Incidental Mutation 'IGL00162:Siglech'
ID306583
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Siglech
Ensembl Gene ENSMUSG00000051504
Gene Namesialic acid binding Ig-like lectin H
Synonyms6430529G09Rik, Siglec-H
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00162
Quality Score
Status
Chromosome7
Chromosomal Location55768178-55778925 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 55772591 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060416] [ENSMUST00000094360] [ENSMUST00000121492] [ENSMUST00000154933] [ENSMUST00000165045] [ENSMUST00000171077] [ENSMUST00000172988] [ENSMUST00000173835]
Predicted Effect probably benign
Transcript: ENSMUST00000060416
SMART Domains Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
IG_like 154 238 5.13e0 SMART
transmembrane domain 264 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094360
SMART Domains Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
IG_like 154 238 5.13e0 SMART
transmembrane domain 248 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121492
SMART Domains Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154933
Predicted Effect probably benign
Transcript: ENSMUST00000165045
SMART Domains Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
IG_like 154 238 5.13e0 SMART
transmembrane domain 263 285 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171077
SMART Domains Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
IG_like 154 238 5.13e0 SMART
transmembrane domain 264 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172988
SMART Domains Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173835
SMART Domains Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
transmembrane domain 171 193 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, increased BUN, vacuolated renal tubules, testicular atrophy and poor maturation of seminiferous tubules. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C330021F23Rik A G 8: 3,583,904 T2A probably benign Het
Cc2d1b T G 4: 108,627,378 L470R probably damaging Het
Cd96 A T 16: 46,071,799 N275K possibly damaging Het
Col22a1 A G 15: 71,860,958 probably null Het
Cyb561 T C 11: 105,935,836 H197R probably damaging Het
Dlgap1 T C 17: 70,516,085 S22P probably benign Het
Dnajc6 A G 4: 101,508,089 probably benign Het
Fgf6 A T 6: 127,024,085 K185N possibly damaging Het
Fshr T C 17: 88,986,191 N353S probably damaging Het
Gabbr1 T A 17: 37,048,443 Y103* probably null Het
Gm7247 G A 14: 51,523,505 C177Y possibly damaging Het
Hikeshi A G 7: 89,935,781 F72L probably damaging Het
Ikzf4 T C 10: 128,634,547 E368G probably benign Het
Kdm3b A G 18: 34,809,409 E851G probably benign Het
Kif3b A G 2: 153,317,131 D284G probably damaging Het
Kyat3 G A 3: 142,734,474 A320T probably benign Het
Mok C T 12: 110,808,197 probably benign Het
Mrgpra3 A G 7: 47,589,519 F220L probably benign Het
Nr4a1 T C 15: 101,270,899 V272A probably damaging Het
Olfr1124 A G 2: 87,435,063 H192R probably benign Het
Olfr703 A G 7: 106,845,367 Y252C possibly damaging Het
Pikfyve T A 1: 65,260,121 probably null Het
Plekhn1 T G 4: 156,223,363 T369P probably damaging Het
Ptpn12 T C 5: 21,029,850 E45G probably damaging Het
Ralgps1 A T 2: 33,137,682 *516R probably null Het
Senp6 A G 9: 80,116,610 D385G probably damaging Het
Slit1 A G 19: 41,650,835 L212P probably damaging Het
Smchd1 T A 17: 71,465,673 probably benign Het
Snapc4 A T 2: 26,369,312 C609S probably benign Het
Strn3 T C 12: 51,661,196 T139A possibly damaging Het
Tcaf3 T C 6: 42,593,385 T478A probably benign Het
Tlr3 A G 8: 45,400,690 S198P probably damaging Het
Ttn C T 2: 76,890,479 probably benign Het
Vil1 G A 1: 74,423,875 E406K probably damaging Het
Zfp462 A G 4: 55,011,483 probably null Het
Zfyve9 A G 4: 108,642,107 V1338A possibly damaging Het
Other mutations in Siglech
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Siglech APN 7 55768887 missense possibly damaging 0.47
R0619:Siglech UTSW 7 55769162 missense probably benign 0.44
R1746:Siglech UTSW 7 55768504 missense probably benign 0.03
R1818:Siglech UTSW 7 55768584 missense probably damaging 1.00
R2125:Siglech UTSW 7 55771686 missense probably benign 0.04
R4611:Siglech UTSW 7 55771693 missense probably damaging 1.00
R4835:Siglech UTSW 7 55768429 nonsense probably null
R5531:Siglech UTSW 7 55768665 nonsense probably null
R5694:Siglech UTSW 7 55768656 missense probably damaging 1.00
R5724:Siglech UTSW 7 55768545 missense probably damaging 1.00
R6597:Siglech UTSW 7 55768463 missense probably benign 0.01
R7881:Siglech UTSW 7 55772541 missense probably benign 0.29
R8688:Siglech UTSW 7 55768614 missense not run
Z1088:Siglech UTSW 7 55768994 missense possibly damaging 0.50
Posted On2015-04-16