Mutagenetix > Incidental Mutations

Incidental Mutation 'R3789:Tmem81'

272417

Institutional Source

Beutler Lab

Gene Symbol

Tmem81

Ensembl Gene

ENSMUSG00000048174

Gene Name

transmembrane protein 81

Synonyms

4930429O20Rik

MMRRC Submission

041604-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R3789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132506230-132508639 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132508071 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 205 (N205S)

Ref Sequence

ENSEMBL: ENSMUSP00000139911 (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

probably benign
Transcript: ENSMUST00000058167
AA Change: N205S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062565
Gene: ENSMUSG00000048174
AA Change: N205S

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: N205S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139911
Gene: ENSMUSG00000048174
AA Change: N205S

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

noncoding transcript
Transcript: ENSMUST00000190601

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	C	A	2: 148,847,958	E92*	probably null	Het
Abca13	T	A	11: 9,510,668	I4226N	probably damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Acvrl1	C	T	15: 101,137,469	T292M	probably damaging	Het
Adamts8	T	C	9: 30,959,292	S688P	probably damaging	Het
Adprhl2	A	T	4: 126,316,751	I312N	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Clca4a	C	A	3: 144,974,956	G20V	probably damaging	Het
Col12a1	C	A	9: 79,639,723	V2276L	possibly damaging	Het
Drosha	T	A	15: 12,912,537	Y1080*	probably null	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ebf2	T	A	14: 67,239,493		probably null	Het
Emc8	T	C	8: 120,658,130	T195A	probably benign	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Frs3	G	A	17: 47,699,696		probably null	Het
Fsip2	T	C	2: 82,982,714	S640P	probably damaging	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hivep3	T	C	4: 120,098,416	S1310P	probably damaging	Het
Hltf	C	T	3: 20,069,047	P200S	probably damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Lrp1	T	C	10: 127,571,969	D1817G	possibly damaging	Het
Lrpprc	T	C	17: 84,771,528	I253V	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
Mcm9	G	A	10: 53,616,017	R403W	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mug1	G	A	6: 121,884,628	V1350I	probably benign	Het
Olfr663	T	A	7: 104,703,949	D127E	probably damaging	Het
Pclo	A	G	5: 14,680,450		probably benign	Het
Plekha7	A	C	7: 116,175,734	I175R	probably damaging	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Prmt8	A	T	6: 127,711,147	I236N	probably damaging	Het
Rexo2	A	G	9: 48,473,062	I139T	probably damaging	Het
Rsbn1l	A	C	5: 20,896,108	S811R	probably benign	Het
Sec24b	T	C	3: 130,020,627	D345G	probably benign	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Snx33	T	C	9: 56,918,560	E539G	probably benign	Het
Sorcs3	A	G	19: 48,398,711	T212A	possibly damaging	Het
Spa17	T	G	9: 37,611,845	K49Q	possibly damaging	Het
St3gal6	C	T	16: 58,484,773	E109K	probably benign	Het
Stat4	A	G	1: 52,011,796	N5D	probably benign	Het
Tmem232	C	T	17: 65,382,525	D532N	probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r23	A	T	6: 123,741,389	N567I	probably damaging	Het

Other mutations in Tmem81

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01918:Tmem81	APN	1	132507960	missense	probably damaging	1.00
R0094:Tmem81	UTSW	1	132508049	missense	probably benign	0.00
R0255:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0432:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0531:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0532:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0551:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0614:Tmem81	UTSW	1	132507731	missense	probably benign	0.01
R0651:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0696:Tmem81	UTSW	1	132507829	missense	probably damaging	1.00
R0973:Tmem81	UTSW	1	132507924	missense	probably damaging	1.00
R1663:Tmem81	UTSW	1	132507897	missense	probably benign	0.05
R1750:Tmem81	UTSW	1	132507583	missense	probably damaging	0.98
R1881:Tmem81	UTSW	1	132508210	unclassified	probably benign
R2074:Tmem81	UTSW	1	132507906	missense	probably damaging	0.98
R2121:Tmem81	UTSW	1	132508109	missense	probably benign	0.00
R3003:Tmem81	UTSW	1	132508014	missense	probably benign	0.38
R4638:Tmem81	UTSW	1	132508205	unclassified	probably benign
R7162:Tmem81	UTSW	1	132507617	missense	probably damaging	1.00
R7375:Tmem81	UTSW	1	132507563	missense	possibly damaging	0.76
R7527:Tmem81	UTSW	1	132508146	missense	probably benign	0.34
R7586:Tmem81	UTSW	1	132507773	missense	probably damaging	0.99
Z1176:Tmem81	UTSW	1	132508211	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTTTTCAGACCCTTCCGAG -3'
(R):5'- AGACTTGCATCATAAGCGGG -3'

Sequencing Primer
(F):5'- TAAACCAGCCTATGAGTATAACGCTG -3'
(R):5'- CAATTCCTATGCCCAAGG -3'

Posted On

2015-03-25