Mutagenetix > Incidental Mutations

Incidental Mutation 'R6256:Tmem209'

506108

Institutional Source

Beutler Lab

Gene Symbol

Tmem209

Ensembl Gene

ENSMUSG00000029782

Gene Name

transmembrane protein 209

Synonyms

2700094F01Rik

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.731) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30479053-30509783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30497167 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 183 (N183K)

Ref Sequence

ENSEMBL: ENSMUSP00000152560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064330] [ENSMUST00000102991] [ENSMUST00000115157] [ENSMUST00000115160] [ENSMUST00000138823] [ENSMUST00000151187] [ENSMUST00000154547] [ENSMUST00000222934]

Predicted Effect

probably benign
Transcript: ENSMUST00000064330
AA Change: N341K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: N341K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	343	4.1e-88	PFAM
Pfam:CytochromB561_N	341	438	2.2e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102991
AA Change: N341K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: N341K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	376	5.2e-107	PFAM
Pfam:CytochromB561_N	372	519	3.1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115157
AA Change: N340K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: N340K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	4	560	4.8e-209	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115160
AA Change: N341K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: N341K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	6	560	6.4e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138823
AA Change: N341K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: N341K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	5	560	1.2e-205	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151187
AA Change: N183K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: N183K

Domain	Start	End	E-Value	Type
Pfam:CytochromB561_N	1	403	1.5e-160	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154547

SMART Domains

Protein: ENSMUSP00000145248
Gene: ENSMUSG00000029782

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202269

Predicted Effect

probably benign
Transcript: ENSMUST00000222934
AA Change: N183K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Tmem209

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Tmem209	APN	6	30487417	missense	probably damaging	0.99
IGL01068:Tmem209	APN	6	30502086	missense	probably benign	0.18
IGL02106:Tmem209	APN	6	30508660	splice site	probably null
IGL02109:Tmem209	APN	6	30497945	missense	probably damaging	1.00
IGL02250:Tmem209	APN	6	30487388	missense	probably damaging	1.00
R0012:Tmem209	UTSW	6	30502113	splice site	probably benign
R0426:Tmem209	UTSW	6	30491182	missense	probably damaging	0.99
R0452:Tmem209	UTSW	6	30487381	missense	probably damaging	1.00
R0557:Tmem209	UTSW	6	30501914	missense	probably damaging	0.99
R0690:Tmem209	UTSW	6	30505834	missense	probably null	1.00
R1202:Tmem209	UTSW	6	30508790	missense	probably benign	0.01
R1697:Tmem209	UTSW	6	30497868	missense	probably benign	0.00
R3821:Tmem209	UTSW	6	30505960	missense	probably damaging	1.00
R4795:Tmem209	UTSW	6	30501955	missense	probably benign	0.00
R5131:Tmem209	UTSW	6	30497167	missense	probably benign	0.00
R5715:Tmem209	UTSW	6	30497923	nonsense	probably null
R6030:Tmem209	UTSW	6	30482968	missense	probably damaging	1.00
R6030:Tmem209	UTSW	6	30482968	missense	probably damaging	1.00
R6153:Tmem209	UTSW	6	30505795	missense	probably benign	0.01
R6181:Tmem209	UTSW	6	30505971	missense	probably damaging	1.00
R6721:Tmem209	UTSW	6	30497175	missense	probably benign	0.00
R6873:Tmem209	UTSW	6	30508456	missense	probably damaging	1.00
R7062:Tmem209	UTSW	6	30502017	missense	probably damaging	1.00
R7341:Tmem209	UTSW	6	30494795	missense	probably benign	0.00
R7461:Tmem209	UTSW	6	30508470	nonsense	probably null
R7790:Tmem209	UTSW	6	30497855	missense	probably damaging	1.00
R8354:Tmem209	UTSW	6	30489309	missense	probably damaging	0.97
R8454:Tmem209	UTSW	6	30489309	missense	probably damaging	0.97
R8527:Tmem209	UTSW	6	30497238	missense	probably damaging	1.00
R8542:Tmem209	UTSW	6	30497238	missense	probably damaging	1.00
RF020:Tmem209	UTSW	6	30487418	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTTCAATGACTGGCACGAAAC -3'
(R):5'- ACCATGTACTAGACCGTTACATTC -3'

Sequencing Primer
(F):5'- GGCACGAAACACAACTTAACATTTTG -3'
(R):5'- TGTACTTAAGAGCAAAACACATACAC -3'

Posted On

2018-02-28