Mutagenetix > Incidental Mutation

Incidental Mutation 'R0255:Tmem81'

34624

Institutional Source

Beutler Lab

Gene Symbol

Tmem81

Ensembl Gene

ENSMUSG00000048174

Gene Name

transmembrane protein 81

Synonyms

4930429O20Rik

MMRRC Submission

038486-MU

Accession Numbers

Essential gene?

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

Stock #

R0255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132433968-132436377 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 132435567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 124 (I124M)

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 damaging
Transcript: ENSMUST00000058167
AA Change: I124M

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

SMART Domains

Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: I124M

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 damaging
Transcript: ENSMUST00000188789
AA Change: I124M

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

SMART Domains

Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: I124M

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: ENSMUST00000189528

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

93% (102/110)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,907 (GRCm39)	F119S	probably damaging	Het
Abca13	C	A	11: 9,531,545 (GRCm39)	Q4591K	probably damaging	Het
Anapc1	A	T	2: 128,476,631 (GRCm39)	M1329K	probably damaging	Het
Aoah	A	T	13: 21,163,710 (GRCm39)	K338*	probably null	Het
Ascc3	A	T	10: 50,521,154 (GRCm39)	T416S	probably benign	Het
Baz2a	A	G	10: 127,950,508 (GRCm39)	T484A	possibly damaging	Het
Btnl6	T	C	17: 34,727,477 (GRCm39)	N351S	probably benign	Het
Cacna1s	T	G	1: 136,046,544 (GRCm39)	I1772S	possibly damaging	Het
Ccdc8	A	G	7: 16,729,582 (GRCm39)	D357G	unknown	Het
Ccna1	T	C	3: 54,958,049 (GRCm39)	E152G	probably damaging	Het
Cct4	A	G	11: 22,949,073 (GRCm39)	D273G	probably damaging	Het
Cd9	A	G	6: 125,440,703 (GRCm39)	V96A	probably damaging	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh20	T	C	1: 109,922,036 (GRCm39)	S43P	probably benign	Het
Cep95	G	A	11: 106,702,097 (GRCm39)	V365M	probably benign	Het
Ces1c	T	C	8: 93,854,152 (GRCm39)	T128A	probably benign	Het
Chil5	A	G	3: 105,926,583 (GRCm39)	V82A	probably damaging	Het
Clmn	T	C	12: 104,748,023 (GRCm39)	D508G	probably benign	Het
Cog8	A	T	8: 107,775,777 (GRCm39)		probably benign	Het
Cst3	A	T	2: 148,717,089 (GRCm39)	V70E	probably damaging	Het
Ctcf	A	G	8: 106,390,671 (GRCm39)	T93A	possibly damaging	Het
Ctsk	C	A	3: 95,416,188 (GRCm39)	N315K	probably benign	Het
Cyp2j12	G	T	4: 96,029,262 (GRCm39)	D6E	probably benign	Het
Dhx34	A	G	7: 15,939,917 (GRCm39)	V655A	probably benign	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Dok7	A	T	5: 35,221,678 (GRCm39)	D26V	probably damaging	Het
Epha8	G	A	4: 136,667,597 (GRCm39)	H295Y	probably damaging	Het
Esf1	A	G	2: 139,990,843 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,671,672 (GRCm39)	S588P	probably benign	Het
Fat3	G	A	9: 15,881,002 (GRCm39)		probably benign	Het
Fhdc1	T	C	3: 84,360,817 (GRCm39)		probably benign	Het
Frmd4b	A	G	6: 97,285,047 (GRCm39)	V338A	probably damaging	Het
Fsd1l	A	G	4: 53,694,727 (GRCm39)	T394A	probably damaging	Het
Gbf1	A	G	19: 46,242,549 (GRCm39)		probably benign	Het
Glg1	G	T	8: 111,886,490 (GRCm39)	Q1101K	possibly damaging	Het
Glt8d2	T	A	10: 82,487,361 (GRCm39)		probably null	Het
Gm19345	T	C	7: 19,588,855 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,226,892 (GRCm39)	D1754E	probably benign	Het
Hydin	A	G	8: 111,291,650 (GRCm39)	T3381A	probably benign	Het
Igkv12-41	G	A	6: 69,835,822 (GRCm39)	T16I	possibly damaging	Het
Insl5	A	G	4: 102,875,313 (GRCm39)	*146Q	probably null	Het
Iqce	A	T	5: 140,651,957 (GRCm39)	I655N	possibly damaging	Het
Irf2bp1	G	A	7: 18,738,927 (GRCm39)	R189H	possibly damaging	Het
Itprid2	T	A	2: 79,490,810 (GRCm39)	L976Q	probably damaging	Het
Itsn1	C	T	16: 91,602,978 (GRCm39)		probably benign	Het
Kansl3	A	T	1: 36,384,050 (GRCm39)	I724N	probably benign	Het
Kcna4	T	C	2: 107,126,907 (GRCm39)	I547T	probably damaging	Het
Klk1b4	A	T	7: 43,860,158 (GRCm39)	I91F	probably benign	Het
Lmbr1	A	G	5: 29,457,753 (GRCm39)	S282P	probably damaging	Het
Lrrc17	G	A	5: 21,765,967 (GRCm39)	A150T	probably benign	Het
Lrrc2	A	G	9: 110,809,966 (GRCm39)	E334G	possibly damaging	Het
Lrrc7	G	A	3: 157,866,475 (GRCm39)	Q1077*	probably null	Het
Mapk8	A	T	14: 33,109,264 (GRCm39)		probably benign	Het
Mast1	T	A	8: 85,638,650 (GRCm39)	T1560S	probably benign	Het
Mdh1b	C	A	1: 63,758,777 (GRCm39)	A272S	probably damaging	Het
Myo15b	T	C	11: 115,777,109 (GRCm39)	Y912H	probably damaging	Het
Nf1	T	G	11: 79,299,525 (GRCm39)		probably null	Het
Nme7	T	A	1: 164,172,944 (GRCm39)	D218E	probably damaging	Het
Nsun7	T	A	5: 66,446,751 (GRCm39)		probably benign	Het
Nxpe2	A	G	9: 48,251,870 (GRCm39)		probably null	Het
Or1e34	A	G	11: 73,778,655 (GRCm39)	V181A	probably benign	Het
Or2ag16	G	A	7: 106,352,196 (GRCm39)	T133I	probably benign	Het
Or2n1c	T	G	17: 38,519,286 (GRCm39)	I50R	probably benign	Het
Or5p53	T	A	7: 107,533,375 (GRCm39)	V216D	probably damaging	Het
P2ry1	T	C	3: 60,910,951 (GRCm39)	V30A	probably benign	Het
Pgm2	T	A	5: 64,269,386 (GRCm39)	I491N	possibly damaging	Het
Pkd1l3	A	T	8: 110,365,386 (GRCm39)	D1169V	probably damaging	Het
Poldip2	T	A	11: 78,403,189 (GRCm39)	S18T	probably benign	Het
Prg4	C	T	1: 150,331,558 (GRCm39)		probably benign	Het
Prkab2	T	A	3: 97,574,728 (GRCm39)	Y241*	probably null	Het
Prmt7	A	G	8: 106,953,839 (GRCm39)		probably benign	Het
Proser3	T	A	7: 30,245,842 (GRCm39)	R80W	probably damaging	Het
Prr12	A	G	7: 44,699,415 (GRCm39)		probably benign	Het
Psmd1	A	T	1: 86,006,304 (GRCm39)	L223F	probably damaging	Het
Rab13	A	G	3: 90,131,088 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,428,347 (GRCm39)	C294Y	probably damaging	Het
Rpl21-ps4	C	A	14: 11,227,556 (GRCm38)		noncoding transcript	Het
Rusc2	T	C	4: 43,423,954 (GRCm39)	V1036A	probably damaging	Het
Sae1	T	A	7: 16,104,247 (GRCm39)	K121*	probably null	Het
Sap130	C	T	18: 31,813,559 (GRCm39)	P539S	probably damaging	Het
Saxo4	C	T	19: 10,452,418 (GRCm39)	R364Q	probably damaging	Het
Scube2	A	G	7: 109,424,079 (GRCm39)	L475P	probably damaging	Het
Sec16a	T	C	2: 26,321,198 (GRCm39)	D1298G	probably damaging	Het
Serpinb9b	T	C	13: 33,222,003 (GRCm39)	F206L	probably benign	Het
Sh3bp1	T	A	15: 78,788,534 (GRCm39)	Y202*	probably null	Het
Shprh	T	A	10: 11,062,135 (GRCm39)	C1177S	possibly damaging	Het
Slc27a6	T	C	18: 58,742,937 (GRCm39)	Y542H	possibly damaging	Het
Slc41a1	T	C	1: 131,771,650 (GRCm39)		probably benign	Het
Slc46a1	T	C	11: 78,361,625 (GRCm39)	F424L	probably damaging	Het
Slc66a2	C	T	18: 80,306,733 (GRCm39)	A101V	probably benign	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc6a20a	A	G	9: 123,493,686 (GRCm39)	V65A	probably damaging	Het
Slc9c1	T	A	16: 45,374,663 (GRCm39)	S343T	probably benign	Het
Spcs3	C	A	8: 54,981,415 (GRCm39)	R60I	probably benign	Het
Tbc1d16	C	A	11: 119,038,401 (GRCm39)	R764L	possibly damaging	Het
Tcaf2	A	T	6: 42,619,838 (GRCm39)	V63E	possibly damaging	Het
Tmc1	G	T	19: 20,766,951 (GRCm39)	A750E	possibly damaging	Het
Tmem273	A	G	14: 32,530,320 (GRCm39)	K83E	possibly damaging	Het
Tmx3	T	C	18: 90,558,130 (GRCm39)	I394T	probably damaging	Het
Trank1	G	A	9: 111,195,092 (GRCm39)	E1039K	possibly damaging	Het
Trpc4ap	A	G	2: 155,499,866 (GRCm39)		probably benign	Het
Tsen54	T	C	11: 115,706,234 (GRCm39)	C123R	probably damaging	Het
Ubtd1	A	G	19: 42,020,373 (GRCm39)	D39G	possibly damaging	Het
Vmn1r181	A	T	7: 23,683,759 (GRCm39)	M75L	probably benign	Het
Zc3h7a	T	C	16: 10,958,601 (GRCm39)	T847A	probably damaging	Het
Zc3hav1	A	G	6: 38,313,485 (GRCm39)	C187R	probably damaging	Het
Zfp692	G	A	11: 58,201,229 (GRCm39)		probably benign	Het
Zmiz1	G	A	14: 25,654,919 (GRCm39)		probably benign	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
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
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'- TCAATGCCACAGGATGCAGTGTTAC -3'
(R):5'- ACAATTCCTATGCCCAAGGCCG -3'

Sequencing Primer
(F):5'- TGGCCTTGGCTACAAGGAAG -3'
(R):5'- ACTTCTGATCCTCAGTAAGGGAC -3'

Posted On

2013-05-09