Incidental Mutation 'R5531:Siglech'
ID 433696
Institutional Source Beutler Lab
Gene Symbol Siglech
Ensembl Gene ENSMUSG00000051504
Gene Name sialic acid binding Ig-like lectin H
Synonyms Siglec-H, 6430529G09Rik
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5531 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55417926-55428673 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55418413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 31 (K31*)
Ref Sequence ENSEMBL: ENSMUSP00000122697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060416] [ENSMUST00000094360] [ENSMUST00000121492] [ENSMUST00000154933] [ENSMUST00000165045] [ENSMUST00000171077] [ENSMUST00000173835] [ENSMUST00000172988]
AlphaFold B7ZMQ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000060416
AA Change: E127V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
AA Change: E127V

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 possibly damaging
Transcript: ENSMUST00000094360
AA Change: E127V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
AA Change: E127V

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 possibly damaging
Transcript: ENSMUST00000121492
AA Change: E127V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504
AA Change: E127V

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 null
Transcript: ENSMUST00000154933
AA Change: K31*
Predicted Effect probably damaging
Transcript: ENSMUST00000165045
AA Change: E127V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
AA Change: E127V

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 possibly damaging
Transcript: ENSMUST00000171077
AA Change: E127V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
AA Change: E127V

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 possibly damaging
Transcript: ENSMUST00000173835
AA Change: E127V

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504
AA Change: E127V

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: ENSMUST00000172988
SMART Domains Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncf4 T G 15: 78,144,988 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript Het
Other mutations in Siglech
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Siglech APN 7 55,422,339 (GRCm39) splice site probably benign
IGL00509:Siglech APN 7 55,418,635 (GRCm39) missense possibly damaging 0.47
R0619:Siglech UTSW 7 55,418,910 (GRCm39) missense probably benign 0.44
R1746:Siglech UTSW 7 55,418,252 (GRCm39) missense probably benign 0.03
R1818:Siglech UTSW 7 55,418,332 (GRCm39) missense probably damaging 1.00
R2125:Siglech UTSW 7 55,421,434 (GRCm39) missense probably benign 0.04
R4611:Siglech UTSW 7 55,421,441 (GRCm39) missense probably damaging 1.00
R4835:Siglech UTSW 7 55,418,177 (GRCm39) nonsense probably null
R5694:Siglech UTSW 7 55,418,404 (GRCm39) missense probably damaging 1.00
R5724:Siglech UTSW 7 55,418,293 (GRCm39) missense probably damaging 1.00
R6597:Siglech UTSW 7 55,418,211 (GRCm39) missense probably benign 0.01
R7881:Siglech UTSW 7 55,422,289 (GRCm39) missense probably benign 0.29
R8688:Siglech UTSW 7 55,418,362 (GRCm39) missense probably benign 0.06
R9056:Siglech UTSW 7 55,422,294 (GRCm39) missense probably benign 0.01
R9386:Siglech UTSW 7 55,422,312 (GRCm39) missense probably benign
Z1088:Siglech UTSW 7 55,418,742 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AGTACCCCATGAACAGGTGG -3'
(R):5'- AAGGACAGCTACTGAGAAGCCC -3'

Sequencing Primer
(F):5'- AACAGGTGGTCAGATGCTGCC -3'
(R):5'- GAGAAGCCCAGGTTTTGATTCAACTC -3'
Posted On 2016-10-06