Incidental Mutation 'R6538:St6galnac4'
ID 520512
Institutional Source Beutler Lab
Gene Symbol St6galnac4
Ensembl Gene ENSMUSG00000079442
Gene Name ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
Synonyms Siat7d, ST6GalNAc IV
MMRRC Submission 044664-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6538 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32477107-32489710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 32487090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 262 (M262L)
Ref Sequence ENSEMBL: ENSMUSP00000136093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102818] [ENSMUST00000131229] [ENSMUST00000140983] [ENSMUST00000179989]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000102818
AA Change: M262L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099882
Gene: ENSMUSG00000079442
AA Change: M262L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 48 296 4.5e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123080
Predicted Effect probably benign
Transcript: ENSMUST00000131229
SMART Domains Protein: ENSMUSP00000115430
Gene: ENSMUSG00000026811

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 35 176 3.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140983
SMART Domains Protein: ENSMUSP00000114934
Gene: ENSMUSG00000026811

DomainStartEndE-ValueType
Pfam:Glyco_transf_29 21 229 7.3e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175406
Predicted Effect possibly damaging
Transcript: ENSMUST00000179989
AA Change: M262L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136093
Gene: ENSMUSG00000079442
AA Change: M262L

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 46 296 1.7e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192934
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik A G 10: 115,406,104 (GRCm39) probably benign Het
Abcd4 T A 12: 84,658,535 (GRCm39) M223L probably benign Het
Adat1 T C 8: 112,695,094 (GRCm39) I482V probably benign Het
Adrm1b C T 3: 92,336,562 (GRCm39) V47M possibly damaging Het
Arfgef2 A G 2: 166,735,541 (GRCm39) probably null Het
Atn1 A G 6: 124,723,512 (GRCm39) probably benign Het
Cyb561d2 C A 9: 107,417,216 (GRCm39) M178I possibly damaging Het
Dnah14 A T 1: 181,412,550 (GRCm39) H30L unknown Het
Dnah2 T C 11: 69,328,023 (GRCm39) I3367V possibly damaging Het
Fcmr A G 1: 130,802,762 (GRCm39) Y125C possibly damaging Het
Gm7298 G T 6: 121,753,132 (GRCm39) V870L probably damaging Het
Grin3a T C 4: 49,770,856 (GRCm39) S639G probably damaging Het
H1f6 A G 13: 23,879,904 (GRCm39) E19G probably benign Het
Ighv9-1 T A 12: 114,057,685 (GRCm39) T72S possibly damaging Het
Klra2 T A 6: 131,219,953 (GRCm39) H76L probably damaging Het
Lamp1 A G 8: 13,221,285 (GRCm39) T209A probably benign Het
Lrrc9 T A 12: 72,547,703 (GRCm39) Y1294N probably benign Het
Or2b11 C T 11: 59,462,411 (GRCm39) V52I probably benign Het
Or5t9 A T 2: 86,659,869 (GRCm39) T258S possibly damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pik3ca T C 3: 32,493,853 (GRCm39) Y272H probably damaging Het
Spindoc T C 19: 7,360,064 (GRCm39) I35V probably benign Het
Szt2 C T 4: 118,247,674 (GRCm39) probably null Het
Tcstv7b T C 13: 120,702,468 (GRCm39) V88A possibly damaging Het
Trem1 T C 17: 48,544,118 (GRCm39) Y48H possibly damaging Het
Trim38 A T 13: 23,969,932 (GRCm39) T164S probably damaging Het
Zfp715 A T 7: 42,948,573 (GRCm39) H462Q possibly damaging Het
Zfyve16 C T 13: 92,641,024 (GRCm39) G1240E probably damaging Het
Other mutations in St6galnac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01608:St6galnac4 APN 2 32,484,098 (GRCm39) missense probably damaging 1.00
IGL02615:St6galnac4 APN 2 32,484,216 (GRCm39) missense probably benign 0.33
IGL02742:St6galnac4 APN 2 32,487,096 (GRCm39) missense possibly damaging 0.46
paxinterra UTSW 2 32,484,111 (GRCm39) missense probably damaging 1.00
warcraft UTSW 2 32,484,075 (GRCm39) missense probably damaging 1.00
R0454:St6galnac4 UTSW 2 32,484,330 (GRCm39) missense probably damaging 1.00
R0550:St6galnac4 UTSW 2 32,484,031 (GRCm39) nonsense probably null
R0647:St6galnac4 UTSW 2 32,479,460 (GRCm39) missense probably damaging 0.96
R3419:St6galnac4 UTSW 2 32,485,743 (GRCm39) missense probably damaging 1.00
R4682:St6galnac4 UTSW 2 32,484,111 (GRCm39) missense probably damaging 1.00
R4700:St6galnac4 UTSW 2 32,477,172 (GRCm39) unclassified probably benign
R4995:St6galnac4 UTSW 2 32,484,075 (GRCm39) missense probably damaging 1.00
R8273:St6galnac4 UTSW 2 32,477,667 (GRCm39) start gained probably benign
R8391:St6galnac4 UTSW 2 32,484,086 (GRCm39) missense probably damaging 1.00
R8887:St6galnac4 UTSW 2 32,484,110 (GRCm39) missense probably damaging 1.00
R9388:St6galnac4 UTSW 2 32,479,625 (GRCm39) missense probably damaging 1.00
R9507:St6galnac4 UTSW 2 32,485,739 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATTTCTGAATCCTGGCCAATG -3'
(R):5'- TCACATTAGAGCCGTGTTGG -3'

Sequencing Primer
(F):5'- CAGCTTTGAGGCCTTGTT -3'
(R):5'- TGGCCTGGAATGGGTCACAG -3'
Posted On 2018-06-06