Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Tmem209'

192318

Institutional Source

Beutler Lab

Gene Symbol

Tmem209

Ensembl Gene

ENSMUSG00000029782

Gene Name

transmembrane protein 209

Synonyms

2700094F01Rik

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30479053-30509783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30497868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 143 (C143S)

Ref Sequence

ENSEMBL: ENSMUSP00000152560 (fasta)

Gene Model

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

AlphaFold

Q8BRG8

Predicted Effect

probably benign
Transcript: ENSMUST00000064330
AA Change: C301S

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

SMART Domains

Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: C301S

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: C301S

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

SMART Domains

Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: C301S

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: C300S

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

SMART Domains

Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: C300S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115160
AA Change: C301S

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

SMART Domains

Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: C301S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000138823
AA Change: C301S

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

SMART Domains

Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: C301S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151187
AA Change: C143S

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

SMART Domains

Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: C143S

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

probably benign
Transcript: ENSMUST00000222934
AA Change: C143S

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

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

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
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
R6256:Tmem209	UTSW	6	30497167	missense	probably benign	0.00
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
R8889:Tmem209	UTSW	6	30497943	missense	possibly damaging	0.91
R8892:Tmem209	UTSW	6	30497943	missense	possibly damaging	0.91
R8928:Tmem209	UTSW	6	30489366	missense	probably damaging	1.00
R9222:Tmem209	UTSW	6	30506839	missense	probably damaging	0.98
RF020:Tmem209	UTSW	6	30487418	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCAAAAGCGAGTTCACTATGAATGCC -3'
(R):5'- CTAGAATACAGTTGGAGGGTGCTTGTC -3'

Sequencing Primer
(F):5'- CGAGTTCACTATGAATGCCAAATG -3'
(R):5'- GCCTAGTTCCTAGATGCCCAG -3'

Posted On

2014-05-14