Incidental Mutation 'IGL02900:Colgalt2'
ID 363549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Colgalt2
Ensembl Gene ENSMUSG00000032649
Gene Name collagen beta(1-O)galactosyltransferase 2
Synonyms Glt25d2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02900
Quality Score
Status
Chromosome 1
Chromosomal Location 152399830-152510695 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152508730 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 607 (T607M)
Ref Sequence ENSEMBL: ENSMUSP00000037532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044311] [ENSMUST00000127586]
AlphaFold Q6NVG7
Predicted Effect probably damaging
Transcript: ENSMUST00000044311
AA Change: T607M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037532
Gene: ENSMUSG00000032649
AA Change: T607M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 61 181 1.3e-20 PFAM
Pfam:Glyco_transf_25 340 525 5.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127586
SMART Domains Protein: ENSMUSP00000119210
Gene: ENSMUSG00000032649

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Glyco_tranf_2_4 61 181 4.3e-17 PFAM
Pfam:Glyco_transf_25 340 466 3.2e-37 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,948 T23N possibly damaging Het
Angpt4 T A 2: 151,911,471 V47E probably damaging Het
Arhgef11 G A 3: 87,733,160 R1208Q probably benign Het
Calb1 T C 4: 15,895,695 probably benign Het
Capn11 G T 17: 45,630,614 probably null Het
Carmil2 T A 8: 105,695,519 I1140N probably damaging Het
Cnn3 A T 3: 121,451,494 T23S probably benign Het
Cyp46a1 T G 12: 108,343,091 V93G probably damaging Het
Dcaf6 T C 1: 165,399,775 Y261C probably damaging Het
Dnah10 A G 5: 124,801,822 Y2715C probably damaging Het
Dsg1a G T 18: 20,328,656 probably benign Het
Eml4 C T 17: 83,477,992 P862L probably benign Het
Gm13088 A T 4: 143,655,515 F204I possibly damaging Het
Gm5414 T C 15: 101,627,807 T128A probably damaging Het
Gp9 G T 6: 87,779,433 W143C probably damaging Het
Hipk2 T C 6: 38,729,944 I670V probably damaging Het
Hoxa10 T C 6: 52,232,561 K77R possibly damaging Het
Kcna1 T G 6: 126,643,094 S88R probably damaging Het
Kif1b A T 4: 149,180,809 S1758T possibly damaging Het
Klk11 A G 7: 43,778,413 T182A probably damaging Het
Lrp1 G A 10: 127,576,647 probably benign Het
Magi1 A G 6: 93,686,873 S991P probably damaging Het
Mast4 T A 13: 102,735,676 T2203S probably benign Het
Mxra8 A G 4: 155,841,211 probably null Het
Mxra8 A G 4: 155,841,119 E95G possibly damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr112 A G 17: 37,563,849 I154T possibly damaging Het
Olfr452 T A 6: 42,790,874 Y278* probably null Het
Olfr967 A T 9: 39,750,605 H73L probably benign Het
Olfr971 T A 9: 39,839,812 I126N probably damaging Het
Pbx4 A G 8: 69,866,566 E249G probably damaging Het
Pkd1l2 T C 8: 117,024,091 E1727G probably benign Het
Plec T G 15: 76,186,214 D932A probably damaging Het
Raph1 T C 1: 60,502,863 D364G probably damaging Het
Rps29 T A 12: 69,159,051 H3L probably damaging Het
Sema4c A T 1: 36,550,745 C509* probably null Het
Srgap2 A T 1: 131,411,796 probably benign Het
Stam2 A T 2: 52,708,197 D243E probably benign Het
Stxbp4 A G 11: 90,607,035 L146P probably benign Het
Teddm3 G T 16: 21,153,150 T223K probably benign Het
Tfap2d A T 1: 19,119,250 N285Y probably damaging Het
Tmprss3 T A 17: 31,184,579 D416V probably damaging Het
Vmn1r71 T A 7: 10,748,674 Y29F probably benign Het
Vmn2r84 T C 10: 130,387,992 probably benign Het
Washc2 G T 6: 116,227,474 D362Y probably damaging Het
Wbp2nl T C 15: 82,313,834 S191P probably benign Het
Zfp608 T C 18: 54,946,793 T307A probably damaging Het
Zfp970 T C 2: 177,474,817 probably benign Het
Other mutations in Colgalt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Colgalt2 APN 1 152506878 missense probably damaging 0.98
R0280:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0282:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0328:Colgalt2 UTSW 1 152473108 missense probably damaging 1.00
R0409:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0412:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0485:Colgalt2 UTSW 1 152484871 missense probably damaging 1.00
R0518:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0519:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0556:Colgalt2 UTSW 1 152471813 splice site probably benign
R0605:Colgalt2 UTSW 1 152495792 splice site probably benign
R0628:Colgalt2 UTSW 1 152508561 missense possibly damaging 0.68
R0972:Colgalt2 UTSW 1 152471744 missense probably damaging 1.00
R1170:Colgalt2 UTSW 1 152503017 missense probably damaging 1.00
R1373:Colgalt2 UTSW 1 152473161 missense probably damaging 1.00
R1452:Colgalt2 UTSW 1 152504153 missense probably damaging 1.00
R1456:Colgalt2 UTSW 1 152484904 missense probably damaging 1.00
R1544:Colgalt2 UTSW 1 152484952 missense probably damaging 1.00
R1707:Colgalt2 UTSW 1 152400363 missense probably damaging 1.00
R2285:Colgalt2 UTSW 1 152468550 missense probably benign 0.00
R2917:Colgalt2 UTSW 1 152471744 missense probably damaging 1.00
R3916:Colgalt2 UTSW 1 152508611 nonsense probably null
R3917:Colgalt2 UTSW 1 152508611 nonsense probably null
R4250:Colgalt2 UTSW 1 152489887 missense probably benign 0.00
R4282:Colgalt2 UTSW 1 152468531 missense probably damaging 1.00
R4421:Colgalt2 UTSW 1 152485012 missense probably damaging 0.99
R4583:Colgalt2 UTSW 1 152506876 missense probably damaging 1.00
R4743:Colgalt2 UTSW 1 152400343 missense probably damaging 0.97
R4751:Colgalt2 UTSW 1 152489876 missense probably benign 0.34
R4832:Colgalt2 UTSW 1 152484998 missense possibly damaging 0.87
R4930:Colgalt2 UTSW 1 152499959 missense possibly damaging 0.92
R5319:Colgalt2 UTSW 1 152484869 missense possibly damaging 0.78
R5504:Colgalt2 UTSW 1 152400303 missense possibly damaging 0.88
R5916:Colgalt2 UTSW 1 152504122 missense probably damaging 1.00
R6006:Colgalt2 UTSW 1 152473161 missense probably damaging 1.00
R6362:Colgalt2 UTSW 1 152471798 missense probably damaging 1.00
R6837:Colgalt2 UTSW 1 152506828 missense probably damaging 1.00
R7464:Colgalt2 UTSW 1 152504144 missense probably damaging 0.97
R8462:Colgalt2 UTSW 1 152503072 missense probably damaging 1.00
R8725:Colgalt2 UTSW 1 152484911 missense probably damaging 0.99
R8727:Colgalt2 UTSW 1 152484911 missense probably damaging 0.99
R9118:Colgalt2 UTSW 1 152503155 intron probably benign
R9186:Colgalt2 UTSW 1 152508652 missense probably damaging 0.98
R9393:Colgalt2 UTSW 1 152484847 nonsense probably null
R9611:Colgalt2 UTSW 1 152484994 missense probably damaging 1.00
X0028:Colgalt2 UTSW 1 152471720 missense probably damaging 1.00
Posted On 2015-12-18