Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Tmem81'

231425

Institutional Source

Beutler Lab

Gene Symbol

Tmem81

Ensembl Gene

ENSMUSG00000048174

Gene Name

transmembrane protein 81

Synonyms

4930429O20Rik

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

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

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132433968-132436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132435847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 218 (Q218K)

Ref Sequence

ENSEMBL: ENSMUSP00000139911 (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

probably benign
Transcript: ENSMUST00000058167
AA Change: Q218K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: Q218K

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

probably benign
Transcript: ENSMUST00000188789
AA Change: Q218K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: Q218K

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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Adnp2	A	G	18: 80,172,385 (GRCm39)	F675L	probably benign	Het
Akna	G	A	4: 63,295,137 (GRCm39)	T1024I	probably benign	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Aox3	T	C	1: 58,191,708 (GRCm39)		probably benign	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,247,704 (GRCm39)	N263Y	probably damaging	Het
Arpp21	A	G	9: 111,965,738 (GRCm39)	S375P	probably damaging	Het
Bscl2	G	T	19: 8,817,146 (GRCm39)	E25*	probably null	Het
Ccl12	T	A	11: 81,992,776 (GRCm39)	S17R	probably damaging	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Ceacam9	T	A	7: 16,455,928 (GRCm39)	F12I	probably benign	Het
Cfap47	T	C	X: 78,553,927 (GRCm39)	I267V	probably benign	Het
Cldn23	A	G	8: 36,293,389 (GRCm39)	V33A	probably benign	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Col20a1	G	C	2: 180,638,249 (GRCm39)	A346P	probably damaging	Het
Col6a3	T	C	1: 90,738,087 (GRCm39)	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dcdc2a	T	G	13: 25,303,268 (GRCm39)	S266R	possibly damaging	Het
Diaph1	A	T	18: 38,029,442 (GRCm39)	M330K	unknown	Het
Dnah5	C	T	15: 28,297,151 (GRCm39)		probably benign	Het
F13a1	T	A	13: 37,209,653 (GRCm39)	Y104F	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancl	G	T	11: 26,409,841 (GRCm39)		probably benign	Het
Gm10477	A	G	X: 55,570,192 (GRCm39)	K31E	probably damaging	Het
Gstm7	T	C	3: 107,834,230 (GRCm39)	M175V	probably benign	Het
Hcn4	T	C	9: 58,731,341 (GRCm39)	S183P	unknown	Het
Heatr1	T	C	13: 12,418,145 (GRCm39)	V359A	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ints6l	T	A	X: 55,550,228 (GRCm39)	S718T	probably benign	Het
Kctd5	T	C	17: 24,274,940 (GRCm39)	T212A	probably benign	Het
Kdm3b	T	C	18: 34,929,833 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,835,556 (GRCm39)	Y1746C	probably damaging	Het
Mageb5	A	G	X: 90,823,701 (GRCm39)	I226T	probably damaging	Het
Mdc1	C	T	17: 36,158,835 (GRCm39)	A405V	probably benign	Het
Mlc1	A	G	15: 88,847,634 (GRCm39)	Y305H	probably benign	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Muc4	A	G	16: 32,580,612 (GRCm39)	Y2474C	unknown	Het
Mybphl	A	C	3: 108,282,492 (GRCm39)	N175T	probably damaging	Het
Ncbp3	T	C	11: 72,944,304 (GRCm39)	V102A	possibly damaging	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Odad4	T	A	11: 100,457,837 (GRCm39)		probably null	Het
Or7e173	T	G	9: 19,938,797 (GRCm39)	I146L	probably benign	Het
Or8j3	T	A	2: 86,028,340 (GRCm39)	Y252F	possibly damaging	Het
Palb2	T	C	7: 121,727,004 (GRCm39)	T289A	possibly damaging	Het
Pde10a	A	T	17: 9,196,047 (GRCm39)	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,260,577 (GRCm39)	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,383,325 (GRCm39)		probably null	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,355,941 (GRCm39)	M203V	possibly damaging	Het
Slc6a21	A	T	7: 44,937,886 (GRCm39)	I726F	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,177,067 (GRCm39)	S75P	probably damaging	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmed11	G	A	5: 108,943,198 (GRCm39)		probably benign	Het
Tnfsf11	G	A	14: 78,537,333 (GRCm39)	T110I	probably benign	Het
Tub	G	A	7: 108,625,944 (GRCm39)	G232S	probably damaging	Het
Vmn2r121	A	T	X: 123,043,439 (GRCm39)		probably null	Het
Vwa5b1	T	C	4: 138,315,880 (GRCm39)	T621A	probably benign	Het
Ythdf3	T	C	3: 16,259,356 (GRCm39)	F501S	possibly 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
R1881:Tmem81	UTSW	1	132,435,948 (GRCm39)	unclassified	probably benign
R2074:Tmem81	UTSW	1	132,435,644 (GRCm39)	missense	probably damaging	0.98
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'- GACGTATCGATGTGACGTGCAG -3'
(R):5'- GACACTTCACCATCAGAGGC -3'

Sequencing Primer
(F):5'- GCTCTATTTTGGACTGAGGG -3'
(R):5'- CATACAATCTAGCTTAGCTTCCTAGG -3'

Posted On

2014-09-18