Incidental Mutation 'R4632:Galntl6'
ID 349280
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 041897-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4632 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 58227086-59365674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58880857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 99 (I99F)
Ref Sequence ENSEMBL: ENSMUSP00000139677 (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: I99F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139677
Gene: ENSMUSG00000096914
AA Change: I99F

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 98 139 2.4e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204128
AA Change: I144F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914
AA Change: I144F

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,283,447 (GRCm39) V44A probably benign Het
Abr C T 11: 76,399,845 (GRCm39) G39R probably benign Het
Adora2b TGGACCACTCCAGGACCACTC TGGACCACTC 11: 62,156,208 (GRCm39) probably null Het
Agbl1 A G 7: 76,063,433 (GRCm39) T47A probably benign Het
Akap13 G T 7: 75,316,301 (GRCm39) A1389S possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankar T A 1: 72,686,343 (GRCm39) T1286S probably benign Het
Ankrd13c A G 3: 157,667,939 (GRCm39) H166R probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Arl16 A G 11: 120,356,610 (GRCm39) S130P probably damaging Het
Atp10a A T 7: 58,457,186 (GRCm39) Q895L possibly damaging Het
Atp13a5 T A 16: 29,167,537 (GRCm39) R138W probably damaging Het
Auts2 G A 5: 131,501,113 (GRCm39) T309M probably damaging Het
C6 A T 15: 4,789,350 (GRCm39) K265I probably benign Het
Casz1 A G 4: 149,036,312 (GRCm39) T1525A possibly damaging Het
Cd200l1 T G 16: 45,238,271 (GRCm39) H181P probably benign Het
Chpf2 A G 5: 24,796,829 (GRCm39) T592A probably benign Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Cmip A G 8: 118,174,150 (GRCm39) Y410C possibly damaging Het
Csmd3 A G 15: 47,874,605 (GRCm39) C560R probably damaging Het
Dchs1 T A 7: 105,403,562 (GRCm39) E2993D probably benign Het
Dnah7a A G 1: 53,467,110 (GRCm39) F3585L probably damaging Het
Dspp A G 5: 104,325,272 (GRCm39) D545G unknown Het
Dusp7 T A 9: 106,247,965 (GRCm39) S198T possibly damaging Het
Ell2 A T 13: 75,917,693 (GRCm39) Q541L possibly damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Gnat3 G A 5: 18,220,364 (GRCm39) probably null Het
Hykk T C 9: 54,853,800 (GRCm39) I374T probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt2 A G 1: 140,450,886 (GRCm39) I722V possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt13 A G 11: 100,012,050 (GRCm39) L91P possibly damaging Het
Krtap4-13 A C 11: 99,700,354 (GRCm39) S102A unknown Het
Lrp2 A G 2: 69,319,473 (GRCm39) probably null Het
Lrriq1 C T 10: 103,057,288 (GRCm39) V171I probably damaging Het
Map3k4 C G 17: 12,451,391 (GRCm39) E1501Q probably damaging Het
Mapk11 C T 15: 89,030,579 (GRCm39) V105M probably damaging Het
Mlph G A 1: 90,867,108 (GRCm39) A377T probably damaging Het
Myo9a G A 9: 59,776,947 (GRCm39) C1115Y probably benign Het
Nabp1 A T 1: 51,513,761 (GRCm39) Y78* probably null Het
Nos2 T C 11: 78,848,417 (GRCm39) F1108S possibly damaging Het
Oas2 T C 5: 120,871,546 (GRCm39) K699R probably benign Het
Olfm5 T C 7: 103,810,100 (GRCm39) D87G probably benign Het
Oog3 A G 4: 143,884,698 (GRCm39) F413L probably benign Het
Or2c1 C T 16: 3,656,951 (GRCm39) T38M probably damaging Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pkhd1l1 A G 15: 44,347,796 (GRCm39) T224A probably benign Het
Pknox2 A G 9: 36,805,709 (GRCm39) S367P probably benign Het
Ppfia2 A G 10: 106,671,905 (GRCm39) probably null Het
Ppm1e G A 11: 87,122,356 (GRCm39) P534S probably damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Ptpn13 A G 5: 103,717,726 (GRCm39) N1924S possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Samd12 T A 15: 53,583,067 (GRCm39) H89L possibly damaging Het
Sephs1 T A 2: 4,901,571 (GRCm39) V211E probably benign Het
Setx C T 2: 29,038,627 (GRCm39) T1704I probably benign Het
Sltm T C 9: 70,486,651 (GRCm39) S439P possibly damaging Het
Sort1 G T 3: 108,253,994 (GRCm39) Q553H probably damaging Het
Svs5 G T 2: 164,079,667 (GRCm39) T80N probably benign Het
Tanc1 C A 2: 59,626,179 (GRCm39) T512K probably damaging Het
Tas2r139 T A 6: 42,118,432 (GRCm39) V188E probably damaging Het
Tesk2 C T 4: 116,598,909 (GRCm39) R6W probably benign Het
Tex101 G T 7: 24,367,793 (GRCm39) C186* probably null Het
Timp2 C T 11: 118,194,598 (GRCm39) S197N probably benign Het
Tmem37 A T 1: 119,995,979 (GRCm39) C33S probably damaging Het
Tmem69 T C 4: 116,410,235 (GRCm39) D245G probably benign Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Ush2a T A 1: 188,128,071 (GRCm39) N694K possibly damaging Het
Utp20 A G 10: 88,614,123 (GRCm39) V1277A probably damaging Het
Vmn2r100 C T 17: 19,752,216 (GRCm39) S753F probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zap70 G T 1: 36,817,539 (GRCm39) A261S probably benign Het
Zdhhc6 A G 19: 55,302,741 (GRCm39) W87R probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp462 T C 4: 55,012,981 (GRCm39) F501S probably 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
R1381:Galntl6 UTSW 8 58,925,989 (GRCm39) missense probably damaging 0.99
R2137:Galntl6 UTSW 8 58,988,939 (GRCm39) critical splice donor site probably null
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'- TGCACAATCAAAGTTCCAATGG -3'
(R):5'- ATGCCTGGGTTGGAAAATAGTAC -3'

Sequencing Primer
(F):5'- CTTTTCAAAAAGCCCATCATGATGG -3'
(R):5'- TGGGTTGGAAAATAGTACACAAATCC -3'
Posted On 2015-10-08