Incidental Mutation 'R1617:Galnt11'
ID174346
Institutional Source Beutler Lab
Gene Symbol Galnt11
Ensembl Gene ENSMUSG00000038072
Gene Namepolypeptide N-acetylgalactosaminyltransferase 11
SynonymsA430075I06Rik, E430002F06Rik
MMRRC Submission 039654-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #R1617 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location25221904-25265918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25258893 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 388 (S388T)
Ref Sequence ENSEMBL: ENSMUSP00000110602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045737] [ENSMUST00000114950] [ENSMUST00000114952]
Predicted Effect probably damaging
Transcript: ENSMUST00000045737
AA Change: S388T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036240
Gene: ENSMUSG00000038072
AA Change: S388T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 151 386 5.3e-9 PFAM
Pfam:Glycos_transf_2 154 337 3.7e-33 PFAM
Pfam:Glyco_transf_7C 315 383 2.1e-9 PFAM
RICIN 476 607 7.09e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114950
AA Change: S388T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110600
Gene: ENSMUSG00000038072
AA Change: S388T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 151 385 1.7e-10 PFAM
Pfam:Glycos_transf_2 154 337 4.8e-29 PFAM
Pfam:Glyco_transf_7C 314 383 3.5e-9 PFAM
RICIN 476 607 7.09e-23 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114952
AA Change: S388T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110602
Gene: ENSMUSG00000038072
AA Change: S388T

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 151 385 1.7e-10 PFAM
Pfam:Glycos_transf_2 154 337 4.8e-29 PFAM
Pfam:Glyco_transf_7C 314 383 3.5e-9 PFAM
RICIN 476 607 7.09e-23 SMART
Meta Mutation Damage Score 0.074 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,937 I91K probably damaging Het
Adamts16 T A 13: 70,798,035 M254L probably benign Het
Adgre5 T C 8: 83,730,177 I192V possibly damaging Het
Akr1c21 G A 13: 4,576,352 probably null Het
Amz2 A G 11: 109,434,024 T245A probably benign Het
Aqp7 A C 4: 41,036,109 M43R probably null Het
Arid3c G A 4: 41,725,103 P315S probably damaging Het
Birc2 A T 9: 7,826,951 Y345N possibly damaging Het
Blnk T C 19: 40,962,363 T115A probably benign Het
Col5a1 T C 2: 27,952,381 S423P unknown Het
Corin A T 5: 72,503,952 F66Y possibly damaging Het
Cpd A T 11: 76,846,669 W100R probably damaging Het
Cpsf1 A T 15: 76,602,370 Y296* probably null Het
Cyp2d34 T C 15: 82,620,845 T5A probably benign Het
Dhrs7c G T 11: 67,815,077 V219L possibly damaging Het
Dnah3 T C 7: 120,089,946 M82V probably benign Het
Dnah9 A G 11: 65,895,921 S3629P probably damaging Het
Fam160a2 A G 7: 105,385,062 L454P probably damaging Het
Fbrs T C 7: 127,487,711 L33P probably damaging Het
Glmp A G 3: 88,328,119 probably benign Het
Gm13178 T G 4: 144,715,391 T97P probably damaging Het
Gm13212 A T 4: 145,624,307 probably benign Het
Gm9268 A G 7: 43,024,079 E187G probably benign Het
Gm9894 A G 13: 67,772,726 noncoding transcript Het
Grik3 A G 4: 125,691,192 M618V probably benign Het
Hmcn1 T C 1: 150,745,027 D1144G probably damaging Het
Hnrnpa2b1 T C 6: 51,466,398 K161R possibly damaging Het
Kmt2c T C 5: 25,375,927 I523V probably benign Het
Lmln C T 16: 33,117,130 P622S probably damaging Het
Lmtk2 A G 5: 144,173,862 T467A probably damaging Het
Map1s T A 8: 70,913,451 N333K probably damaging Het
Mgat4d C A 8: 83,365,711 A242D probably damaging Het
Muc5b T A 7: 141,863,524 Y3402* probably null Het
Myo3b G T 2: 70,281,218 A922S probably benign Het
Nphs1 T C 7: 30,482,531 V1183A probably benign Het
Nup160 T A 2: 90,679,499 C31S probably benign Het
Olfr1061 A T 2: 86,413,691 Y120* probably null Het
Olfr48 T C 2: 89,844,254 T240A probably benign Het
Pcdhb5 T G 18: 37,321,402 Y278* probably null Het
Pkhd1 T A 1: 20,198,050 E3368V possibly damaging Het
Pla2g6 A G 15: 79,289,141 M676T probably benign Het
Plcb1 A T 2: 135,337,441 N590Y probably damaging Het
Prr12 G A 7: 45,049,594 probably benign Het
Psat1 A G 19: 15,924,302 probably null Het
Ptpn9 T G 9: 57,027,408 I152S possibly damaging Het
Ric8b T A 10: 84,947,611 F111Y probably damaging Het
Slc44a3 G A 3: 121,461,265 A568V probably benign Het
Smarcd3 T G 5: 24,595,194 R213S probably damaging Het
Snx13 T C 12: 35,086,896 Y119H probably damaging Het
Socs2 C A 10: 95,413,081 E57* probably null Het
Spred1 C T 2: 117,175,347 P197S probably benign Het
Srek1 G T 13: 103,743,604 P482Q unknown Het
Tapbp A G 17: 33,920,431 T134A probably benign Het
Tarbp1 T C 8: 126,444,268 I998V possibly damaging Het
Tbcel G T 9: 42,461,293 probably benign Het
Tec A G 5: 72,782,105 F189S probably damaging Het
Tmprss11g A T 5: 86,499,563 Y39N probably damaging Het
Tmtc1 A G 6: 148,355,404 probably benign Het
Trpa1 A G 1: 14,873,675 I1070T probably damaging Het
Trpm2 T A 10: 77,935,875 probably null Het
Ttc21b G T 2: 66,226,035 T669K probably benign Het
Ttll4 G A 1: 74,679,401 R137H probably benign Het
Ubqln3 G T 7: 104,142,860 L8I possibly damaging Het
Ung C A 5: 114,131,354 N42K probably benign Het
Upp1 T C 11: 9,134,865 S195P probably damaging Het
Urb1 T C 16: 90,760,452 E1762G possibly damaging Het
Utp11 T C 4: 124,686,111 K35E probably damaging Het
Vav3 A T 3: 109,510,978 K305I probably damaging Het
Vmn1r197 A G 13: 22,328,328 I140V possibly damaging Het
Zfc3h1 A G 10: 115,390,922 T295A probably benign Het
Zfp46 T C 4: 136,290,512 L219P probably damaging Het
Zfp493 G A 13: 67,783,880 V33M probably damaging Het
Zfp92 T C X: 73,419,860 probably benign Het
Other mutations in Galnt11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Galnt11 APN 5 25248831 splice site probably benign
IGL01553:Galnt11 APN 5 25247720 missense probably benign 0.13
IGL01748:Galnt11 APN 5 25247515 nonsense probably null
R0021:Galnt11 UTSW 5 25248857 missense probably damaging 1.00
R0021:Galnt11 UTSW 5 25248857 missense probably damaging 1.00
R0666:Galnt11 UTSW 5 25252147 missense possibly damaging 0.89
R0784:Galnt11 UTSW 5 25258909 missense probably damaging 1.00
R1136:Galnt11 UTSW 5 25258945 missense probably damaging 0.98
R1168:Galnt11 UTSW 5 25250246 missense probably damaging 1.00
R2033:Galnt11 UTSW 5 25247538 missense probably damaging 1.00
R2507:Galnt11 UTSW 5 25247612 missense probably damaging 1.00
R2508:Galnt11 UTSW 5 25247612 missense probably damaging 1.00
R4237:Galnt11 UTSW 5 25265260 missense probably benign 0.02
R4944:Galnt11 UTSW 5 25265338 missense probably damaging 1.00
R5653:Galnt11 UTSW 5 25248858 missense probably damaging 1.00
R5917:Galnt11 UTSW 5 25247672 intron probably null
R6489:Galnt11 UTSW 5 25264966 missense probably damaging 0.99
R6696:Galnt11 UTSW 5 25255114 missense probably benign
R6709:Galnt11 UTSW 5 25248853 missense probably damaging 1.00
R6881:Galnt11 UTSW 5 25250099 missense possibly damaging 0.69
R7034:Galnt11 UTSW 5 25258813 missense probably damaging 0.99
R7036:Galnt11 UTSW 5 25258813 missense probably damaging 0.99
X0038:Galnt11 UTSW 5 25257494 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTAAGCTGCATAGCCACCATTC -3'
(R):5'- TGAGCGATCAGTGAGGTCCAGAAC -3'

Sequencing Primer
(F):5'- CCATTCATAAAGGGTCAGTCATGAAG -3'
(R):5'- AGAACTGCTTCCGATGCTTG -3'
Posted On2014-04-24