	probably damaging	1.00
IGL03062:Tmbim1	APN	1	74,330,858 (GRCm39)	missense	possibly damaging	0.63
IGL03306:Tmbim1	APN	1	74,332,225 (GRCm39)	missense	probably damaging	1.00
R0987:Tmbim1	UTSW	1	74,333,083 (GRCm39)	splice site	probably null
R1067:Tmbim1	UTSW	1	74,329,905 (GRCm39)	unclassified	probably benign
R3821:Tmbim1	UTSW	1	74,333,089 (GRCm39)	missense	probably damaging	1.00
R3881:Tmbim1	UTSW	1	74,329,157 (GRCm39)	unclassified	probably benign
R4787:Tmbim1	UTSW	1	74,334,519 (GRCm39)	missense	possibly damaging	0.74
R4906:Tmbim1	UTSW	1	74,328,568 (GRCm39)	missense	probably damaging	1.00
R4949:Tmbim1	UTSW	1	74,334,524 (GRCm39)	missense	probably damaging	1.00
R5487:Tmbim1	UTSW	1	74,332,164 (GRCm39)	missense	probably benign	0.02
R6257:Tmbim1	UTSW	1	74,332,225 (GRCm39)	missense	probably damaging	1.00
R7347:Tmbim1	UTSW	1	74,330,438 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGAATCCAAGCCCAGAG -3'
(R):5'- AAGAGTCTGAGTTACAAGGGTGTC -3'

Sequencing Primer
(F):5'- GAGTGACTCTGTCATCCCAAAAC -3'
(R):5'- TCTTTTGGACAGAGGCACC -3'

Posted On

2015-06-20