Mutagenetix > Incidental Mutation

Incidental Mutation 'P0018:Tmub1'

7773

Institutional Source

Beutler Lab

Gene Symbol

Tmub1

Ensembl Gene

ENSMUSG00000028958

Gene Name

transmembrane and ubiquitin-like domain containing 1

Synonyms

2010004O20Rik, Hops

MMRRC Submission

038271-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

P0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24650456-24652852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24651755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 55 (A55S)

Ref Sequence

ENSEMBL: ENSMUSP00000122487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030799] [ENSMUST00000030800] [ENSMUST00000115033] [ENSMUST00000115036] [ENSMUST00000115041] [ENSMUST00000115043] [ENSMUST00000123167] [ENSMUST00000127194] [ENSMUST00000144389]

AlphaFold

Q9JMG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030799
AA Change: A55S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958
AA Change: A55S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	52	N/A	INTRINSIC
UBQ	102	171	4.58e-4	SMART
transmembrane domain	190	212	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000030800

SMART Domains

Protein: ENSMUSP00000030800
Gene: ENSMUSG00000028959

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
Pfam:FAST_1	274	340	7.4e-18	PFAM
Pfam:FAST_2	351	440	5e-20	PFAM
RAP	475	532	3.04e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115033
AA Change: A55S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958
AA Change: A55S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	52	N/A	INTRINSIC
UBQ	102	171	4.58e-4	SMART
transmembrane domain	190	212	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115036
AA Change: A70S

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110688
Gene: ENSMUSG00000028958
AA Change: A70S

Domain	Start	End	E-Value	Type
transmembrane domain	26	45	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
UBQ	117	186	4.58e-4	SMART
low complexity region	190	206	N/A	INTRINSIC
transmembrane domain	207	229	N/A	INTRINSIC
transmembrane domain	234	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115041

SMART Domains

Protein: ENSMUSP00000110693
Gene: ENSMUSG00000028959

Domain	Start	End	E-Value	Type
low complexity region	43	57	N/A	INTRINSIC
low complexity region	101	112	N/A	INTRINSIC
Pfam:FAST_1	136	204	5.4e-24	PFAM
Pfam:FAST_2	212	303	4.7e-26	PFAM
RAP	338	395	3.04e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115043

SMART Domains

Protein: ENSMUSP00000110695
Gene: ENSMUSG00000028959

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
Pfam:FAST_1	273	341	7.6e-24	PFAM
Pfam:FAST_2	349	440	6.9e-26	PFAM
Pfam:RAP	475	513	1.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123144

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123167
AA Change: A55S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958
AA Change: A55S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	52	N/A	INTRINSIC
Blast:UBQ	102	122	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000127194
AA Change: A55S

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958
AA Change: A55S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	39	52	N/A	INTRINSIC
UBQ	102	171	4.58e-4	SMART
low complexity region	175	204	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139307

Predicted Effect

probably benign
Transcript: ENSMUST00000144389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198276

Meta Mutation Damage Score

0.0745

Coding Region Coverage

1x: 83.8%
3x: 77.4%
10x: 57.9%
20x: 38.3%

Validation Efficiency

72% (76/106)

MGI Phenotype

PHENOTYPE: Knockout mice exhibit a strong increase in home cage locomotor activity during the dark phase (subjective day) of the light:dark (L:D) cycle, and increased waking and decreased NREM & REM times during the dark phase as determined by EEG analysis. Decreased abdominal fat and monocyte counts are seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	T	4: 144,429,767 (GRCm39)	D407E	probably benign	Het
Brip1	C	T	11: 85,999,694 (GRCm39)	V763I	possibly damaging	Het
Cspg4b	A	G	13: 113,504,040 (GRCm39)	D1723G	possibly damaging	Het
Cxxc1	C	T	18: 74,353,992 (GRCm39)	R593C	probably damaging	Het
Erbb4	T	A	1: 68,110,835 (GRCm39)	M993L	probably benign	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Het
Galnt2	T	A	8: 125,063,350 (GRCm39)	Y357N	probably damaging	Het
Hgsnat	C	T	8: 26,458,382 (GRCm39)		probably benign	Het
Katna1	A	T	10: 7,617,223 (GRCm39)	T72S	probably damaging	Het
Nell1	A	G	7: 49,770,439 (GRCm39)	D166G	probably damaging	Het
Nlgn1	G	T	3: 25,490,741 (GRCm39)	P329T	probably damaging	Het
Pclo	A	T	5: 14,727,735 (GRCm39)		probably benign	Het
Robo2	T	C	16: 73,843,694 (GRCm39)	I174V	possibly damaging	Het
Sufu	A	G	19: 46,463,933 (GRCm39)		probably benign	Het

Other mutations in Tmub1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:Tmub1	APN	5	24,651,096 (GRCm39)	missense	probably damaging	0.99
R2256:Tmub1	UTSW	5	24,652,175 (GRCm39)	unclassified	probably benign
R2256:Tmub1	UTSW	5	24,651,922 (GRCm39)	missense	possibly damaging	0.92
R2257:Tmub1	UTSW	5	24,651,922 (GRCm39)	missense	possibly damaging	0.92
R2937:Tmub1	UTSW	5	24,650,922 (GRCm39)	makesense	probably null
R2938:Tmub1	UTSW	5	24,650,922 (GRCm39)	makesense	probably null
R4438:Tmub1	UTSW	5	24,651,068 (GRCm39)	missense	probably damaging	1.00
R5897:Tmub1	UTSW	5	24,651,925 (GRCm39)	missense	probably benign	0.03
R6703:Tmub1	UTSW	5	24,651,944 (GRCm39)	missense	probably benign	0.18
R7500:Tmub1	UTSW	5	24,652,507 (GRCm39)	unclassified	probably benign
R7525:Tmub1	UTSW	5	24,651,011 (GRCm39)	missense	probably damaging	1.00
R7867:Tmub1	UTSW	5	24,651,664 (GRCm39)	missense	possibly damaging	0.91
R8896:Tmub1	UTSW	5	24,651,680 (GRCm39)	missense	probably benign	0.01
R8957:Tmub1	UTSW	5	24,651,775 (GRCm39)	missense	probably benign	0.06
R9331:Tmub1	UTSW	5	24,650,985 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmub1	UTSW	5	24,651,095 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-10-29