Incidental Mutation 'R1746:Siglech'
ID193979
Institutional Source Beutler Lab
Gene Symbol Siglech
Ensembl Gene ENSMUSG00000051504
Gene Namesialic acid binding Ig-like lectin H
Synonyms6430529G09Rik, Siglec-H
MMRRC Submission 039778-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1746 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location55768178-55778925 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 55768504 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 73 (H73Q)
Ref Sequence ENSEMBL: ENSMUSP00000130632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060416] [ENSMUST00000094360] [ENSMUST00000121492] [ENSMUST00000154933] [ENSMUST00000165045] [ENSMUST00000171077] [ENSMUST00000172988] [ENSMUST00000173835]
Predicted Effect probably benign
Transcript: ENSMUST00000060416
AA Change: H73Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
AA Change: H73Q

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
AA Change: H73Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
AA Change: H73Q

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
AA Change: H73Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504
AA Change: H73Q

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
AA Change: H73Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
AA Change: H73Q

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
AA Change: H73Q

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
AA Change: H73Q

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 unknown
Transcript: ENSMUST00000172988
AA Change: M40K
SMART Domains Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504
AA Change: M40K

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173835
AA Change: H73Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504
AA Change: H73Q

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 38 141 1.28e-1 SMART
transmembrane domain 171 193 N/A INTRINSIC
Meta Mutation Damage Score 0.1308 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency 100% (62/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T A 13: 70,779,598 probably null Het
Agrp G T 8: 105,566,835 T106K probably damaging Het
Aknad1 A G 3: 108,751,783 T38A possibly damaging Het
Anpep C T 7: 79,838,256 E518K probably benign Het
Arhgap21 T C 2: 20,861,099 E902G probably damaging Het
Atg2b A G 12: 105,669,329 S227P possibly damaging Het
Atp2c2 C T 8: 119,734,443 probably benign Het
Atxn10 T C 15: 85,376,663 V203A probably damaging Het
Chd9 A C 8: 91,010,698 E1468D probably benign Het
Cntn5 T A 9: 9,831,572 D601V probably damaging Het
Col4a2 G A 8: 11,446,020 G1547D probably benign Het
Cul1 A G 6: 47,508,245 E270G probably damaging Het
Dclk2 C T 3: 86,805,639 R503Q possibly damaging Het
Dmgdh C A 13: 93,752,425 T857K probably benign Het
Ednra T G 8: 77,671,582 T279P probably benign Het
Erbin A G 13: 103,850,831 I407T probably damaging Het
Fggy A G 4: 95,926,728 Y440C probably damaging Het
Flrt2 A T 12: 95,780,792 N635Y possibly damaging Het
Fnbp1l A G 3: 122,556,491 I357T probably benign Het
Gulp1 A G 1: 44,754,353 H58R possibly damaging Het
Hid1 A T 11: 115,354,638 V446E probably damaging Het
Igfn1 A G 1: 135,969,823 S1002P possibly damaging Het
Klri1 A G 6: 129,698,155 probably null Het
Kmt2d A C 15: 98,864,378 L409R probably damaging Het
Ltn1 A C 16: 87,411,781 S810A possibly damaging Het
Mysm1 G A 4: 94,948,411 Q721* probably null Het
Nae1 A G 8: 104,527,385 V105A possibly damaging Het
Nagpa C T 16: 5,203,639 V83M probably damaging Het
Nrg2 G A 18: 36,021,922 T503M probably damaging Het
Nrxn3 A G 12: 89,255,019 M150V possibly damaging Het
Olfr472 C A 7: 107,902,886 H56Q probably benign Het
Olfr945 A G 9: 39,258,202 S157P probably damaging Het
Papola T A 12: 105,807,209 D162E probably benign Het
Plxnc1 T C 10: 94,844,179 probably null Het
Ppp1r16b T A 2: 158,746,665 probably null Het
Ptprq T A 10: 107,638,830 E1338V probably damaging Het
Puf60 G A 15: 76,070,784 H437Y probably benign Het
Qsox2 C T 2: 26,220,638 V189I probably benign Het
Rad51ap2 A T 12: 11,457,775 D566V probably benign Het
Rb1cc1 T A 1: 6,263,013 probably null Het
Rfpl4b C T 10: 38,821,053 C184Y possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Rundc3a GAGCC GAGCCAGCC 11: 102,400,913 probably null Het
Scara5 A C 14: 65,731,090 M271L probably benign Het
Sel1l2 A G 2: 140,285,237 L118P probably damaging Het
Sema6a T A 18: 47,306,349 probably benign Het
Sim1 A G 10: 50,984,109 D689G probably benign Het
Skp2 T C 15: 9,139,443 E55G possibly damaging Het
Slc1a1 T A 19: 28,894,469 V114E probably benign Het
Slc26a6 G A 9: 108,861,717 G614D probably benign Het
Sptbn2 C T 19: 4,745,964 Q1724* probably null Het
Tet3 T C 6: 83,368,068 T1796A probably damaging Het
Tmem117 A C 15: 94,931,833 D183A possibly damaging Het
Trmt44 A G 5: 35,564,059 S587P probably benign Het
Ttn G T 2: 76,788,822 probably benign Het
Tubgcp5 G A 7: 55,808,537 V399M probably benign Het
Txndc2 T A 17: 65,638,135 D349V probably damaging Het
Uggt2 T A 14: 119,013,503 N1194I probably benign Het
Vmn1r178 A T 7: 23,893,904 I53L probably benign Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Other mutations in Siglech
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Siglech APN 7 55772591 splice site probably benign
IGL00509:Siglech APN 7 55768887 missense possibly damaging 0.47
R0619:Siglech UTSW 7 55769162 missense probably benign 0.44
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
Z1088:Siglech UTSW 7 55768994 missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- TGTCTGACTGCTGGGCTTTCAC -3'
(R):5'- TGTCACATGCACAGAGATCCTTTCC -3'

Sequencing Primer
(F):5'- AGTTTGCTTACTCACAGGAGCC -3'
(R):5'- GAGATCCTTTCCTCACAGAAATTC -3'
Posted On2014-05-23