Mutagenetix > Incidental Mutation

Incidental Mutation 'R9612:Tmem101'

724330

Institutional Source

Beutler Lab

Gene Symbol

Tmem101

Ensembl Gene

ENSMUSG00000020921

Gene Name

transmembrane protein 101

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9612 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102152546-102156404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102153368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 231 (V231A)

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: V231A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: V231A

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,927,387	M166K	probably benign	Het
2610021A01Rik	T	C	7: 41,626,903	S677P	possibly damaging	Het
4931406P16Rik	A	T	7: 34,248,231	C451S	probably damaging	Het
4932415D10Rik	T	A	10: 82,289,619	N2519I	possibly damaging	Het
5730480H06Rik	A	G	5: 48,374,530	I67V	probably benign	Het
Adam15	T	A	3: 89,341,940	Y736F	probably damaging	Het
Adam29	A	T	8: 55,872,083	F445L	possibly damaging	Het
Adgrv1	A	G	13: 81,492,963	Y3318H	probably damaging	Het
Akap6	A	G	12: 52,911,907	Y815C	probably damaging	Het
Ankar	T	A	1: 72,665,135	D876V	possibly damaging	Het
Atp6v1g2	G	A	17: 35,237,757	V106I	probably benign	Het
Bdp1	A	G	13: 100,077,862	S490P	probably benign	Het
Bet1	A	T	6: 4,077,918	V107D	probably damaging	Het
Bri3bp	T	C	5: 125,454,326	V112A	probably damaging	Het
Cage1	T	A	13: 38,032,375	D33V	probably damaging	Het
Ccdc146	G	T	5: 21,330,579	A159E	probably damaging	Het
Ccnl1	C	A	3: 65,957,983	G49V	probably damaging	Het
Cdk13	A	C	13: 17,751,855	F787V		Het
Cdk5r1	T	C	11: 80,477,654	V49A	probably benign	Het
Cdon	G	A	9: 35,486,905	V973I	probably damaging	Het
Chd1l	T	A	3: 97,581,147	K518*	probably null	Het
Col24a1	A	G	3: 145,545,205	D1653G	probably benign	Het
Cstf3	G	T	2: 104,653,025	V359F	possibly damaging	Het
Dchs2	T	C	3: 83,270,886	I1082T	probably damaging	Het
Dlec1	A	T	9: 119,127,465	I736F	probably damaging	Het
Dnah9	T	C	11: 65,927,649	N3288D	probably benign	Het
Ehbp1	T	C	11: 22,169,124	D182G	probably damaging	Het
Evc2	G	T	5: 37,386,786	E626D	probably benign	Het
Evi5	T	C	5: 107,795,712	E589G	probably benign	Het
Exoc4	T	C	6: 33,249,226	I25T	probably benign	Het
Extl2	T	A	3: 116,027,496	*331R	probably null	Het
Fkbp8	G	A	8: 70,531,674	R225H	probably damaging	Het
Foxred2	A	T	15: 77,952,006	S384T	probably damaging	Het
Glmn	T	C	5: 107,593,865	E18G	probably damaging	Het
Gm17018	G	T	19: 45,571,983	E82*	probably null	Het
Gm21936	A	G	12: 87,795,737	I76V	probably benign	Het
Gm7489	C	A	15: 53,885,972	Q147K	unknown	Het
Gm7489	A	C	15: 53,885,973	Q147P	unknown	Het
Gm8005	T	A	14: 42,438,398	I94F		Het
Golgb1	G	A	16: 36,919,605	V2810M	probably benign	Het
Gpr21	T	C	2: 37,518,387	L315P	probably damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
Herc6	T	G	6: 57,652,032	S643A	probably benign	Het
Igkv14-100	T	A	6: 68,519,333	I70N	probably damaging	Het
Kcnn3	A	G	3: 89,609,396	M371V	probably benign	Het
Kif1a	T	A	1: 93,025,694	H1256L	probably damaging	Het
Klhdc4	A	G	8: 121,801,178	S266P	possibly damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Lefty2	T	A	1: 180,894,721	L208Q	probably damaging	Het
Lingo2	T	C	4: 35,708,450	Y510C	probably damaging	Het
Lrif1	T	A	3: 106,731,884	V70D	probably damaging	Het
Lrrc74a	A	T	12: 86,758,571	K389I	possibly damaging	Het
Megf8	A	T	7: 25,355,063	E1868V	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mmp8	A	G	9: 7,560,607	D95G	probably damaging	Het
Mmrn1	T	A	6: 60,976,424	I563N	probably damaging	Het
Mroh3	T	C	1: 136,190,975	T535A	probably benign	Het
Mroh9	A	G	1: 163,038,929	L715P	probably damaging	Het
Myh6	G	T	14: 54,963,597	A136E	probably benign	Het
Myom1	G	T	17: 71,105,480	E1231*	probably null	Het
Nod2	G	T	8: 88,670,473	C837F	probably benign	Het
Nos2	T	A	11: 78,949,158	W698R	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Oas1a	A	T	5: 120,901,965	S188T	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1440	A	T	19: 12,394,619	M119L	probably damaging	Het
Olfr396-ps1	T	A	11: 73,928,549	D108E	possibly damaging	Het
Olfr490	A	G	7: 108,286,280	M282T	probably benign	Het
Olfr836	T	A	9: 19,121,464	S167T	probably benign	Het
Olfr847	A	G	9: 19,375,381	S167P	possibly damaging	Het
Opa1	T	C	16: 29,611,437	M394T		Het
Oxct2a	T	A	4: 123,323,336	D84V	probably damaging	Het
Oxct2b	A	C	4: 123,117,226	D313A	probably damaging	Het
Phldb3	G	A	7: 24,628,947	V639M	probably damaging	Het
Plppr4	T	A	3: 117,321,961	N749I	probably benign	Het
Pmp22	G	T	11: 63,133,239	V25F	probably benign	Het
Pofut2	A	T	10: 77,265,929	M267L	probably benign	Het
Ppp1r42	T	A	1: 9,968,842	N351I	possibly damaging	Het
Prl2b1	T	C	13: 27,388,496	E37G	probably benign	Het
Ptpro	G	T	6: 137,414,320	V813F	probably benign	Het
Rnaseh2c	T	C	19: 5,602,315	F99L	probably benign	Het
Scn9a	T	A	2: 66,533,364	I857F	probably damaging	Het
Slf1	A	G	13: 77,049,085		probably null	Het
Smyd2	T	C	1: 189,880,786	*434W	probably null	Het
Stk40	A	G	4: 126,136,857	D290G	probably damaging	Het
Tdo2	C	A	3: 81,971,694	W82C	probably damaging	Het
Tns2	G	A	15: 102,107,142	E160K	probably damaging	Het
Trim31	A	T	17: 36,901,659	D174V	probably benign	Het
Unc13d	A	T	11: 116,070,318	Y404*	probably null	Het
Ush2a	C	A	1: 188,359,866	Y531*	probably null	Het
Vapa	G	A	17: 65,582,741	P144S	probably benign	Het
Vmn1r212	C	T	13: 22,883,273	V297M	possibly damaging	Het
Vmn2r80	A	C	10: 79,194,878	N846T	probably damaging	Het
Zfp811	A	G	17: 32,798,766	V100A	probably benign	Het
Zfp958	T	A	8: 4,628,298	C108S	probably damaging	Het
Zic5	G	A	14: 122,459,688	T505I	unknown	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
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

Predicted Primers

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

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

Posted On

2022-09-12