Mutagenetix > Incidental Mutation

Incidental Mutation 'R1881:Tmem81'

209087

Institutional Source

Beutler Lab

Gene Symbol

Tmem81

Ensembl Gene

ENSMUSG00000048174

Gene Name

transmembrane protein 81

Synonyms

4930429O20Rik

MMRRC Submission

039902-MU

Accession Numbers

Essential gene?

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

Stock #

R1881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132433968-132436377 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 132435948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141003 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000058167
AA Change: D251E

SMART Domains

Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: D251E

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

noncoding transcript
Transcript: ENSMUST00000186487

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

noncoding transcript
Transcript: ENSMUST00000187834

Predicted Effect

probably benign
Transcript: ENSMUST00000188065

Predicted Effect

unknown
Transcript: ENSMUST00000188789
AA Change: D251E

SMART Domains

Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: D251E

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

noncoding transcript
Transcript: ENSMUST00000190601

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

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: ENSMUST00000189528

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

96% (71/74)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	A	11: 84,161,213 (GRCm39)	Y1026*	probably null	Het
Acaca	T	G	11: 84,191,297 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,678,503 (GRCm39)	M483I	probably damaging	Het
Adgrb2	G	A	4: 129,904,078 (GRCm39)	G735S	probably damaging	Het
Akap9	A	G	5: 4,100,173 (GRCm39)	T2612A	probably benign	Het
Armc1	A	T	3: 19,189,060 (GRCm39)	S202T	possibly damaging	Het
Arsj	T	C	3: 126,232,486 (GRCm39)	S411P	probably damaging	Het
Ash1l	T	C	3: 88,888,862 (GRCm39)	V247A	probably benign	Het
Camta2	T	C	11: 70,562,842 (GRCm39)	D935G	probably benign	Het
Cc2d2a	G	T	5: 43,898,170 (GRCm39)	V1626F	probably damaging	Het
Cpne3	T	A	4: 19,535,266 (GRCm39)	R255S	probably benign	Het
Cramp1	A	G	17: 25,196,656 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,484,563 (GRCm39)	M396L	probably benign	Het
Ctnnd2	A	G	15: 31,005,227 (GRCm39)		probably benign	Het
Cul7	A	T	17: 46,962,888 (GRCm39)	Y173F	probably damaging	Het
Dach1	A	T	14: 98,138,832 (GRCm39)	M537K	probably benign	Het
Ddhd2	T	C	8: 26,217,727 (GRCm39)	I717V	probably damaging	Het
Dnm1	C	T	2: 32,213,742 (GRCm39)	V475I	probably damaging	Het
Dnm3	C	T	1: 162,305,517 (GRCm39)		probably benign	Het
Dsg1c	T	A	18: 20,405,597 (GRCm39)		probably benign	Het
Eaf2	A	T	16: 36,620,941 (GRCm39)		probably benign	Het
En1	T	A	1: 120,530,904 (GRCm39)	V48E	unknown	Het
Eral1	T	A	11: 77,966,875 (GRCm39)	H180L	possibly damaging	Het
Fry	T	A	5: 150,401,511 (GRCm39)	C2760S	probably damaging	Het
Gtf2h3	C	T	5: 124,722,336 (GRCm39)	A113V	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ifnl2	T	A	7: 28,209,112 (GRCm39)	R68W	probably damaging	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Krtap4-1	C	T	11: 99,518,990 (GRCm39)	G7S	probably null	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mup5	C	A	4: 61,752,868 (GRCm39)	E52*	probably null	Het
Myh15	A	G	16: 48,891,446 (GRCm39)	I189V	probably damaging	Het
Nav3	T	A	10: 109,688,420 (GRCm39)	Q619L	probably damaging	Het
Or14a257	T	C	7: 86,138,646 (GRCm39)	M38V	probably benign	Het
Or1p1	A	T	11: 74,179,492 (GRCm39)	T7S	probably benign	Het
Or4n4b	A	G	14: 50,536,472 (GRCm39)	I98T	probably damaging	Het
Or5e1	T	C	7: 108,354,335 (GRCm39)	S91P	probably damaging	Het
Pam	T	C	1: 97,850,876 (GRCm39)	T161A	probably benign	Het
Phf8-ps	T	A	17: 33,284,258 (GRCm39)	D848V	probably damaging	Het
Pigs	T	C	11: 78,232,582 (GRCm39)	V472A	probably benign	Het
Plek	A	T	11: 16,940,111 (GRCm39)	N176K	probably benign	Het
Poc5	A	G	13: 96,535,239 (GRCm39)	N168S	probably benign	Het
Pomt2	G	T	12: 87,182,370 (GRCm39)	A219D	probably damaging	Het
Rttn	T	A	18: 89,033,336 (GRCm39)	S716T	probably damaging	Het
Sema4b	A	T	7: 79,866,540 (GRCm39)	S207C	probably damaging	Het
Slc25a20	G	A	9: 108,557,408 (GRCm39)		probably null	Het
Slc5a6	A	T	5: 31,194,155 (GRCm39)	L634Q	probably damaging	Het
Slfn3	A	G	11: 83,104,202 (GRCm39)	I235V	possibly damaging	Het
Smarcc1	T	A	9: 110,004,167 (GRCm39)	L407Q	probably damaging	Het
Spata32	T	C	11: 103,101,561 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,723,783 (GRCm39)		probably null	Het
Thada	A	G	17: 84,744,130 (GRCm39)	V726A	probably benign	Het
Tmed7	A	T	18: 46,721,622 (GRCm39)		probably null	Het
Tmem161a	G	A	8: 70,633,435 (GRCm39)	G94S	probably null	Het
Trim63	C	A	4: 134,043,702 (GRCm39)	A55E	probably damaging	Het
Trmt1	A	C	8: 85,415,896 (GRCm39)		probably benign	Het
Trpv4	C	T	5: 114,761,687 (GRCm39)	V814M	probably benign	Het
Tshz3	T	C	7: 36,471,079 (GRCm39)	S1023P	possibly damaging	Het
Upk3bl	G	A	5: 136,086,157 (GRCm39)	R31Q	probably benign	Het
Usp40	T	C	1: 87,921,993 (GRCm39)	D290G	probably benign	Het
Vmn1r192	G	T	13: 22,371,764 (GRCm39)	A152E	probably benign	Het
Vmn1r26	T	A	6: 57,985,650 (GRCm39)	T180S	probably benign	Het
Wdr48	G	T	9: 119,738,606 (GRCm39)	V89L	probably benign	Het
Wdr6	G	T	9: 108,450,378 (GRCm39)		probably null	Het
Zfp345	A	G	2: 150,314,275 (GRCm39)	Y421H	probably damaging	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
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
R7375:Tmem81	UTSW	1	132,435,301 (GRCm39)	missense	possibly damaging	0.76
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'- GAGGGTCCTTCCTCCAAAGTTG -3'
(R):5'- CTGCCCTGAACTACTGAGGTTAC -3'

Sequencing Primer
(F):5'- TGGTAAACCTAAATTTCCAACAGTCC -3'
(R):5'- GAACTACTGAGGTTACATCTTCCCAG -3'

Posted On

2014-06-30