Incidental Mutation 'R6170:Colgalt1'
ID 490386
Institutional Source Beutler Lab
Gene Symbol Colgalt1
Ensembl Gene ENSMUSG00000034807
Gene Name collagen beta(1-O)galactosyltransferase 1
Synonyms 2810024B22Rik, Glt25d1
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.232) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 72063642-72077555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72074514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 409 (L409F)
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: L409F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000047923
Gene: ENSMUSG00000034807
AA Change: L409F

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 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,555 (GRCm39) S90R probably benign Het
4930523C07Rik C A 1: 159,902,743 (GRCm39) N4K possibly damaging Het
Adgrl2 A G 3: 148,528,645 (GRCm39) S1167P probably damaging Het
Akr1e1 T C 13: 4,652,723 (GRCm39) D94G possibly damaging Het
Anln T C 9: 22,279,793 (GRCm39) N466D probably benign Het
Atp9b T A 18: 80,920,562 (GRCm39) I231L probably benign Het
Bpifb3 T A 2: 153,761,557 (GRCm39) M2K unknown Het
Btbd3 T C 2: 138,120,862 (GRCm39) L12P probably damaging Het
Btnl6 T A 17: 34,734,480 (GRCm39) Y94F probably damaging Het
Cab39 T A 1: 85,746,176 (GRCm39) L19* probably null Het
Cacna2d2 A G 9: 107,404,533 (GRCm39) D1114G probably damaging Het
Cdcp3 A T 7: 130,776,216 (GRCm39) probably null Het
Cdh11 A G 8: 103,361,442 (GRCm39) V632A probably benign Het
Cemip T G 7: 83,596,438 (GRCm39) T1109P possibly damaging Het
Col7a1 C A 9: 108,795,511 (GRCm39) P1522Q unknown Het
Crtc2 A G 3: 90,166,907 (GRCm39) M125V probably benign Het
Cyp2b19 T G 7: 26,458,519 (GRCm39) M78R possibly damaging Het
Cyp4a12a A C 4: 115,184,643 (GRCm39) D308A possibly damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Ddah1 A G 3: 145,597,261 (GRCm39) D166G probably benign Het
Dmtn T C 14: 70,854,795 (GRCm39) D60G probably damaging Het
Dsg1a A T 18: 20,469,043 (GRCm39) D607V probably damaging Het
Ebf1 T A 11: 44,774,712 (GRCm39) N236K probably damaging Het
Emc1 A G 4: 139,093,689 (GRCm39) T600A probably benign Het
Fbxo33 T C 12: 59,251,435 (GRCm39) N360S probably benign Het
Fbxw5 A G 2: 25,393,615 (GRCm39) D72G possibly damaging Het
Fhad1 T A 4: 141,618,263 (GRCm39) K1388* probably null Het
Fzd7 A G 1: 59,523,004 (GRCm39) M296V probably benign Het
Gdpd3 T C 7: 126,370,336 (GRCm39) I257T probably benign Het
Glt28d2 T G 3: 85,779,248 (GRCm39) D75A possibly damaging Het
Gm14295 G A 2: 176,502,937 (GRCm39) probably benign Het
Gm28729 A G 9: 96,401,494 (GRCm39) I98T probably damaging Het
Gm4924 C T 10: 82,213,065 (GRCm39) Q288* probably null Het
Gpr150 T C 13: 76,204,676 (GRCm39) M90V probably damaging Het
Ireb2 G A 9: 54,794,656 (GRCm39) V331I probably benign Het
Lpcat2b A T 5: 107,581,760 (GRCm39) Y363F probably benign Het
Me2 T C 18: 73,918,852 (GRCm39) I410V probably benign Het
Naxe T C 3: 87,965,537 (GRCm39) E58G probably damaging Het
Nlrp10 T A 7: 108,523,671 (GRCm39) D603V probably benign Het
Nlrp1b T A 11: 71,046,905 (GRCm39) Y1149F probably damaging Het
Nrg1 A G 8: 32,308,508 (GRCm39) Y503H probably damaging Het
Nxpe4 C T 9: 48,304,104 (GRCm39) P64S probably benign Het
Pkd1l3 A T 8: 110,349,811 (GRCm39) T219S unknown Het
Plagl1 T C 10: 13,002,975 (GRCm39) L81P probably damaging Het
Poglut3 T C 9: 53,311,042 (GRCm39) V481A possibly damaging Het
Polq A G 16: 36,866,174 (GRCm39) Q457R possibly damaging Het
Potefam1 A G 2: 111,058,293 (GRCm39) Y167H probably benign Het
Ppargc1a C A 5: 51,631,253 (GRCm39) A459S probably damaging Het
Ppp1r13l A G 7: 19,104,362 (GRCm39) D253G probably benign Het
Prl2c2 T A 13: 13,176,757 (GRCm39) N55Y probably damaging Het
Prlr T C 15: 10,328,935 (GRCm39) F470S probably benign Het
Serpina12 T C 12: 104,004,500 (GRCm39) D44G probably benign Het
Sfxn1 T G 13: 54,260,526 (GRCm39) S291R probably benign Het
Sipa1l1 A G 12: 82,388,446 (GRCm39) D224G probably benign Het
Slc30a7 A G 3: 115,784,392 (GRCm39) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm39) V937A probably benign Het
Stox2 T A 8: 47,645,055 (GRCm39) M802L probably benign Het
Tmem150a G A 6: 72,333,728 (GRCm39) R30H probably benign Het
Tmem210 G A 2: 25,178,776 (GRCm39) probably null Het
Tor3a T C 1: 156,484,143 (GRCm39) N269S possibly damaging Het
Trp63 A C 16: 25,703,603 (GRCm39) N423T probably benign Het
Vmn2r60 A G 7: 41,785,045 (GRCm39) I86V possibly damaging Het
Vmn2r74 T C 7: 85,606,348 (GRCm39) I333V probably benign Het
Vwa7 C A 17: 35,240,186 (GRCm39) H385N possibly damaging Het
Wdr1 T C 5: 38,687,014 (GRCm39) probably null Het
Wdr31 A G 4: 62,381,661 (GRCm39) Y57H probably damaging Het
Zbtb44 T A 9: 30,964,678 (GRCm39) H29Q probably damaging Het
Zfp532 T A 18: 65,757,509 (GRCm39) S481T probably damaging Het
Zfp955b G T 17: 33,521,084 (GRCm39) R184S probably benign 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
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'- AGGTTCATCAGTAGGCAGGAC -3'
(R):5'- TGAAGACAGTTCATGCAACAGAC -3'

Sequencing Primer
(F):5'- GTTTTCCTCCCAATCCCCATTG -3'
(R):5'- CACCAAAATGTAGTCACAGATTCTG -3'
Posted On 2017-10-10