Incidental Mutation 'IGL02955:B4galnt4'
ID365067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B4galnt4
Ensembl Gene ENSMUSG00000055629
Gene Namebeta-1,4-N-acetyl-galactosaminyl transferase 4
SynonymsLOC381951
Accession Numbers

Genbank: NM_177897; MGI: 2652891

Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02955
Quality Score
Status
Chromosome7
Chromosomal Location141061104-141072400 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141064678 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 162 (K162R)
Ref Sequence ENSEMBL: ENSMUSP00000039758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048002]
Predicted Effect probably null
Transcript: ENSMUST00000048002
AA Change: K162R

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: K162R

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
low complexity region 68 83 N/A INTRINSIC
PA14 129 276 6.07e-7 SMART
low complexity region 412 421 N/A INTRINSIC
low complexity region 433 449 N/A INTRINSIC
low complexity region 461 481 N/A INTRINSIC
low complexity region 634 660 N/A INTRINSIC
Pfam:CHGN 691 1024 8.9e-31 PFAM
Pfam:Glyco_transf_7C 939 1017 1.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210203
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(2)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,419,165 H840L probably damaging Het
Anks1 A G 17: 28,054,317 D970G probably damaging Het
Bicd2 T C 13: 49,378,215 V311A probably benign Het
Ccdc162 A G 10: 41,561,127 L489P probably damaging Het
Cd55 G T 1: 130,449,482 T38K probably damaging Het
Cep250 C A 2: 155,975,756 A749E probably benign Het
Cntn3 G T 6: 102,278,301 T212N probably damaging Het
Cntnap5c T A 17: 57,892,102 probably benign Het
Dclre1c A G 2: 3,438,052 E83G probably damaging Het
Dok4 T C 8: 94,865,628 N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 T1151A probably benign Het
Fer G A 17: 63,991,717 probably null Het
Gif T C 19: 11,747,663 L6P possibly damaging Het
Hexb A G 13: 97,181,076 probably benign Het
Ints5 T C 19: 8,897,650 L991P probably damaging Het
Itga5 T C 15: 103,350,834 D722G possibly damaging Het
Jup A G 11: 100,376,739 I586T probably benign Het
Lig1 G A 7: 13,296,347 G417R probably damaging Het
Lig4 A G 8: 9,972,103 I559T possibly damaging Het
Mcm3ap A G 10: 76,507,466 I1731V probably benign Het
Mfsd13a T G 19: 46,367,753 V99G possibly damaging Het
Nelfcd A G 2: 174,422,598 H153R probably damaging Het
Nlrp1b A G 11: 71,169,811 Y724H possibly damaging Het
Npas3 C A 12: 53,501,265 N101K probably damaging Het
Nuf2 A G 1: 169,507,238 probably benign Het
Olfr1349 T C 7: 6,514,683 T249A probably damaging Het
Olfr368 A T 2: 37,332,001 M85L probably benign Het
Olfr740 C T 14: 50,453,985 T311I probably damaging Het
Polr3c A G 3: 96,714,312 Y423H probably damaging Het
Pomgnt2 A G 9: 121,982,890 L275P probably damaging Het
Ptprj T G 2: 90,468,464 probably null Het
Pxdn T C 12: 30,003,157 I931T probably damaging Het
Rad51b C T 12: 79,325,082 Q190* probably null Het
Rpl10a T C 17: 28,328,993 I36T probably damaging Het
Tagap1 T C 17: 6,956,382 H305R probably damaging Het
Tmem154 A G 3: 84,684,201 probably benign Het
Vil1 A G 1: 74,418,523 E105G probably benign Het
Wdfy4 C A 14: 33,076,284 C2055F probably damaging Het
Zfat T C 15: 68,181,114 N277S probably damaging Het
Other mutations in B4galnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:B4galnt4 APN 7 141070515 missense probably benign 0.15
IGL02055:B4galnt4 APN 7 141070818 missense probably damaging 1.00
IGL02248:B4galnt4 APN 7 141067808 unclassified probably benign
IGL03334:B4galnt4 APN 7 141067441 splice site probably null
H8786:B4galnt4 UTSW 7 141071322 missense probably damaging 0.99
R0520:B4galnt4 UTSW 7 141067373 nonsense probably null
R0735:B4galnt4 UTSW 7 141064323 missense probably benign 0.24
R1355:B4galnt4 UTSW 7 141065395 missense probably damaging 1.00
R1864:B4galnt4 UTSW 7 141070533 missense probably damaging 1.00
R1874:B4galnt4 UTSW 7 141070526 missense probably damaging 1.00
R1928:B4galnt4 UTSW 7 141068148 nonsense probably null
R1969:B4galnt4 UTSW 7 141064848 missense probably benign 0.01
R3429:B4galnt4 UTSW 7 141070839 missense probably damaging 1.00
R4239:B4galnt4 UTSW 7 141061326 missense probably damaging 1.00
R4382:B4galnt4 UTSW 7 141070536 missense probably damaging 0.99
R4517:B4galnt4 UTSW 7 141067722 missense probably damaging 1.00
R4748:B4galnt4 UTSW 7 141071720 missense probably damaging 1.00
R4827:B4galnt4 UTSW 7 141068479 missense probably benign 0.00
R4831:B4galnt4 UTSW 7 141067721 missense probably damaging 0.99
R4831:B4galnt4 UTSW 7 141064557 critical splice donor site probably null
R4898:B4galnt4 UTSW 7 141068260 missense probably benign 0.11
R5028:B4galnt4 UTSW 7 141068062 missense probably benign 0.40
R5249:B4galnt4 UTSW 7 141065070 missense probably damaging 1.00
R5267:B4galnt4 UTSW 7 141070611 missense probably damaging 0.99
R5728:B4galnt4 UTSW 7 141070575 missense probably benign 0.00
R5924:B4galnt4 UTSW 7 141070829 missense probably damaging 1.00
R6063:B4galnt4 UTSW 7 141064730 missense probably benign 0.08
R6311:B4galnt4 UTSW 7 141068659 missense probably damaging 1.00
R6376:B4galnt4 UTSW 7 141067422 missense possibly damaging 0.87
R6689:B4galnt4 UTSW 7 141067984 missense probably benign 0.25
R6954:B4galnt4 UTSW 7 141067232 missense probably benign 0.01
R6974:B4galnt4 UTSW 7 141067536 missense possibly damaging 0.95
R7041:B4galnt4 UTSW 7 141070680 missense probably damaging 1.00
R7092:B4galnt4 UTSW 7 141068636 missense probably damaging 1.00
R7359:B4galnt4 UTSW 7 141071284 missense probably damaging 1.00
R7367:B4galnt4 UTSW 7 141064475 missense probably damaging 1.00
R7409:B4galnt4 UTSW 7 141067003 splice site probably null
R7519:B4galnt4 UTSW 7 141064344 missense probably damaging 1.00
R7664:B4galnt4 UTSW 7 141067713 missense probably damaging 1.00
R7679:B4galnt4 UTSW 7 141067765 missense probably benign 0.28
R7782:B4galnt4 UTSW 7 141065075 missense probably damaging 1.00
R8103:B4galnt4 UTSW 7 141064651 missense possibly damaging 0.91
R8783:B4galnt4 UTSW 7 141063846 missense probably damaging 1.00
R8796:B4galnt4 UTSW 7 141067575 missense probably damaging 1.00
RF007:B4galnt4 UTSW 7 141070696 critical splice donor site probably null
YA93:B4galnt4 UTSW 7 141067411 missense possibly damaging 0.77
Posted On2015-12-18