Incidental Mutation 'IGL03289:Cd163l1'
ID415845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd163l1
Ensembl Gene ENSMUSG00000025461
Gene NameCD163 molecule-like 1
SynonymsE430002D04Rik, Scart1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03289
Quality Score
Status
Chromosome7
Chromosomal Location140218267-140231145 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 140229060 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084460] [ENSMUST00000209398] [ENSMUST00000209637]
Predicted Effect probably null
Transcript: ENSMUST00000084460
SMART Domains Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SR 32 132 1.45e-30 SMART
SR 139 230 4.28e-6 SMART
SR 235 333 2.76e-36 SMART
SR 335 435 1.32e-33 SMART
SR 441 541 5.01e-25 SMART
SR 546 646 7.16e-53 SMART
SR 651 752 3.44e-14 SMART
SR 780 880 8.96e-45 SMART
low complexity region 882 898 N/A INTRINSIC
transmembrane domain 907 929 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209376
Predicted Effect probably benign
Transcript: ENSMUST00000209398
Predicted Effect probably null
Transcript: ENSMUST00000209637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211540
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,877,968 probably benign Het
Akap9 A G 5: 4,077,261 Y3703C probably damaging Het
Ankk1 A G 9: 49,415,695 V728A probably benign Het
B3galt2 T C 1: 143,647,304 Y393H probably damaging Het
Clcn4 T A 7: 7,284,258 I664F probably damaging Het
Clec2e A T 6: 129,098,455 I41N probably damaging Het
Col2a1 A T 15: 97,980,881 N845K unknown Het
Cubn T G 2: 13,426,967 I1272L probably benign Het
Dnajc5 T C 2: 181,547,467 Y79H probably damaging Het
Eml6 G T 11: 29,795,328 A1006E possibly damaging Het
Igsf5 A T 16: 96,525,432 D271V possibly damaging Het
Kalrn G A 16: 34,385,297 A70V possibly damaging Het
Kcnn2 A T 18: 45,677,044 K309N probably damaging Het
Lrch4 T C 5: 137,633,577 S22P probably damaging Het
Mcpt2 A T 14: 56,044,337 I215F probably damaging Het
Mrc1 T C 2: 14,308,823 probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Olfr364-ps1 C T 2: 37,146,578 A122V probably damaging Het
Osbp2 A G 11: 3,863,380 V163A probably benign Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Senp1 G T 15: 98,085,045 H20Q probably damaging Het
Slc16a6 A G 11: 109,463,499 Y31H probably damaging Het
Thbs2 T A 17: 14,690,122 N72Y probably benign Het
Usp34 T A 11: 23,393,818 S1366T possibly damaging Het
Vmn1r216 T A 13: 23,100,012 D288E possibly damaging Het
Vmn2r11 T C 5: 109,048,922 probably benign Het
Vnn3 A T 10: 23,865,837 S347C possibly damaging Het
Yme1l1 T C 2: 23,160,268 V37A probably benign Het
Zfp597 A T 16: 3,865,922 D323E possibly damaging Het
Other mutations in Cd163l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Cd163l1 APN 7 140224639 critical splice donor site probably null
IGL01921:Cd163l1 APN 7 140228719 nonsense probably null
IGL02168:Cd163l1 APN 7 140223486 missense probably benign 0.02
IGL02306:Cd163l1 APN 7 140223356 missense probably damaging 1.00
IGL02323:Cd163l1 APN 7 140228659 missense probably benign 0.10
IGL02457:Cd163l1 APN 7 140220395 missense probably benign 0.07
IGL02543:Cd163l1 APN 7 140220578 missense probably benign 0.00
IGL02831:Cd163l1 APN 7 140228521 missense probably benign 0.14
lop UTSW 7 140224463 missense possibly damaging 0.91
R0357:Cd163l1 UTSW 7 140227895 missense probably damaging 1.00
R0513:Cd163l1 UTSW 7 140224960 nonsense probably null
R1023:Cd163l1 UTSW 7 140224463 missense possibly damaging 0.91
R1519:Cd163l1 UTSW 7 140228156 missense probably benign 0.07
R1711:Cd163l1 UTSW 7 140220609 missense probably damaging 1.00
R2327:Cd163l1 UTSW 7 140223977 missense possibly damaging 0.48
R4957:Cd163l1 UTSW 7 140228522 missense probably damaging 0.99
R5421:Cd163l1 UTSW 7 140223900 missense probably damaging 1.00
R5422:Cd163l1 UTSW 7 140224155 missense probably benign 0.03
R5851:Cd163l1 UTSW 7 140228027 missense possibly damaging 0.93
R5906:Cd163l1 UTSW 7 140228799 missense probably damaging 1.00
R5930:Cd163l1 UTSW 7 140230446 missense probably benign 0.32
R6376:Cd163l1 UTSW 7 140228729 missense probably damaging 1.00
R7380:Cd163l1 UTSW 7 140224877 missense possibly damaging 0.47
R7389:Cd163l1 UTSW 7 140228791 missense possibly damaging 0.95
R7466:Cd163l1 UTSW 7 140220706 critical splice donor site probably null
R7686:Cd163l1 UTSW 7 140222203 nonsense probably null
R7722:Cd163l1 UTSW 7 140222386 nonsense probably null
Z1176:Cd163l1 UTSW 7 140224857 missense probably benign 0.17
Posted On2016-08-02