Mutagenetix > Incidental Mutation

Incidental Mutation 'R2082:Tmem101'

230098

Institutional Source

Beutler Lab

Gene Symbol

Tmem101

Ensembl Gene

ENSMUSG00000020921

Gene Name

transmembrane protein 101

Synonyms

MMRRC Submission

040087-MU

Accession Numbers

Essential gene?

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

Stock #

R2082 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102152546-102156404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102153377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 228 (T228K)

Ref Sequence

ENSEMBL: ENSMUSP00000021296 (fasta)

Gene Model

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

AlphaFold

Q91VP7

Predicted Effect

probably benign
Transcript: ENSMUST00000021296
AA Change: T228K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: T228K

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,796,379		probably null	Het
4933427I04Rik	A	G	4: 123,860,976	I228V	probably benign	Het
Aco2	T	C	15: 81,913,695	W657R	possibly damaging	Het
Acsm2	T	A	7: 119,580,634	H333Q	probably benign	Het
Adamts18	C	T	8: 113,775,333	V299I	probably damaging	Het
Adat2	G	A	10: 13,560,163	C84Y	probably damaging	Het
Arhgef11	C	T	3: 87,725,996	T690I	possibly damaging	Het
Cachd1	A	G	4: 101,002,958	D1242G	probably damaging	Het
Casp14	A	G	10: 78,715,033	M106T	probably benign	Het
Ccdc69	T	A	11: 55,052,389	I130F	probably damaging	Het
Cdk9	A	G	2: 32,709,501	L189P	probably damaging	Het
Cfhr1	C	T	1: 139,550,886	V249I	possibly damaging	Het
Chst1	T	C	2: 92,613,990	V269A	possibly damaging	Het
Col18a1	G	T	10: 77,059,293	P1178Q	probably damaging	Het
Col6a1	A	G	10: 76,709,596	L1014P	probably damaging	Het
Crisp3	T	C	17: 40,225,860	Y188C	probably damaging	Het
Dse	G	A	10: 34,155,940	R363C	probably damaging	Het
Exoc5	T	C	14: 49,015,587	I525V	probably benign	Het
Fech	A	T	18: 64,458,189	I388N	probably damaging	Het
Fmnl1	T	C	11: 103,192,025	L363P	probably damaging	Het
Gm10842	T	A	11: 105,147,083	L64Q	unknown	Het
Gm8225	C	A	17: 26,543,696	P287Q	possibly damaging	Het
Hsp90aa1	A	T	12: 110,692,827	L512H	probably damaging	Het
Ifi30	T	C	8: 70,763,728		probably benign	Het
Iqsec1	A	T	6: 90,694,574	D115E	probably damaging	Het
Kcnu1	T	A	8: 25,921,549	L174H	probably damaging	Het
Krt10	A	G	11: 99,388,875	V153A	probably damaging	Het
Krt18	G	A	15: 102,031,020		probably null	Het
Micu1	A	G	10: 59,863,307	T469A	probably benign	Het
Mtss1l	T	C	8: 110,726,257		probably null	Het
Myo10	T	A	15: 25,785,993	F1253L	probably damaging	Het
N4bp2	A	T	5: 65,807,565	T986S	probably damaging	Het
Naip6	C	A	13: 100,304,344		probably null	Het
Nphp4	G	A	4: 152,559,364	V1117M	probably benign	Het
Oca2	C	A	7: 56,297,137	Q305K	probably benign	Het
Olfr195	T	A	16: 59,148,885	F12I	probably damaging	Het
Olfr688	C	T	7: 105,288,503	Q137*	probably null	Het
Olfr845	G	A	9: 19,339,278	V273I	probably benign	Het
P2rx7	A	T	5: 122,644,095	N8Y	possibly damaging	Het
Pag1	A	T	3: 9,699,485	S203T	probably damaging	Het
Pfn4	T	A	12: 4,775,439		probably null	Het
Pip4k2c	T	C	10: 127,199,089	D414G	probably damaging	Het
Pkp1	T	G	1: 135,884,976	Q329P	possibly damaging	Het
Polrmt	A	T	10: 79,743,512	I135N	probably benign	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Ppp3cb	T	C	14: 20,508,678	T439A	possibly damaging	Het
Prkdc	A	G	16: 15,715,963	Y1555C	probably damaging	Het
Ptprh	T	C	7: 4,550,775	D859G	probably damaging	Het
Sema5a	T	A	15: 32,618,856	M510K	probably benign	Het
Slc22a16	A	G	10: 40,585,339	E379G	probably benign	Het
Slc30a5	C	A	13: 100,806,533		probably null	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Tbc1d9	A	T	8: 83,270,987	S1058C	probably damaging	Het
Tet2	A	G	3: 133,485,727	L982P	possibly damaging	Het
Tshz2	G	T	2: 169,886,215	K441N	probably damaging	Het
Upf1	A	T	8: 70,341,572	I228N	probably damaging	Het
Usp32	A	T	11: 85,030,512	I692N	probably damaging	Het
Vmn2r117	A	G	17: 23,460,256	S665P	possibly damaging	Het
Vps13b	T	C	15: 35,910,746	V3552A	possibly damaging	Het
Vps35	A	T	8: 85,263,465	M638K	possibly damaging	Het
Vps41	T	G	13: 18,852,351	I645S	probably benign	Het
Zfp703	T	C	8: 26,978,988	S227P	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCATCTGTCAGGTTCC -3'
(R):5'- TGGCGTACCTGAACCATCTTC -3'

Sequencing Primer
(F):5'- CTGCATCTGTCAGGTTCCAAAAGG -3'
(R):5'- GTACCTGAACCATCTTCCAGGAGG -3'

Posted On

2014-09-18