Mutagenetix > Incidental Mutation

Incidental Mutation 'R6510:Treml4'

519896

Institutional Source

Beutler Lab

Gene Symbol

Treml4

Ensembl Gene

ENSMUSG00000051682

Gene Name

triggering receptor expressed on myeloid cells-like 4

Synonyms

5031403H21Rik

MMRRC Submission

044423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6510 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48571323-48582388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48581472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 249 (D249G)

Ref Sequence

ENSEMBL: ENSMUSP00000118772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059873] [ENSMUST00000125426] [ENSMUST00000136272] [ENSMUST00000153420] [ENSMUST00000154335]

AlphaFold

Q3LRV9

Predicted Effect

probably benign
Transcript: ENSMUST00000059873
AA Change: D248G

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

SMART Domains

Protein: ENSMUSP00000054121
Gene: ENSMUSG00000051682
AA Change: D248G

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
IG	32	137	6.51e-3	SMART
transmembrane domain	200	222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125426
AA Change: D244G

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

SMART Domains

Protein: ENSMUSP00000119177
Gene: ENSMUSG00000051682
AA Change: D244G

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
IG	28	133	6.51e-3	SMART
transmembrane domain	196	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136272
AA Change: D240G

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

SMART Domains

Protein: ENSMUSP00000120550
Gene: ENSMUSG00000051682
AA Change: D240G

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
IG	32	137	6.51e-3	SMART
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153131

Predicted Effect

unknown
Transcript: ENSMUST00000153420
AA Change: T205A

SMART Domains

Protein: ENSMUSP00000115290
Gene: ENSMUSG00000051682
AA Change: T205A

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
IG	32	137	6.51e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154335
AA Change: D249G

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

SMART Domains

Protein: ENSMUSP00000118772
Gene: ENSMUSG00000051682
AA Change: D249G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	32	137	6.51e-3	SMART
transmembrane domain	201	223	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any significant alterations in the uptake and cross-presentation of dying cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,770,645 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,707,609 (GRCm39)	T1266A	possibly damaging	Het
Arhgef17	T	C	7: 100,527,743 (GRCm39)	N1758S	probably damaging	Het
C130073F10Rik	T	A	4: 101,747,482 (GRCm39)	E182D	probably benign	Het
Ears2	T	C	7: 121,662,217 (GRCm39)	D77G	probably damaging	Het
Ephb3	A	G	16: 21,036,861 (GRCm39)	D108G	probably damaging	Het
Foxp4	A	G	17: 48,186,335 (GRCm39)	F452S	unknown	Het
Gas2	T	C	7: 51,593,460 (GRCm39)	L180P	probably damaging	Het
Gm28168	T	C	1: 117,875,685 (GRCm39)	Y105H	probably damaging	Het
Ifi205	T	A	1: 173,845,131 (GRCm39)	D217V	probably damaging	Het
Igsf9	C	G	1: 172,317,864 (GRCm39)	Q74E	possibly damaging	Het
Itga2	A	T	13: 115,009,816 (GRCm39)	F380I	probably damaging	Het
Kremen2	A	G	17: 23,962,629 (GRCm39)	V128A	possibly damaging	Het
Mmp20	T	A	9: 7,643,967 (GRCm39)	N218K	probably damaging	Het
Msh3	T	A	13: 92,489,772 (GRCm39)	K73*	probably null	Het
Or4c103	C	T	2: 88,513,302 (GRCm39)	R258H	probably benign	Het
Pate2	T	A	9: 35,581,018 (GRCm39)	C11S	probably null	Het
Prkag2	G	T	5: 25,305,286 (GRCm39)		probably benign	Het
Serpini2	T	C	3: 75,159,875 (GRCm39)	D297G	probably damaging	Het
Sgca	A	T	11: 94,854,058 (GRCm39)	L137Q	probably benign	Het
Vmn1r226	T	C	17: 20,908,115 (GRCm39)	C116R	probably benign	Het

Other mutations in Treml4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Treml4	APN	17	48,571,877 (GRCm39)	missense	possibly damaging	0.82
IGL01451:Treml4	APN	17	48,572,023 (GRCm39)	splice site	probably benign
IGL01787:Treml4	APN	17	48,571,732 (GRCm39)	missense	probably damaging	1.00
R0027:Treml4	UTSW	17	48,571,962 (GRCm39)	missense	possibly damaging	0.82
R1975:Treml4	UTSW	17	48,579,821 (GRCm39)	missense	probably damaging	1.00
R4013:Treml4	UTSW	17	48,571,837 (GRCm39)	missense	probably benign	0.09
R4327:Treml4	UTSW	17	48,581,417 (GRCm39)	missense	probably damaging	0.98
R5586:Treml4	UTSW	17	48,571,927 (GRCm39)	missense	probably damaging	1.00
R6220:Treml4	UTSW	17	48,571,876 (GRCm39)	missense	possibly damaging	0.91
R6964:Treml4	UTSW	17	48,579,847 (GRCm39)	critical splice donor site	probably null
R8136:Treml4	UTSW	17	48,571,745 (GRCm39)	nonsense	probably null
R8289:Treml4	UTSW	17	48,581,456 (GRCm39)	missense	probably benign	0.23
R9070:Treml4	UTSW	17	48,576,781 (GRCm39)	missense	probably damaging	1.00
R9574:Treml4	UTSW	17	48,571,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGTTGGAAATCTCTCTACCAG -3'
(R):5'- ATACAGCTCTGAGGGTGCTC -3'

Sequencing Primer
(F):5'- TAAATAAAAAGCAGAAGGTACCTGAG -3'
(R):5'- CGATACTGGAGTGTCAATTAGCCC -3'

Posted On

2018-06-06