Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Treml1'

298305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Treml1

Ensembl Gene

ENSMUSG00000023993

Gene Name

triggering receptor expressed on myeloid cells-like 1

Synonyms

TLT-1, 5430401J17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

48666944-48674204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48667459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 115 (T115A)

Ref Sequence

ENSEMBL: ENSMUSP00000153104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024792] [ENSMUST00000223956] [ENSMUST00000224001] [ENSMUST00000225849]

AlphaFold

Q8K558

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024792
AA Change: T115A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993
AA Change: T115A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	24	124	2.83e-3	SMART
transmembrane domain	179	201	N/A	INTRINSIC
low complexity region	260	280	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223956

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223968

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224001
AA Change: T115A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225849
AA Change: T115A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduced platelet count, defective platelet aggregation, prolonged bleeding times, enhanced inflammatory hemorrhage, and increased susceptibility to death from endotoxin (LPS) challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,495 (GRCm39)	A193S	probably damaging	Het
Adcy4	T	C	14: 56,006,627 (GRCm39)	T1069A	probably benign	Het
Arg2	A	T	12: 79,197,533 (GRCm39)	I184F	probably benign	Het
Asb18	G	A	1: 89,942,113 (GRCm39)	P63S	probably damaging	Het
Cep85	T	C	4: 133,883,634 (GRCm39)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,291,413 (GRCm39)		probably null	Het
Cog2	A	G	8: 125,256,698 (GRCm39)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,913,720 (GRCm39)	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183 (GRCm39)	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,878,066 (GRCm39)	Y435C	probably damaging	Het
Dsc3	A	T	18: 20,098,885 (GRCm39)	C765S	probably benign	Het
Egfem1	T	A	3: 29,722,529 (GRCm39)	D362E	probably benign	Het
Gm28040	A	T	1: 133,247,069 (GRCm39)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,338,202 (GRCm39)	M22T	probably benign	Het
Hdac1-ps	A	G	17: 78,799,303 (GRCm39)	E98G	probably damaging	Het
Hipk2	A	G	6: 38,680,436 (GRCm39)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,462,948 (GRCm39)	S235R	probably damaging	Het
Jag1	T	C	2: 136,933,867 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,125,607 (GRCm39)		probably benign	Het
Klhl3	T	C	13: 58,166,685 (GRCm39)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,768,607 (GRCm39)		probably benign	Het
Large1	T	A	8: 73,775,042 (GRCm39)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,760,413 (GRCm39)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,561,221 (GRCm39)	D582G	probably benign	Het
Nedd9	T	C	13: 41,470,211 (GRCm39)	D314G	probably damaging	Het
Nip7	T	C	8: 107,784,825 (GRCm39)		probably benign	Het
Or10j27	T	G	1: 172,957,901 (GRCm39)	K294N	probably damaging	Het
Or52ae9	A	T	7: 103,389,710 (GRCm39)	C246S	possibly damaging	Het
Or7a42	C	A	10: 78,791,773 (GRCm39)	H245N	probably damaging	Het
P3h1	T	C	4: 119,095,053 (GRCm39)		probably benign	Het
Pcp4l1	C	T	1: 171,003,133 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,330 (GRCm39)	G118D	probably benign	Het
Prkg1	T	C	19: 30,602,134 (GRCm39)	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,091,497 (GRCm39)	L534P	possibly damaging	Het
Rnf123	A	G	9: 107,943,547 (GRCm39)	S563P	probably damaging	Het
Scart1	A	G	7: 139,800,491 (GRCm39)	M91V	probably benign	Het
Sdk2	A	T	11: 113,759,747 (GRCm39)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,578,688 (GRCm39)	I655T	possibly damaging	Het
Syne1	T	C	10: 4,993,618 (GRCm39)	K524R	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,123,372 (GRCm39)	A135V	probably benign	Het
Tenm3	A	C	8: 48,751,991 (GRCm39)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,092,840 (GRCm39)	V1247I	probably benign	Het
Ttn	T	C	2: 76,540,306 (GRCm39)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,571,342 (GRCm39)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,709,074 (GRCm39)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,286,083 (GRCm39)	S194A	probably benign	Het
Wdr1	G	A	5: 38,703,165 (GRCm39)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,443,097 (GRCm39)		probably benign	Het
Zfp668	A	T	7: 127,467,494 (GRCm39)	C27*	probably null	Het

Other mutations in Treml1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Treml1	APN	17	48,672,627 (GRCm39)	splice site	probably benign
IGL01868:Treml1	APN	17	48,673,035 (GRCm39)	missense	probably benign	0.41
IGL03136:Treml1	APN	17	48,671,879 (GRCm39)	splice site	probably benign
IGL03242:Treml1	APN	17	48,673,016 (GRCm39)	splice site	probably benign
R0047:Treml1	UTSW	17	48,672,008 (GRCm39)	nonsense	probably null
R0047:Treml1	UTSW	17	48,672,008 (GRCm39)	nonsense	probably null
R0226:Treml1	UTSW	17	48,667,486 (GRCm39)	missense	probably damaging	0.99
R1385:Treml1	UTSW	17	48,667,226 (GRCm39)	missense	probably damaging	1.00
R1602:Treml1	UTSW	17	48,671,917 (GRCm39)	missense	probably damaging	0.97
R4379:Treml1	UTSW	17	48,667,424 (GRCm39)	missense	probably damaging	1.00
R4865:Treml1	UTSW	17	48,673,885 (GRCm39)	missense	probably benign	0.00
R5837:Treml1	UTSW	17	48,667,180 (GRCm39)	missense	possibly damaging	0.74
R7102:Treml1	UTSW	17	48,673,700 (GRCm39)	missense	probably damaging	0.98
R7107:Treml1	UTSW	17	48,667,247 (GRCm39)	missense	probably damaging	1.00
R7442:Treml1	UTSW	17	48,673,719 (GRCm39)	missense	probably damaging	1.00
R7825:Treml1	UTSW	17	48,673,784 (GRCm39)	missense	probably damaging	1.00
R8843:Treml1	UTSW	17	48,673,852 (GRCm39)	missense	probably damaging	1.00
R8997:Treml1	UTSW	17	48,667,466 (GRCm39)	missense	probably damaging	1.00
R9229:Treml1	UTSW	17	48,673,774 (GRCm39)	missense	probably benign
R9510:Treml1	UTSW	17	48,673,771 (GRCm39)	missense	probably damaging	0.96
R9619:Treml1	UTSW	17	48,672,006 (GRCm39)	missense	probably benign	0.12
RF058:Treml1	UTSW	17	48,666,975 (GRCm39)	nonsense	probably null

Posted On

2015-04-16