Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01022:Tmbim6'

54009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmbim6

Ensembl Gene

ENSMUSG00000023010

Gene Name

transmembrane BAX inhibitor motif containing 6

Synonyms

Tegt, Bax inhibitor 1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

99290828-99307930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99300003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 40 (V40M)

Ref Sequence

ENSEMBL: ENSMUSP00000125091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023749] [ENSMUST00000159209] [ENSMUST00000159531] [ENSMUST00000160635] [ENSMUST00000161250] [ENSMUST00000161778] [ENSMUST00000162624] [ENSMUST00000162274]

AlphaFold

Q9D2C7

Predicted Effect

probably benign
Transcript: ENSMUST00000023749
AA Change: V40M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000023749
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	5.6e-45	PFAM
low complexity region	229	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159209
AA Change: V40M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125117
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	3.6e-42	PFAM
low complexity region	229	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159531
AA Change: V40M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125318
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	3.6e-42	PFAM
low complexity region	229	237	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160454

Predicted Effect

probably benign
Transcript: ENSMUST00000160635
AA Change: V40M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124651
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	3.6e-42	PFAM
low complexity region	229	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161250
AA Change: V40M

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125563
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	3.6e-42	PFAM
low complexity region	229	237	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161778
AA Change: V40M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124805
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	225	1.1e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162624
AA Change: V40M

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125091
Gene: ENSMUSG00000023010
AA Change: V40M

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	24	204	4.8e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231147

Predicted Effect

probably benign
Transcript: ENSMUST00000229392

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants display increased sensitivity to ischemic brain injury and ER stress-inducing xenobiotics. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,038,721 (GRCm39)	S927P	probably benign	Het
Arfgef1	G	T	1: 10,244,301 (GRCm39)	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344 (GRCm39)	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,577,099 (GRCm39)	C71S	probably damaging	Het
Bod1l	A	T	5: 41,951,652 (GRCm39)	S2920T	probably damaging	Het
Camta2	G	A	11: 70,562,308 (GRCm39)	R1030*	probably null	Het
Chd8	T	C	14: 52,474,450 (GRCm39)	T194A	probably benign	Het
Col9a3	A	T	2: 180,258,227 (GRCm39)	I549F	probably damaging	Het
Fstl4	A	G	11: 53,077,568 (GRCm39)	N775S	probably benign	Het
Gm10800	T	A	2: 98,497,576 (GRCm39)		probably benign	Het
Gm5117	T	A	8: 32,228,515 (GRCm39)		noncoding transcript	Het
Hap1	A	G	11: 100,240,374 (GRCm39)	L112P	probably benign	Het
Hcls1	C	A	16: 36,771,488 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,507,699 (GRCm39)		probably benign	Het
Lct	T	A	1: 128,228,596 (GRCm39)	I966L	probably benign	Het
Myo1h	A	T	5: 114,474,361 (GRCm39)	I451F	possibly damaging	Het
Notch4	G	A	17: 34,784,671 (GRCm39)	C128Y	probably damaging	Het
Oca2	T	A	7: 55,974,504 (GRCm39)	N484K	probably damaging	Het
Or51f1e	T	G	7: 102,747,077 (GRCm39)	L43R	probably damaging	Het
Or7a42	A	T	10: 78,791,188 (GRCm39)	I50F	possibly damaging	Het
Rprd2	T	A	3: 95,671,066 (GRCm39)	R1362*	probably null	Het
Sema3a	C	T	5: 13,523,433 (GRCm39)	T134I	probably damaging	Het
Sfta2	C	T	17: 35,961,336 (GRCm39)	T74I	possibly damaging	Het
Slfn10-ps	C	T	11: 82,926,353 (GRCm39)		noncoding transcript	Het
Spag11a	A	T	8: 19,208,005 (GRCm39)	Q15H	probably damaging	Het
Tbc1d22a	G	A	15: 86,185,756 (GRCm39)	D282N	probably damaging	Het
Tmem259	A	G	10: 79,819,808 (GRCm39)	V22A	probably damaging	Het
Tnik	T	C	3: 28,679,377 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,424,610 (GRCm39)	D2002G	probably benign	Het

Other mutations in Tmbim6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0333:Tmbim6	UTSW	15	99,304,555 (GRCm39)	missense	probably damaging	1.00
R1440:Tmbim6	UTSW	15	99,300,004 (GRCm39)	missense	probably damaging	0.98
R1457:Tmbim6	UTSW	15	99,299,496 (GRCm39)	missense	probably benign	0.27
R2092:Tmbim6	UTSW	15	99,299,949 (GRCm39)	missense	probably damaging	1.00
R2282:Tmbim6	UTSW	15	99,302,407 (GRCm39)	missense	probably damaging	1.00
R4989:Tmbim6	UTSW	15	99,299,950 (GRCm39)	nonsense	probably null
R5361:Tmbim6	UTSW	15	99,303,633 (GRCm39)	missense	probably benign	0.01
R6364:Tmbim6	UTSW	15	99,304,066 (GRCm39)	missense	probably damaging	0.99
R6755:Tmbim6	UTSW	15	99,300,034 (GRCm39)	missense	probably benign	0.03
R7471:Tmbim6	UTSW	15	99,299,324 (GRCm39)	intron	probably benign
R9411:Tmbim6	UTSW	15	99,304,501 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28