Mutagenetix > Incidental Mutation

Incidental Mutation 'R7375:Tmem81'

572310

Institutional Source

Beutler Lab

Gene Symbol

Tmem81

Ensembl Gene

ENSMUSG00000048174

Gene Name

transmembrane protein 81

Synonyms

4930429O20Rik

MMRRC Submission

045458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7375 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132433968-132436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132435301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 36 (V36L)

Ref Sequence

ENSEMBL: ENSMUSP00000062565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027700] [ENSMUST00000058167] [ENSMUST00000086521] [ENSMUST00000187505] [ENSMUST00000188789] [ENSMUST00000190825] [ENSMUST00000190997]

AlphaFold

Q9D5K1

Predicted Effect

probably benign
Transcript: ENSMUST00000027700

SMART Domains

Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058167
AA Change: V36L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: V36L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:IG	86	178	6e-54	BLAST
transmembrane domain	221	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086521

SMART Domains

Protein: ENSMUSP00000083707
Gene: ENSMUSG00000053024

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IGc2	54	120	8.78e-9	SMART
IG	142	232	3.89e-1	SMART
IGc2	254	315	2.14e-21	SMART
IGc2	341	404	4.59e-12	SMART
IGc2	433	497	7.52e-8	SMART
IGc2	523	596	2.72e-5	SMART
FN3	610	696	2.72e-12	SMART
FN3	713	799	1.02e-2	SMART
FN3	815	899	5.27e-10	SMART
FN3	915	995	8.91e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187505

SMART Domains

Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
Blast:WD40	1	52	9e-13	BLAST
WD40	55	99	5.1e-3	SMART
WD40	114	153	7.9e-2	SMART
WD40	156	195	1.9e-2	SMART
low complexity region	217	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188789
AA Change: V36L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: V36L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:IG	86	178	6e-54	BLAST
transmembrane domain	221	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189528

Predicted Effect

probably benign
Transcript: ENSMUST00000190825

SMART Domains

Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
WD40	14	52	1.4e-3	SMART
WD40	55	94	4.6e-9	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	5.1e-3	SMART
WD40	241	280	7.9e-2	SMART
WD40	283	322	1.9e-2	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190997

SMART Domains

Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,968,671 (GRCm39)	I337V	probably benign	Het
Abl2	A	G	1: 156,450,184 (GRCm39)	D117G	probably damaging	Het
Arhgap5	T	A	12: 52,563,365 (GRCm39)	L112*	probably null	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Ccdc168	A	T	1: 44,099,694 (GRCm39)	I468N	possibly damaging	Het
Cfap91	T	A	16: 38,155,980 (GRCm39)	H81L	probably damaging	Het
Cmya5	T	G	13: 93,228,169 (GRCm39)	K2306N	probably damaging	Het
Col16a1	A	C	4: 129,959,294 (GRCm39)	K680T	unknown	Het
Col28a1	T	A	6: 7,998,499 (GRCm39)	T1137S	possibly damaging	Het
Crnn	A	T	3: 93,056,452 (GRCm39)	T413S	possibly damaging	Het
Csf1	A	G	3: 107,655,495 (GRCm39)	L512P	possibly damaging	Het
Dlx3	C	A	11: 95,011,461 (GRCm39)	A105D	possibly damaging	Het
Dnah3	T	G	7: 119,550,900 (GRCm39)	T161P	probably damaging	Het
Dnah7b	A	G	1: 46,342,794 (GRCm39)	D3435G	probably damaging	Het
Dpp10	A	G	1: 123,295,524 (GRCm39)	I541T	probably benign	Het
Efcc1	T	C	6: 87,728,838 (GRCm39)	V431A	possibly damaging	Het
Enpp5	T	C	17: 44,391,868 (GRCm39)	I99T	probably benign	Het
Gm11232	C	T	4: 71,675,583 (GRCm39)	W59*	probably null	Het
Gxylt2	A	T	6: 100,727,383 (GRCm39)	T166S	probably benign	Het
Herc6	A	T	6: 57,628,791 (GRCm39)		probably null	Het
Itga2	T	C	13: 115,005,753 (GRCm39)	I476V	probably benign	Het
Kcnq5	T	C	1: 21,539,710 (GRCm39)	T403A	possibly damaging	Het
Klhl42	A	G	6: 146,993,538 (GRCm39)	K170R	probably benign	Het
Klk13	T	C	7: 43,370,582 (GRCm39)		probably null	Het
Krt32	G	T	11: 99,972,050 (GRCm39)	R433S	probably benign	Het
Lrp1	G	T	10: 127,375,217 (GRCm39)	T4461N	probably damaging	Het
Mapk10	A	T	5: 103,124,256 (GRCm39)	M256K	probably null	Het
Mogat2	T	C	7: 98,872,905 (GRCm39)	K93R	probably damaging	Het
Myh1	G	T	11: 67,101,254 (GRCm39)	V677L	probably damaging	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Oog4	G	A	4: 143,165,544 (GRCm39)	T201M	possibly damaging	Het
Or4a70	C	T	2: 89,324,036 (GRCm39)	G207R	possibly damaging	Het
Pik3c2a	T	C	7: 115,975,621 (GRCm39)	T649A	probably damaging	Het
Plec	T	A	15: 76,061,555 (GRCm39)	H2794L	possibly damaging	Het
Pros1	T	A	16: 62,744,913 (GRCm39)	N509K	probably damaging	Het
Psme3ip1	G	A	8: 95,309,636 (GRCm39)	L119F	probably benign	Het
Psme4	T	A	11: 30,722,700 (GRCm39)		probably null	Het
Ptprf	A	G	4: 118,070,011 (GRCm39)	V1457A	probably benign	Het
Rad50	A	G	11: 53,543,055 (GRCm39)		probably null	Het
Rfx5	C	T	3: 94,866,053 (GRCm39)	P451S	unknown	Het
Scpppq1	G	T	5: 104,219,123 (GRCm39)		probably null	Het
Sdk1	G	T	5: 141,984,598 (GRCm39)	V728L	probably benign	Het
Sfxn4	T	C	19: 60,847,112 (GRCm39)	D57G	probably benign	Het
Slc10a4	A	G	5: 73,169,650 (GRCm39)	D425G	probably benign	Het
Slc17a5	C	T	9: 78,495,174 (GRCm39)	A26T	probably benign	Het
Slc22a26	A	T	19: 7,760,509 (GRCm39)		probably null	Het
Slc22a30	A	G	19: 8,382,055 (GRCm39)	L72P	probably damaging	Het
Slco6c1	T	C	1: 97,009,146 (GRCm39)	T447A	possibly damaging	Het
Slco6d1	A	G	1: 98,349,172 (GRCm39)	N81S	probably damaging	Het
Stard9	T	C	2: 120,495,483 (GRCm39)		probably null	Het
Tecpr1	T	C	5: 144,145,417 (GRCm39)	E610G	possibly damaging	Het
Trabd2b	G	T	4: 114,467,194 (GRCm39)	K474N	probably benign	Het
Tspan33	T	C	6: 29,713,519 (GRCm39)	F149L	probably benign	Het
Ttn	A	G	2: 76,606,683 (GRCm39)	Y18076H	probably damaging	Het
Utrn	G	A	10: 12,516,764 (GRCm39)	R2277C	probably damaging	Het
Vmn2r101	T	A	17: 19,831,652 (GRCm39)	D549E	probably damaging	Het
Vmn2r107	T	A	17: 20,576,138 (GRCm39)	I156K	probably benign	Het
Wwc2	T	G	8: 48,316,955 (GRCm39)	S713R	unknown	Het
Xndc1	C	A	7: 101,730,687 (GRCm39)		probably null	Het
Zfp810	A	G	9: 22,201,833 (GRCm39)		probably null	Het

Other mutations in Tmem81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01918:Tmem81	APN	1	132,435,698 (GRCm39)	missense	probably damaging	1.00
R0094:Tmem81	UTSW	1	132,435,787 (GRCm39)	missense	probably benign	0.00
R0255:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0432:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0531:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0532:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0551:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0614:Tmem81	UTSW	1	132,435,469 (GRCm39)	missense	probably benign	0.01
R0651:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0696:Tmem81	UTSW	1	132,435,567 (GRCm39)	missense	probably damaging	1.00
R0973:Tmem81	UTSW	1	132,435,662 (GRCm39)	missense	probably damaging	1.00
R1663:Tmem81	UTSW	1	132,435,635 (GRCm39)	missense	probably benign	0.05
R1750:Tmem81	UTSW	1	132,435,321 (GRCm39)	missense	probably damaging	0.98
R1881:Tmem81	UTSW	1	132,435,948 (GRCm39)	unclassified	probably benign
R2074:Tmem81	UTSW	1	132,435,644 (GRCm39)	missense	probably damaging	0.98
R2121:Tmem81	UTSW	1	132,435,847 (GRCm39)	missense	probably benign	0.00
R3003:Tmem81	UTSW	1	132,435,752 (GRCm39)	missense	probably benign	0.38
R3789:Tmem81	UTSW	1	132,435,809 (GRCm39)	missense	probably benign	0.03
R4638:Tmem81	UTSW	1	132,435,943 (GRCm39)	unclassified	probably benign
R7162:Tmem81	UTSW	1	132,435,355 (GRCm39)	missense	probably damaging	1.00
R7527:Tmem81	UTSW	1	132,435,884 (GRCm39)	missense	probably benign	0.34
R7586:Tmem81	UTSW	1	132,435,511 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmem81	UTSW	1	132,435,949 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGCTCAGGGCTATTCCAAGC -3'
(R):5'- CAGGATGTCTGAGCTGAGAC -3'

Sequencing Primer
(F):5'- CTGGAGGCTCTGTTGTGGTAC -3'
(R):5'- GAGACAGTTCAGCTCAAACGTCTTC -3'

Posted On

2019-09-13