Incidental Mutation 'R5249:B4galnt4'
ID 398808
Institutional Source Beutler Lab
Gene Symbol B4galnt4
Ensembl Gene ENSMUSG00000055629
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 4
Synonyms LOC381951
MMRRC Submission 042820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R5249 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 140641017-140652313 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140644983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 219 (T219I)
Ref Sequence ENSEMBL: ENSMUSP00000039758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048002]
AlphaFold Q766D5
Predicted Effect probably damaging
Transcript: ENSMUST00000048002
AA Change: T219I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: T219I

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
Meta Mutation Damage Score 0.1127 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (93/95)
Allele List at MGI

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

Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt A G 9: 99,502,284 (GRCm39) H148R probably damaging Het
Acrbp A G 6: 125,037,885 (GRCm39) D394G probably damaging Het
Adam18 T C 8: 25,115,868 (GRCm39) T609A probably benign Het
Adam25 T A 8: 41,208,991 (GRCm39) N752K probably benign Het
Ano6 A C 15: 95,811,469 (GRCm39) S176R probably benign Het
Ano7 T C 1: 93,302,918 (GRCm39) S19P probably benign Het
Ap1b1 A G 11: 4,976,364 (GRCm39) E437G probably damaging Het
Arfgap2 T A 2: 91,095,982 (GRCm39) C46* probably null Het
Arhgef26 T A 3: 62,247,981 (GRCm39) L355Q probably damaging Het
Bap1 C T 14: 30,979,243 (GRCm39) probably benign Het
Catip T G 1: 74,401,954 (GRCm39) L43R probably damaging Het
Ccdc177 G A 12: 80,805,282 (GRCm39) R331C unknown Het
Cep85l T C 10: 53,195,690 (GRCm39) probably null Het
Cfap206 T A 4: 34,714,502 (GRCm39) Q398L probably benign Het
Clec18a A G 8: 111,800,368 (GRCm39) C352R probably damaging Het
Clic6 A T 16: 92,336,339 (GRCm39) Y549F probably damaging Het
Cpne9 C T 6: 113,270,034 (GRCm39) probably benign Het
Cyb5r3 A C 15: 83,042,836 (GRCm39) probably benign Het
Dnah6 C T 6: 73,090,471 (GRCm39) R2293K probably damaging Het
Dnmbp C A 19: 43,890,879 (GRCm39) R296L probably damaging Het
Dtwd1 C A 2: 125,996,694 (GRCm39) Q60K probably benign Het
Esyt1 C A 10: 128,352,443 (GRCm39) V723L probably benign Het
Fbxo42 T C 4: 140,926,335 (GRCm39) L339P probably damaging Het
Furin A T 7: 80,043,169 (GRCm39) N347K probably damaging Het
Fzd7 T C 1: 59,522,522 (GRCm39) M135T probably damaging Het
Garin1b A G 6: 29,323,896 (GRCm39) D207G probably damaging Het
Hlf A G 11: 90,278,632 (GRCm39) M144T probably benign Het
Hyal5 C T 6: 24,876,648 (GRCm39) Q174* probably null Het
Kcnb1 T A 2: 166,947,103 (GRCm39) M582L possibly damaging Het
Kdm5d T C Y: 916,692 (GRCm39) Y391H probably damaging Het
Khdc4 T A 3: 88,604,032 (GRCm39) I283N probably damaging Het
Kif21b C T 1: 136,096,966 (GRCm39) T1297M probably damaging Het
Krt8 T G 15: 101,906,875 (GRCm39) N317T possibly damaging Het
Lctl G T 9: 64,045,196 (GRCm39) V372L probably benign Het
Lig1 C T 7: 13,042,432 (GRCm39) H822Y possibly damaging Het
Lrrc4b A G 7: 44,111,988 (GRCm39) D620G possibly damaging Het
Mboat4 C T 8: 34,582,275 (GRCm39) H10Y probably benign Het
Med1 A T 11: 98,048,066 (GRCm39) M910K probably benign Het
Mia2 A T 12: 59,154,911 (GRCm39) D209V probably damaging Het
Mpp4 C T 1: 59,184,017 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,225 (GRCm39) V229E possibly damaging Het
Mtor T A 4: 148,548,189 (GRCm39) C485S probably damaging Het
Mx1 T C 16: 97,258,628 (GRCm39) D23G probably damaging Het
Myrfl T C 10: 116,619,138 (GRCm39) D740G probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nav2 G A 7: 49,185,661 (GRCm39) V874I probably damaging Het
Ntrk3 A T 7: 78,110,914 (GRCm39) N262K possibly damaging Het
Opa1 A T 16: 29,437,077 (GRCm39) D699V probably damaging Het
Or10u4 C T 10: 129,802,078 (GRCm39) A164T probably benign Het
Or8b51 A G 9: 38,569,374 (GRCm39) C105R possibly damaging Het
Otud7a A G 7: 63,407,181 (GRCm39) N495D possibly damaging Het
Pcsk9 T C 4: 106,320,950 (GRCm39) D53G probably benign Het
Pdcd5 A G 7: 35,346,421 (GRCm39) probably benign Het
Phf21a C T 2: 92,058,822 (GRCm39) P28L probably damaging Het
Pitpnm1 T A 19: 4,158,130 (GRCm39) D573E probably damaging Het
Ppp1r35 C T 5: 137,777,406 (GRCm39) probably benign Het
Ptprq T C 10: 107,535,496 (GRCm39) Q423R probably damaging Het
Pum1 A T 4: 130,490,125 (GRCm39) Y699F probably benign Het
Rabgef1 A G 5: 130,241,841 (GRCm39) D415G probably benign Het
Rapgef6 A G 11: 54,413,943 (GRCm39) E23G probably benign Het
Rpia G T 6: 70,760,563 (GRCm39) C121* probably null Het
Sanbr A G 11: 23,525,483 (GRCm39) *719Q probably null Het
Serpinb13 T A 1: 106,926,427 (GRCm39) W201R probably damaging Het
Sh3bp4 T C 1: 89,065,456 (GRCm39) C17R probably damaging Het
Sh3d21 A G 4: 126,055,858 (GRCm39) probably benign Het
Slamf6 A C 1: 171,764,249 (GRCm39) N214T probably damaging Het
Slc7a2 T C 8: 41,361,130 (GRCm39) Y365H possibly damaging Het
Sox18 T C 2: 181,312,971 (GRCm39) probably null Het
Spink7 A T 18: 62,725,507 (GRCm39) F79I possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Sspo A T 6: 48,470,244 (GRCm39) H4561L probably damaging Het
Tcaf1 T C 6: 42,653,793 (GRCm39) K700R probably benign Het
Tcf25 G T 8: 124,115,372 (GRCm39) R203L probably damaging Het
Tcp11 T C 17: 28,290,757 (GRCm39) I201V possibly damaging Het
Tex2 T C 11: 106,437,615 (GRCm39) D685G unknown Het
Themis G T 10: 28,637,195 (GRCm39) E100* probably null Het
Tmem52b G A 6: 129,491,221 (GRCm39) probably null Het
Tnr C T 1: 159,512,226 (GRCm39) probably benign Het
Tox3 T C 8: 90,975,444 (GRCm39) I396V probably benign Het
Tpm2 T A 4: 43,514,828 (GRCm39) E269V probably benign Het
Tulp1 C T 17: 28,581,651 (GRCm39) probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Ube2j2 A C 4: 156,033,515 (GRCm39) K30Q possibly damaging Het
Usp19 T A 9: 108,369,807 (GRCm39) M1K probably null Het
Vmn2r52 C A 7: 9,910,197 (GRCm39) R6L probably benign Het
Zbed4 G A 15: 88,665,290 (GRCm39) V453M probably benign Het
Zfp319 T C 8: 96,055,099 (GRCm39) E368G probably benign Het
Zfp366 A C 13: 99,366,117 (GRCm39) E426A probably damaging Het
Zfp687 A T 3: 94,916,777 (GRCm39) I783N probably damaging Het
Other mutations in B4galnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:B4galnt4 APN 7 140,650,428 (GRCm39) missense probably benign 0.15
IGL02055:B4galnt4 APN 7 140,650,731 (GRCm39) missense probably damaging 1.00
IGL02248:B4galnt4 APN 7 140,647,721 (GRCm39) unclassified probably benign
IGL02955:B4galnt4 APN 7 140,644,591 (GRCm39) missense probably null 0.08
IGL03334:B4galnt4 APN 7 140,647,354 (GRCm39) splice site probably null
H8786:B4galnt4 UTSW 7 140,651,235 (GRCm39) missense probably damaging 0.99
R0520:B4galnt4 UTSW 7 140,647,286 (GRCm39) nonsense probably null
R0735:B4galnt4 UTSW 7 140,644,236 (GRCm39) missense probably benign 0.24
R1355:B4galnt4 UTSW 7 140,645,308 (GRCm39) missense probably damaging 1.00
R1864:B4galnt4 UTSW 7 140,650,446 (GRCm39) missense probably damaging 1.00
R1874:B4galnt4 UTSW 7 140,650,439 (GRCm39) missense probably damaging 1.00
R1928:B4galnt4 UTSW 7 140,648,061 (GRCm39) nonsense probably null
R1969:B4galnt4 UTSW 7 140,644,761 (GRCm39) missense probably benign 0.01
R3429:B4galnt4 UTSW 7 140,650,752 (GRCm39) missense probably damaging 1.00
R4239:B4galnt4 UTSW 7 140,641,239 (GRCm39) missense probably damaging 1.00
R4382:B4galnt4 UTSW 7 140,650,449 (GRCm39) missense probably damaging 0.99
R4517:B4galnt4 UTSW 7 140,647,635 (GRCm39) missense probably damaging 1.00
R4748:B4galnt4 UTSW 7 140,651,633 (GRCm39) missense probably damaging 1.00
R4827:B4galnt4 UTSW 7 140,648,392 (GRCm39) missense probably benign 0.00
R4831:B4galnt4 UTSW 7 140,644,470 (GRCm39) critical splice donor site probably null
R4831:B4galnt4 UTSW 7 140,647,634 (GRCm39) missense probably damaging 0.99
R4898:B4galnt4 UTSW 7 140,648,173 (GRCm39) missense probably benign 0.11
R5028:B4galnt4 UTSW 7 140,647,975 (GRCm39) missense probably benign 0.40
R5267:B4galnt4 UTSW 7 140,650,524 (GRCm39) missense probably damaging 0.99
R5728:B4galnt4 UTSW 7 140,650,488 (GRCm39) missense probably benign 0.00
R5924:B4galnt4 UTSW 7 140,650,742 (GRCm39) missense probably damaging 1.00
R6063:B4galnt4 UTSW 7 140,644,643 (GRCm39) missense probably benign 0.08
R6311:B4galnt4 UTSW 7 140,648,572 (GRCm39) missense probably damaging 1.00
R6376:B4galnt4 UTSW 7 140,647,335 (GRCm39) missense possibly damaging 0.87
R6689:B4galnt4 UTSW 7 140,647,897 (GRCm39) missense probably benign 0.25
R6954:B4galnt4 UTSW 7 140,647,145 (GRCm39) missense probably benign 0.01
R6974:B4galnt4 UTSW 7 140,647,449 (GRCm39) missense possibly damaging 0.95
R7041:B4galnt4 UTSW 7 140,650,593 (GRCm39) missense probably damaging 1.00
R7092:B4galnt4 UTSW 7 140,648,549 (GRCm39) missense probably damaging 1.00
R7359:B4galnt4 UTSW 7 140,651,197 (GRCm39) missense probably damaging 1.00
R7367:B4galnt4 UTSW 7 140,644,388 (GRCm39) missense probably damaging 1.00
R7409:B4galnt4 UTSW 7 140,646,916 (GRCm39) splice site probably null
R7519:B4galnt4 UTSW 7 140,644,257 (GRCm39) missense probably damaging 1.00
R7664:B4galnt4 UTSW 7 140,647,626 (GRCm39) missense probably damaging 1.00
R7679:B4galnt4 UTSW 7 140,647,678 (GRCm39) missense probably benign 0.28
R7782:B4galnt4 UTSW 7 140,644,988 (GRCm39) missense probably damaging 1.00
R8103:B4galnt4 UTSW 7 140,644,564 (GRCm39) missense possibly damaging 0.91
R8783:B4galnt4 UTSW 7 140,643,759 (GRCm39) missense probably damaging 1.00
R8796:B4galnt4 UTSW 7 140,647,488 (GRCm39) missense probably damaging 1.00
R8855:B4galnt4 UTSW 7 140,648,488 (GRCm39) missense possibly damaging 0.68
R9545:B4galnt4 UTSW 7 140,644,804 (GRCm39) missense probably benign 0.04
R9629:B4galnt4 UTSW 7 140,648,575 (GRCm39) missense probably damaging 1.00
R9680:B4galnt4 UTSW 7 140,647,957 (GRCm39) missense possibly damaging 0.94
R9708:B4galnt4 UTSW 7 140,647,657 (GRCm39) missense probably benign
RF007:B4galnt4 UTSW 7 140,650,609 (GRCm39) critical splice donor site probably null
YA93:B4galnt4 UTSW 7 140,647,324 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GCAAGGTAAGTTCTGCCCTC -3'
(R):5'- TGGGGTTGCTTCTCATCAAACAG -3'

Sequencing Primer
(F):5'- AAGGTAAGTTCTGCCCTCTTGCC -3'
(R):5'- GGGTTAGGACAAAATCTCATATCCC -3'
Posted On 2016-07-06