Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03115:Tmbim7'

419367

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmbim7

Ensembl Gene

ENSMUSG00000014529

Gene Name

transmembrane BAX inhibitor motif containing 7

Synonyms

4930403J02Rik, 4930500J03Rik, Lfg5, Tmbim1b, 4930511M11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

3707004-3729865 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 3729158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 225 (*225Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000198739]

AlphaFold

Q9D592

Predicted Effect

probably null
Transcript: ENSMUST00000014673
AA Change: *303Q

SMART Domains

Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: *303Q

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	92	300	3.6e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156117

SMART Domains

Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	55	205	2e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000198739
AA Change: *225Q

SMART Domains

Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529
AA Change: *225Q

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	28	222	3.2e-33	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,808,802 (GRCm39)	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,422 (GRCm39)	C595S	probably damaging	Het
Arid2	G	A	15: 96,268,154 (GRCm39)	V756I	probably damaging	Het
Asah1	A	T	8: 41,813,336 (GRCm39)	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,822,973 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,228,663 (GRCm39)	D162G	probably damaging	Het
Clasp1	G	T	1: 118,429,053 (GRCm39)	E106*	probably null	Het
Col12a1	T	C	9: 79,588,719 (GRCm39)	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,710,182 (GRCm39)	H196N	probably benign	Het
Eps8	T	C	6: 137,504,379 (GRCm39)	D118G	probably damaging	Het
Fmo9	A	G	1: 166,505,220 (GRCm39)	S7P	probably damaging	Het
Gamt	A	G	10: 80,094,272 (GRCm39)	L197P	probably damaging	Het
Grb7	A	G	11: 98,341,945 (GRCm39)	I82V	probably damaging	Het
Hectd2	T	C	19: 36,577,121 (GRCm39)		probably null	Het
Ilk	T	C	7: 105,389,542 (GRCm39)	V83A	probably damaging	Het
Kif21a	T	A	15: 90,869,598 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	G	7: 139,501,425 (GRCm39)	I905V	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Morc3	T	C	16: 93,667,971 (GRCm39)	I710T	probably damaging	Het
Nefm	T	C	14: 68,357,728 (GRCm39)		probably benign	Het
Or10d5	T	C	9: 39,862,040 (GRCm39)	E9G	probably damaging	Het
Or2f2	A	G	6: 42,767,599 (GRCm39)	T209A	probably benign	Het
Or8g23	C	A	9: 38,971,259 (GRCm39)	R234S	probably damaging	Het
Pard6g	T	G	18: 80,123,068 (GRCm39)	L34W	probably damaging	Het
Patj	C	T	4: 98,332,040 (GRCm39)	S562L	probably damaging	Het
Pcsk4	A	G	10: 80,164,883 (GRCm39)	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,825,670 (GRCm39)	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,470,033 (GRCm39)	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,046,641 (GRCm39)		probably benign	Het
Poldip2	T	C	11: 78,411,970 (GRCm39)		probably benign	Het
Ralgapa2	T	C	2: 146,266,734 (GRCm39)	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,403,145 (GRCm39)		probably null	Het
Samd3	C	T	10: 26,147,606 (GRCm39)	T427M	probably damaging	Het
Skap1	A	G	11: 96,593,446 (GRCm39)	I98V	probably benign	Het
Skint11	T	C	4: 114,101,820 (GRCm39)	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,126,670 (GRCm39)	E133A	probably damaging	Het
Slc23a2	T	C	2: 131,933,185 (GRCm39)	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,426,403 (GRCm39)	E494V	possibly damaging	Het
Slco1a4	A	T	6: 141,765,329 (GRCm39)	D304E	probably benign	Het
Slco1a4	A	C	6: 141,763,585 (GRCm39)	M377R	probably damaging	Het
Srpk2	T	C	5: 23,729,616 (GRCm39)		probably null	Het
Supt3	T	G	17: 45,352,114 (GRCm39)	C271W	probably damaging	Het
Taar7d	C	A	10: 23,903,539 (GRCm39)	F140L	probably benign	Het
Tpst1	T	C	5: 130,130,752 (GRCm39)	I74T	probably damaging	Het
Utp3	T	C	5: 88,703,179 (GRCm39)	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,404,558 (GRCm39)	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,327,460 (GRCm39)	I372N	possibly damaging	Het
Wtip	C	T	7: 33,824,958 (GRCm39)	A209T	probably damaging	Het
Zbbx	T	C	3: 74,985,867 (GRCm39)	D395G	probably benign	Het
Zfp273	A	T	13: 67,973,769 (GRCm39)	H299L	probably damaging	Het
Zfp459	G	A	13: 67,556,796 (GRCm39)	R96*	probably null	Het

Other mutations in Tmbim7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Tmbim7	APN	5	3,729,087 (GRCm39)	missense	probably damaging	1.00
IGL01712:Tmbim7	APN	5	3,720,074 (GRCm39)	missense	probably damaging	1.00
IGL03003:Tmbim7	APN	5	3,711,887 (GRCm39)	missense	probably benign	0.39
FR4340:Tmbim7	UTSW	5	3,720,064 (GRCm39)	missense	possibly damaging	0.50
FR4342:Tmbim7	UTSW	5	3,720,064 (GRCm39)	missense	possibly damaging	0.50
FR4589:Tmbim7	UTSW	5	3,720,064 (GRCm39)	missense	possibly damaging	0.50
R0241:Tmbim7	UTSW	5	3,716,866 (GRCm39)	missense	probably benign	0.15
R0241:Tmbim7	UTSW	5	3,716,866 (GRCm39)	missense	probably benign	0.15
R1195:Tmbim7	UTSW	5	3,711,943 (GRCm39)	missense	probably benign	0.00
R1195:Tmbim7	UTSW	5	3,711,943 (GRCm39)	missense	probably benign	0.00
R1195:Tmbim7	UTSW	5	3,711,943 (GRCm39)	missense	probably benign	0.00
R1462:Tmbim7	UTSW	5	3,714,304 (GRCm39)	missense	probably damaging	1.00
R1462:Tmbim7	UTSW	5	3,714,304 (GRCm39)	missense	probably damaging	1.00
R1590:Tmbim7	UTSW	5	3,715,338 (GRCm39)	splice site	probably null
R1795:Tmbim7	UTSW	5	3,707,493 (GRCm39)	splice site	probably null
R2919:Tmbim7	UTSW	5	3,723,188 (GRCm39)	critical splice donor site	probably null
R3896:Tmbim7	UTSW	5	3,711,916 (GRCm39)	missense	probably benign	0.00
R4353:Tmbim7	UTSW	5	3,711,796 (GRCm39)	missense	probably benign	0.00
R4930:Tmbim7	UTSW	5	3,711,948 (GRCm39)	nonsense	probably null
R5277:Tmbim7	UTSW	5	3,723,192 (GRCm39)	splice site	probably null
R6475:Tmbim7	UTSW	5	3,714,319 (GRCm39)	missense	probably benign	0.04
R6633:Tmbim7	UTSW	5	3,707,659 (GRCm39)	splice site	probably null
R6835:Tmbim7	UTSW	5	3,711,943 (GRCm39)	missense	probably benign	0.11
R7047:Tmbim7	UTSW	5	3,720,112 (GRCm39)	missense	probably benign	0.07
R9709:Tmbim7	UTSW	5	3,711,809 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02