Incidental Mutation 'R5428:Colgalt1'
ID 427015
Institutional Source Beutler Lab
Gene Symbol Colgalt1
Ensembl Gene ENSMUSG00000034807
Gene Name collagen beta(1-O)galactosyltransferase 1
Synonyms 2810024B22Rik, Glt25d1
MMRRC Submission 042994-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R5428 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 72063642-72077555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72075420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 442 (R442L)
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 damaging
Transcript: ENSMUST00000047903
AA Change: R442L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: R442L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212706
Meta Mutation Damage Score 0.4024 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G C 18: 6,635,918 (GRCm39) V324L probably benign Het
Abl2 T C 1: 156,469,681 (GRCm39) C982R probably damaging Het
Adgrl4 G A 3: 151,248,323 (GRCm39) C665Y probably damaging Het
Adra1d A G 2: 131,403,323 (GRCm39) S256P probably damaging Het
Aipl1 T A 11: 71,921,313 (GRCm39) Y194F probably benign Het
Arfgef1 C A 1: 10,231,060 (GRCm39) D1150Y probably damaging Het
Arl14epl A T 18: 47,059,387 (GRCm39) M1L possibly damaging Het
Ctnnd1 C T 2: 84,447,133 (GRCm39) V371M probably damaging Het
Dach1 A G 14: 98,406,705 (GRCm39) V14A unknown Het
Defa30 A G 8: 21,625,419 (GRCm39) D61G probably benign Het
Dnaja2 A T 8: 86,266,804 (GRCm39) C308S probably benign Het
Emc4 A G 2: 112,197,700 (GRCm39) probably benign Het
Foxp1 A G 6: 98,993,592 (GRCm39) V104A probably damaging Het
Fry T G 5: 150,328,824 (GRCm39) L1319R possibly damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja10 T A 4: 32,601,169 (GRCm39) H405L probably benign Het
Gm27047 A G 6: 130,607,527 (GRCm39) noncoding transcript Het
Grm1 T A 10: 10,595,307 (GRCm39) T774S probably damaging Het
Gtse1 A C 15: 85,746,340 (GRCm39) D52A probably benign Het
Kctd17 T A 15: 78,312,982 (GRCm39) F42Y probably damaging Het
Kndc1 A G 7: 139,488,878 (GRCm39) K178E probably damaging Het
Lrrc74b T C 16: 17,376,125 (GRCm39) E175G probably damaging Het
Macf1 A G 4: 123,278,661 (GRCm39) I5927T probably damaging Het
Maml2 A G 9: 13,617,191 (GRCm39) N935S probably benign Het
Man2a1 A G 17: 65,019,295 (GRCm39) I720V probably benign Het
Map3k5 C T 10: 19,899,399 (GRCm39) H219Y possibly damaging Het
Map4k5 T C 12: 69,884,787 (GRCm39) T314A possibly damaging Het
Mast3 A G 8: 71,237,377 (GRCm39) V615A possibly damaging Het
Mcmbp C T 7: 128,306,248 (GRCm39) V457I probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nacc1 T C 8: 85,402,783 (GRCm39) I337V probably damaging Het
Nipbl T C 15: 8,359,780 (GRCm39) D1475G probably benign Het
Orc1 T A 4: 108,457,137 (GRCm39) D392E probably benign Het
Pappa2 T C 1: 158,642,355 (GRCm39) T1297A possibly damaging Het
Plag1 C T 4: 3,905,538 (GRCm39) V51I possibly damaging Het
Ppp1r12a G A 10: 108,089,208 (GRCm39) E616K possibly damaging Het
Ptgs1 A G 2: 36,135,280 (GRCm39) M415V probably benign Het
Ralgapa2 C T 2: 146,176,414 (GRCm39) E1683K probably damaging Het
Rap2a T A 14: 120,716,406 (GRCm39) F90I probably benign Het
Rcvrn A G 11: 67,590,875 (GRCm39) E153G possibly damaging Het
Sharpin C A 15: 76,234,866 (GRCm39) probably benign Het
Skil T A 3: 31,151,647 (GRCm39) D56E probably benign Het
Slc22a18 G T 7: 143,033,082 (GRCm39) G57W probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Synj1 T C 16: 90,788,406 (GRCm39) D154G probably damaging Het
Tbc1d24 A T 17: 24,400,746 (GRCm39) N156K probably benign Het
Tcea1 A T 1: 4,950,568 (GRCm39) probably benign Het
Tmc3 T C 7: 83,261,755 (GRCm39) V611A probably damaging Het
Tnrc6c A G 11: 117,591,588 (GRCm39) M1V probably null Het
Tomm5 A T 4: 45,106,689 (GRCm39) probably benign Het
Ttc6 A G 12: 57,736,620 (GRCm39) K1207R probably null Het
Ttn T C 2: 76,591,448 (GRCm39) T12747A possibly damaging Het
Ttn A T 2: 76,715,480 (GRCm39) probably benign Het
Utrn T C 10: 12,569,175 (GRCm39) D1147G probably benign Het
Vmn1r53 T C 6: 90,200,395 (GRCm39) I310V probably benign Het
Washc4 A C 10: 83,410,386 (GRCm39) D658A probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Ylpm1 T C 12: 85,077,003 (GRCm39) F1243L probably benign Het
Zbtb24 T C 10: 41,340,784 (GRCm39) S605P probably benign Het
Zfy1 T G Y: 726,205 (GRCm39) H520P 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
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
R9719:Colgalt1 UTSW 8 72,073,456 (GRCm39) missense probably benign 0.00
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'- CATGGTGGGCAAATAGCTGG -3'
(R):5'- GGCTTGGCACAGGGAAATTG -3'

Sequencing Primer
(F):5'- TGGGCAAATAGCTGGATGTG -3'
(R):5'- AGACAGCAGAGCTCTGACGTC -3'
Posted On 2016-09-01