Mutagenetix > Incidental Mutation

Incidental Mutation 'R6119:Tmem106a'

485674

Institutional Source

Beutler Lab

Gene Symbol

Tmem106a

Ensembl Gene

ENSMUSG00000034947

Gene Name

transmembrane protein 106A

Synonyms

0610008L10Rik

MMRRC Submission

044429-MU

Accession Numbers

Essential gene?

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

Stock #

R6119 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101473068-101482612 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 101474576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 58 (C58*)

Ref Sequence

ENSEMBL: ENSMUSP00000122218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039581] [ENSMUST00000071537] [ENSMUST00000100403] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107194] [ENSMUST00000107208] [ENSMUST00000128614] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000107218] [ENSMUST00000123558]

AlphaFold

Q8VC04

Predicted Effect

probably null
Transcript: ENSMUST00000039581
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: C58*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071537

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119

Domain	Start	End	E-Value	Type
PB1	4	86	2.05e-8	SMART
ZnF_ZZ	212	257	1.21e-13	SMART
coiled coil region	291	330	N/A	INTRINSIC
Pfam:N_BRCA1_IG	378	479	7.1e-34	PFAM
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 null
Transcript: ENSMUST00000100403
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: C58*

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 null
Transcript: ENSMUST00000107194
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
AA Change: C58*

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 null
Transcript: ENSMUST00000128614
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
AA Change: C58*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141170

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

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: ENSMUST00000107218

SMART Domains

Protein: ENSMUSP00000102836
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: 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

Meta Mutation Damage Score

0.9702

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,265,138 (GRCm39)	R97*	probably null	Het
4930544D05Rik	G	A	11: 70,507,317 (GRCm39)	A121T	probably damaging	Het
Abtb2	A	T	2: 103,532,655 (GRCm39)	E484D	probably benign	Het
Ankk1	A	T	9: 49,338,183 (GRCm39)	W37R	possibly damaging	Het
Arhgap11a	C	A	2: 113,664,695 (GRCm39)	M529I	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
Ddx47	T	C	6: 135,000,318 (GRCm39)	I438T	probably benign	Het
Dnhd1	A	G	7: 105,358,647 (GRCm39)	T3379A	probably benign	Het
Dusp3	A	G	11: 101,871,495 (GRCm39)		probably benign	Het
Dync1h1	A	G	12: 110,594,440 (GRCm39)	K1289E	possibly damaging	Het
Egf	A	T	3: 129,530,421 (GRCm39)	I247N	probably benign	Het
Erich1	A	G	8: 14,083,692 (GRCm39)	L126P	probably benign	Het
Fat3	T	A	9: 16,287,864 (GRCm39)	H553L	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,740 (GRCm39)	L257P	probably damaging	Het
Gimap8	T	C	6: 48,635,888 (GRCm39)	I551T	possibly damaging	Het
Gnptab	C	A	10: 88,267,257 (GRCm39)	D449E	probably damaging	Het
Grb10	T	C	11: 11,883,551 (GRCm39)	D513G	probably damaging	Het
Grin1	T	G	2: 25,195,170 (GRCm39)	D283A	probably damaging	Het
Gtf2i	A	T	5: 134,315,911 (GRCm39)		probably null	Het
Ip6k3	A	G	17: 27,367,599 (GRCm39)	V199A	possibly damaging	Het
Kif17	T	A	4: 138,015,643 (GRCm39)	Y405*	probably null	Het
Lair1	T	C	7: 4,031,895 (GRCm39)	M71V	probably benign	Het
Mamdc2	G	A	19: 23,330,679 (GRCm39)	T376M	probably damaging	Het
Msra	G	A	14: 64,678,183 (GRCm39)	R38C	probably damaging	Het
Mthfd1	A	T	12: 76,350,447 (GRCm39)	I462F	probably damaging	Het
Nbr1	A	G	11: 101,457,938 (GRCm39)		probably null	Het
Neb	A	G	2: 52,110,943 (GRCm39)	M181T	probably benign	Het
Noxo1	A	G	17: 24,915,545 (GRCm39)		probably benign	Het
Optn	C	A	2: 5,026,134 (GRCm39)		probably null	Het
Or10ag58	A	T	2: 87,265,733 (GRCm39)	K301*	probably null	Het
Or4c103	A	G	2: 88,513,935 (GRCm39)	I47T	probably damaging	Het
Or5k17	A	T	16: 58,746,895 (GRCm39)	I13N	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Pclo	A	G	5: 14,727,033 (GRCm39)		probably benign	Het
Ppp1r16b	A	G	2: 158,593,047 (GRCm39)	I209V	probably benign	Het
Prss12	A	G	3: 123,283,258 (GRCm39)	I517V	possibly damaging	Het
Pwwp3a	A	G	10: 80,064,865 (GRCm39)	K32E	probably benign	Het
Ripor2	C	T	13: 24,798,627 (GRCm39)		probably benign	Het
Rmnd5b	A	G	11: 51,516,536 (GRCm39)	S274P	probably benign	Het
Sftpa1	T	A	14: 40,854,509 (GRCm39)	I32N	probably damaging	Het
Slc2a12	T	A	10: 22,541,246 (GRCm39)	I367N	probably damaging	Het
Sorcs1	T	C	19: 50,276,532 (GRCm39)	D340G	probably damaging	Het
Synj1	T	C	16: 90,735,877 (GRCm39)	K1359E	probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcf12	T	A	9: 71,775,547 (GRCm39)	E421V	probably damaging	Het
Tecta	A	T	9: 42,284,371 (GRCm39)	F905I	probably benign	Het
Tmem131l	A	T	3: 83,805,689 (GRCm39)	F1585I	probably damaging	Het
Tnks2	T	C	19: 36,856,752 (GRCm39)	S208P	possibly damaging	Het
Trim50	A	G	5: 135,382,274 (GRCm39)	N42S	probably benign	Het
Tsc22d2	T	A	3: 58,367,674 (GRCm39)		probably benign	Het
Ttll3	T	A	6: 113,371,702 (GRCm39)	L23H	probably damaging	Het
Vmn1r10	A	G	6: 57,091,218 (GRCm39)	Y270C	probably benign	Het
Ypel3	T	C	7: 126,377,537 (GRCm39)	V74A	possibly damaging	Het
Zfp677	A	G	17: 21,618,070 (GRCm39)	T376A	possibly damaging	Het

Other mutations in Tmem106a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02122:Tmem106a	APN	11	101,481,240 (GRCm39)	missense	probably damaging	1.00
IGL02754:Tmem106a	APN	11	101,481,219 (GRCm39)	missense	probably benign	0.12
IGL02967:Tmem106a	APN	11	101,477,121 (GRCm39)	missense	possibly damaging	0.57
IGL03169:Tmem106a	APN	11	101,481,284 (GRCm39)	unclassified	probably benign
R0100:Tmem106a	UTSW	11	101,477,084 (GRCm39)	missense	probably benign	0.08
R0100:Tmem106a	UTSW	11	101,477,084 (GRCm39)	missense	probably benign	0.08
R1499:Tmem106a	UTSW	11	101,481,263 (GRCm39)	missense	possibly damaging	0.89
R1875:Tmem106a	UTSW	11	101,477,204 (GRCm39)	unclassified	probably benign
R4843:Tmem106a	UTSW	11	101,477,021 (GRCm39)	unclassified	probably benign
R8675:Tmem106a	UTSW	11	101,481,222 (GRCm39)	nonsense	probably null
R8699:Tmem106a	UTSW	11	101,473,120 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGGGTAAGGCAGTCTCCC -3'
(R):5'- CTGGCTTGAGGAACAGACAG -3'

Sequencing Primer
(F):5'- TAAGGCAGTCTCCCAGCTC -3'
(R):5'- ACGAAACTTTCCTCTAGGAGCTGG -3'

Posted On

2017-08-16