Mutagenetix > Incidental Mutation

Incidental Mutation 'R6703:Tmub1'

528271

Institutional Source

Beutler Lab

Gene Symbol

Tmub1

Ensembl Gene

ENSMUSG00000028958

Gene Name

transmembrane and ubiquitin-like domain containing 1

Synonyms

2010004O20Rik, Hops

MMRRC Submission

044821-MU

Accession Numbers

Essential gene?

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

Stock #

R6703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24650456-24652852 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24651944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 7 (S7G)

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

probably benign
Transcript: ENSMUST00000030799

SMART Domains

Protein: ENSMUSP00000030799
Gene: ENSMUSG00000028958

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

SMART Domains

Protein: ENSMUSP00000110685
Gene: ENSMUSG00000028958

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: S7G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110688
Gene: ENSMUSG00000028958
AA Change: S7G

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

probably benign
Transcript: ENSMUST00000123167

SMART Domains

Protein: ENSMUSP00000122487
Gene: ENSMUSG00000028958

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

SMART Domains

Protein: ENSMUSP00000123173
Gene: ENSMUSG00000028958

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: ENSMUST00000149085

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149537

Predicted Effect

probably benign
Transcript: ENSMUST00000144389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198276

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (73/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,497,558 (GRCm39)	Y66*	probably null	Het
Akap13	T	C	7: 75,252,646 (GRCm39)	S259P	probably damaging	Het
Aoc1	A	C	6: 48,882,648 (GRCm39)	T197P	probably damaging	Het
Blnk	A	T	19: 40,950,950 (GRCm39)		probably null	Het
Ccser1	A	T	6: 61,615,495 (GRCm39)	K94*	probably null	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Clec4n	A	G	6: 123,212,553 (GRCm39)	Q89R	probably null	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Dock7	T	C	4: 98,834,909 (GRCm39)	E1822G	probably damaging	Het
Dpyd	A	T	3: 118,690,849 (GRCm39)		probably null	Het
Dyrk4	A	T	6: 126,867,045 (GRCm39)	I329N	probably damaging	Het
E4f1	C	A	17: 24,666,105 (GRCm39)	R231L	probably damaging	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Fkbp7	A	T	2: 76,502,106 (GRCm39)	M99K	probably damaging	Het
Flad1	T	C	3: 89,315,897 (GRCm39)	S222G	probably benign	Het
H1f7	C	A	15: 98,155,153 (GRCm39)		probably benign	Het
Ighg2b	T	C	12: 113,268,653 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Itln1	C	T	1: 171,358,151 (GRCm39)	C199Y	probably damaging	Het
Kctd3	G	A	1: 188,728,726 (GRCm39)	R137C	probably damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp7	C	T	3: 127,337,873 (GRCm39)	M395I	probably damaging	Het
Lpcat3	C	T	6: 124,640,185 (GRCm39)	A5V	probably benign	Het
Lrrc43	C	T	5: 123,637,532 (GRCm39)	T233M	possibly damaging	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Mgst2	T	C	3: 51,572,033 (GRCm39)		probably null	Het
Mug2	T	G	6: 122,055,653 (GRCm39)	I1112R	probably benign	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nectin3	A	G	16: 46,284,205 (GRCm39)	S160P	probably damaging	Het
Nudt16l2	T	C	9: 105,021,758 (GRCm39)	Y96C	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or2m13	T	C	16: 19,226,122 (GRCm39)	I215V	probably benign	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdh10	G	A	3: 45,335,734 (GRCm39)	V683M	possibly damaging	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pif1	T	C	9: 65,500,545 (GRCm39)	V490A	probably damaging	Het
Plekhn1	A	T	4: 156,309,250 (GRCm39)	Y219N	probably benign	Het
Ppl	T	G	16: 4,907,328 (GRCm39)	E989A	probably damaging	Het
Prkdc	T	G	16: 15,488,392 (GRCm39)	S505A	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Ptges	A	G	2: 30,793,133 (GRCm39)	V33A	possibly damaging	Het
Qser1	G	A	2: 104,607,670 (GRCm39)	T1416I	possibly damaging	Het
Rab3a	A	G	8: 71,209,095 (GRCm39)	D77G	probably damaging	Het
Rtn3	A	T	19: 7,412,410 (GRCm39)	V788D	probably damaging	Het
Rtn4r	T	C	16: 17,969,055 (GRCm39)	L161P	probably damaging	Het
Rtn4rl1	G	A	11: 75,156,354 (GRCm39)	R262Q	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Senp6	A	G	9: 80,029,203 (GRCm39)	E522G	probably damaging	Het
Slc27a6	A	G	18: 58,742,911 (GRCm39)	N533S	probably benign	Het
Slc39a5	T	A	10: 128,233,651 (GRCm39)	D282V	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Snx14	A	G	9: 88,304,967 (GRCm39)	I109T	probably damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
Sox5	G	T	6: 143,779,191 (GRCm39)	S648R	probably damaging	Het
Sptbn2	G	A	19: 4,799,842 (GRCm39)	S2161N	probably benign	Het
Sptbn2	C	A	19: 4,799,843 (GRCm39)	S2161R	probably benign	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Trarg1	A	T	11: 76,584,988 (GRCm39)		probably null	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp438	A	G	18: 5,214,044 (GRCm39)	S305P	probably benign	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGCTGACATGGCTTCAC -3'
(R):5'- GGTGCTGAATGAAGATCTAGAACTC -3'

Sequencing Primer
(F):5'- TGACATGGCTTCACTGGGC -3'
(R):5'- TAGCAAAGCTAGCACTTGGAATCTG -3'

Posted On

2018-07-24