Incidental Mutation 'R0583:Mrgbp'
ID 56494
Institutional Source Beutler Lab
Gene Symbol Mrgbp
Ensembl Gene ENSMUSG00000027569
Gene Name MRG/MORF4L binding protein
Synonyms 1600027N09Rik
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R0583 (G1)
Quality Score 163
Status Not validated
Chromosome 2
Chromosomal Location 180223097-180228097 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180226239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 104 (N104S)
Ref Sequence ENSEMBL: ENSMUSP00000127747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029085] [ENSMUST00000029087] [ENSMUST00000169630]
AlphaFold Q9DAT2
Predicted Effect probably benign
Transcript: ENSMUST00000029085
AA Change: N104S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029085
Gene: ENSMUSG00000027569
AA Change: N104S

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Eaf7 35 184 7e-18 PFAM
low complexity region 189 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000029087
SMART Domains Protein: ENSMUSP00000029087
Gene: ENSMUSG00000049401

DomainStartEndE-ValueType
low complexity region 7 40 N/A INTRINSIC
Pfam:OGFr_N 76 283 2.3e-111 PFAM
low complexity region 358 369 N/A INTRINSIC
internal_repeat_1 459 483 4.08e-5 PROSPERO
internal_repeat_1 576 600 4.08e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150757
Predicted Effect probably benign
Transcript: ENSMUST00000169630
AA Change: N104S

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127747
Gene: ENSMUSG00000027569
AA Change: N104S

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Eaf7 34 114 2.2e-27 PFAM
low complexity region 123 132 N/A INTRINSIC
low complexity region 155 167 N/A INTRINSIC
low complexity region 189 199 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cadm3 T G 1: 173,168,738 (GRCm39) T277P probably benign Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G probably damaging Het
Other mutations in Mrgbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Mrgbp APN 2 180,225,209 (GRCm39) missense probably damaging 0.99
IGL02927:Mrgbp APN 2 180,226,272 (GRCm39) missense probably damaging 1.00
R0003:Mrgbp UTSW 2 180,225,231 (GRCm39) missense probably benign 0.23
R1729:Mrgbp UTSW 2 180,227,242 (GRCm39) missense probably damaging 0.99
R1784:Mrgbp UTSW 2 180,227,242 (GRCm39) missense probably damaging 0.99
R2860:Mrgbp UTSW 2 180,225,203 (GRCm39) missense possibly damaging 0.78
R2861:Mrgbp UTSW 2 180,225,203 (GRCm39) missense possibly damaging 0.78
R2862:Mrgbp UTSW 2 180,225,203 (GRCm39) missense possibly damaging 0.78
R4616:Mrgbp UTSW 2 180,227,107 (GRCm39) synonymous silent
R5579:Mrgbp UTSW 2 180,227,276 (GRCm39) missense probably damaging 1.00
R7121:Mrgbp UTSW 2 180,224,682 (GRCm39) missense probably benign
R7409:Mrgbp UTSW 2 180,227,135 (GRCm39) missense possibly damaging 0.58
R8836:Mrgbp UTSW 2 180,224,712 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TCTGTATACTGTGGGAGCCAGACTC -3'
(R):5'- CATCAGGAGACTGCCTTTGAGCAC -3'

Sequencing Primer
(F):5'- GTACCCCTGGATACATTGGC -3'
(R):5'- GCCCTTGGCTCCCAAAAC -3'
Posted On 2013-07-11