Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Treml4'

44543

Institutional Source

Beutler Lab

Gene Symbol

Treml4

Ensembl Gene

ENSMUSG00000051682

Gene Name

triggering receptor expressed on myeloid cells-like 4

Synonyms

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

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

Stock #

R0027 (G1) of strain 730

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

48264295-48275360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48264934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 122 (S122P)

Ref Sequence

ENSEMBL: ENSMUSP00000120550 (fasta)

Gene Model

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

AlphaFold

Q3LRV9

Predicted Effect

probably benign
Transcript: ENSMUST00000059873
AA Change: S122P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054121
Gene: ENSMUSG00000051682
AA Change: S122P

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: S118P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000119177
Gene: ENSMUSG00000051682
AA Change: S118P

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

possibly damaging
Transcript: ENSMUST00000136272
AA Change: S122P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120550
Gene: ENSMUSG00000051682
AA Change: S122P

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

possibly damaging
Transcript: ENSMUST00000153420
AA Change: S122P

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115290
Gene: ENSMUSG00000051682
AA Change: S122P

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: S122P

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118772
Gene: ENSMUSG00000051682
AA Change: S122P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,873	I723F	probably damaging	Het
Anapc1	G	T	2: 128,641,511	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 97,945,696	E1201V	possibly damaging	Het
Capn12	T	A	7: 28,881,960	H79Q	probably benign	Het
Caprin1	A	T	2: 103,775,580		probably benign	Het
Carmil3	T	A	14: 55,494,403	F196Y	probably damaging	Het
Casp8ap2	A	G	4: 32,643,810	H961R	probably benign	Het
Cdkl3	C	T	11: 52,032,349		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Col13a1	A	G	10: 61,850,161	L684P	unknown	Het
D10Wsu102e	G	A	10: 83,364,529		probably benign	Het
D430041D05Rik	A	T	2: 104,255,044	F1053L	probably benign	Het
Dab1	T	C	4: 104,704,199		probably benign	Het
Dmxl1	A	T	18: 49,957,295		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
E130309D02Rik	G	A	5: 143,308,062	T220I	probably damaging	Het
Eml1	T	C	12: 108,536,298	C708R	possibly damaging	Het
Fam131b	T	A	6: 42,318,248	M304L	probably benign	Het
Foxk1	A	T	5: 142,450,340	I321F	probably damaging	Het
Gm10306	C	T	4: 94,556,790		probably benign	Het
Gm10985	TA	TANA	3: 53,845,256		probably null	Het
Gse1	T	C	8: 120,566,546		probably benign	Het
Hcn3	A	G	3: 89,159,825	S79P	probably damaging	Het
Hspa4	T	A	11: 53,283,585	M203L	probably benign	Het
Kctd7	G	A	5: 130,152,573	R279H	probably damaging	Het
Kif11	C	T	19: 37,406,983		probably benign	Het
Klf13	T	C	7: 63,891,761	N206S	probably benign	Het
Kpna7	A	T	5: 144,989,697	Y482N	probably damaging	Het
Lamc1	T	C	1: 153,262,583	Y175C	probably damaging	Het
Lrpprc	G	A	17: 84,767,007	R491*	probably null	Het
Madd	T	A	2: 91,152,549	I1350F	probably damaging	Het
Mbtd1	T	C	11: 93,924,549	V321A	possibly damaging	Het
Mon2	G	A	10: 123,036,048	S357L	possibly damaging	Het
Ndst3	A	G	3: 123,671,513	V270A	probably damaging	Het
Nlrp2	T	C	7: 5,322,448	T742A	probably damaging	Het
Olfr214	T	C	6: 116,556,949	S175P	probably damaging	Het
Papola	A	C	12: 105,833,136	S675R	probably benign	Het
Pcdh9	T	A	14: 93,888,645	I30F	probably null	Het
Prl6a1	T	A	13: 27,318,028	L126Q	probably damaging	Het
Prr29	A	G	11: 106,376,276	E89G	possibly damaging	Het
Psmd1	T	C	1: 86,094,265		probably benign	Het
Rad9b	A	G	5: 122,351,723		probably benign	Het
Rest	T	C	5: 77,282,551	V939A	probably benign	Het
Rnf135	T	A	11: 80,193,942	S180R	probably benign	Het
Sarm1	C	A	11: 78,488,091	R376L	probably damaging	Het
Scap	C	A	9: 110,379,730	P613Q	probably benign	Het
Scube3	C	T	17: 28,164,357	R374*	probably null	Het
Setx	T	G	2: 29,139,221	V167G	probably damaging	Het
Snrnp40	T	A	4: 130,368,273	H151Q	probably damaging	Het
Sox21	G	T	14: 118,235,617	H7N	probably benign	Het
Stard9	A	T	2: 120,703,501	Q3413L	probably benign	Het
Sycp1	A	G	3: 102,895,910	V528A	probably benign	Het
Tcl1b3	A	T	12: 105,191,239	S47C	probably damaging	Het
Trip11	C	T	12: 101,885,169	A879T	probably benign	Het
Ubr4	C	A	4: 139,400,393	N567K	probably damaging	Het
Zan	T	C	5: 137,406,519		probably benign	Het
Zfp804a	G	A	2: 82,257,200	D458N	probably damaging	Het
Zic2	T	C	14: 122,476,343	M223T	possibly damaging	Het

Other mutations in Treml4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Treml4	APN	17	48264849	missense	possibly damaging	0.82
IGL01451:Treml4	APN	17	48264995	splice site	probably benign
IGL01787:Treml4	APN	17	48264704	missense	probably damaging	1.00
R1975:Treml4	UTSW	17	48272793	missense	probably damaging	1.00
R4013:Treml4	UTSW	17	48264809	missense	probably benign	0.09
R4327:Treml4	UTSW	17	48274389	missense	probably damaging	0.98
R5586:Treml4	UTSW	17	48264899	missense	probably damaging	1.00
R6220:Treml4	UTSW	17	48264848	missense	possibly damaging	0.91
R6510:Treml4	UTSW	17	48274444	missense	probably benign
R6964:Treml4	UTSW	17	48272819	critical splice donor site	probably null
R8136:Treml4	UTSW	17	48264717	nonsense	probably null
R8289:Treml4	UTSW	17	48274428	missense	probably benign	0.23
R9070:Treml4	UTSW	17	48269753	missense	probably damaging	1.00
R9574:Treml4	UTSW	17	48264644	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGCAGTGCCAATACAAGCCTAAG -3'
(R):5'- TCAATGAGGAGCCAAGCATGACC -3'

Sequencing Primer
(F):5'- CCTAAGGAGGAGTCCTATGTGC -3'
(R):5'- GCCAAGCATGACCGAGATG -3'

Posted On

2013-06-11