Mutagenetix > Incidental Mutation

Incidental Mutation 'R4949:Tmbim1'

383646

Institutional Source

Beutler Lab

Gene Symbol

Tmbim1

Ensembl Gene

ENSMUSG00000006301

Gene Name

transmembrane BAX inhibitor motif containing 1

Synonyms

2310061B02Rik

MMRRC Submission

042546-MU

Accession Numbers

Essential gene?

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

Stock #

R4949 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74327406-74343495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74334524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 12 (D12A)

Ref Sequence

ENSEMBL: ENSMUSP00000115444 (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: D12A

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

SMART Domains

Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: D12A

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: D12A

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

SMART Domains

Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: D12A

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

probably damaging
Transcript: ENSMUST00000130763
AA Change: D12A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
AA Change: D12A

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: D12A

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

SMART Domains

Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301
AA Change: D12A

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: ENSMUST00000154859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186510

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.3%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,769,450 (GRCm39)	V692A	probably benign	Het
Bcl2l13	G	T	6: 120,864,191 (GRCm39)	G382W	probably damaging	Het
Cdhr5	T	A	7: 140,852,557 (GRCm39)	N353I	probably damaging	Het
Chil4	A	G	3: 106,113,408 (GRCm39)	S170P	possibly damaging	Het
Clp1	A	C	2: 84,554,086 (GRCm39)	M361R	possibly damaging	Het
Cylc2	A	G	4: 51,229,804 (GRCm39)	K382R	unknown	Het
Dsg2	T	A	18: 20,723,241 (GRCm39)	D422E	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Gm14295	A	C	2: 176,501,469 (GRCm39)	T320P	probably damaging	Het
Ido2	T	G	8: 25,023,970 (GRCm39)		probably null	Het
Ift140	T	A	17: 25,313,639 (GRCm39)	S1357T	probably benign	Het
Insr	T	G	8: 3,235,059 (GRCm39)	E145A	probably benign	Het
Itpripl1	A	G	2: 126,983,327 (GRCm39)	M265T	probably benign	Het
Kcnb1	G	T	2: 166,947,521 (GRCm39)	N442K	probably damaging	Het
Kifc5b	C	A	17: 27,144,488 (GRCm39)	R536S	probably damaging	Het
Klf6	A	T	13: 5,914,947 (GRCm39)	S129C	probably benign	Het
Lpin2	C	G	17: 71,538,334 (GRCm39)	P327A	probably damaging	Het
Lsm1	T	C	8: 26,292,065 (GRCm39)	V114A	probably benign	Het
Map7d1	C	T	4: 126,128,846 (GRCm39)	W218*	probably null	Het
N4bp2	T	A	5: 65,979,142 (GRCm39)		probably null	Het
Nt5el	T	A	13: 105,246,214 (GRCm39)	S258R	probably damaging	Het
Rheb	A	T	5: 25,008,729 (GRCm39)	I163K	possibly damaging	Het
Rph3a	T	C	5: 121,101,897 (GRCm39)	D113G	probably damaging	Het
Scn8a	A	G	15: 100,927,663 (GRCm39)	N1381D	probably damaging	Het
Sdsl	T	A	5: 120,597,870 (GRCm39)	N208Y	possibly damaging	Het
Serpinb9e	A	G	13: 33,435,591 (GRCm39)	N8S	possibly damaging	Het
Sox18	G	A	2: 181,313,017 (GRCm39)	Q100*	probably null	Het
Taar8b	C	T	10: 23,967,825 (GRCm39)	C123Y	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tes	C	A	6: 17,100,359 (GRCm39)	H331N	probably benign	Het
Tmprss4	T	C	9: 45,086,841 (GRCm39)	I307V	possibly damaging	Het
Ttll1	A	T	15: 83,386,374 (GRCm39)	M77K	probably null	Het
Ttpal	G	A	2: 163,455,671 (GRCm39)	R220Q	probably damaging	Het
Vmn1r230	T	A	17: 21,067,625 (GRCm39)	H271Q	probably benign	Het
Vmn2r32	A	G	7: 7,467,083 (GRCm39)	I815T	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
R4254:Tmbim1	UTSW	1	74,333,090 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGGTTCCTCAGTGCCAAG -3'
(R):5'- AATGGCATGTGTAAGCTACAGAC -3'

Sequencing Primer
(F):5'- AGTGCCAAGCTCTACCTTG -3'
(R):5'- CATGTGTAAGCTACAGACATAGC -3'

Posted On

2016-04-27