Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03003:Tmbim7'

407457

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: 0.088) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

3707004-3729865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3711887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 7 (D7G)

Ref Sequence

ENSEMBL: ENSMUSP00000117435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014673] [ENSMUST00000156117] [ENSMUST00000196304] [ENSMUST00000198739] [ENSMUST00000199959]

AlphaFold

Q9D592

Predicted Effect

probably benign
Transcript: ENSMUST00000014673
AA Change: D44G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000014673
Gene: ENSMUSG00000014529
AA Change: D44G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115515

SMART Domains

Protein: ENSMUSP00000111177
Gene: ENSMUSG00000014529

Domain	Start	End	E-Value	Type
transmembrane domain	100	122	N/A	INTRINSIC
transmembrane domain	143	162	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156117
AA Change: D7G

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117435
Gene: ENSMUSG00000014529
AA Change: D7G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196304

Predicted Effect

probably benign
Transcript: ENSMUST00000198739

SMART Domains

Protein: ENSMUSP00000143399
Gene: ENSMUSG00000014529

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199959

SMART Domains

Protein: ENSMUSP00000143241
Gene: ENSMUSG00000014529

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	1	96	2.6e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,671,509 (GRCm39)	P577L	probably damaging	Het
Aff3	A	T	1: 38,248,651 (GRCm39)	S819T	probably damaging	Het
Aftph	G	T	11: 20,676,982 (GRCm39)	S209*	probably null	Het
Astn1	T	A	1: 158,439,965 (GRCm39)	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,828,608 (GRCm39)	K29E	probably benign	Het
Ccdc93	T	C	1: 121,390,846 (GRCm39)	S273P	possibly damaging	Het
Cd200r3	C	A	16: 44,764,139 (GRCm39)	H2N	probably benign	Het
Cd200r3	G	T	16: 44,764,138 (GRCm39)	M1I	probably null	Het
Col7a1	G	A	9: 108,804,024 (GRCm39)		probably null	Het
Cyp3a41a	T	A	5: 145,642,640 (GRCm39)	M240L	probably benign	Het
Dcstamp	T	C	15: 39,617,906 (GRCm39)	V105A	possibly damaging	Het
Dmbt1	C	A	7: 130,684,409 (GRCm39)	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,469,876 (GRCm39)	M634K	probably benign	Het
Farp2	T	C	1: 93,495,140 (GRCm39)	Y138H	probably damaging	Het
Fga	T	C	3: 82,940,037 (GRCm39)	S564P	probably damaging	Het
Gbf1	T	C	19: 46,244,094 (GRCm39)	L142S	probably damaging	Het
Gm5422	T	C	10: 31,126,840 (GRCm39)		noncoding transcript	Het
Helz2	A	G	2: 180,882,046 (GRCm39)	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,323,498 (GRCm39)	T4204K	probably damaging	Het
Ift81	T	C	5: 122,732,725 (GRCm39)	I270V	probably benign	Het
Katnip	A	T	7: 125,451,132 (GRCm39)	I1088F	probably damaging	Het
Kif6	C	T	17: 50,060,899 (GRCm39)	R411*	probably null	Het
Klhl35	T	A	7: 99,119,550 (GRCm39)	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,340,531 (GRCm39)	D1531E	probably benign	Het
Muc5b	C	A	7: 141,417,351 (GRCm39)	D3432E	probably benign	Het
Nipbl	A	T	15: 8,379,798 (GRCm39)	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,782,726 (GRCm39)	V228L	probably benign	Het
Nrap	T	C	19: 56,310,384 (GRCm39)	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,424,910 (GRCm39)	A210V	possibly damaging	Het
Or13a18	A	G	7: 140,190,283 (GRCm39)	Y60C	probably damaging	Het
Or1l4b	T	C	2: 37,036,464 (GRCm39)	V80A	probably benign	Het
Osbpl7	T	C	11: 96,941,521 (GRCm39)	Y15H	probably benign	Het
Pde8b	T	A	13: 95,178,465 (GRCm39)	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,892,123 (GRCm39)	S280T	probably benign	Het
Pkd1	T	A	17: 24,812,577 (GRCm39)		probably null	Het
Polh	A	T	17: 46,505,292 (GRCm39)	V108E	possibly damaging	Het
Prob1	A	G	18: 35,786,428 (GRCm39)	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,582 (GRCm39)	N1557K	probably damaging	Het
Rev1	A	C	1: 38,127,154 (GRCm39)	F369V	possibly damaging	Het
Rgma	A	G	7: 73,067,188 (GRCm39)	N148D	probably damaging	Het
Robo3	A	G	9: 37,330,587 (GRCm39)	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,700,311 (GRCm39)	V137A	probably damaging	Het
Sema6c	T	C	3: 95,076,925 (GRCm39)	L337P	probably damaging	Het
Shc4	A	T	2: 125,565,253 (GRCm39)	Y15*	probably null	Het
Slc4a9	T	C	18: 36,669,946 (GRCm39)	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,035,168 (GRCm39)	N864D	probably damaging	Het
Sspo	T	C	6: 48,432,021 (GRCm39)	L745P	probably damaging	Het
Syce1l	A	G	8: 114,380,699 (GRCm39)	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,473,781 (GRCm39)	W768L	probably damaging	Het
Tmem109	A	C	19: 10,851,695 (GRCm39)	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,350,834 (GRCm39)	R333G	probably damaging	Het
Ttn	T	G	2: 76,611,955 (GRCm39)	S17316R	probably damaging	Het
Usp10	A	G	8: 120,681,549 (GRCm39)	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,345,906 (GRCm39)	F2716I	possibly damaging	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
IGL03115:Tmbim7	APN	5	3,729,158 (GRCm39)	makesense	probably null
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