Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Tmbim4'

526849

Institutional Source

Beutler Lab

Gene Symbol

Tmbim4

Ensembl Gene

ENSMUSG00000020225

Gene Name

transmembrane BAX inhibitor motif containing 4

Synonyms

0610007H07Rik

MMRRC Submission

044781-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120044731-120060802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120060556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000020446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020444] [ENSMUST00000020446] [ENSMUST00000130198] [ENSMUST00000141206] [ENSMUST00000220107]

AlphaFold

Q9DA39

Predicted Effect

probably benign
Transcript: ENSMUST00000020444

SMART Domains

Protein: ENSMUSP00000020444
Gene: ENSMUSG00000020224

Domain	Start	End	E-Value	Type
Pfam:Laps	3	125	8.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020446
AA Change: V181A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020446
Gene: ENSMUSG00000020225
AA Change: V181A

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	32	232	7.2e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123802

Predicted Effect

probably benign
Transcript: ENSMUST00000130198

SMART Domains

Protein: ENSMUSP00000118254
Gene: ENSMUSG00000020224

Domain	Start	End	E-Value	Type
Pfam:Laps	3	123	2.2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134203

Predicted Effect

probably benign
Transcript: ENSMUST00000141206

SMART Domains

Protein: ENSMUSP00000121824
Gene: ENSMUSG00000020225

Domain	Start	End	E-Value	Type
transmembrane domain	38	60	N/A	INTRINSIC
transmembrane domain	75	90	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148678

Predicted Effect

probably benign
Transcript: ENSMUST00000220107

Meta Mutation Damage Score

0.3030

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amy2a1	T	C	3: 113,325,363 (GRCm39)	Y77C	probably damaging	Het
Ankrd9	C	A	12: 110,944,202 (GRCm39)		probably benign	Het
Arhgap28	C	A	17: 68,152,746 (GRCm39)	W675L	probably damaging	Het
Arhgap44	A	G	11: 64,900,834 (GRCm39)	S595P	probably damaging	Het
Brd10	A	T	19: 29,700,864 (GRCm39)	H741Q	possibly damaging	Het
Cacna1d	C	A	14: 29,811,832 (GRCm39)	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,325,031 (GRCm39)		probably benign	Het
Celsr1	A	G	15: 85,803,135 (GRCm39)	V2468A	probably damaging	Het
Chd2	T	C	7: 73,140,230 (GRCm39)	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,439,986 (GRCm39)	V775L	probably damaging	Het
Cux2	C	A	5: 122,007,360 (GRCm39)	R767L	probably benign	Het
Decr2	A	G	17: 26,302,561 (GRCm39)	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,717,626 (GRCm39)	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,662,609 (GRCm39)	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,525,963 (GRCm39)	F80I	probably damaging	Het
Fmnl2	C	A	2: 52,998,297 (GRCm39)	P554Q	probably damaging	Het
Gapvd1	C	T	2: 34,618,450 (GRCm39)	D308N	probably damaging	Het
Gatb	A	G	3: 85,559,726 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,675,256 (GRCm39)	G1006D	probably damaging	Het
Krt1c	A	G	15: 101,724,398 (GRCm39)	Y289H	probably damaging	Het
Lrrc52	A	G	1: 167,293,922 (GRCm39)	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,362,633 (GRCm39)	T299I	unknown	Het
Magi1	T	C	6: 93,920,289 (GRCm39)	N109S	probably benign	Het
Mbd4	C	A	6: 115,826,116 (GRCm39)	E271*	probably null	Het
Meis2	T	A	2: 115,694,751 (GRCm39)	D457V	probably damaging	Het
Mroh8	A	G	2: 157,067,547 (GRCm39)	V604A	probably benign	Het
Nedd4	T	A	9: 72,593,377 (GRCm39)	V150E	probably damaging	Het
Nes	A	G	3: 87,884,243 (GRCm39)	E790G	probably damaging	Het
Or8h8	T	C	2: 86,753,492 (GRCm39)	N128S	probably benign	Het
Pik3c2a	T	C	7: 115,967,993 (GRCm39)	I834V	possibly damaging	Het
Plxnb1	T	C	9: 108,933,367 (GRCm39)	C666R	possibly damaging	Het
Prg2	T	C	2: 84,813,620 (GRCm39)		probably null	Het
Selenbp2	A	G	3: 94,609,821 (GRCm39)	D257G	probably damaging	Het
Slf1	T	C	13: 77,191,964 (GRCm39)	R957G	probably damaging	Het
Smim10l1	T	A	6: 133,082,513 (GRCm39)	M46K	possibly damaging	Het
Sptbn5	T	C	2: 119,902,856 (GRCm39)	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,928,652 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,385,842 (GRCm39)	E234G	probably damaging	Het
Trappc9	A	G	15: 72,461,993 (GRCm39)	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,631,134 (GRCm39)	C143*	probably null	Het
Ushbp1	C	T	8: 71,843,305 (GRCm39)	C314Y	unknown	Het

Other mutations in Tmbim4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4696001:Tmbim4	UTSW	10	120,053,529 (GRCm39)	missense	probably benign	0.35
R2127:Tmbim4	UTSW	10	120,060,658 (GRCm39)	missense	probably damaging	1.00
R5066:Tmbim4	UTSW	10	120,053,537 (GRCm39)	missense	probably benign	0.02
R6234:Tmbim4	UTSW	10	120,057,628 (GRCm39)	splice site	probably null
R7062:Tmbim4	UTSW	10	120,044,731 (GRCm39)	start gained	probably benign
R7069:Tmbim4	UTSW	10	120,056,664 (GRCm39)	missense	probably benign	0.00
R7121:Tmbim4	UTSW	10	120,051,514 (GRCm39)	missense	possibly damaging	0.92
R7582:Tmbim4	UTSW	10	120,053,471 (GRCm39)	missense	probably benign	0.12
R7730:Tmbim4	UTSW	10	120,059,767 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- TTCCATGAAACAAGTAAACGGG -3'
(R):5'- CTCTGAACACTGCTCGGTTAC -3'

Sequencing Primer
(F):5'- ACGGGAGTTTAGCTCTGCC -3'
(R):5'- ACACTGCTCGGTTACTTTTTATTAAC -3'

Posted On

2018-07-23