Mutagenetix > Incidental Mutation

Incidental Mutation 'R0987:Tmbim1'

97236

Institutional Source

Beutler Lab

Gene Symbol

Tmbim1

Ensembl Gene

ENSMUSG00000006301

Gene Name

transmembrane BAX inhibitor motif containing 1

Synonyms

2310061B02Rik

MMRRC Submission

039107-MU

Accession Numbers

Essential gene?

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

Stock #

R0987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74327406-74343495 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 74333083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115444 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000016309
AA Change: H94R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: H94R

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 benign
Transcript: ENSMUST00000113796
AA Change: H94R

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: H94R

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: H94R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121814
Gene: ENSMUSG00000006301
AA Change: H94R

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 null
Transcript: ENSMUST00000141560

SMART Domains

Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301

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

Predicted Effect

probably null
Transcript: ENSMUST00000141560

SMART Domains

Protein: ENSMUSP00000115444
Gene: ENSMUSG00000006301

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: ENSMUST00000186510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 87.4%

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,246,502 (GRCm39)	V16D	possibly damaging	Het
Cacng6	C	T	7: 3,479,020 (GRCm39)	T133I	probably damaging	Het
Car6	A	G	4: 150,281,800 (GRCm39)	I71T	probably damaging	Het
Crem	A	T	18: 3,288,060 (GRCm39)	S178T	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fcgbp	G	T	7: 27,793,599 (GRCm39)	C1167F	probably damaging	Het
Glipr1l1	A	G	10: 111,914,340 (GRCm39)	S234G	probably benign	Het
Igsf9b	T	C	9: 27,243,849 (GRCm39)		probably null	Het
Kif26b	T	C	1: 178,649,185 (GRCm39)	L435P	probably damaging	Het
Kirrel2	T	C	7: 30,147,555 (GRCm39)	T698A	probably damaging	Het
Lrrc9	T	C	12: 72,557,156 (GRCm39)	V1407A	probably benign	Het
Mau2	T	C	8: 70,480,348 (GRCm39)	D275G	probably damaging	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Notch2	T	C	3: 98,041,993 (GRCm39)		probably null	Het
Nr0b2	G	A	4: 133,283,503 (GRCm39)	V247I	probably benign	Het
Or4c11	A	T	2: 88,695,527 (GRCm39)	I193L	probably benign	Het
Or5l13	G	A	2: 87,779,891 (GRCm39)	R229C	probably benign	Het
Or8k28	A	T	2: 86,285,891 (GRCm39)	C241*	probably null	Het
Pigf	A	G	17: 87,304,973 (GRCm39)	L190P	probably damaging	Het
Rasef	A	T	4: 73,652,721 (GRCm39)	C593*	probably null	Het
Tex15	T	G	8: 34,066,875 (GRCm39)	W2102G	probably damaging	Het
Tmem183a	A	T	1: 134,280,109 (GRCm39)	F257Y	probably damaging	Het
Zbtb11	A	G	16: 55,811,071 (GRCm39)	T410A	probably benign	Het
Zzef1	TGCGTGGGAACCCGC	TGC	11: 72,792,159 (GRCm39)		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
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
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'- TGCAGAATCCAAGCCCAGAGTGAC -3'
(R):5'- CAGCTCTTTCTCACCTGAGCCAAG -3'

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

Posted On

2014-01-05