Incidental Mutation 'R1381:Galntl6'
ID 163029
Institutional Source Beutler Lab
Gene Symbol Galntl6
Ensembl Gene ENSMUSG00000096914
Gene Name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6
Synonyms 4930431L04Rik, 1700021K10Rik
MMRRC Submission 039443-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1381 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 58227086-59365674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 58925989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 92 (P92Q)
Ref Sequence ENSEMBL: ENSMUSP00000145321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000146513] [ENSMUST00000188531] [ENSMUST00000204128]
AlphaFold E5D8G1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000077447
SMART Domains Protein: ENSMUSP00000076660
Gene: ENSMUSG00000061864

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
Pfam:Glycos_transf_2 143 188 4.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146513
SMART Domains Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188531
AA Change: P47Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139677
Gene: ENSMUSG00000096914
AA Change: P47Q

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 98 139 2.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204128
AA Change: P92Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: P92Q

DomainStartEndE-ValueType
transmembrane domain 13 31 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 140 404 2.1e-9 PFAM
Pfam:Glycos_transf_2 143 328 7.3e-33 PFAM
Pfam:Glyco_tranf_2_2 143 356 1.2e-8 PFAM
Pfam:Glyco_transf_7C 297 371 6.2e-12 PFAM
RICIN 452 585 7.9e-21 SMART
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,561,430 (GRCm39) F252L probably benign Het
Aadac A T 3: 59,947,351 (GRCm39) M350L probably damaging Het
Agtrap G A 4: 148,168,422 (GRCm39) T19I probably damaging Het
Apba3 C T 10: 81,107,590 (GRCm39) T142M possibly damaging Het
Cd55b T A 1: 130,347,412 (GRCm39) K133I probably damaging Het
Cep295 A C 9: 15,233,861 (GRCm39) C2312G probably benign Het
Ces1a A G 8: 93,760,659 (GRCm39) V231A probably damaging Het
Chdh C A 14: 29,758,791 (GRCm39) L579I probably damaging Het
Cyb5r4 T A 9: 86,904,286 (GRCm39) S19T probably benign Het
Cyp2d22 C A 15: 82,256,709 (GRCm39) R355L probably benign Het
Dach2 T C X: 112,208,472 (GRCm39) Y117H probably damaging Het
Dennd4c G A 4: 86,692,769 (GRCm39) R93K probably benign Het
Dph2 G T 4: 117,746,865 (GRCm39) L452I probably damaging Het
Exoc6b T C 6: 84,812,099 (GRCm39) D634G probably benign Het
Fam217b G A 2: 178,062,218 (GRCm39) V61I probably benign Het
Fbln7 A C 2: 128,719,299 (GRCm39) Q32P probably damaging Het
Fgfr1op2 A G 6: 146,490,239 (GRCm39) Y46C probably damaging Het
Fhod3 T A 18: 25,223,528 (GRCm39) I958N probably damaging Het
Foxp2 T A 6: 15,409,765 (GRCm39) M455K possibly damaging Het
Gabrr2 G A 4: 33,081,420 (GRCm39) G152D probably damaging Het
Gm5592 A T 7: 40,935,596 (GRCm39) T33S probably benign Het
Grid2ip A T 5: 143,348,406 (GRCm39) T166S probably benign Het
Grsf1 G A 5: 88,813,723 (GRCm39) S225L probably benign Het
Hadha G T 5: 30,333,834 (GRCm39) T395K probably benign Het
Hars2 C T 18: 36,922,270 (GRCm39) A295V possibly damaging Het
Hsf5 T A 11: 87,528,995 (GRCm39) S577T probably benign Het
Ice2 A G 9: 69,307,809 (GRCm39) Y31C probably damaging Het
Ift80 A T 3: 68,822,116 (GRCm39) I643N possibly damaging Het
Iglon5 A T 7: 43,126,064 (GRCm39) D222E probably benign Het
Ilvbl C A 10: 78,412,430 (GRCm39) S50R probably damaging Het
Invs C A 4: 48,421,942 (GRCm39) S858* probably null Het
Ipo13 T G 4: 117,761,592 (GRCm39) T508P probably damaging Het
Itgb4 T C 11: 115,885,163 (GRCm39) I1015T probably benign Het
Kank4 A T 4: 98,668,175 (GRCm39) W91R probably damaging Het
Kansl1l C T 1: 66,760,063 (GRCm39) A906T probably benign Het
Klk4 G A 7: 43,534,706 (GRCm39) V222M probably damaging Het
Lipo4 T A 19: 33,476,741 (GRCm39) M336L probably benign Het
Lrig1 T C 6: 94,583,111 (GRCm39) N1002D probably benign Het
Lzts3 A G 2: 130,477,219 (GRCm39) S524P probably damaging Het
Maz A T 7: 126,622,324 (GRCm39) C409* probably null Het
Mmp24 A T 2: 155,656,047 (GRCm39) Q495L possibly damaging Het
Mrgpra9 C T 7: 46,885,050 (GRCm39) V206I possibly damaging Het
Myof A G 19: 37,983,933 (GRCm39) Y124H probably damaging Het
Nalcn A T 14: 123,551,517 (GRCm39) V1030D probably damaging Het
Neb T A 2: 52,150,544 (GRCm39) I2495F probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nrbf2 G A 10: 67,103,605 (GRCm39) T166M probably damaging Het
Nup153 T C 13: 46,842,657 (GRCm39) D837G probably damaging Het
Nup210 C A 6: 91,052,942 (GRCm39) G331V probably damaging Het
Or5b97 T C 19: 12,878,320 (GRCm39) T275A probably benign Het
Or5w18 T C 2: 87,633,480 (GRCm39) L245P probably damaging Het
Or6z7 A G 7: 6,484,008 (GRCm39) probably null Het
Or8b56 T A 9: 38,739,634 (GRCm39) S210T probably benign Het
Pabpc4 T A 4: 123,182,852 (GRCm39) L163H probably damaging Het
Pcdh7 T A 5: 57,878,882 (GRCm39) Y126* probably null Het
Pdzd2 A G 15: 12,385,525 (GRCm39) S1082P probably benign Het
Pkd2l1 T C 19: 44,138,902 (GRCm39) I649M probably benign Het
Plcl2 G A 17: 50,914,757 (GRCm39) E589K probably damaging Het
Plppr1 C A 4: 49,337,674 (GRCm39) T325N possibly damaging Het
Prss8 GCTGCCCAAGTCCC GC 7: 127,529,021 (GRCm39) probably benign Het
Ptcd2 A G 13: 99,481,105 (GRCm39) S25P probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rusc2 T A 4: 43,416,137 (GRCm39) V481E probably damaging Het
Sephs2 G T 7: 126,872,139 (GRCm39) T318K probably damaging Het
Sf3b1 T A 1: 55,042,313 (GRCm39) I497L probably damaging Het
Slc30a7 C T 3: 115,750,519 (GRCm39) probably null Het
Slc66a2 T G 18: 80,326,529 (GRCm39) S126A probably benign Het
Smarca2 T C 19: 26,608,228 (GRCm39) S96P probably damaging Het
Spata31d1c A C 13: 65,184,368 (GRCm39) I637L probably benign Het
Ston2 A T 12: 91,707,266 (GRCm39) S115T probably damaging Het
Tal2 A C 4: 53,785,999 (GRCm39) E60A probably benign Het
Tdpoz3 A T 3: 93,733,447 (GRCm39) T41S probably benign Het
Tent4b T A 8: 88,969,937 (GRCm39) M203K possibly damaging Het
Tespa1 T C 10: 130,196,560 (GRCm39) I166T probably benign Het
Thsd7a A T 6: 12,555,438 (GRCm39) C149S probably damaging Het
Trav6-1 T A 14: 52,875,967 (GRCm39) probably benign Het
Txnl4a T C 18: 80,250,479 (GRCm39) V25A probably benign Het
Utp4 C A 8: 107,632,908 (GRCm39) P297Q probably benign Het
Vmn1r34 T C 6: 66,613,922 (GRCm39) Y272C probably damaging Het
Vmn2r112 A T 17: 22,837,467 (GRCm39) I643F probably damaging Het
Vmn2r121 C A X: 123,037,837 (GRCm39) G728W probably damaging Het
Vmn2r24 T A 6: 123,763,692 (GRCm39) S190T probably damaging Het
Zfp507 A G 7: 35,475,435 (GRCm39) V926A possibly damaging Het
Other mutations in Galntl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Galntl6 APN 8 58,310,574 (GRCm39) missense probably damaging 1.00
IGL00557:Galntl6 APN 8 59,364,451 (GRCm39) missense possibly damaging 0.71
IGL01140:Galntl6 APN 8 58,411,356 (GRCm39) missense probably damaging 1.00
IGL01412:Galntl6 APN 8 58,230,328 (GRCm39) missense probably damaging 0.99
IGL01458:Galntl6 APN 8 58,880,743 (GRCm39) missense probably damaging 1.00
IGL01575:Galntl6 APN 8 58,880,710 (GRCm39) intron probably benign
IGL01700:Galntl6 APN 8 58,411,494 (GRCm39) splice site probably benign
IGL01710:Galntl6 APN 8 58,989,002 (GRCm39) missense probably damaging 0.97
IGL02611:Galntl6 APN 8 58,411,450 (GRCm39) missense probably damaging 1.00
IGL02880:Galntl6 APN 8 58,257,306 (GRCm39) missense probably benign 0.44
IGL03129:Galntl6 APN 8 58,880,750 (GRCm39) missense probably damaging 1.00
IGL03215:Galntl6 APN 8 59,364,436 (GRCm39) missense probably benign 0.00
IGL03249:Galntl6 APN 8 58,230,210 (GRCm39) utr 3 prime probably benign
Fragilistic UTSW 8 58,989,018 (GRCm39) missense probably benign
Indubitably UTSW 8 58,880,804 (GRCm39) missense probably damaging 1.00
PIT4677001:Galntl6 UTSW 8 58,310,621 (GRCm39) missense probably damaging 1.00
R0600:Galntl6 UTSW 8 58,290,217 (GRCm39) splice site probably null
R0731:Galntl6 UTSW 8 58,989,018 (GRCm39) missense probably benign
R0961:Galntl6 UTSW 8 59,364,374 (GRCm39) missense probably benign
R2137:Galntl6 UTSW 8 58,988,939 (GRCm39) critical splice donor site probably null
R4632:Galntl6 UTSW 8 58,880,857 (GRCm39) missense probably damaging 1.00
R4731:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4732:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4733:Galntl6 UTSW 8 58,880,847 (GRCm39) missense probably damaging 1.00
R4920:Galntl6 UTSW 8 58,880,807 (GRCm39) missense probably damaging 0.97
R4964:Galntl6 UTSW 8 59,152,945 (GRCm39) intron probably benign
R5357:Galntl6 UTSW 8 58,337,497 (GRCm39) missense probably damaging 0.99
R5526:Galntl6 UTSW 8 58,926,004 (GRCm39) missense probably benign
R5951:Galntl6 UTSW 8 58,415,436 (GRCm39) missense probably benign 0.06
R5965:Galntl6 UTSW 8 58,310,565 (GRCm39) missense probably benign 0.03
R6260:Galntl6 UTSW 8 58,337,515 (GRCm39) missense probably damaging 1.00
R6368:Galntl6 UTSW 8 59,364,475 (GRCm39) missense probably damaging 1.00
R6695:Galntl6 UTSW 8 58,880,804 (GRCm39) missense probably damaging 1.00
R7593:Galntl6 UTSW 8 58,230,293 (GRCm39) missense probably damaging 1.00
R7780:Galntl6 UTSW 8 58,880,733 (GRCm39) critical splice donor site probably null
R7833:Galntl6 UTSW 8 58,310,571 (GRCm39) missense probably benign
R7871:Galntl6 UTSW 8 58,290,222 (GRCm39) missense probably damaging 0.98
R8097:Galntl6 UTSW 8 58,415,407 (GRCm39) splice site probably null
R8891:Galntl6 UTSW 8 58,415,433 (GRCm39) missense probably damaging 1.00
R9177:Galntl6 UTSW 8 58,310,590 (GRCm39) nonsense probably null
R9196:Galntl6 UTSW 8 58,415,461 (GRCm39) missense probably damaging 1.00
R9384:Galntl6 UTSW 8 58,415,461 (GRCm39) missense probably damaging 1.00
R9454:Galntl6 UTSW 8 58,411,435 (GRCm39) missense probably damaging 0.99
R9474:Galntl6 UTSW 8 58,230,359 (GRCm39) missense probably damaging 0.99
R9482:Galntl6 UTSW 8 58,310,549 (GRCm39) critical splice donor site probably null
R9497:Galntl6 UTSW 8 58,290,410 (GRCm39) missense probably damaging 0.99
Z1176:Galntl6 UTSW 8 58,310,592 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGATGCCCTTTTGGGCAGATCTTT -3'
(R):5'- CATCCACATGCAGGTACACTTACATACA -3'

Sequencing Primer
(F):5'- TCTGCTGTCCTAAACTAAATCACC -3'
(R):5'- GTAATGCATATGAGAAA -3'
Posted On 2014-03-17