Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Tmem106a'

17915

Institutional Source

Beutler Lab

Gene Symbol

Tmem106a

Ensembl Gene

ENSMUSG00000034947

Gene Name

transmembrane protein 106A

Synonyms

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

101582242-101591788 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101586258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 98 (S98P)

Ref Sequence

ENSEMBL: ENSMUSP00000102812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039581] [ENSMUST00000100403] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107194] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000123558] [ENSMUST00000128614]

AlphaFold

Q8VC04

Predicted Effect

probably benign
Transcript: ENSMUST00000039581
AA Change: S98P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:DUF1356	11	251	2.2e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100403
AA Change: S98P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:DUF1356	24	251	1e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103098

SMART Domains

Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000103099

SMART Domains

Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	5e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC
PDB:2MJ5\|B	935	981	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000107194
AA Change: S98P

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:DUF1356	11	171	4.8e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107208

SMART Domains

Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	1e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107212

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	3e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	689	719	N/A	INTRINSIC
PDB:2MJ5\|B	910	956	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000107213

SMART Domains

Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	2e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	677	707	N/A	INTRINSIC
PDB:2MJ5\|B	898	944	2e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123558

SMART Domains

Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	7.02e-16	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
PDB:4OLE\|D	368	486	2e-77	PDB
low complexity region	507	518	N/A	INTRINSIC
coiled coil region	714	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128614
AA Change: S98P

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
AA Change: S98P

Domain	Start	End	E-Value	Type
Pfam:DUF1356	11	156	8.4e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143045

Predicted Effect

probably benign
Transcript: ENSMUST00000149019

SMART Domains

Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
coiled coil region	50	89	N/A	INTRINSIC
Pfam:N_BRCA1_IG	138	239	2.3e-34	PFAM
low complexity region	267	278	N/A	INTRINSIC
coiled coil region	473	500	N/A	INTRINSIC
PDB:2MJ5\|B	659	705	1e-24	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 82.7%
20x: 75.2%

Validation Efficiency

89% (68/76)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,254,011	I442T	possibly damaging	Het
Agrn	A	G	4: 156,174,958	C814R	probably damaging	Het
Aoc1	T	C	6: 48,908,604	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,421,724	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,076,815	I351V	probably benign	Het
Bbof1	T	A	12: 84,411,055	D31E	probably benign	Het
Cpxm2	T	A	7: 132,054,871	H554L	possibly damaging	Het
Ddx55	C	T	5: 124,556,782	T91I	probably damaging	Het
Dhx57	T	C	17: 80,275,156	D340G	possibly damaging	Het
Dnah1	C	T	14: 31,262,152		probably null	Het
Dpp9	C	T	17: 56,205,854	G118D	possibly damaging	Het
Etl4	T	C	2: 20,339,905	S4P	probably benign	Het
Fat4	A	C	3: 38,980,248	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,487,314	D119G	probably damaging	Het
Greb1	T	A	12: 16,680,224	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,217,015	L705P	probably damaging	Het
H13	T	A	2: 152,689,863		probably null	Het
Hgs	T	G	11: 120,482,852	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,436,453	D367G	probably benign	Het
Ift140	C	T	17: 25,090,954	Q1112*	probably null	Het
Il17b	A	G	18: 61,690,271	M59V	probably benign	Het
Lpin3	T	C	2: 160,905,340	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,745,796	N1230I	probably damaging	Het
Mindy2	C	A	9: 70,607,449		probably benign	Het
Nup210	T	G	6: 91,069,193	E586A	probably benign	Het
Olfr1105	T	C	2: 87,033,595	T209A	probably benign	Het
Olfr1344	C	T	7: 6,440,400	R167C	probably damaging	Het
Olfr346	A	T	2: 36,688,911	N303I	probably benign	Het
Osgepl1	A	G	1: 53,323,213	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,102,666	S360P	probably benign	Het
Plekha6	T	C	1: 133,270,177	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,478,502	E255G	probably damaging	Het
Pram1	T	A	17: 33,641,399	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,721,299	S261L	probably benign	Het
Spint5	T	A	2: 164,717,000	C49S	probably damaging	Het
Tex22	T	A	12: 113,088,772	I150N	probably benign	Het
Thoc6	A	T	17: 23,669,850	W195R	probably damaging	Het
Tnfrsf18	A	G	4: 156,028,366	T170A	probably benign	Het
Tor1aip1	A	T	1: 156,007,075	D342E	probably damaging	Het
Trav7-6	T	C	14: 53,717,072	S20P	probably damaging	Het
Trpc6	C	T	9: 8,653,034	P614S	probably damaging	Het
Washc5	A	G	15: 59,344,098	F811L	possibly damaging	Het

Other mutations in Tmem106a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Tmem106a	APN	11	101590414	missense	probably damaging	1.00
IGL02754:Tmem106a	APN	11	101590393	missense	probably benign	0.12
IGL02967:Tmem106a	APN	11	101586295	missense	possibly damaging	0.57
IGL03169:Tmem106a	APN	11	101590458	unclassified	probably benign
R0100:Tmem106a	UTSW	11	101586258	missense	probably benign	0.08
R1499:Tmem106a	UTSW	11	101590437	missense	possibly damaging	0.89
R1875:Tmem106a	UTSW	11	101586378	unclassified	probably benign
R4843:Tmem106a	UTSW	11	101586195	unclassified	probably benign
R6119:Tmem106a	UTSW	11	101583750	nonsense	probably null
R8675:Tmem106a	UTSW	11	101590396	nonsense	probably null
R8699:Tmem106a	UTSW	11	101582294	unclassified	probably benign

Posted On

2013-03-25