Mutagenetix > Incidental Mutation

Incidental Mutation 'R5146:Tmem101'

395120

Institutional Source

Beutler Lab

Gene Symbol

Tmem101

Ensembl Gene

ENSMUSG00000020921

Gene Name

transmembrane protein 101

Synonyms

MMRRC Submission

042730-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102152546-102156404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102154624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 133 (R133Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021296 (fasta)

Gene Model

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

AlphaFold

Q91VP7

Predicted Effect

probably benign
Transcript: ENSMUST00000021296
AA Change: R133Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: R133Q

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

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,243,025	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,484,972	I329V	probably benign	Het
Ahnak2	A	C	12: 112,775,726	H637Q	probably benign	Het
Carmil3	A	G	14: 55,497,179	D455G	probably benign	Het
Cdh7	A	G	1: 109,994,312	T45A	probably damaging	Het
Chil4	T	A	3: 106,202,834	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,013,847	V138A	probably damaging	Het
Csmd1	T	C	8: 16,196,190	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,074,876	R296*	probably null	Het
Dnah17	A	G	11: 118,114,179	M793T	probably damaging	Het
Dock4	A	G	12: 40,649,492		probably null	Het
Fgfr4	G	T	13: 55,165,912	L511F	probably damaging	Het
Gm14415	T	C	2: 177,104,231		noncoding transcript	Het
Gm7030	A	G	17: 36,129,015	W76R	probably damaging	Het
Gpam	A	G	19: 55,093,946	V91A	probably damaging	Het
Grin2b	T	A	6: 135,779,342	I462F	probably damaging	Het
Grwd1	A	T	7: 45,827,834	F210I	probably damaging	Het
Itfg1	T	C	8: 85,718,868	*611W	probably null	Het
Kcna2	T	C	3: 107,105,498	V465A	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo15b	A	G	11: 115,891,198	T1444A	probably benign	Het
Nlgn3	G	A	X: 101,318,285	V287I	probably benign	Het
Oas1c	A	G	5: 120,802,094	S336P	probably benign	Het
Pirb	T	C	7: 3,712,621		probably benign	Het
Pot1b	A	T	17: 55,672,865	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456	M641L	probably benign	Het
Sppl2b	T	C	10: 80,867,640	*579Q	probably null	Het
Sumf1	G	A	6: 108,185,310	P83S	probably benign	Het
Ttn	G	A	2: 76,870,363		probably benign	Het
Vmn2r84	A	G	10: 130,386,102	Y750H	probably damaging	Het
Zfp873	A	G	10: 82,060,224	Y300C	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATCTCTTGGAGTCACCTTG -3'
(R):5'- CTTGGAATAGGCAAGAGGGTTC -3'

Sequencing Primer
(F):5'- GTGAAATTACTCACAAGGCCTTGCTC -3'
(R):5'- TTCATCAGATAGAACAGGACGTG -3'

Posted On

2016-06-21