Incidental Mutation 'R4543:Mgat4f'
ID 333610
Institutional Source Beutler Lab
Gene Symbol Mgat4f
Ensembl Gene ENSMUSG00000050526
Gene Name MGAT4 family, member F
Synonyms 4933406M09Rik
MMRRC Submission 041778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4543 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134313678-134318719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134317531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 101 (M101K)
Ref Sequence ENSEMBL: ENSMUSP00000124251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162187]
AlphaFold G3XA12
Predicted Effect probably benign
Transcript: ENSMUST00000162187
AA Change: M101K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: M101K

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 52 326 7.6e-79 PFAM
low complexity region 395 405 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 94% (44/47)
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

 

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,789,749 (GRCm39) S500T probably damaging Het
Abhd3 T C 18: 10,706,672 (GRCm39) D2G possibly damaging Het
Ablim1 C T 19: 57,065,874 (GRCm39) R366H possibly damaging Het
Adgre1 T A 17: 57,713,874 (GRCm39) H186Q probably benign Het
Ankmy1 G T 1: 92,812,572 (GRCm39) A579E probably damaging Het
Ap2b1 C A 11: 83,215,476 (GRCm39) T140K probably damaging Het
Arhgef28 T A 13: 98,211,508 (GRCm39) E158D probably benign Het
Atp8b4 A G 2: 126,199,986 (GRCm39) F885L probably damaging Het
Barx2 A G 9: 31,758,092 (GRCm39) L282S unknown Het
Catsper2 C T 2: 121,237,890 (GRCm39) W163* probably null Het
Cep295 T C 9: 15,246,549 (GRCm39) T588A possibly damaging Het
Chil3 T G 3: 106,067,686 (GRCm39) K160Q probably benign Het
Clca3a1 T A 3: 144,452,749 (GRCm39) Q578L probably damaging Het
Crp A C 1: 172,526,304 (GRCm39) I130L probably benign Het
Dtwd2 C A 18: 49,857,175 (GRCm39) probably null Het
Fads3 T C 19: 10,019,175 (GRCm39) F27S possibly damaging Het
Gm3604 T C 13: 62,517,970 (GRCm39) D109G probably benign Het
Gtf2ird1 A G 5: 134,392,754 (GRCm39) probably null Het
H2-K2 C T 17: 34,218,532 (GRCm39) probably null Het
Hdac5 T C 11: 102,104,770 (GRCm39) probably benign Het
Il6st G A 13: 112,617,993 (GRCm39) V136M probably damaging Het
Immt T C 6: 71,828,762 (GRCm39) S106P probably damaging Het
Kat2b T C 17: 53,960,168 (GRCm39) I492T probably benign Het
Kcnn2 T C 18: 45,692,715 (GRCm39) F97S probably benign Het
Kdm4c A G 4: 74,248,997 (GRCm39) I84V probably benign Het
Kif7 G A 7: 79,357,296 (GRCm39) P637S probably benign Het
Lrrcc1 T A 3: 14,604,851 (GRCm39) I109K probably damaging Het
Med12l T A 3: 58,998,929 (GRCm39) C619S probably damaging Het
Or8g51 A G 9: 38,608,841 (GRCm39) S274P possibly damaging Het
Polq T C 16: 36,881,147 (GRCm39) C1104R probably benign Het
Rbfox2 A T 15: 77,190,568 (GRCm39) M59K probably benign Het
Rft1 T C 14: 30,383,290 (GRCm39) V110A probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Slc2a12 T A 10: 22,540,685 (GRCm39) V180D probably damaging Het
Sox21 CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC CCAGCGGCGGCGGCGGCAGCGGC 14: 118,472,548 (GRCm39) probably benign Het
Stap2 C T 17: 56,304,604 (GRCm39) probably null Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tmem132c A G 5: 127,582,041 (GRCm39) T419A probably benign Het
Tmprss11a G A 5: 86,559,668 (GRCm39) Q375* probably null Het
Trav12-3 CTCTG CTCTGTCTG 14: 53,859,693 (GRCm39) probably null Het
Vmn1r88 T A 7: 12,911,907 (GRCm39) S88T possibly damaging Het
Zfp622 T A 15: 25,991,623 (GRCm39) D143E possibly damaging Het
Other mutations in Mgat4f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Mgat4f APN 1 134,317,696 (GRCm39) missense probably damaging 1.00
IGL01862:Mgat4f APN 1 134,318,349 (GRCm39) missense probably benign 0.03
P0005:Mgat4f UTSW 1 134,315,646 (GRCm39) missense probably benign 0.00
R0498:Mgat4f UTSW 1 134,318,610 (GRCm39) missense possibly damaging 0.69
R0563:Mgat4f UTSW 1 134,317,777 (GRCm39) missense probably benign 0.00
R0731:Mgat4f UTSW 1 134,317,713 (GRCm39) missense probably benign
R1558:Mgat4f UTSW 1 134,318,512 (GRCm39) missense probably damaging 1.00
R2146:Mgat4f UTSW 1 134,318,251 (GRCm39) missense probably damaging 1.00
R2148:Mgat4f UTSW 1 134,318,251 (GRCm39) missense probably damaging 1.00
R2901:Mgat4f UTSW 1 134,318,662 (GRCm39) missense probably damaging 0.99
R3897:Mgat4f UTSW 1 134,318,176 (GRCm39) missense possibly damaging 0.92
R4937:Mgat4f UTSW 1 134,317,714 (GRCm39) missense probably benign 0.00
R5490:Mgat4f UTSW 1 134,317,666 (GRCm39) missense probably damaging 1.00
R5684:Mgat4f UTSW 1 134,317,660 (GRCm39) missense probably benign 0.04
R5823:Mgat4f UTSW 1 134,318,655 (GRCm39) missense probably damaging 0.98
R6488:Mgat4f UTSW 1 134,318,626 (GRCm39) missense probably damaging 1.00
R7177:Mgat4f UTSW 1 134,318,163 (GRCm39) missense probably benign 0.08
R7201:Mgat4f UTSW 1 134,318,206 (GRCm39) missense possibly damaging 0.69
R7671:Mgat4f UTSW 1 134,317,800 (GRCm39) missense probably benign 0.27
R7749:Mgat4f UTSW 1 134,318,250 (GRCm39) missense probably benign 0.45
R8385:Mgat4f UTSW 1 134,318,376 (GRCm39) missense probably benign 0.00
R9393:Mgat4f UTSW 1 134,318,596 (GRCm39) missense probably benign 0.02
Z1177:Mgat4f UTSW 1 134,317,896 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCATTCTAAAGAGAGCCTTAC -3'
(R):5'- AGACCTGAAATGTTGGCAACTG -3'

Sequencing Primer
(F):5'- TGAAGCTTCTCCCACCGAG -3'
(R):5'- ACCTGAAATGTTGGCAACTGTTTGG -3'
Posted On 2015-08-18