Incidental Mutation 'R4125:Myrip'
ID 315360
Institutional Source Beutler Lab
Gene Symbol Myrip
Ensembl Gene ENSMUSG00000041794
Gene Name myosin VIIA and Rab interacting protein
Synonyms A230081N12Rik, Slac2-c
MMRRC Submission 041633-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4125 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 120132996-120305167 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 120293764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 753 (S753*)
Ref Sequence ENSEMBL: ENSMUSP00000046891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048121]
AlphaFold Q8K3I4
Predicted Effect probably null
Transcript: ENSMUST00000048121
AA Change: S753*
SMART Domains Protein: ENSMUSP00000046891
Gene: ENSMUSG00000041794
AA Change: S753*

DomainStartEndE-ValueType
Pfam:FYVE_2 8 125 3.8e-46 PFAM
Pfam:Rab_eff_C 152 856 N/A PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,068,679 (GRCm39) C43S probably damaging Het
Adamts6 A T 13: 104,449,412 (GRCm39) Y274F probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Atm A C 9: 53,361,921 (GRCm39) L2732R probably damaging Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Bmpr1a T C 14: 34,156,690 (GRCm39) D112G probably benign Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Chuk T C 19: 44,088,613 (GRCm39) I121V probably null Het
Ctsr A T 13: 61,309,659 (GRCm39) D183E probably benign Het
Elp3 T C 14: 65,797,630 (GRCm39) E347G possibly damaging Het
Fhip1a A G 3: 85,572,690 (GRCm39) S988P possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Gramd2b T C 18: 56,618,296 (GRCm39) S199P probably damaging Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Ifit1bl1 T A 19: 34,572,188 (GRCm39) I90F probably damaging Het
Igf2r A T 17: 12,921,141 (GRCm39) H1313Q possibly damaging Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Kansl2 G T 15: 98,429,636 (GRCm39) P132Q possibly damaging Het
Lman1 T C 18: 66,120,932 (GRCm39) H430R possibly damaging Het
Lrrk2 T C 15: 91,699,686 (GRCm39) I2511T probably benign Het
Lvrn C A 18: 47,010,036 (GRCm39) P395T possibly damaging Het
Nectin4 A G 1: 171,213,301 (GRCm39) S408G probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Or52ae9 T C 7: 103,390,207 (GRCm39) K80R probably benign Het
Pcdhb13 T C 18: 37,576,873 (GRCm39) I417T probably damaging Het
Per2 T C 1: 91,357,172 (GRCm39) T664A possibly damaging Het
Plec A T 15: 76,056,962 (GRCm39) L4347Q probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Polr1a T C 6: 71,942,690 (GRCm39) F1177L probably benign Het
Pramel24 C T 4: 143,452,850 (GRCm39) R94* probably null Het
Ptprb A T 10: 116,189,754 (GRCm39) R1804S probably benign Het
Rhof C T 5: 123,257,588 (GRCm39) V181M probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc22a12 T C 19: 6,588,818 (GRCm39) E281G probably damaging Het
Slco6b1 T A 1: 96,915,622 (GRCm39) noncoding transcript Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tcof1 C A 18: 60,952,673 (GRCm39) A898S unknown Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Thoc6 A T 17: 23,888,319 (GRCm39) probably benign Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Tnpo3 A G 6: 29,560,091 (GRCm39) L684P probably damaging Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Umps G A 16: 33,777,288 (GRCm39) Q431* probably null Het
Unc13c A G 9: 73,481,289 (GRCm39) probably null Het
Vmn1r210 A T 13: 23,011,779 (GRCm39) M169K probably benign Het
Zfp946 C T 17: 22,673,548 (GRCm39) Q101* probably null Het
Other mutations in Myrip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Myrip APN 9 120,217,330 (GRCm39) missense probably damaging 1.00
IGL02108:Myrip APN 9 120,296,631 (GRCm39) critical splice donor site probably null
IGL02406:Myrip APN 9 120,296,598 (GRCm39) missense probably benign
IGL02876:Myrip APN 9 120,261,740 (GRCm39) missense probably damaging 1.00
IGL03109:Myrip APN 9 120,282,790 (GRCm39) splice site probably null
IGL03258:Myrip APN 9 120,270,418 (GRCm39) missense probably benign 0.45
PIT4581001:Myrip UTSW 9 120,296,583 (GRCm39) missense probably damaging 0.98
R0485:Myrip UTSW 9 120,270,443 (GRCm39) missense probably benign 0.01
R0633:Myrip UTSW 9 120,217,302 (GRCm39) missense probably damaging 1.00
R1489:Myrip UTSW 9 120,261,595 (GRCm39) missense probably damaging 1.00
R1539:Myrip UTSW 9 120,253,689 (GRCm39) missense probably benign 0.00
R1708:Myrip UTSW 9 120,293,840 (GRCm39) missense possibly damaging 0.65
R1817:Myrip UTSW 9 120,217,228 (GRCm39) missense probably damaging 1.00
R1818:Myrip UTSW 9 120,217,228 (GRCm39) missense probably damaging 1.00
R1878:Myrip UTSW 9 120,253,721 (GRCm39) missense probably damaging 0.99
R2484:Myrip UTSW 9 120,253,685 (GRCm39) missense probably benign 0.00
R3237:Myrip UTSW 9 120,270,473 (GRCm39) missense possibly damaging 0.91
R3890:Myrip UTSW 9 120,251,324 (GRCm39) missense probably damaging 1.00
R3912:Myrip UTSW 9 120,261,682 (GRCm39) missense probably benign
R3919:Myrip UTSW 9 120,261,695 (GRCm39) missense probably damaging 1.00
R4126:Myrip UTSW 9 120,293,764 (GRCm39) nonsense probably null
R4128:Myrip UTSW 9 120,293,764 (GRCm39) nonsense probably null
R4435:Myrip UTSW 9 120,164,680 (GRCm39) start gained probably benign
R4599:Myrip UTSW 9 120,293,850 (GRCm39) missense probably damaging 0.97
R5014:Myrip UTSW 9 120,251,534 (GRCm39) missense probably damaging 1.00
R5665:Myrip UTSW 9 120,290,499 (GRCm39) missense probably damaging 1.00
R5814:Myrip UTSW 9 120,253,734 (GRCm39) missense probably benign 0.06
R5849:Myrip UTSW 9 120,282,759 (GRCm39) missense probably damaging 0.99
R5986:Myrip UTSW 9 120,290,487 (GRCm39) missense probably damaging 1.00
R6706:Myrip UTSW 9 120,217,359 (GRCm39) missense possibly damaging 0.93
R7019:Myrip UTSW 9 120,251,573 (GRCm39) missense probably damaging 1.00
R7291:Myrip UTSW 9 120,246,207 (GRCm39) missense probably damaging 0.97
R8204:Myrip UTSW 9 120,262,045 (GRCm39) critical splice donor site probably null
R8557:Myrip UTSW 9 120,246,252 (GRCm39) missense probably benign 0.32
R8853:Myrip UTSW 9 120,290,487 (GRCm39) missense probably damaging 1.00
R8911:Myrip UTSW 9 120,270,484 (GRCm39) missense possibly damaging 0.94
R9106:Myrip UTSW 9 120,261,544 (GRCm39) missense probably benign 0.37
R9225:Myrip UTSW 9 120,293,850 (GRCm39) missense probably damaging 0.97
Z1177:Myrip UTSW 9 120,270,547 (GRCm39) missense probably damaging 1.00
Z1177:Myrip UTSW 9 120,261,844 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCATTGTAGCGGTGGATAGAC -3'
(R):5'- CTGCAGATCCTAGATATTTGGCAC -3'

Sequencing Primer
(F):5'- GTGTTGAAGTGCACACCTGTAATCC -3'
(R):5'- AGATATTTGGCACCTTCCAGG -3'
Posted On 2015-05-14