Incidental Mutation 'IGL01293:Mgat4c'
ID72999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgat4c
Ensembl Gene ENSMUSG00000019888
Gene NameMGAT4 family, member C
Synonyms9130411I17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01293
Quality Score
Status
Chromosome10
Chromosomal Location101681487-102391469 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102388225 bp
ZygosityHeterozygous
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]
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: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Cyp2d10 A T 15: 82,403,009 V471E possibly damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Mgat4c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Mgat4c APN 10 102388720 missense probably damaging 1.00
IGL01394:Mgat4c APN 10 102385114 missense possibly damaging 0.62
IGL01525:Mgat4c APN 10 102378196 missense probably damaging 0.97
IGL02023:Mgat4c APN 10 102378184 nonsense probably null
IGL02150:Mgat4c APN 10 102389122 missense probably benign 0.08
IGL02296:Mgat4c APN 10 102385160 splice site probably benign
IGL02946:Mgat4c APN 10 102389253 missense probably benign 0.14
IGL03062:Mgat4c APN 10 102388461 missense probably damaging 1.00
R0001:Mgat4c UTSW 10 102388956 missense probably benign 0.01
R0326:Mgat4c UTSW 10 102388704 missense probably damaging 1.00
R0480:Mgat4c UTSW 10 102389119 missense probably damaging 0.97
R0656:Mgat4c UTSW 10 102388591 missense probably damaging 1.00
R0746:Mgat4c UTSW 10 102388687 missense probably damaging 1.00
R1639:Mgat4c UTSW 10 102378281 missense probably damaging 1.00
R1989:Mgat4c UTSW 10 102378159 start codon destroyed probably null 0.66
R2148:Mgat4c UTSW 10 102388929 missense probably benign
R2437:Mgat4c UTSW 10 102388575 missense probably damaging 1.00
R2567:Mgat4c UTSW 10 102378262 missense probably benign 0.38
R3780:Mgat4c UTSW 10 102388921 missense probably benign 0.25
R3781:Mgat4c UTSW 10 102388921 missense probably benign 0.25
R3782:Mgat4c UTSW 10 102388921 missense probably benign 0.25
R3786:Mgat4c UTSW 10 102385070 missense probably damaging 1.00
R3806:Mgat4c UTSW 10 102388360 missense probably benign 0.10
R4596:Mgat4c UTSW 10 102388561 missense probably damaging 1.00
R4718:Mgat4c UTSW 10 102388606 missense probably damaging 1.00
R4740:Mgat4c UTSW 10 102388404 missense probably damaging 1.00
R4872:Mgat4c UTSW 10 102388738 missense probably damaging 1.00
R5305:Mgat4c UTSW 10 102389279 missense possibly damaging 0.82
R5740:Mgat4c UTSW 10 102389321 missense possibly damaging 0.49
R5841:Mgat4c UTSW 10 102388965 missense probably damaging 0.98
R6367:Mgat4c UTSW 10 102385154 critical splice donor site probably null
R6459:Mgat4c UTSW 10 102385127 missense probably damaging 1.00
R7021:Mgat4c UTSW 10 102388428 missense possibly damaging 0.82
R7122:Mgat4c UTSW 10 102378209 nonsense probably null
R7146:Mgat4c UTSW 10 102388496 missense probably damaging 1.00
R7629:Mgat4c UTSW 10 102389070 missense probably benign 0.03
R7877:Mgat4c UTSW 10 102385039 missense probably benign 0.00
R7960:Mgat4c UTSW 10 102385039 missense probably benign 0.00
RF020:Mgat4c UTSW 10 102389067 missense probably benign
X0020:Mgat4c UTSW 10 102388390 missense possibly damaging 0.67
Z1177:Mgat4c UTSW 10 102388450 missense probably damaging 1.00
Z1177:Mgat4c UTSW 10 102388602 missense probably damaging 1.00
Posted On2013-10-07