Incidental Mutation 'R9719:Colgalt1'
ID 730669
Institutional Source Beutler Lab
Gene Symbol Colgalt1
Ensembl Gene ENSMUSG00000034807
Gene Name collagen beta(1-O)galactosyltransferase 1
Synonyms 2810024B22Rik, Glt25d1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R9719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 72063642-72077555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72073456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 359 (E359G)
Ref Sequence ENSEMBL: ENSMUSP00000047923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030170] [ENSMUST00000047903]
AlphaFold Q8K297
Predicted Effect probably benign
Transcript: ENSMUST00000030170
SMART Domains Protein: ENSMUSP00000030170
Gene: ENSMUSG00000034799

DomainStartEndE-ValueType
C2 3 94 5.23e-10 SMART
low complexity region 187 202 N/A INTRINSIC
low complexity region 264 277 N/A INTRINSIC
low complexity region 299 310 N/A INTRINSIC
coiled coil region 321 359 N/A INTRINSIC
low complexity region 412 430 N/A INTRINSIC
low complexity region 435 450 N/A INTRINSIC
PDB:2KDU|B 454 488 3e-16 PDB
C1 563 612 3.93e-18 SMART
C2 686 793 5.86e-22 SMART
DUF1041 1002 1111 1.6e-56 SMART
Pfam:Membr_traf_MHD 1355 1520 6.3e-53 PFAM
C2 1555 1661 5.03e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047903
AA Change: E359G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: E359G

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 56 176 4.6e-22 PFAM
Pfam:Glyco_transf_25 335 520 8.8e-37 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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 one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alppl2 T A 1: 87,016,136 (GRCm39) Q241L probably benign Het
Apob T A 12: 8,065,464 (GRCm39) N4144K probably benign Het
B4gat1 A G 19: 5,090,516 (GRCm39) H413R probably benign Het
Ccdc179 T C 7: 51,664,612 (GRCm39) T28A probably benign Het
Ceacam5 A C 7: 17,491,835 (GRCm39) D735A probably damaging Het
Col18a1 C T 10: 76,949,432 (GRCm39) D27N unknown Het
Crybg2 T A 4: 133,793,148 (GRCm39) I261N probably benign Het
Cyyr1 A T 16: 85,219,203 (GRCm39) L68Q unknown Het
Dgkz T A 2: 91,768,911 (GRCm39) probably null Het
Efcab3 A T 11: 104,867,912 (GRCm39) E3947V unknown Het
Eif2ak2 C A 17: 79,162,783 (GRCm39) D472Y probably damaging Het
Elp2 A G 18: 24,755,539 (GRCm39) T429A possibly damaging Het
Fen1 G A 19: 10,178,016 (GRCm39) H143Y probably benign Het
Gm10518 C A 1: 179,631,113 (GRCm39) R58S unknown Het
Hspa1b T C 17: 35,176,467 (GRCm39) D506G probably damaging Het
Inhca G T 9: 103,132,014 (GRCm39) P569H probably benign Het
Kcna7 A G 7: 45,056,390 (GRCm39) D202G probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Mal C T 2: 127,498,025 (GRCm39) S10N possibly damaging Het
Mgat2 T A 12: 69,232,115 (GRCm39) W230R probably damaging Het
Myo3a A T 2: 22,436,493 (GRCm39) T883S probably benign Het
Ncaph2 T C 15: 89,249,526 (GRCm39) S277P probably benign Het
Olfm3 G A 3: 114,916,091 (GRCm39) W341* probably null Het
Or13c7e-ps1 A C 4: 43,781,454 (GRCm39) M292R probably damaging Het
Or1p1 A C 11: 74,180,146 (GRCm39) I225L probably damaging Het
Or5b119 A G 19: 13,457,368 (GRCm39) S65P probably damaging Het
Or5d46 T A 2: 88,169,928 (GRCm39) N6K Het
Or5g26 T A 2: 85,494,608 (GRCm39) I57F probably benign Het
Or6z1 C A 7: 6,504,999 (GRCm39) M75I probably benign Het
Pcnx4 T C 12: 72,603,039 (GRCm39) Y434H probably damaging Het
Ptpn14 T A 1: 189,583,484 (GRCm39) M777K probably benign Het
Rasef A G 4: 73,688,102 (GRCm39) I17T possibly damaging Het
Rptor A T 11: 119,781,940 (GRCm39) D1089V probably benign Het
Scel A T 14: 103,809,442 (GRCm39) probably null Het
Scfd2 A T 5: 74,386,004 (GRCm39) L605Q probably damaging Het
Son A G 16: 91,456,440 (GRCm39) E1729G probably damaging Het
Spata31e2 C G 1: 26,722,820 (GRCm39) E787Q probably benign Het
Spout1 A G 2: 30,065,813 (GRCm39) Y243H probably benign Het
Syne1 A G 10: 5,276,601 (GRCm39) F1765S possibly damaging Het
Tet2 A T 3: 133,191,803 (GRCm39) V877E possibly damaging Het
Txn2 T C 15: 77,812,289 (GRCm39) probably benign Het
Vmn1r158 T C 7: 22,489,331 (GRCm39) I293V possibly damaging Het
Vmn1r81 G A 7: 11,994,449 (GRCm39) T53I probably damaging Het
Vps18 T C 2: 119,127,553 (GRCm39) F792S probably damaging Het
Vps25 A G 11: 101,146,853 (GRCm39) D91G probably null Het
Wdr26 G A 1: 181,015,224 (GRCm39) L396F possibly damaging Het
Zfp1005 T A 2: 150,111,304 (GRCm39) C665S possibly damaging Het
Zfp26 T C 9: 20,347,861 (GRCm39) E901G possibly damaging Het
Other mutations in Colgalt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Colgalt1 APN 8 72,075,420 (GRCm39) missense probably damaging 1.00
IGL01888:Colgalt1 APN 8 72,070,318 (GRCm39) missense probably damaging 1.00
IGL03191:Colgalt1 APN 8 72,075,731 (GRCm39) splice site probably null
P0041:Colgalt1 UTSW 8 72,075,434 (GRCm39) missense probably benign 0.05
R0094:Colgalt1 UTSW 8 72,075,802 (GRCm39) missense probably damaging 1.00
R0094:Colgalt1 UTSW 8 72,075,802 (GRCm39) missense probably damaging 1.00
R1342:Colgalt1 UTSW 8 72,070,804 (GRCm39) missense probably damaging 1.00
R1642:Colgalt1 UTSW 8 72,073,401 (GRCm39) missense probably benign 0.01
R1754:Colgalt1 UTSW 8 72,075,823 (GRCm39) missense probably damaging 1.00
R1830:Colgalt1 UTSW 8 72,075,781 (GRCm39) missense probably damaging 0.99
R1844:Colgalt1 UTSW 8 72,063,995 (GRCm39) missense possibly damaging 0.84
R2050:Colgalt1 UTSW 8 72,070,330 (GRCm39) critical splice donor site probably null
R2393:Colgalt1 UTSW 8 72,076,385 (GRCm39) missense probably benign 0.00
R2406:Colgalt1 UTSW 8 72,070,312 (GRCm39) missense probably damaging 1.00
R3897:Colgalt1 UTSW 8 72,072,306 (GRCm39) missense probably damaging 1.00
R4210:Colgalt1 UTSW 8 72,075,350 (GRCm39) missense probably benign 0.34
R4909:Colgalt1 UTSW 8 72,073,277 (GRCm39) missense possibly damaging 0.80
R5428:Colgalt1 UTSW 8 72,075,420 (GRCm39) missense probably damaging 1.00
R5995:Colgalt1 UTSW 8 72,075,754 (GRCm39) missense probably damaging 1.00
R6170:Colgalt1 UTSW 8 72,074,514 (GRCm39) missense probably damaging 1.00
R6994:Colgalt1 UTSW 8 72,076,165 (GRCm39) missense probably damaging 1.00
R6995:Colgalt1 UTSW 8 72,076,165 (GRCm39) missense probably damaging 1.00
R7155:Colgalt1 UTSW 8 72,076,354 (GRCm39) missense probably damaging 0.99
R7691:Colgalt1 UTSW 8 72,073,398 (GRCm39) missense probably benign 0.00
R7877:Colgalt1 UTSW 8 72,074,508 (GRCm39) missense probably damaging 1.00
R8899:Colgalt1 UTSW 8 72,076,306 (GRCm39) missense probably damaging 1.00
X0066:Colgalt1 UTSW 8 72,076,240 (GRCm39) missense probably damaging 1.00
Z1177:Colgalt1 UTSW 8 72,075,852 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAAACATCCACCAGTGCAG -3'
(R):5'- GTAGCTGCACTCACATAGGAC -3'

Sequencing Primer
(F):5'- GATTCATCTCAGCACCCAGG -3'
(R):5'- TAGGACGCACACACATCGG -3'
Posted On 2022-10-06