Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Tmub1'

682086

Institutional Source

Beutler Lab

Gene Symbol

Tmub1

Ensembl Gene

ENSMUSG00000028958

Gene Name

transmembrane and ubiquitin-like domain containing 1

Synonyms

2010004O20Rik, Hops

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24650456-24652852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24651775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 63 (T63K)

Ref Sequence

ENSEMBL: ENSMUSP00000110688 (fasta)

Gene Model

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

AlphaFold

Q9JMG3

Predicted Effect

SMART Domains

Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958
AA Change: T48K

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

probably benign
Transcript: ENSMUST00000115033
AA Change: T48K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958
AA Change: T48K

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: ENSMUST00000115036
AA Change: T63K

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110688
Gene: ENSMUSG00000028958
AA Change: T63K

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

probably benign
Transcript: ENSMUST00000123167
AA Change: T48K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958
AA Change: T48K

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: T48K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958
AA Change: T48K

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

probably benign
Transcript: ENSMUST00000144389

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dis3	T	C	14: 99,337,027 (GRCm39)	D28G	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	probably damaging	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
P0018:Tmub1	UTSW	5	24,651,755 (GRCm39)	missense	possibly damaging	0.83
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
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

Predicted Primers

PCR Primer
(F):5'- AACCGTAGAAGTAGGGGTTCC -3'
(R):5'- TGACTTCTGACCAGGAAGTAGCC -3'

Sequencing Primer
(F):5'- TCCTGCGGAGAGTCTGGAG -3'
(R):5'- GGAAGTAGCCCCTCACCAGTTC -3'

Posted On

2021-08-31