Mutagenetix > Incidental Mutation

Incidental Mutation 'R0711:Tmco3'

62741

Institutional Source

Beutler Lab

Gene Symbol

Tmco3

Ensembl Gene

ENSMUSG00000038497

Gene Name

transmembrane and coiled-coil domains 3

Synonyms

B230339H12Rik

MMRRC Submission

038894-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0711 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

13338190-13372924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13342039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 104 (N104K)

Ref Sequence

ENSEMBL: ENSMUSP00000040347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045229] [ENSMUST00000045366] [ENSMUST00000110838] [ENSMUST00000110839] [ENSMUST00000110840] [ENSMUST00000203467] [ENSMUST00000203604]

AlphaFold

Q8BH01

Predicted Effect

probably damaging
Transcript: ENSMUST00000045229
AA Change: N104K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040347
Gene: ENSMUSG00000038497
AA Change: N104K

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
coiled coil region	124	204	N/A	INTRINSIC
Pfam:Na_H_Exchanger	274	662	9.2e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045366

SMART Domains

Protein: ENSMUSP00000047208
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	1.5e-13	PFAM
Pfam:Cullin_binding	136	247	2.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110838

SMART Domains

Protein: ENSMUSP00000106462
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	9.9e-14	PFAM
PDB:4GAO\|G	62	173	3e-71	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110839

SMART Domains

Protein: ENSMUSP00000106463
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	1.1e-13	PFAM
Pfam:Cullin_binding	134	206	2.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110840

SMART Domains

Protein: ENSMUSP00000106464
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	50	7.6e-14	PFAM
PDB:4GAO\|G	62	199	6e-75	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000203467

SMART Domains

Protein: ENSMUSP00000145399
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	7.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203604

SMART Domains

Protein: ENSMUSP00000145430
Gene: ENSMUSG00000038506

Domain	Start	End	E-Value	Type
Pfam:UBA_4	9	51	4.7e-11	PFAM
Pfam:Cullin_binding	136	213	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204673

Meta Mutation Damage Score

0.5405

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,773,986 (GRCm39)	D1058E	probably damaging	Het
4933405L10Rik	A	T	8: 106,435,563 (GRCm39)		probably null	Het
Adamtsl3	T	A	7: 82,114,907 (GRCm39)		probably benign	Het
Afdn	C	T	17: 14,072,698 (GRCm39)	P874S	probably damaging	Het
Ankrd6	G	A	4: 32,815,326 (GRCm39)	A391V	probably damaging	Het
Arhgef28	T	G	13: 98,067,762 (GRCm39)	T1388P	probably damaging	Het
Asxl3	G	T	18: 22,657,508 (GRCm39)	M1839I	probably benign	Het
BC005537	T	C	13: 24,989,923 (GRCm39)	F129L	probably damaging	Het
Celf2	A	G	2: 6,726,226 (GRCm39)		probably null	Het
Chid1	C	T	7: 141,076,590 (GRCm39)	V325I	probably benign	Het
Cnn3	T	A	3: 121,243,633 (GRCm39)	D31E	probably benign	Het
Col12a1	G	A	9: 79,559,317 (GRCm39)	P1857L	probably damaging	Het
Cpeb1	T	A	7: 81,001,618 (GRCm39)	R430W	probably benign	Het
Daw1	T	C	1: 83,169,059 (GRCm39)		probably benign	Het
Dcaf13	A	G	15: 39,001,484 (GRCm39)	Y264C	probably damaging	Het
Dnah6	T	C	6: 73,064,585 (GRCm39)	I2666V	probably damaging	Het
Dnai2	A	C	11: 114,645,158 (GRCm39)	D531A	probably benign	Het
Dock10	A	T	1: 80,501,692 (GRCm39)	F1833I	probably damaging	Het
Efhd2	C	T	4: 141,587,183 (GRCm39)	A200T	probably damaging	Het
Epb41l5	T	A	1: 119,551,641 (GRCm39)		probably benign	Het
Ermp1	A	G	19: 29,608,788 (GRCm39)	Y164H	possibly damaging	Het
Gkn2	T	C	6: 87,350,401 (GRCm39)		probably benign	Het
Golgb1	A	T	16: 36,739,152 (GRCm39)	Q2497L	probably damaging	Het
Gzme	A	T	14: 56,355,196 (GRCm39)	M245K	probably damaging	Het
Iars2	A	T	1: 185,054,585 (GRCm39)		probably benign	Het
Icosl	T	A	10: 77,909,775 (GRCm39)	V240D	probably damaging	Het
Igsf3	T	C	3: 101,334,709 (GRCm39)	M262T	probably benign	Het
Ing3	G	T	6: 21,971,236 (GRCm39)	E336*	probably null	Het
Kat2a	A	T	11: 100,597,297 (GRCm39)	V625E	probably damaging	Het
Ksr1	A	G	11: 78,929,073 (GRCm39)		probably benign	Het
Lypd8	A	T	11: 58,277,583 (GRCm39)	M122L	probably benign	Het
Mdfi	A	T	17: 48,143,855 (GRCm39)		probably benign	Het
Med13	A	G	11: 86,192,179 (GRCm39)		probably benign	Het
Msh6	C	T	17: 88,294,112 (GRCm39)	R956C	probably damaging	Het
Myo15b	A	G	11: 115,774,664 (GRCm39)	E670G	probably damaging	Het
Myo1d	A	G	11: 80,375,158 (GRCm39)	L972P	probably damaging	Het
Or4s2b	A	G	2: 88,509,018 (GRCm39)	D266G	probably damaging	Het
Or51ai2	G	A	7: 103,587,024 (GRCm39)	A146T	probably benign	Het
Or7g12	T	A	9: 18,899,447 (GRCm39)	N54K	probably benign	Het
Pde8b	C	G	13: 95,244,325 (GRCm39)	S143T	possibly damaging	Het
Pias4	G	T	10: 80,993,364 (GRCm39)		probably benign	Het
Prkca	A	G	11: 107,872,480 (GRCm39)	Y427H	probably benign	Het
Psg25	G	A	7: 18,263,485 (GRCm39)	Q113*	probably null	Het
Rab3gap2	T	A	1: 184,982,123 (GRCm39)	S392T	probably damaging	Het
Scrib	A	G	15: 75,938,756 (GRCm39)		probably benign	Het
Sdk2	A	G	11: 113,793,970 (GRCm39)		probably benign	Het
Serpinb1c	T	A	13: 33,070,266 (GRCm39)		probably benign	Het
Serpinb9f	T	A	13: 33,511,904 (GRCm39)	W136R	probably damaging	Het
Skic3	C	T	13: 76,331,010 (GRCm39)	P1480L	probably damaging	Het
Skint10	C	A	4: 112,573,102 (GRCm39)		probably benign	Het
Slc25a13	T	C	6: 6,117,128 (GRCm39)	T196A	probably damaging	Het
Slc26a5	T	C	5: 22,052,230 (GRCm39)	H33R	probably damaging	Het
Slc27a6	T	C	18: 58,731,829 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,251 (GRCm39)	Y819N	probably damaging	Het
Spata46	C	T	1: 170,139,603 (GRCm39)	Q201*	probably null	Het
Sptbn1	A	T	11: 30,064,739 (GRCm39)	V1920E	probably damaging	Het
Taf6l	A	G	19: 8,755,881 (GRCm39)	F256L	probably benign	Het
Tmem200c	A	G	17: 69,149,249 (GRCm39)	T611A	probably damaging	Het
Tmem202	T	G	9: 59,432,655 (GRCm39)	Y24S	probably damaging	Het
Tpp1	A	G	7: 105,398,626 (GRCm39)	L230P	probably damaging	Het
Trim56	C	T	5: 137,141,846 (GRCm39)	E557K	probably benign	Het
Trrap	C	T	5: 144,790,309 (GRCm39)	L3590F	probably damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Vcp	G	C	4: 42,986,201 (GRCm39)	A297G	probably benign	Het
Vwf	T	A	6: 125,603,234 (GRCm39)	H861Q	probably benign	Het
Wdr64	T	C	1: 175,599,751 (GRCm39)	I536T	probably benign	Het
Zfp850	T	C	7: 27,689,698 (GRCm39)	N170S	probably benign	Het
Zfp87	G	A	13: 74,524,544 (GRCm39)		probably benign	Het

Other mutations in Tmco3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00824:Tmco3	APN	8	13,342,825 (GRCm39)	missense	probably damaging	1.00
IGL01139:Tmco3	APN	8	13,369,887 (GRCm39)	missense	possibly damaging	0.92
IGL02116:Tmco3	APN	8	13,342,706 (GRCm39)	unclassified	probably benign
IGL03114:Tmco3	APN	8	13,348,205 (GRCm39)	splice site	probably benign
Ganado	UTSW	8	13,342,077 (GRCm39)	splice site	probably null
R0244:Tmco3	UTSW	8	13,342,037 (GRCm39)	missense	probably damaging	1.00
R0385:Tmco3	UTSW	8	13,346,027 (GRCm39)	missense	probably damaging	1.00
R1594:Tmco3	UTSW	8	13,342,052 (GRCm39)	missense	probably damaging	0.98
R1727:Tmco3	UTSW	8	13,368,866 (GRCm39)	missense	possibly damaging	0.52
R1752:Tmco3	UTSW	8	13,341,741 (GRCm39)	missense	probably benign
R2375:Tmco3	UTSW	8	13,342,059 (GRCm39)	missense	possibly damaging	0.72
R2850:Tmco3	UTSW	8	13,345,024 (GRCm39)	missense	probably benign	0.00
R3843:Tmco3	UTSW	8	13,346,114 (GRCm39)	splice site	probably benign
R4003:Tmco3	UTSW	8	13,341,959 (GRCm39)	missense	probably damaging	0.96
R4059:Tmco3	UTSW	8	13,370,848 (GRCm39)	missense	probably benign	0.27
R5071:Tmco3	UTSW	8	13,342,860 (GRCm39)	nonsense	probably null
R5072:Tmco3	UTSW	8	13,342,860 (GRCm39)	nonsense	probably null
R5456:Tmco3	UTSW	8	13,369,815 (GRCm39)	missense	probably damaging	0.96
R5556:Tmco3	UTSW	8	13,344,870 (GRCm39)	missense	probably damaging	0.99
R5826:Tmco3	UTSW	8	13,360,314 (GRCm39)	missense	probably damaging	0.99
R6200:Tmco3	UTSW	8	13,342,077 (GRCm39)	splice site	probably null
R6586:Tmco3	UTSW	8	13,370,894 (GRCm39)	utr 3 prime	probably benign
R6858:Tmco3	UTSW	8	13,363,924 (GRCm39)	missense	probably damaging	1.00
R6867:Tmco3	UTSW	8	13,363,927 (GRCm39)	missense	probably damaging	1.00
R6944:Tmco3	UTSW	8	13,353,729 (GRCm39)	missense	probably damaging	1.00
R7082:Tmco3	UTSW	8	13,370,847 (GRCm39)	nonsense	probably null
R7192:Tmco3	UTSW	8	13,369,605 (GRCm39)	splice site	probably null
R7283:Tmco3	UTSW	8	13,369,605 (GRCm39)	splice site	probably null
R7285:Tmco3	UTSW	8	13,369,605 (GRCm39)	splice site	probably null
R7287:Tmco3	UTSW	8	13,369,605 (GRCm39)	splice site	probably null
R7314:Tmco3	UTSW	8	13,369,605 (GRCm39)	splice site	probably null
R7442:Tmco3	UTSW	8	13,370,781 (GRCm39)	missense	probably damaging	1.00
R8084:Tmco3	UTSW	8	13,353,873 (GRCm39)	missense	probably damaging	0.96
R8708:Tmco3	UTSW	8	13,345,998 (GRCm39)	missense	probably benign
R8755:Tmco3	UTSW	8	13,341,782 (GRCm39)	missense	probably benign
R9156:Tmco3	UTSW	8	13,360,228 (GRCm39)	missense	possibly damaging	0.79
R9226:Tmco3	UTSW	8	13,360,143 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTTGGACCATGAAGGTACTGGAC -3'
(R):5'- AGGCTTCGCAAAACGTAATCCCTC -3'

Sequencing Primer
(F):5'- AAGGTACTGGACCAGAGTCTCC -3'
(R):5'- AATTCTGTGTGTTGCTCCACC -3'

Posted On

2013-07-30