Incidental Mutation 'R6954:B4galnt4'
ID 541368
Institutional Source Beutler Lab
Gene Symbol B4galnt4
Ensembl Gene ENSMUSG00000055629
Gene Name beta-1,4-N-acetyl-galactosaminyl transferase 4
Synonyms LOC381951
MMRRC Submission 045066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R6954 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 141061104-141072400 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141067232 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 326 (T326A)
Ref Sequence ENSEMBL: ENSMUSP00000039758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048002]
AlphaFold Q766D5
Predicted Effect probably benign
Transcript: ENSMUST00000048002
AA Change: T326A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000039758
Gene: ENSMUSG00000055629
AA Change: T326A

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 probably benign
Transcript: ENSMUST00000210517
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 98% (57/58)
Allele List at MGI

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

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik T A 11: 58,608,488 (GRCm38) Y168F probably benign Het
4930451I11Rik A T 7: 126,830,637 (GRCm38) probably null Het
Alox5 A C 6: 116,420,280 (GRCm38) Y314* probably null Het
Ap4e1 T C 2: 127,064,951 (GRCm38) S1044P probably benign Het
Ash2l A G 8: 25,822,768 (GRCm38) V391A possibly damaging Het
Ccm2 T A 11: 6,594,239 (GRCm38) I345N probably damaging Het
Cntnap3 G A 13: 64,748,559 (GRCm38) H1034Y probably benign Het
Cpsf1 A G 15: 76,599,496 (GRCm38) L849S probably damaging Het
Ctrb1 A G 8: 111,686,664 (GRCm38) S239P probably damaging Het
D13Ertd608e A G 13: 119,846,130 (GRCm38) D20G possibly damaging Het
Dennd1b T A 1: 139,168,945 (GRCm38) probably benign Het
Dnah17 A G 11: 118,066,432 (GRCm38) I2773T probably damaging Het
Eif2b2 T A 12: 85,226,043 (GRCm38) F267L probably damaging Het
Fcrls A G 3: 87,263,676 (GRCm38) probably benign Het
Furin G T 7: 80,396,964 (GRCm38) D181E possibly damaging Het
Gm29106 T A 1: 118,200,587 (GRCm38) C670S probably damaging Het
Gm6309 A T 5: 146,168,490 (GRCm38) D204E possibly damaging Het
Hsf2 T A 10: 57,504,643 (GRCm38) I191N probably damaging Het
Hspa12a T C 19: 58,799,692 (GRCm38) D566G probably benign Het
Igf1 G C 10: 87,864,860 (GRCm38) V49L probably damaging Het
Igfbpl1 C T 4: 45,826,663 (GRCm38) C44Y probably damaging Het
Letm1 G A 5: 33,782,507 (GRCm38) R16C probably benign Het
Marf1 A G 16: 14,138,520 (GRCm38) V819A probably damaging Het
Mfsd4b4 A T 10: 39,891,952 (GRCm38) S428T probably benign Het
Myo1d T C 11: 80,674,957 (GRCm38) I347M probably benign Het
Myo9b A G 8: 71,290,819 (GRCm38) I175V probably damaging Het
Naip5 A T 13: 100,223,414 (GRCm38) V438E probably damaging Het
Nup205 T A 6: 35,208,109 (GRCm38) V768E possibly damaging Het
Olfr1015 T A 2: 85,786,382 (GRCm38) Y290* probably null Het
Olfr731 A T 14: 50,238,110 (GRCm38) Y258* probably null Het
Pcdh15 C T 10: 74,645,989 (GRCm38) H1651Y possibly damaging Het
Pdgfra A T 5: 75,173,394 (GRCm38) Q376L possibly damaging Het
Pign T C 1: 105,553,897 (GRCm38) I791M probably benign Het
Pik3c2b T G 1: 133,066,303 (GRCm38) S2A possibly damaging Het
Pip5k1a A T 3: 95,068,247 (GRCm38) I304K probably damaging Het
Pkdrej A T 15: 85,817,853 (GRCm38) L1294* probably null Het
Pprc1 T C 19: 46,064,433 (GRCm38) S797P probably damaging Het
Prob1 A G 18: 35,654,268 (GRCm38) V311A probably benign Het
Prune2 C A 19: 17,000,021 (GRCm38) T40K probably damaging Het
Rif1 T G 2: 52,112,691 (GRCm38) D2052E probably benign Het
Sall1 A G 8: 89,032,891 (GRCm38) V195A probably damaging Het
Scfd1 T C 12: 51,427,946 (GRCm38) probably null Het
Sidt2 A T 9: 45,952,850 (GRCm38) N123K probably benign Het
Slc22a6 G A 19: 8,622,096 (GRCm38) A320T probably benign Het
Slc25a10 A G 11: 120,498,147 (GRCm38) H279R probably benign Het
Slc35b4 A G 6: 34,158,621 (GRCm38) V252A probably benign Het
Slc46a3 T C 5: 147,886,340 (GRCm38) T231A probably benign Het
Stxbp1 T A 2: 32,801,893 (GRCm38) H429L probably damaging Het
Tas2r134 C T 2: 51,627,770 (GRCm38) T87I probably benign Het
Tdpoz2 A T 3: 93,652,275 (GRCm38) L130H probably damaging Het
Tmem69 T C 4: 116,554,724 (GRCm38) probably null Het
Tmppe G A 9: 114,405,523 (GRCm38) V297I probably benign Het
Ung G T 5: 114,131,337 (GRCm38) A37S probably benign Het
Vdac1 T C 11: 52,386,373 (GRCm38) Y237H probably damaging Het
Vgll4 T C 6: 114,921,367 (GRCm38) Y11C probably damaging Het
Vmn1r24 A G 6: 57,956,452 (GRCm38) I27T probably benign Het
Zfp280b T A 10: 76,039,688 (GRCm38) M467K probably benign Het
Zkscan4 A G 13: 21,484,365 (GRCm38) I329V probably damaging Het
Other mutations in B4galnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01598:B4galnt4 APN 7 141,070,515 (GRCm38) missense probably benign 0.15
IGL02055:B4galnt4 APN 7 141,070,818 (GRCm38) missense probably damaging 1.00
IGL02248:B4galnt4 APN 7 141,067,808 (GRCm38) unclassified probably benign
IGL02955:B4galnt4 APN 7 141,064,678 (GRCm38) missense probably null 0.08
IGL03334:B4galnt4 APN 7 141,067,441 (GRCm38) splice site probably null
H8786:B4galnt4 UTSW 7 141,071,322 (GRCm38) missense probably damaging 0.99
R0520:B4galnt4 UTSW 7 141,067,373 (GRCm38) nonsense probably null
R0735:B4galnt4 UTSW 7 141,064,323 (GRCm38) missense probably benign 0.24
R1355:B4galnt4 UTSW 7 141,065,395 (GRCm38) missense probably damaging 1.00
R1864:B4galnt4 UTSW 7 141,070,533 (GRCm38) missense probably damaging 1.00
R1874:B4galnt4 UTSW 7 141,070,526 (GRCm38) missense probably damaging 1.00
R1928:B4galnt4 UTSW 7 141,068,148 (GRCm38) nonsense probably null
R1969:B4galnt4 UTSW 7 141,064,848 (GRCm38) missense probably benign 0.01
R3429:B4galnt4 UTSW 7 141,070,839 (GRCm38) missense probably damaging 1.00
R4239:B4galnt4 UTSW 7 141,061,326 (GRCm38) missense probably damaging 1.00
R4382:B4galnt4 UTSW 7 141,070,536 (GRCm38) missense probably damaging 0.99
R4517:B4galnt4 UTSW 7 141,067,722 (GRCm38) missense probably damaging 1.00
R4748:B4galnt4 UTSW 7 141,071,720 (GRCm38) missense probably damaging 1.00
R4827:B4galnt4 UTSW 7 141,068,479 (GRCm38) missense probably benign 0.00
R4831:B4galnt4 UTSW 7 141,064,557 (GRCm38) critical splice donor site probably null
R4831:B4galnt4 UTSW 7 141,067,721 (GRCm38) missense probably damaging 0.99
R4898:B4galnt4 UTSW 7 141,068,260 (GRCm38) missense probably benign 0.11
R5028:B4galnt4 UTSW 7 141,068,062 (GRCm38) missense probably benign 0.40
R5249:B4galnt4 UTSW 7 141,065,070 (GRCm38) missense probably damaging 1.00
R5267:B4galnt4 UTSW 7 141,070,611 (GRCm38) missense probably damaging 0.99
R5728:B4galnt4 UTSW 7 141,070,575 (GRCm38) missense probably benign 0.00
R5924:B4galnt4 UTSW 7 141,070,829 (GRCm38) missense probably damaging 1.00
R6063:B4galnt4 UTSW 7 141,064,730 (GRCm38) missense probably benign 0.08
R6311:B4galnt4 UTSW 7 141,068,659 (GRCm38) missense probably damaging 1.00
R6376:B4galnt4 UTSW 7 141,067,422 (GRCm38) missense possibly damaging 0.87
R6689:B4galnt4 UTSW 7 141,067,984 (GRCm38) missense probably benign 0.25
R6974:B4galnt4 UTSW 7 141,067,536 (GRCm38) missense possibly damaging 0.95
R7041:B4galnt4 UTSW 7 141,070,680 (GRCm38) missense probably damaging 1.00
R7092:B4galnt4 UTSW 7 141,068,636 (GRCm38) missense probably damaging 1.00
R7359:B4galnt4 UTSW 7 141,071,284 (GRCm38) missense probably damaging 1.00
R7367:B4galnt4 UTSW 7 141,064,475 (GRCm38) missense probably damaging 1.00
R7409:B4galnt4 UTSW 7 141,067,003 (GRCm38) splice site probably null
R7519:B4galnt4 UTSW 7 141,064,344 (GRCm38) missense probably damaging 1.00
R7664:B4galnt4 UTSW 7 141,067,713 (GRCm38) missense probably damaging 1.00
R7679:B4galnt4 UTSW 7 141,067,765 (GRCm38) missense probably benign 0.28
R7782:B4galnt4 UTSW 7 141,065,075 (GRCm38) missense probably damaging 1.00
R8103:B4galnt4 UTSW 7 141,064,651 (GRCm38) missense possibly damaging 0.91
R8783:B4galnt4 UTSW 7 141,063,846 (GRCm38) missense probably damaging 1.00
R8796:B4galnt4 UTSW 7 141,067,575 (GRCm38) missense probably damaging 1.00
R8855:B4galnt4 UTSW 7 141,068,575 (GRCm38) missense possibly damaging 0.68
R9545:B4galnt4 UTSW 7 141,064,891 (GRCm38) missense probably benign 0.04
R9629:B4galnt4 UTSW 7 141,068,662 (GRCm38) missense probably damaging 1.00
R9680:B4galnt4 UTSW 7 141,068,044 (GRCm38) missense possibly damaging 0.94
R9708:B4galnt4 UTSW 7 141,067,744 (GRCm38) missense probably benign
RF007:B4galnt4 UTSW 7 141,070,696 (GRCm38) critical splice donor site probably null
YA93:B4galnt4 UTSW 7 141,067,411 (GRCm38) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- ATTTCCTCAGGGGATGGCTG -3'
(R):5'- TGGCTATGGGGAAATCCTTGAG -3'

Sequencing Primer
(F):5'- GGCTCAGCATGGGGATG -3'
(R):5'- CTTGAGGATATAGGTGGGGGCATAG -3'
Posted On 2018-11-28