Mutagenetix > Incidental Mutation

Incidental Mutation 'R0135:Tmem210'

21854

Institutional Source

Beutler Lab

Gene Symbol

Tmem210

Ensembl Gene

ENSMUSG00000026963

Gene Name

transmembrane protein 210

Synonyms

4930571C24Rik

MMRRC Submission

038420-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R0135 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

25178157-25179201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25178480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 47 (A47V)

Ref Sequence

ENSEMBL: ENSMUSP00000028340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028335] [ENSMUST00000028337] [ENSMUST00000028340] [ENSMUST00000028341] [ENSMUST00000114307] [ENSMUST00000114308] [ENSMUST00000114310] [ENSMUST00000114318] [ENSMUST00000114317] [ENSMUST00000114312] [ENSMUST00000114314]

AlphaFold

Q9D2F0

Predicted Effect

probably benign
Transcript: ENSMUST00000028335

SMART Domains

Protein: ENSMUSP00000028335
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	6.6e-35	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	1.5e-18	PFAM
PDB:3BYA\|B	875	898	4e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000028337

SMART Domains

Protein: ENSMUSP00000028337
Gene: ENSMUSG00000026961

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LRRNT	42	75	1.86e0	SMART
LRR	72	93	7.57e0	SMART
LRR	95	117	6.96e0	SMART
LRR_TYP	118	141	1e-5	SMART
LRR	142	165	6.22e0	SMART
LRR	166	189	2.86e-1	SMART
LRRCT	201	254	3.01e-5	SMART
transmembrane domain	267	289	N/A	INTRINSIC
low complexity region	293	308	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000028340
AA Change: A47V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028340
Gene: ENSMUSG00000026963
AA Change: A47V

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:TMEM210	32	144	1.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028341

SMART Domains

Protein: ENSMUSP00000028341
Gene: ENSMUSG00000026965

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	123	133	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
low complexity region	456	467	N/A	INTRINSIC
CULLIN	515	663	6.72e-9	SMART
APC2	772	832	3.67e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114307

SMART Domains

Protein: ENSMUSP00000109946
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	1e-34	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	3.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114308

SMART Domains

Protein: ENSMUSP00000109947
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	8e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114310

SMART Domains

Protein: ENSMUSP00000109949
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	39	299	3.6e-24	PFAM
Blast:PBPe	352	420	9e-37	BLAST
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	8.4e-17	PFAM
PDB:3BYA\|B	896	919	4e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129723

Predicted Effect

probably benign
Transcript: ENSMUST00000114318

SMART Domains

Protein: ENSMUSP00000109957
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	8.4e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.4e-19	PFAM
PDB:3BYA\|B	896	919	4e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114317

SMART Domains

Protein: ENSMUSP00000109956
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	378	7.7e-31	PFAM
PBPe	454	816	2.71e-97	SMART
Lig_chan-Glu_bd	460	528	2.99e-18	SMART
Pfam:CaM_bdg_C0	856	884	3.3e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114312

SMART Domains

Protein: ENSMUSP00000109951
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	5.9e-35	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114314

SMART Domains

Protein: ENSMUSP00000109953
Gene: ENSMUSG00000026959

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	38	357	1.1e-34	PFAM
PBPe	433	795	2.71e-97	SMART
Lig_chan-Glu_bd	439	507	2.99e-18	SMART
Pfam:CaM_bdg_C0	835	863	3.3e-19	PFAM
PDB:3BYA\|B	875	898	4e-6	PDB

Meta Mutation Damage Score

0.2131

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.6%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,515 (GRCm39)	F207S	probably damaging	Het
Abhd8	T	A	8: 71,910,718 (GRCm39)	K363N	probably benign	Het
Adam11	T	A	11: 102,667,399 (GRCm39)	V653E	probably damaging	Het
Adam18	T	C	8: 25,155,558 (GRCm39)	S154G	possibly damaging	Het
Adamts1	T	C	16: 85,595,591 (GRCm39)		probably benign	Het
Afm	G	T	5: 90,698,181 (GRCm39)	V528L	probably benign	Het
Alox12b	C	T	11: 69,053,574 (GRCm39)	H145Y	probably benign	Het
Ankmy2	C	A	12: 36,220,434 (GRCm39)		probably benign	Het
Aox3	G	A	1: 58,164,247 (GRCm39)		probably benign	Het
Arhgap28	T	C	17: 68,171,583 (GRCm39)	D396G	probably damaging	Het
B430203G13Rik	T	C	12: 17,974,489 (GRCm39)		noncoding transcript	Het
Bean1	C	T	8: 104,943,807 (GRCm39)	P121S	probably damaging	Het
Bok	T	C	1: 93,614,229 (GRCm39)	S21P	probably damaging	Het
Brwd1	A	C	16: 95,848,304 (GRCm39)	N572K	probably damaging	Het
C5ar1	A	T	7: 15,982,864 (GRCm39)	V52E	probably damaging	Het
Cblif	G	T	19: 11,735,118 (GRCm39)	C246F	probably damaging	Het
Cdr2l	C	A	11: 115,284,497 (GRCm39)	P278T	probably damaging	Het
Cnga4	T	A	7: 105,056,055 (GRCm39)	I219N	probably damaging	Het
Cpne2	C	T	8: 95,281,553 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,085,379 (GRCm39)	S1057P	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dgcr2	A	G	16: 17,676,306 (GRCm39)	S152P	probably damaging	Het
Dstyk	A	T	1: 132,390,672 (GRCm39)	D828V	probably damaging	Het
Eml2	T	C	7: 18,937,877 (GRCm39)	S582P	probably damaging	Het
Engase	T	C	11: 118,375,304 (GRCm39)	Y359H	possibly damaging	Het
Fat3	T	C	9: 15,918,073 (GRCm39)	D1450G	probably damaging	Het
Fbxw8	A	T	5: 118,208,552 (GRCm39)	I467N	probably damaging	Het
Fhdc1	A	T	3: 84,352,925 (GRCm39)	Y767N	probably damaging	Het
Flii	T	C	11: 60,614,204 (GRCm39)	D105G	probably damaging	Het
Gaa	C	T	11: 119,169,716 (GRCm39)	T590I	probably benign	Het
Gabrr1	T	A	4: 33,160,224 (GRCm39)	S303T	probably damaging	Het
Garre1	T	C	7: 33,945,382 (GRCm39)	I499M	probably damaging	Het
Glp1r	A	G	17: 31,143,551 (GRCm39)	I196V	probably benign	Het
Grm6	G	A	11: 50,744,050 (GRCm39)	E174K	probably damaging	Het
Helz2	A	C	2: 180,874,062 (GRCm39)	L2144R	probably damaging	Het
Itpr1	A	T	6: 108,465,443 (GRCm39)		probably benign	Het
Kcns1	A	T	2: 164,006,875 (GRCm39)	S363T	possibly damaging	Het
Kif13a	A	T	13: 46,947,419 (GRCm39)	V855E	probably damaging	Het
Krt42	T	C	11: 100,153,985 (GRCm39)	T424A	possibly damaging	Het
Lct	A	T	1: 128,212,860 (GRCm39)	F1931Y	probably damaging	Het
Lrp1b	A	T	2: 41,159,251 (GRCm39)	V1563E	probably damaging	Het
Lrrc37	C	A	11: 103,508,873 (GRCm39)		probably benign	Het
Lzts2	T	C	19: 45,014,626 (GRCm39)		probably benign	Het
Mamdc4	C	T	2: 25,456,932 (GRCm39)	R615Q	possibly damaging	Het
Mei1	C	T	15: 81,956,170 (GRCm39)	Q133*	probably null	Het
Mif4gd	T	C	11: 115,499,291 (GRCm39)	E197G	probably damaging	Het
Ncdn	A	T	4: 126,640,462 (GRCm39)	S544T	probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Or52a5	T	A	7: 103,426,970 (GRCm39)	D194V	probably damaging	Het
Padi6	T	C	4: 140,464,663 (GRCm39)	T114A	probably benign	Het
Pigk	G	T	3: 152,450,343 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,784,045 (GRCm39)	F197Y	possibly damaging	Het
Pld5	A	T	1: 175,798,155 (GRCm39)	F415I	probably damaging	Het
Pnpla5	A	G	15: 83,998,150 (GRCm39)	L364P	probably damaging	Het
Prrc2c	G	A	1: 162,543,052 (GRCm39)		probably benign	Het
Rab32	C	T	10: 10,426,584 (GRCm39)	D121N	probably damaging	Het
Rab44	A	T	17: 29,357,106 (GRCm39)	T79S	probably benign	Het
Reln	G	T	5: 22,333,647 (GRCm39)	N258K	probably damaging	Het
Retsat	A	G	6: 72,579,755 (GRCm39)	T177A	probably damaging	Het
Serpinf2	T	A	11: 75,327,219 (GRCm39)	H236L	probably damaging	Het
Slc26a6	A	T	9: 108,737,794 (GRCm39)		probably benign	Het
Slitrk1	T	A	14: 109,149,061 (GRCm39)	E550V	probably benign	Het
Smarcd3	A	T	5: 24,800,497 (GRCm39)		probably benign	Het
Spdye4a	A	C	5: 143,210,857 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,474,348 (GRCm39)	G572D	probably damaging	Het
Tcaf3	C	T	6: 42,566,692 (GRCm39)	R799K	probably benign	Het
Tg	A	G	15: 66,566,719 (GRCm39)	S1256G	probably benign	Het
Them4	A	T	3: 94,230,877 (GRCm39)		probably benign	Het
Tnfrsf1b	A	G	4: 144,955,616 (GRCm39)	Y47H	probably benign	Het
Tnik	T	G	3: 28,661,394 (GRCm39)	N598K	possibly damaging	Het
Ttc3	A	G	16: 94,263,127 (GRCm39)	N1498D	possibly damaging	Het
Ttll4	C	A	1: 74,719,087 (GRCm39)	H313N	possibly damaging	Het
Vipr2	A	G	12: 116,106,447 (GRCm39)	I348V	probably benign	Het
Vps13a	A	G	19: 16,758,129 (GRCm39)	V2A	probably damaging	Het
Vps72	G	A	3: 95,026,508 (GRCm39)	R151K	probably damaging	Het
Zfp106	A	G	2: 120,350,968 (GRCm39)	V1561A	probably damaging	Het
Zfp658	C	A	7: 43,223,019 (GRCm39)	Y431*	probably null	Het
Zkscan2	T	C	7: 123,079,864 (GRCm39)	K698E	possibly damaging	Het

Other mutations in Tmem210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02651:Tmem210	APN	2	25,179,101 (GRCm39)	missense	possibly damaging	0.71
R1758:Tmem210	UTSW	2	25,178,435 (GRCm39)	missense	probably damaging	0.96
R3837:Tmem210	UTSW	2	25,178,444 (GRCm39)	missense	possibly damaging	0.60
R3838:Tmem210	UTSW	2	25,178,444 (GRCm39)	missense	possibly damaging	0.60
R6170:Tmem210	UTSW	2	25,178,776 (GRCm39)	critical splice acceptor site	probably null
R6348:Tmem210	UTSW	2	25,178,796 (GRCm39)	missense	probably benign	0.27
R6349:Tmem210	UTSW	2	25,179,048 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GGCAAGCCATTTGTGTCCTTCAAG -3'
(R):5'- ATGCCGAAAGTCCCTGGAACATC -3'

Sequencing Primer
(F):5'- TGTCCTTCAAGGGCCACAG -3'
(R):5'- GAAAGTCCCTGGAACATCTTCCTAC -3'

Posted On

2013-04-12