Incidental Mutation 'IGL02946:Mgat4c'
ID 364756
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 # IGL02946
Quality Score
Status
Chromosome 10
Chromosomal Location 101517348-102227330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102225114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 443 (S443P)
Ref Sequence ENSEMBL: ENSMUSP00000135959 (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: S443P

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020039
Gene: ENSMUSG00000019888
AA Change: S443P

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: S443P

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114010
Gene: ENSMUSG00000019888
AA Change: S443P

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
SMART Domains Protein: ENSMUSP00000118056
Gene: ENSMUSG00000019888

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: S443P

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000131551
Gene: ENSMUSG00000019888
AA Change: S443P

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: S443P

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135959
Gene: ENSMUSG00000019888
AA Change: S443P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Mgat4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Mgat4c APN 10 102,224,581 (GRCm39) missense probably damaging 1.00
IGL01293:Mgat4c APN 10 102,224,086 (GRCm39) missense probably benign 0.00
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
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 2015-12-18