Incidental Mutation 'R2148:Mgat4f'
ID 233979
Institutional Source Beutler Lab
Gene Symbol Mgat4f
Ensembl Gene ENSMUSG00000050526
Gene Name MGAT4 family, member F
Synonyms 4933406M09Rik
MMRRC Submission 040151-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2148 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134313678-134318719 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134318251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 341 (M341K)
Ref Sequence ENSEMBL: ENSMUSP00000124251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162187]
AlphaFold G3XA12
Predicted Effect probably damaging
Transcript: ENSMUST00000162187
AA Change: M341K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: M341K

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 52 326 7.6e-79 PFAM
low complexity region 395 405 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI

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

 

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,302,647 (GRCm39) V2191L probably benign Het
Abca13 A G 11: 9,565,764 (GRCm39) Y4796C probably damaging Het
Actn2 A T 13: 12,315,835 (GRCm39) M228K probably damaging Het
Agbl1 T G 7: 76,064,465 (GRCm39) probably null Het
Ahi1 T G 10: 20,846,875 (GRCm39) V435G possibly damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Arhgap6 A G X: 167,579,496 (GRCm39) T94A probably benign Het
Atg4c C A 4: 99,109,463 (GRCm39) N143K possibly damaging Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
Bop1 A G 15: 76,339,487 (GRCm39) V286A probably damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cacna1a A T 8: 85,356,304 (GRCm39) Q1887L possibly damaging Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Cnot2 A G 10: 116,342,185 (GRCm39) I173T probably benign Het
Cntnap5b T A 1: 100,311,199 (GRCm39) I564N probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp2j11 G A 4: 96,204,595 (GRCm39) T317I probably damaging Het
Dcaf8l T C X: 88,449,883 (GRCm39) D82G possibly damaging Het
Dennd3 A T 15: 73,426,909 (GRCm39) H762L probably benign Het
Dgkd T G 1: 87,809,643 (GRCm39) N110K probably damaging Het
Dhx8 A T 11: 101,629,203 (GRCm39) R198* probably null Het
Dnah8 A T 17: 30,956,232 (GRCm39) I2071F probably damaging Het
Dsc3 C T 18: 20,098,695 (GRCm39) R828Q probably damaging Het
Fbxl4 T C 4: 22,427,333 (GRCm39) F525L possibly damaging Het
Glb1 T C 9: 114,279,716 (GRCm39) Y375H probably damaging Het
Gpatch1 A G 7: 34,998,701 (GRCm39) V343A probably benign Het
Gpr139 A G 7: 118,744,192 (GRCm39) V131A probably benign Het
Hamp T C 7: 30,642,137 (GRCm39) T34A possibly damaging Het
Homer2 T G 7: 81,274,043 (GRCm39) D51A possibly damaging Het
Hspa1l C T 17: 35,196,366 (GRCm39) A135V probably damaging Het
Igsf10 A G 3: 59,243,998 (GRCm39) M112T possibly damaging Het
Ikbkb A T 8: 23,172,761 (GRCm39) L153Q probably damaging Het
Kif19a A T 11: 114,671,594 (GRCm39) I158F probably damaging Het
L1cam A T X: 72,904,747 (GRCm39) F536Y probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Llcfc1 G A 6: 41,662,155 (GRCm39) G53D possibly damaging Het
Loxl4 A G 19: 42,592,631 (GRCm39) probably null Het
Magee1 A T X: 104,166,564 (GRCm39) D783V probably damaging Het
Mak T C 13: 41,195,513 (GRCm39) K400R probably benign Het
Mgat4c T C 10: 102,224,790 (GRCm39) F335L probably benign Het
Mospd2 A G X: 163,739,473 (GRCm39) probably null Het
Mtor T C 4: 148,540,469 (GRCm39) F245L possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo5a T A 9: 75,087,429 (GRCm39) L1095H probably damaging Het
Nlrp1a T A 11: 71,013,733 (GRCm39) K506* probably null Het
Or5d18 C A 2: 87,864,943 (GRCm39) C180F probably damaging Het
Parvb A G 15: 84,116,369 (GRCm39) K33E possibly damaging Het
Phkb A G 8: 86,744,115 (GRCm39) D588G probably damaging Het
Pkd1l2 A T 8: 117,783,064 (GRCm39) I752N probably damaging Het
Pkhd1 C A 1: 20,484,444 (GRCm39) probably null Het
Plod3 C T 5: 137,016,627 (GRCm39) R30* probably null Het
Ppfia4 T C 1: 134,240,372 (GRCm39) I591V probably benign Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Ptgs2 G T 1: 149,981,465 (GRCm39) A583S probably benign Het
Pycr2 T C 1: 180,734,413 (GRCm39) V231A probably damaging Het
Ralgapa2 T C 2: 146,273,807 (GRCm39) D540G probably benign Het
Rasal1 T A 5: 120,800,096 (GRCm39) I150N probably damaging Het
Rimkla T A 4: 119,331,779 (GRCm39) M140L possibly damaging Het
Sacs T C 14: 61,410,827 (GRCm39) L34P probably damaging Het
Sema3d A G 5: 12,534,926 (GRCm39) Y106C probably damaging Het
Serpinb8 T A 1: 107,533,657 (GRCm39) D237E probably benign Het
Slc19a2 T C 1: 164,089,657 (GRCm39) W158R probably damaging Het
Sorbs1 A T 19: 40,365,268 (GRCm39) F172I possibly damaging Het
Spaca7 A T 8: 12,636,447 (GRCm39) D91V probably damaging Het
Tead3 A G 17: 28,552,638 (GRCm39) F187L probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmem131 C A 1: 36,851,690 (GRCm39) V938L probably benign Het
Tmem132c T A 5: 127,540,026 (GRCm39) W351R probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Trap1 T C 16: 3,878,624 (GRCm39) D236G probably damaging Het
Trim45 T A 3: 100,839,360 (GRCm39) L754* probably null Het
Tubgcp5 A G 7: 55,449,259 (GRCm39) E152G probably damaging Het
Uaca A T 9: 60,776,961 (GRCm39) L447F probably damaging Het
Vps51 A G 19: 6,118,164 (GRCm39) V777A probably benign Het
Wdr11 A G 7: 129,230,807 (GRCm39) probably null Het
Zfp462 T A 4: 55,013,670 (GRCm39) S1879T probably benign Het
Zfr2 T G 10: 81,077,950 (GRCm39) V259G probably benign 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
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
R4543:Mgat4f UTSW 1 134,317,531 (GRCm39) missense probably benign 0.31
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'- AGGACATTCCCACTCACTTGC -3'
(R):5'- GTATTCCATGGGGCTGTAGC -3'

Sequencing Primer
(F):5'- GCTTCTCTCTGAGTTCAGGC -3'
(R):5'- GTAGCCCAGTAATAGTTGCCCATG -3'
Posted On 2014-10-01