Incidental Mutation 'R1321:Galnt18'
ID 157682
Institutional Source Beutler Lab
Gene Symbol Galnt18
Ensembl Gene ENSMUSG00000038296
Gene Name polypeptide N-acetylgalactosaminyltransferase 18
Synonyms Galntl4, 2900011G21Rik
MMRRC Submission 039387-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1321 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 111070868-111379184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111378639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 39 (V39E)
Ref Sequence ENSEMBL: ENSMUSP00000102274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049430] [ENSMUST00000106663]
AlphaFold Q8K1B9
Predicted Effect probably benign
Transcript: ENSMUST00000049430
AA Change: V39E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000043636
Gene: ENSMUSG00000038296
AA Change: V39E

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 128 141 N/A INTRINSIC
Pfam:Glycos_transf_2 157 345 1.1e-25 PFAM
RICIN 485 614 8.3e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106663
AA Change: V39E

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102274
Gene: ENSMUSG00000038296
AA Change: V39E

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 79 91 N/A INTRINSIC
low complexity region 128 141 N/A INTRINSIC
Pfam:Glycos_transf_2 157 344 1.4e-23 PFAM
RICIN 470 599 8.3e-6 SMART
Meta Mutation Damage Score 0.2835 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,945,318 (GRCm39) probably benign Het
Aco2 C T 15: 81,779,394 (GRCm39) S33L probably damaging Het
C2cd2l A G 9: 44,228,878 (GRCm39) probably null Het
Cass4 T A 2: 172,266,572 (GRCm39) L205Q probably benign Het
Ccn3 G T 15: 54,612,642 (GRCm39) C217F probably damaging Het
Celsr3 G A 9: 108,713,069 (GRCm39) D1834N probably damaging Het
Col12a1 A T 9: 79,524,991 (GRCm39) C2723* probably null Het
Cps1 A G 1: 67,182,178 (GRCm39) probably benign Het
Dolpp1 A G 2: 30,285,748 (GRCm39) I49V possibly damaging Het
Dppa2 A G 16: 48,131,999 (GRCm39) E32G possibly damaging Het
Eif2b5 C T 16: 20,323,439 (GRCm39) R397* probably null Het
Far2 G T 6: 148,075,034 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,895,160 (GRCm39) T41I probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Galnt13 G A 2: 54,988,606 (GRCm39) R476Q probably damaging Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21954 C T 3: 55,379,627 (GRCm39) probably benign Het
Lct A C 1: 128,227,759 (GRCm39) L1245V probably benign Het
Lgr5 T C 10: 115,314,362 (GRCm39) T192A probably damaging Het
Mrpl42 C T 10: 95,329,573 (GRCm39) V46M probably damaging Het
Mybpc1 C T 10: 88,365,403 (GRCm39) V907M possibly damaging Het
Mybpc1 T A 10: 88,406,463 (GRCm39) Y127F probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Otud4 T C 8: 80,396,579 (GRCm39) S613P probably benign Het
P2ry12 T C 3: 59,124,646 (GRCm39) E343G possibly damaging Het
Pbrm1 A C 14: 30,789,459 (GRCm39) K670T probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Reg3b A G 6: 78,349,936 (GRCm39) probably null Het
Sppl3 TGG TG 5: 115,226,352 (GRCm39) probably null Het
Ssr2 T C 3: 88,484,261 (GRCm39) probably benign Het
Syne3 A C 12: 104,942,055 (GRCm39) V29G probably benign Het
Ubr4 T C 4: 139,187,434 (GRCm39) V3834A possibly damaging Het
Vmn2r112 C T 17: 22,837,500 (GRCm39) Q654* probably null Het
Vmn2r14 C T 5: 109,364,117 (GRCm39) V600I probably benign Het
Zfp251 C T 15: 76,738,436 (GRCm39) R219Q possibly damaging Het
Other mutations in Galnt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Galnt18 APN 7 111,071,202 (GRCm39) missense probably damaging 1.00
IGL03110:Galnt18 APN 7 111,147,920 (GRCm39) missense probably benign 0.01
IGL03263:Galnt18 APN 7 111,119,321 (GRCm39) missense probably damaging 1.00
R0013:Galnt18 UTSW 7 111,153,664 (GRCm39) missense probably damaging 1.00
R0013:Galnt18 UTSW 7 111,153,664 (GRCm39) missense probably damaging 1.00
R0141:Galnt18 UTSW 7 111,198,238 (GRCm39) missense probably damaging 1.00
R0471:Galnt18 UTSW 7 111,378,506 (GRCm39) splice site probably benign
R0494:Galnt18 UTSW 7 111,153,771 (GRCm39) missense probably damaging 1.00
R0546:Galnt18 UTSW 7 111,107,348 (GRCm39) missense probably damaging 1.00
R0682:Galnt18 UTSW 7 111,119,222 (GRCm39) missense probably damaging 1.00
R0938:Galnt18 UTSW 7 111,119,206 (GRCm39) missense possibly damaging 0.85
R1457:Galnt18 UTSW 7 111,378,635 (GRCm39) nonsense probably null
R1656:Galnt18 UTSW 7 111,215,699 (GRCm39) splice site probably benign
R2077:Galnt18 UTSW 7 111,153,809 (GRCm39) missense probably damaging 1.00
R2567:Galnt18 UTSW 7 111,153,823 (GRCm39) missense probably damaging 1.00
R3788:Galnt18 UTSW 7 111,119,322 (GRCm39) nonsense probably null
R4835:Galnt18 UTSW 7 111,378,730 (GRCm39) missense probably damaging 0.99
R4962:Galnt18 UTSW 7 111,071,271 (GRCm39) missense probably benign 0.10
R6125:Galnt18 UTSW 7 111,084,400 (GRCm39) missense probably damaging 0.96
R6216:Galnt18 UTSW 7 111,112,757 (GRCm39) missense probably benign 0.39
R7075:Galnt18 UTSW 7 111,155,595 (GRCm39) missense possibly damaging 0.63
R7831:Galnt18 UTSW 7 111,155,665 (GRCm39) missense possibly damaging 0.79
R8728:Galnt18 UTSW 7 111,119,243 (GRCm39) missense probably damaging 1.00
R8729:Galnt18 UTSW 7 111,119,198 (GRCm39) missense probably null 0.90
R8888:Galnt18 UTSW 7 111,378,709 (GRCm39) missense possibly damaging 0.84
R8895:Galnt18 UTSW 7 111,378,709 (GRCm39) missense possibly damaging 0.84
R9330:Galnt18 UTSW 7 111,071,271 (GRCm39) missense probably benign 0.10
R9448:Galnt18 UTSW 7 111,153,649 (GRCm39) missense probably damaging 1.00
R9746:Galnt18 UTSW 7 111,071,168 (GRCm39) missense possibly damaging 0.90
RF017:Galnt18 UTSW 7 111,198,221 (GRCm39) missense probably damaging 1.00
Z1177:Galnt18 UTSW 7 111,084,358 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTCAAGTTTCTCAGGACGC -3'
(R):5'- TGACAAAGTTTCCCAGCCCTGC -3'

Sequencing Primer
(F):5'- ACGCCTGTACCTTGGATATG -3'
(R):5'- CCGCCTTTGGAGAGACTTAG -3'
Posted On 2014-02-18