Incidental Mutation 'IGL01293:Mgat4c'
ID 72999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat4c
Ensembl Gene ENSMUSG00000019888
Gene Name MGAT4 family, member C
Synonyms 9130411I17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01293
Quality Score
Status
Chromosome 10
Chromosomal Location 101517348-102227330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102224086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 100 (Y100F)
Ref Sequence ENSEMBL: ENSMUSP00000118056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020039] [ENSMUST00000120748] [ENSMUST00000127504] [ENSMUST00000138522] [ENSMUST00000156751] [ENSMUST00000163753] [ENSMUST00000179929] [ENSMUST00000219195]
AlphaFold Q9D306
Predicted Effect probably benign
Transcript: ENSMUST00000020039
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: Y100F

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Pfam:Glyco_transf_54 44 330 5.3e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120748
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: Y100F

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Pfam:Glyco_transf_54 44 330 5.3e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127504
SMART Domains Protein: ENSMUSP00000117148
Gene: ENSMUSG00000019888

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138522
AA Change: Y100F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888
AA Change: Y100F

DomainStartEndE-ValueType
low complexity region 26 38 N/A INTRINSIC
Pfam:Glyco_transf_54 43 150 1.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156751
SMART Domains Protein: ENSMUSP00000116216
Gene: ENSMUSG00000019888

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163753
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: Y100F

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Pfam:Glyco_transf_54 44 330 5.3e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179929
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: Y100F

DomainStartEndE-ValueType
transmembrane domain 26 43 N/A INTRINSIC
Pfam:Glyco_transf_54 52 330 1.1e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219195
AA Change: Y100F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Tram1l1 T C 3: 124,115,788 (GRCm39) V316A probably benign Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Mgat4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Mgat4c APN 10 102,224,581 (GRCm39) missense probably damaging 1.00
IGL01394:Mgat4c APN 10 102,220,975 (GRCm39) missense possibly damaging 0.62
IGL01525:Mgat4c APN 10 102,214,057 (GRCm39) missense probably damaging 0.97
IGL02023:Mgat4c APN 10 102,214,045 (GRCm39) nonsense probably null
IGL02150:Mgat4c APN 10 102,224,983 (GRCm39) missense probably benign 0.08
IGL02296:Mgat4c APN 10 102,221,021 (GRCm39) splice site probably benign
IGL02946:Mgat4c APN 10 102,225,114 (GRCm39) missense probably benign 0.14
IGL03062:Mgat4c APN 10 102,224,322 (GRCm39) missense probably damaging 1.00
R0001:Mgat4c UTSW 10 102,224,817 (GRCm39) missense probably benign 0.01
R0326:Mgat4c UTSW 10 102,224,565 (GRCm39) missense probably damaging 1.00
R0480:Mgat4c UTSW 10 102,224,980 (GRCm39) missense probably damaging 0.97
R0656:Mgat4c UTSW 10 102,224,452 (GRCm39) missense probably damaging 1.00
R0746:Mgat4c UTSW 10 102,224,548 (GRCm39) missense probably damaging 1.00
R1639:Mgat4c UTSW 10 102,214,142 (GRCm39) missense probably damaging 1.00
R1989:Mgat4c UTSW 10 102,214,020 (GRCm39) start codon destroyed probably null 0.66
R2148:Mgat4c UTSW 10 102,224,790 (GRCm39) missense probably benign
R2437:Mgat4c UTSW 10 102,224,436 (GRCm39) missense probably damaging 1.00
R2567:Mgat4c UTSW 10 102,214,123 (GRCm39) missense probably benign 0.38
R3780:Mgat4c UTSW 10 102,224,782 (GRCm39) missense probably benign 0.25
R3781:Mgat4c UTSW 10 102,224,782 (GRCm39) missense probably benign 0.25
R3782:Mgat4c UTSW 10 102,224,782 (GRCm39) missense probably benign 0.25
R3786:Mgat4c UTSW 10 102,220,931 (GRCm39) missense probably damaging 1.00
R3806:Mgat4c UTSW 10 102,224,221 (GRCm39) missense probably benign 0.10
R4596:Mgat4c UTSW 10 102,224,422 (GRCm39) missense probably damaging 1.00
R4718:Mgat4c UTSW 10 102,224,467 (GRCm39) missense probably damaging 1.00
R4740:Mgat4c UTSW 10 102,224,265 (GRCm39) missense probably damaging 1.00
R4872:Mgat4c UTSW 10 102,224,599 (GRCm39) missense probably damaging 1.00
R5305:Mgat4c UTSW 10 102,225,140 (GRCm39) missense possibly damaging 0.82
R5740:Mgat4c UTSW 10 102,225,182 (GRCm39) missense possibly damaging 0.49
R5841:Mgat4c UTSW 10 102,224,826 (GRCm39) missense probably damaging 0.98
R6367:Mgat4c UTSW 10 102,221,015 (GRCm39) critical splice donor site probably null
R6459:Mgat4c UTSW 10 102,220,988 (GRCm39) missense probably damaging 1.00
R7021:Mgat4c UTSW 10 102,224,289 (GRCm39) missense possibly damaging 0.82
R7122:Mgat4c UTSW 10 102,214,070 (GRCm39) nonsense probably null
R7146:Mgat4c UTSW 10 102,224,357 (GRCm39) missense probably damaging 1.00
R7629:Mgat4c UTSW 10 102,224,931 (GRCm39) missense probably benign 0.03
R7877:Mgat4c UTSW 10 102,220,900 (GRCm39) missense probably benign 0.00
R8829:Mgat4c UTSW 10 102,214,084 (GRCm39) missense probably damaging 1.00
R8872:Mgat4c UTSW 10 102,224,146 (GRCm39) missense probably damaging 1.00
R9181:Mgat4c UTSW 10 102,225,123 (GRCm39) missense probably benign 0.14
RF020:Mgat4c UTSW 10 102,224,928 (GRCm39) missense probably benign
X0020:Mgat4c UTSW 10 102,224,251 (GRCm39) missense possibly damaging 0.67
Z1177:Mgat4c UTSW 10 102,224,463 (GRCm39) missense probably damaging 1.00
Z1177:Mgat4c UTSW 10 102,224,311 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07