Mutagenetix > Incidental Mutation

Incidental Mutation 'R4379:Treml1'

325269

Institutional Source

Beutler Lab

Gene Symbol

Treml1

Ensembl Gene

ENSMUSG00000023993

Gene Name

triggering receptor expressed on myeloid cells-like 1

Synonyms

TLT-1, 5430401J17Rik

MMRRC Submission

041677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48666944-48674204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48667424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 103 (Y103C)

Ref Sequence

ENSEMBL: ENSMUSP00000153104 (fasta)

Gene Model

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

AlphaFold

Q8K558

Predicted Effect

probably damaging
Transcript: ENSMUST00000024792
AA Change: Y103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993
AA Change: Y103C

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

probably damaging
Transcript: ENSMUST00000224001
AA Change: Y103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000225849
AA Change: Y103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9070

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (53/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	A	5: 8,915,875 (GRCm39)	H1252Q	probably benign	Het
Adcy3	T	C	12: 4,184,558 (GRCm39)	L78P	probably damaging	Het
Agmat	G	T	4: 141,484,802 (GRCm39)	A282S	probably benign	Het
Akap8	G	T	17: 32,525,534 (GRCm39)	T515K	probably damaging	Het
Akap8l	T	C	17: 32,540,488 (GRCm39)		probably benign	Het
Alpk1	C	T	3: 127,523,022 (GRCm39)	V7M	probably damaging	Het
AW209491	T	C	13: 14,812,412 (GRCm39)	*422Q	probably null	Het
Cdan1	A	G	2: 120,557,099 (GRCm39)	F576L	probably damaging	Het
Cers5	A	G	15: 99,649,134 (GRCm39)	F45L	probably damaging	Het
Dst	A	G	1: 34,267,056 (GRCm39)	I5011V	probably benign	Het
Dst	T	C	1: 34,202,316 (GRCm39)	S215P	probably damaging	Het
En1	A	G	1: 120,531,084 (GRCm39)	N108S	possibly damaging	Het
Entrep3	A	T	3: 89,093,064 (GRCm39)	D274V	probably damaging	Het
Fancd2	T	C	6: 113,538,677 (GRCm39)	S591P	probably benign	Het
Glt1d1	T	C	5: 127,771,346 (GRCm39)	V279A	possibly damaging	Het
Gm10051	C	T	5: 133,504,287 (GRCm39)		noncoding transcript	Het
Gpr158	G	T	2: 21,830,025 (GRCm39)	G690V	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Grm7	T	A	6: 111,223,335 (GRCm39)	N458K	probably benign	Het
Hibadh	G	A	6: 52,597,027 (GRCm39)	S139L	probably damaging	Het
Hivep1	C	T	13: 42,308,906 (GRCm39)	S382F	probably damaging	Het
Ift74	A	G	4: 94,568,171 (GRCm39)	N403D	probably benign	Het
Igkv4-81	A	G	6: 68,967,933 (GRCm39)	L56S	probably damaging	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lmbr1l	G	T	15: 98,807,144 (GRCm39)	C212*	probably null	Het
Lrp10	C	T	14: 54,705,823 (GRCm39)	R338C	probably damaging	Het
Lrrc34	A	G	3: 30,685,524 (GRCm39)	L275P	probably damaging	Het
Mgam2-ps	T	C	6: 40,810,793 (GRCm39)		noncoding transcript	Het
Mief1	T	G	15: 80,132,160 (GRCm39)	M77R	possibly damaging	Het
Neurod6	T	C	6: 55,656,257 (GRCm39)	T127A	probably damaging	Het
Nif3l1	A	C	1: 58,494,738 (GRCm39)		probably benign	Het
Nlrp12	T	A	7: 3,288,554 (GRCm39)	T653S	probably benign	Het
Nol7	G	T	13: 43,555,051 (GRCm39)	W228L	probably damaging	Het
Nrp1	G	A	8: 129,194,948 (GRCm39)	R468H	probably damaging	Het
Or5ac15	C	T	16: 58,940,027 (GRCm39)	M135I	probably benign	Het
Or7g34	A	G	9: 19,478,038 (GRCm39)	L211P	probably benign	Het
Pbrm1	A	T	14: 30,789,663 (GRCm39)	H785L	probably damaging	Het
Pus7	T	C	5: 23,953,864 (GRCm39)		probably benign	Het
Qser1	G	T	2: 104,596,404 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,095,800 (GRCm39)	V51A	probably damaging	Het
Setbp1	T	C	18: 79,129,896 (GRCm39)	N112S	probably damaging	Het
Svil	C	T	18: 5,046,909 (GRCm39)	H52Y	probably damaging	Het
Taf1d	T	A	9: 15,223,277 (GRCm39)		probably benign	Het
Tle1	ACAGGTTTCTTCAGGTTTCTT	ACAGGTTTCTT	4: 72,036,400 (GRCm39)		probably benign	Het
Trim28	A	T	7: 12,763,407 (GRCm39)	D516V	probably damaging	Het
Usp34	T	A	11: 23,334,499 (GRCm39)	N1164K	possibly damaging	Het
Vmn2r115	A	G	17: 23,564,197 (GRCm39)	Y123C	possibly damaging	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp28	C	T	7: 6,396,441 (GRCm39)	T292I	probably benign	Het
Zmynd8	A	T	2: 165,649,858 (GRCm39)		probably null	Het
Zscan4d	A	G	7: 10,898,905 (GRCm39)	V124A	probably benign	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
IGL02543:Treml1	APN	17	48,667,459 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTAGTGCAGTGCCACTACC -3'
(R):5'- AGTTCCGTTGCCACTCAGTC -3'

Sequencing Primer
(F):5'- TACCGGCTCCAGGATGTGAG -3'
(R):5'- TTGCCACTCAGTCCAGGAC -3'

Posted On

2015-07-06