Mutagenetix > Incidental Mutation

Incidental Mutation 'R8843:Treml1'

674571

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

068670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8843 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48666944-48674204 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48673852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 288 (T288A)

Ref Sequence

ENSEMBL: ENSMUSP00000024792 (fasta)

Gene Model

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

AlphaFold

Q8K558

Predicted Effect

probably damaging
Transcript: ENSMUST00000024792
AA Change: T288A

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

SMART Domains

Protein: ENSMUSP00000024792
Gene: ENSMUSG00000023993
AA Change: T288A

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

probably damaging
Transcript: ENSMUST00000224001
AA Change: T293A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225849

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	C	G	9: 21,440,331 (GRCm39)	Q106E	probably benign	Het
Abi2	A	G	1: 60,492,888 (GRCm39)	M387V	probably null	Het
Adra2c	A	T	5: 35,437,707 (GRCm39)	N160Y	probably damaging	Het
Ager	G	A	17: 34,819,716 (GRCm39)	R383H	probably benign	Het
Arhgef28	C	T	13: 98,130,557 (GRCm39)	R427H	probably benign	Het
Atl1	T	A	12: 69,972,922 (GRCm39)	S81T	probably damaging	Het
Ccdc80	T	A	16: 44,947,470 (GRCm39)		probably benign	Het
Cdh10	T	A	15: 19,013,487 (GRCm39)	F696I	possibly damaging	Het
Cdk2ap2	T	C	19: 4,147,429 (GRCm39)	S2P	unknown	Het
Cela1	G	A	15: 100,580,821 (GRCm39)	T145I	probably benign	Het
Celsr2	A	T	3: 108,303,443 (GRCm39)		probably benign	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,878,503 (GRCm39)	I218T	probably damaging	Het
Copb1	T	C	7: 113,820,935 (GRCm39)	I785V	possibly damaging	Het
Dnajc16	A	T	4: 141,492,002 (GRCm39)	V607E	possibly damaging	Het
Dnali1	A	T	4: 124,957,414 (GRCm39)	L110Q	probably damaging	Het
Epn1	A	G	7: 5,096,375 (GRCm39)	E223G	probably benign	Het
Erbb3	A	G	10: 128,414,325 (GRCm39)	L473P	possibly damaging	Het
Fhip1a	A	G	3: 85,568,318 (GRCm39)	I1067T	possibly damaging	Het
Gadl1	T	A	9: 115,835,569 (GRCm39)	D332E	probably benign	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Heg1	A	G	16: 33,570,863 (GRCm39)	S1188G	probably null	Het
Hipk3	G	A	2: 104,268,242 (GRCm39)	A575V	probably benign	Het
Htt	T	A	5: 35,046,809 (GRCm39)	I2375N	possibly damaging	Het
Klhl24	A	T	16: 19,938,980 (GRCm39)	K512*	probably null	Het
Krtdap	A	T	7: 30,488,952 (GRCm39)	Y40F	probably damaging	Het
Lhx1	A	T	11: 84,410,455 (GRCm39)	S381T	probably benign	Het
Lnpep	G	A	17: 17,773,203 (GRCm39)	P655L	probably damaging	Het
Map6d1	A	G	16: 20,055,386 (GRCm39)	V150A	probably benign	Het
Marchf10	A	G	11: 105,292,802 (GRCm39)	S202P	possibly damaging	Het
Med1	A	C	11: 98,080,102 (GRCm39)	L13R	possibly damaging	Het
Mxi1	G	A	19: 53,360,126 (GRCm39)	G283S	probably damaging	Het
Myh7	T	G	14: 55,212,752 (GRCm39)	D1431A	probably damaging	Het
Myo3b	G	T	2: 70,088,325 (GRCm39)	G863W	probably damaging	Het
Nat8f1	G	T	6: 85,887,907 (GRCm39)	Q18K	probably benign	Het
Ncaph	A	G	2: 126,950,529 (GRCm39)	V576A	probably benign	Het
Nfkbia	T	G	12: 55,539,196 (GRCm39)	D39A	possibly damaging	Het
Nrxn2	G	T	19: 6,555,057 (GRCm39)	G1179C	probably damaging	Het
Or12k8	A	C	2: 36,975,307 (GRCm39)	V151G	probably damaging	Het
P4ha1	A	G	10: 59,205,455 (GRCm39)	D495G	probably damaging	Het
Phf20	C	T	2: 156,144,843 (GRCm39)	A817V	probably benign	Het
Phlpp2	A	T	8: 110,652,431 (GRCm39)	I592F	probably benign	Het
Polq	A	G	16: 36,832,280 (GRCm39)	S7G	unknown	Het
Ppfia3	G	T	7: 44,997,941 (GRCm39)	Q729K	probably benign	Het
Prmt8	A	C	6: 127,706,462 (GRCm39)	F110V	probably damaging	Het
Psca	A	T	15: 74,587,868 (GRCm39)		probably null	Het
Pus7	G	T	5: 23,980,754 (GRCm39)	D165E	probably benign	Het
Raver2	A	G	4: 100,994,942 (GRCm39)	E555G	probably damaging	Het
Rb1cc1	G	A	1: 6,315,395 (GRCm39)	V457M	probably damaging	Het
Rbp3	A	G	14: 33,676,522 (GRCm39)	R157G	probably benign	Het
Rin3	T	G	12: 102,335,857 (GRCm39)	H589Q	probably benign	Het
Scart2	A	C	7: 139,828,913 (GRCm39)	T191P	possibly damaging	Het
Sgk2	T	A	2: 162,854,890 (GRCm39)	S334T	probably damaging	Het
Sh2d4b	T	C	14: 40,614,832 (GRCm39)	M31V	probably benign	Het
Slc23a3	G	A	1: 75,106,271 (GRCm39)	T316I	probably damaging	Het
Slc5a4b	C	A	10: 75,910,925 (GRCm39)	G304C	probably damaging	Het
Slc7a14	A	G	3: 31,311,759 (GRCm39)	V87A	probably damaging	Het
Slitrk3	A	T	3: 72,956,164 (GRCm39)	N869K	probably benign	Het
St8sia6	T	C	2: 13,661,896 (GRCm39)	R312G	possibly damaging	Het
Strip2	A	T	6: 29,923,968 (GRCm39)	E94V	probably benign	Het
Sycp2	T	C	2: 177,990,052 (GRCm39)	D1398G	probably damaging	Het
Syne1	C	A	10: 5,143,040 (GRCm39)	V114F	possibly damaging	Het
Syne1	T	C	10: 5,280,204 (GRCm39)	K1630E	probably benign	Het
Sytl2	A	G	7: 90,025,334 (GRCm39)	N441D	probably benign	Het
Thsd7a	A	G	6: 12,501,136 (GRCm39)	C424R		Het
Tln2	T	C	9: 67,302,827 (GRCm39)	D48G	probably damaging	Het
Ttn	T	C	2: 76,596,113 (GRCm39)	I20267V	probably benign	Het
Ttn	A	T	2: 76,679,259 (GRCm39)	V10821D	unknown	Het
Vmn2r111	A	C	17: 22,767,011 (GRCm39)	S829A	probably benign	Het
Xcl1	T	A	1: 164,763,079 (GRCm39)		probably benign	Het
Zdhhc23	A	T	16: 43,794,227 (GRCm39)	V149E	probably damaging	Het
Zfp273	A	T	13: 67,970,387 (GRCm39)	I12F	possibly damaging	Het
Zfp874a	A	T	13: 67,590,764 (GRCm39)	C307S	probably damaging	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
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
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'- TAGCAGTGACTCGGGACTAC -3'
(R):5'- GATACCAGATTGGAGCCCTGAG -3'

Sequencing Primer
(F):5'- ACCCTCGGACATTCCACATGTG -3'
(R):5'- CTGACATACTCTGGGCATAAAAGGC -3'

Posted On

2021-07-15