Incidental Mutation 'R6551:Lyar'
ID 521606
Institutional Source Beutler Lab
Gene Symbol Lyar
Ensembl Gene ENSMUSG00000067367
Gene Name Ly1 antibody reactive clone
Synonyms
MMRRC Submission 044676-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # R6551 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 38377815-38391650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38390616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 326 (A326D)
Ref Sequence ENSEMBL: ENSMUSP00000109741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087514] [ENSMUST00000114106] [ENSMUST00000130721] [ENSMUST00000132190] [ENSMUST00000146401] [ENSMUST00000154975] [ENSMUST00000202506]
AlphaFold Q08288
Predicted Effect probably damaging
Transcript: ENSMUST00000087514
AA Change: A326D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084791
Gene: ENSMUSG00000067367
AA Change: A326D

DomainStartEndE-ValueType
Pfam:zf-LYAR 31 58 1.7e-18 PFAM
low complexity region 138 152 N/A INTRINSIC
coiled coil region 174 216 N/A INTRINSIC
low complexity region 225 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114106
AA Change: A326D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109741
Gene: ENSMUSG00000067367
AA Change: A326D

DomainStartEndE-ValueType
Pfam:zf-LYAR 31 58 4.3e-18 PFAM
low complexity region 138 152 N/A INTRINSIC
coiled coil region 174 216 N/A INTRINSIC
low complexity region 225 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130721
SMART Domains Protein: ENSMUSP00000122153
Gene: ENSMUSG00000067367

DomainStartEndE-ValueType
Pfam:zf-LYAR 31 58 2.4e-17 PFAM
low complexity region 138 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132190
SMART Domains Protein: ENSMUSP00000121320
Gene: ENSMUSG00000067367

DomainStartEndE-ValueType
Pfam:zf-LYAR 31 58 2.4e-17 PFAM
low complexity region 138 152 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146401
Predicted Effect probably benign
Transcript: ENSMUST00000154975
Predicted Effect probably benign
Transcript: ENSMUST00000202506
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A T 1: 192,856,831 (GRCm39) Q61L probably damaging Het
Acss2 T C 2: 155,393,128 (GRCm39) S285P probably benign Het
Ager A G 17: 34,818,442 (GRCm39) probably null Het
Alkbh7 T A 17: 57,305,945 (GRCm39) Y115* probably null Het
Brwd1 T C 16: 95,795,162 (GRCm39) D2184G possibly damaging Het
Chp1 T A 2: 119,402,294 (GRCm39) H89Q possibly damaging Het
Clmp T C 9: 40,682,573 (GRCm39) V119A probably benign Het
Cryge A T 1: 65,087,796 (GRCm39) M171K probably benign Het
Cttnbp2nl A T 3: 104,912,433 (GRCm39) S484T possibly damaging Het
Dsg3 C A 18: 20,672,968 (GRCm39) P880T unknown Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Espn T C 4: 152,213,223 (GRCm39) Het
Fbxo31 A C 8: 122,291,443 (GRCm39) probably benign Het
Grin2b A G 6: 135,710,342 (GRCm39) V1068A probably damaging Het
Jak1 C A 4: 101,051,040 (GRCm39) probably benign Het
Klra10 A T 6: 130,252,718 (GRCm39) D185E probably benign Het
Lhx1 A C 11: 84,412,739 (GRCm39) D60E probably benign Het
Muc16 A C 9: 18,473,858 (GRCm39) S1280A possibly damaging Het
Nol9 G A 4: 152,136,325 (GRCm39) V466I possibly damaging Het
Or10d1 C A 9: 39,483,856 (GRCm39) R233L probably benign Het
Or12e8 T C 2: 87,677,005 (GRCm39) V130A possibly damaging Het
Or1e17 T C 11: 73,831,129 (GRCm39) I19T probably benign Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2w3b A T 11: 58,623,583 (GRCm39) M136K probably damaging Het
Or2y10 G T 11: 49,454,816 (GRCm39) V23L probably benign Het
Pik3c2a A T 7: 116,016,731 (GRCm39) I342N probably damaging Het
Pnldc1 A G 17: 13,124,456 (GRCm39) M133T probably damaging Het
Rab11fip1 G A 8: 27,646,512 (GRCm39) S188L probably damaging Het
Rapgef2 A T 3: 79,122,342 (GRCm39) probably null Het
Rnf103 G A 6: 71,487,349 (GRCm39) C660Y probably damaging Het
Rph3al G A 11: 75,797,372 (GRCm39) S108F possibly damaging Het
Srsf7 A C 17: 80,511,648 (GRCm39) probably benign Het
Ssrp1 A G 2: 84,871,450 (GRCm39) probably null Het
Tamm41 T C 6: 114,989,142 (GRCm39) D284G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem39b A G 4: 129,585,896 (GRCm39) V25A probably benign Het
Tmem88b G T 4: 155,870,149 (GRCm39) probably benign Het
Unk T C 11: 115,941,550 (GRCm39) W266R probably damaging Het
Usp8 T A 2: 126,575,102 (GRCm39) probably benign Het
Zbtb48 T G 4: 152,106,678 (GRCm39) Q142P probably benign Het
Zdhhc18 T C 4: 133,340,960 (GRCm39) T267A probably benign Het
Zfp335 G A 2: 164,751,285 (GRCm39) P94S probably benign Het
Other mutations in Lyar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Lyar APN 5 38,385,391 (GRCm39) splice site probably null
IGL01472:Lyar APN 5 38,382,066 (GRCm39) missense possibly damaging 0.72
IGL02603:Lyar APN 5 38,391,405 (GRCm39) missense probably damaging 0.99
veerie UTSW 5 38,385,202 (GRCm39) missense probably benign 0.05
R1980:Lyar UTSW 5 38,382,053 (GRCm39) missense probably damaging 1.00
R2518:Lyar UTSW 5 38,385,276 (GRCm39) missense probably benign 0.23
R4612:Lyar UTSW 5 38,382,053 (GRCm39) missense possibly damaging 0.92
R4798:Lyar UTSW 5 38,385,230 (GRCm39) missense possibly damaging 0.93
R4799:Lyar UTSW 5 38,382,123 (GRCm39) missense probably damaging 1.00
R5973:Lyar UTSW 5 38,385,290 (GRCm39) missense probably damaging 1.00
R5991:Lyar UTSW 5 38,385,209 (GRCm39) missense probably damaging 0.98
R6045:Lyar UTSW 5 38,391,352 (GRCm39) missense probably benign 0.21
R6284:Lyar UTSW 5 38,383,339 (GRCm39) missense probably damaging 1.00
R6548:Lyar UTSW 5 38,385,202 (GRCm39) missense probably benign 0.05
R7051:Lyar UTSW 5 38,382,024 (GRCm39) missense probably damaging 1.00
R7664:Lyar UTSW 5 38,388,161 (GRCm39) missense probably benign 0.02
R7909:Lyar UTSW 5 38,382,072 (GRCm39) missense probably damaging 1.00
R7938:Lyar UTSW 5 38,388,295 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCTCCTGTTACTGGGCTAG -3'
(R):5'- TCAGGTCCAAAGTCAGAAAGCC -3'

Sequencing Primer
(F):5'- CTCCTGTTACTGGGCTAGGGAAG -3'
(R):5'- TCCGAGTTGCACGTCCCTAAG -3'
Posted On 2018-06-06