Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Tmem101'

52252

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 #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

102152546-102156404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102154660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 121 (L121Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021296 (fasta)

Gene Model

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

AlphaFold

Q91VP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021296
AA Change: L121Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: L121Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143986

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,037,342		probably benign	Het
Acp7	T	C	7: 28,611,053	Y453C	probably damaging	Het
Bop1	T	C	15: 76,453,376	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,678,994	R974S	probably damaging	Het
Cenpt	T	C	8: 105,846,665	E350G	possibly damaging	Het
Cep112	G	T	11: 108,486,606	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236	T26A	probably damaging	Het
Crot	T	C	5: 8,973,955	H387R	probably damaging	Het
Fdxr	A	T	11: 115,269,576	V351E	probably benign	Het
Fkbpl	T	C	17: 34,645,744	L162P	probably damaging	Het
Fmn2	T	A	1: 174,695,654	N1358K	probably damaging	Het
Gm5155	A	T	7: 17,915,691	H729L	possibly damaging	Het
Hectd4	G	T	5: 121,331,701	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,676,732	I42K	probably benign	Het
Igfals	C	T	17: 24,881,660	T575I	probably benign	Het
Il6	G	T	5: 30,013,489	V28F	probably damaging	Het
Irx1	A	G	13: 71,959,697	S289P	probably benign	Het
Ncoa2	T	C	1: 13,149,079	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 76,908,354	R28L	probably benign	Het
Nudt5	G	A	2: 5,864,427	V155I	probably benign	Het
Olfr12	G	T	1: 92,620,199	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,309,603	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,562,752		probably null	Het
Prodh	A	T	16: 18,076,344	V339E	probably damaging	Het
Rbm48	C	T	5: 3,584,762	V401M	probably benign	Het
Retreg3	G	A	11: 101,100,925	Q61*	probably null	Het
Rif1	A	G	2: 52,085,140	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,809,062	V507M	probably damaging	Het
Safb2	T	A	17: 56,565,242	R197*	probably null	Het
Slc22a26	A	G	19: 7,790,099	V314A	probably benign	Het
Slfnl1	G	T	4: 120,533,356	R68L	probably damaging	Het
Spata1	G	T	3: 146,476,242	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,280,727	M95V	possibly damaging	Het
Thpo	T	C	16: 20,728,455	D52G	probably damaging	Het
Trim40	T	C	17: 36,883,241	I187V	probably benign	Het
Usp33	A	G	3: 152,368,569	K351E	possibly damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vcan	T	C	13: 89,679,958	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,408,789	V61I	probably benign	Het
Zfp804b	A	G	5: 6,770,931	S675P	probably damaging	Het

Other mutations in Tmem101

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02451:Tmem101	APN	11	102153293	missense	probably damaging	1.00
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

2013-06-21