Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02451:Tmem101'

293657

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem101

Ensembl Gene

ENSMUSG00000020921

Gene Name

transmembrane protein 101

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

102152546-102156404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102153293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 256 (D256V)

Ref Sequence

ENSEMBL: ENSMUSP00000021296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021296] [ENSMUST00000055409]

AlphaFold

Q91VP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021296
AA Change: D256V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: D256V

Domain	Start	End	E-Value	Type
Pfam:TMEM101	8	256	9.9e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055409

SMART Domains

Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217

Domain	Start	End	E-Value	Type
low complexity region	9	48	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
Pfam:NAT	349	514	3.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Tmem101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Tmem101	APN	11	102154660	missense	probably damaging	0.99
IGL01096:Tmem101	APN	11	102154552	splice site	probably null
IGL01593:Tmem101	APN	11	102155878	missense	probably damaging	1.00
IGL01814:Tmem101	APN	11	102153458	missense	possibly damaging	0.58
IGL03238:Tmem101	APN	11	102155785	missense	probably damaging	1.00
R0462:Tmem101	UTSW	11	102155867	missense	probably benign	0.08
R0848:Tmem101	UTSW	11	102155866	missense	possibly damaging	0.65
R1465:Tmem101	UTSW	11	102153329	missense	probably damaging	0.97
R1465:Tmem101	UTSW	11	102153329	missense	probably damaging	0.97
R1722:Tmem101	UTSW	11	102154693	missense	probably damaging	1.00
R1928:Tmem101	UTSW	11	102153396	missense	probably benign
R2082:Tmem101	UTSW	11	102153377	missense	probably benign	0.17
R4577:Tmem101	UTSW	11	102155837	missense	possibly damaging	0.48
R4724:Tmem101	UTSW	11	102153443	missense	probably benign	0.32
R4729:Tmem101	UTSW	11	102156329	missense	probably benign	0.25
R5146:Tmem101	UTSW	11	102154624	missense	probably benign
R5184:Tmem101	UTSW	11	102156233	missense	possibly damaging	0.78
R7381:Tmem101	UTSW	11	102153350	missense	possibly damaging	0.91
R8799:Tmem101	UTSW	11	102153510	missense	probably benign	0.08
R9612:Tmem101	UTSW	11	102153368	missense	probably damaging	1.00

Posted On

2015-04-16