Incidental Mutation 'R0027:Treml4'
ID 44543
Institutional Source Beutler Lab
Gene Symbol Treml4
Ensembl Gene ENSMUSG00000051682
Gene Name triggering receptor expressed on myeloid cells-like 4
Synonyms 5031403H21Rik
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 17
Chromosomal Location 48571323-48582388 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48571962 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,285,959 (GRCm39) I723F probably damaging Het
Anapc1 G T 2: 128,483,431 (GRCm39) D1221E possibly damaging Het
Arhgef28 T A 13: 98,082,204 (GRCm39) E1201V possibly damaging Het
Capn12 T A 7: 28,581,385 (GRCm39) H79Q probably benign Het
Caprin1 A T 2: 103,605,925 (GRCm39) probably benign Het
Carmil3 T A 14: 55,731,860 (GRCm39) F196Y probably damaging Het
Casp8ap2 A G 4: 32,643,810 (GRCm39) H961R probably benign Het
Cdkl3 C T 11: 51,923,176 (GRCm39) probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Col13a1 A G 10: 61,685,940 (GRCm39) L684P unknown Het
D430041D05Rik A T 2: 104,085,389 (GRCm39) F1053L probably benign Het
Dab1 T C 4: 104,561,396 (GRCm39) probably benign Het
Dmxl1 A T 18: 50,090,362 (GRCm39) probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eml1 T C 12: 108,502,557 (GRCm39) C708R possibly damaging Het
Fam131b T A 6: 42,295,182 (GRCm39) M304L probably benign Het
Foxk1 A T 5: 142,436,095 (GRCm39) I321F probably damaging Het
Gm10306 C T 4: 94,445,027 (GRCm39) probably benign Het
Gm10985 TA TANA 3: 53,752,677 (GRCm39) probably null Het
Gse1 T C 8: 121,293,285 (GRCm39) probably benign Het
Hcn3 A G 3: 89,067,132 (GRCm39) S79P probably damaging Het
Hspa4 T A 11: 53,174,412 (GRCm39) M203L probably benign Het
Ints15 G A 5: 143,293,817 (GRCm39) T220I probably damaging Het
Kctd7 G A 5: 130,181,414 (GRCm39) R279H probably damaging Het
Kif11 C T 19: 37,395,431 (GRCm39) probably benign Het
Klf13 T C 7: 63,541,509 (GRCm39) N206S probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lamc1 T C 1: 153,138,329 (GRCm39) Y175C probably damaging Het
Lrpprc G A 17: 85,074,435 (GRCm39) R491* probably null Het
Madd T A 2: 90,982,894 (GRCm39) I1350F probably damaging Het
Mbtd1 T C 11: 93,815,375 (GRCm39) V321A possibly damaging Het
Mon2 G A 10: 122,871,953 (GRCm39) S357L possibly damaging Het
Ndst3 A G 3: 123,465,162 (GRCm39) V270A probably damaging Het
Nlrp2 T C 7: 5,325,447 (GRCm39) T742A probably damaging Het
Nopchap1 G A 10: 83,200,393 (GRCm39) probably benign Het
Or6d14 T C 6: 116,533,910 (GRCm39) S175P probably damaging Het
Papola A C 12: 105,799,395 (GRCm39) S675R probably benign Het
Pcdh9 T A 14: 94,126,081 (GRCm39) I30F probably null Het
Prl6a1 T A 13: 27,502,011 (GRCm39) L126Q probably damaging Het
Prr29 A G 11: 106,267,102 (GRCm39) E89G possibly damaging Het
Psmd1 T C 1: 86,021,987 (GRCm39) probably benign Het
Rad9b A G 5: 122,489,786 (GRCm39) probably benign Het
Rest T C 5: 77,430,398 (GRCm39) V939A probably benign Het
Rnf135 T A 11: 80,084,768 (GRCm39) S180R probably benign Het
Sarm1 C A 11: 78,378,917 (GRCm39) R376L probably damaging Het
Scap C A 9: 110,208,798 (GRCm39) P613Q probably benign Het
Scube3 C T 17: 28,383,331 (GRCm39) R374* probably null Het
Setx T G 2: 29,029,233 (GRCm39) V167G probably damaging Het
Snrnp40 T A 4: 130,262,066 (GRCm39) H151Q probably damaging Het
Sox21 G T 14: 118,473,029 (GRCm39) H7N probably benign Het
Stard9 A T 2: 120,533,982 (GRCm39) Q3413L probably benign Het
Sycp1 A G 3: 102,803,226 (GRCm39) V528A probably benign Het
Tcl1b3 A T 12: 105,157,498 (GRCm39) S47C probably damaging Het
Trip11 C T 12: 101,851,428 (GRCm39) A879T probably benign Het
Ubr4 C A 4: 139,127,704 (GRCm39) N567K probably damaging Het
Zan T C 5: 137,404,781 (GRCm39) probably benign Het
Zfp804a G A 2: 82,087,544 (GRCm39) D458N probably damaging Het
Zic2 T C 14: 122,713,755 (GRCm39) M223T possibly damaging Het
Other mutations in Treml4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6510:Treml4 UTSW 17 48,581,472 (GRCm39) missense probably benign
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'- CGTGCAGTGCCAATACAAGCCTAAG -3'
(R):5'- TCAATGAGGAGCCAAGCATGACC -3'

Sequencing Primer
(F):5'- CCTAAGGAGGAGTCCTATGTGC -3'
(R):5'- GCCAAGCATGACCGAGATG -3'
Posted On 2013-06-11