Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03062:Tmbim1'

409489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmbim1

Ensembl Gene

ENSMUSG00000006301

Gene Name

transmembrane BAX inhibitor motif containing 1

Synonyms

2310061B02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03062

Quality Score

Status

Chromosome

Chromosomal Location

74327406-74343495 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74330858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 168 (I168N)

Ref Sequence

ENSEMBL: ENSMUSP00000109427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000113805] [ENSMUST00000130763] [ENSMUST00000141560]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016309
AA Change: I168N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301
AA Change: I168N

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

possibly damaging
Transcript: ENSMUST00000113796
AA Change: I168N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301
AA Change: I168N

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: ENSMUST00000113805

SMART Domains

Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	4e-28	BLAST

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 benign
Transcript: ENSMUST00000130763

SMART Domains

Protein: ENSMUSP00000121814
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: ENSMUST00000186510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

probably benign
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

Coding Region Coverage

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,681,054 (GRCm39)	R714Q	possibly damaging	Het
Abcb5	T	A	12: 118,899,822 (GRCm39)	I282L	probably benign	Het
Aox1	A	T	1: 58,117,624 (GRCm39)	E835D	probably benign	Het
Arhgap17	C	T	7: 122,921,097 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,092,666 (GRCm39)		probably benign	Het
Calcr	C	T	6: 3,693,718 (GRCm39)	V359I	probably benign	Het
Chd9	T	A	8: 91,741,895 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,017,029 (GRCm39)		probably benign	Het
Dnajc11	A	G	4: 152,055,318 (GRCm39)	E171G	possibly damaging	Het
Efhd1	T	C	1: 87,192,406 (GRCm39)	F79L	possibly damaging	Het
Fam83a	A	T	15: 57,856,473 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,847,100 (GRCm39)		probably benign	Het
Ficd	A	G	5: 113,876,314 (GRCm39)	Y163C	probably damaging	Het
Filip1l	T	C	16: 57,327,167 (GRCm39)	S66P	probably damaging	Het
Fmo5	A	G	3: 97,542,909 (GRCm39)	Y73C	probably damaging	Het
Galnt12	C	A	4: 47,122,566 (GRCm39)	R574S	possibly damaging	Het
Klc3	C	A	7: 19,128,987 (GRCm39)	G461W	probably damaging	Het
Lmo7	A	T	14: 102,149,515 (GRCm39)	T973S	possibly damaging	Het
Loxl1	C	A	9: 58,219,193 (GRCm39)	G326V	possibly damaging	Het
Lrrc24	A	G	15: 76,602,504 (GRCm39)	V127A	probably benign	Het
Lyrm1	T	C	7: 119,515,354 (GRCm39)		probably benign	Het
Med28	G	A	5: 45,679,811 (GRCm39)	V65I	probably damaging	Het
Mgat4c	T	C	10: 102,224,322 (GRCm39)	Y179H	probably damaging	Het
Micall1	A	C	15: 78,998,881 (GRCm39)	N58T	probably damaging	Het
Mtcl3	T	A	10: 29,074,945 (GRCm39)	F911Y	probably damaging	Het
Ncoa4	T	A	14: 31,895,377 (GRCm39)	M72K	possibly damaging	Het
Nutm1	T	C	2: 112,079,278 (GRCm39)	Q879R	probably benign	Het
Or4d6	C	T	19: 12,086,512 (GRCm39)	V133I	probably benign	Het
Or8b12i	T	A	9: 20,082,463 (GRCm39)	I135F	probably damaging	Het
Or8g52	T	A	9: 39,631,331 (GRCm39)	D269E	probably benign	Het
Phf11b	T	C	14: 59,562,373 (GRCm39)	I177M	probably damaging	Het
Pin1rt1	T	G	2: 104,545,052 (GRCm39)	I27L	probably benign	Het
Plxna2	T	C	1: 194,444,858 (GRCm39)	V750A	possibly damaging	Het
Pou5f1	A	T	17: 35,820,936 (GRCm39)	N126I	possibly damaging	Het
Ptprn	A	T	1: 75,224,517 (GRCm39)	H946Q	possibly damaging	Het
Rnf43	G	T	11: 87,623,130 (GRCm39)	G744*	probably null	Het
Rsbn1	C	A	3: 103,860,945 (GRCm39)		probably benign	Het
Sars2	T	A	7: 28,446,206 (GRCm39)	I145N	possibly damaging	Het
Sh3tc2	A	T	18: 62,144,951 (GRCm39)	E1135V	probably damaging	Het
Shroom1	A	G	11: 53,354,206 (GRCm39)	D42G	probably benign	Het
Sidt2	A	G	9: 45,853,981 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,592,558 (GRCm39)		probably benign	Het
Slc9c1	T	C	16: 45,420,121 (GRCm39)	S1059P	probably benign	Het
Socs6	A	T	18: 88,887,970 (GRCm39)	M315K	probably benign	Het
Speer2	T	C	16: 69,654,865 (GRCm39)	E200G	probably damaging	Het
Sult2a5	T	A	7: 13,358,107 (GRCm39)		probably null	Het
Trim38	T	C	13: 23,966,946 (GRCm39)	V131A	probably damaging	Het
Ube2o	A	G	11: 116,432,468 (GRCm39)	S833P	probably damaging	Het
Uggt2	T	C	14: 119,312,758 (GRCm39)	I350M	probably damaging	Het
Unc80	A	G	1: 66,548,648 (GRCm39)	D640G	probably damaging	Het
Vmn2r13	A	G	5: 109,304,148 (GRCm39)	F761S	probably damaging	Het
Vmn2r54	C	T	7: 12,366,355 (GRCm39)	C193Y	probably damaging	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
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
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

Posted On

2016-08-02