Incidental Mutation 'R4212:Gm11559'
ID 319258
Institutional Source Beutler Lab
Gene Symbol Gm11559
Ensembl Gene ENSMUSG00000090225
Gene Name predicted gene 11559
Synonyms
MMRRC Submission 041641-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4212 (G1)
Quality Score 165
Status Not validated
Chromosome 11
Chromosomal Location 99755302-99756397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99755726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 125 (Q125R)
Ref Sequence ENSEMBL: ENSMUSP00000090367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092694]
AlphaFold Q9D3H7
Predicted Effect unknown
Transcript: ENSMUST00000092694
AA Change: Q125R
SMART Domains Protein: ENSMUSP00000090367
Gene: ENSMUSG00000090225
AA Change: Q125R

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 49 88 4.3e-6 PFAM
Pfam:Keratin_B2_2 84 127 9.9e-14 PFAM
Pfam:Keratin_B2_2 127 169 5.5e-11 PFAM
low complexity region 175 191 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G T 15: 60,791,585 (GRCm39) L284M possibly damaging Het
Adamts15 A G 9: 30,817,470 (GRCm39) V536A probably damaging Het
Arsi A T 18: 61,049,773 (GRCm39) I219F probably damaging Het
Atg7 G A 6: 114,680,386 (GRCm39) G447E probably benign Het
Bdp1 T A 13: 100,196,093 (GRCm39) H1223L probably benign Het
Cep152 A G 2: 125,461,921 (GRCm39) M87T probably benign Het
Chrm3 T C 13: 9,927,791 (GRCm39) D415G probably benign Het
Chrnb2 A T 3: 89,668,851 (GRCm39) C155S probably damaging Het
Col6a4 T A 9: 105,952,569 (GRCm39) Q443L probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
D5Ertd579e A T 5: 36,771,823 (GRCm39) D857E probably damaging Het
Efcab6 T C 15: 83,777,064 (GRCm39) D1124G probably damaging Het
F830045P16Rik C T 2: 129,302,273 (GRCm39) A440T probably benign Het
Gc T C 5: 89,583,434 (GRCm39) K370E probably benign Het
Gm3985 A T 8: 33,432,484 (GRCm39) noncoding transcript Het
Gucy2e A G 11: 69,118,949 (GRCm39) F681S probably damaging Het
Hip1r A G 5: 124,137,953 (GRCm39) I760V probably benign Het
Islr2 C T 9: 58,106,603 (GRCm39) G219D probably damaging Het
Itgae A G 11: 73,010,178 (GRCm39) H556R probably benign Het
Jag1 T C 2: 136,926,990 (GRCm39) D923G probably benign Het
Kmt2c A G 5: 25,552,357 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,884 (GRCm39) probably benign Het
Krtap17-1 A G 11: 99,884,740 (GRCm39) L9P unknown Het
Lats2 C T 14: 57,933,712 (GRCm39) D802N possibly damaging Het
Lrfn5 A T 12: 61,890,606 (GRCm39) T632S probably benign Het
Myo9a C T 9: 59,813,349 (GRCm39) R2183* probably null Het
Myorg T C 4: 41,498,307 (GRCm39) E441G probably benign Het
Naip1 T C 13: 100,563,383 (GRCm39) probably null Het
Nf1 T A 11: 79,360,624 (GRCm39) V1434E probably damaging Het
Nlrc4 T C 17: 74,754,110 (GRCm39) Y91C possibly damaging Het
Or4l1 A T 14: 50,166,346 (GRCm39) Y218* probably null Het
Or5b102 T G 19: 13,041,123 (GRCm39) M116R probably damaging Het
Or5k1 T A 16: 58,617,732 (GRCm39) H159L possibly damaging Het
Pard3 T A 8: 128,336,939 (GRCm39) I1143K probably benign Het
Pcdha7 A G 18: 37,108,027 (GRCm39) T351A probably benign Het
Phf2 C A 13: 48,974,089 (GRCm39) G318V unknown Het
Plch1 T A 3: 63,778,180 (GRCm39) probably benign Het
Polr1c A G 17: 46,557,046 (GRCm39) I79T probably damaging Het
Ppp2r5e A G 12: 75,516,325 (GRCm39) I244T probably damaging Het
Psmd12 T C 11: 107,376,585 (GRCm39) C74R probably damaging Het
Qng1 C T 13: 58,529,805 (GRCm39) G269E probably damaging Het
Ralgapa1 A G 12: 55,786,115 (GRCm39) probably null Het
Robo3 C T 9: 37,333,194 (GRCm39) G781D probably damaging Het
Scn8a T C 15: 100,854,954 (GRCm39) V147A possibly damaging Het
Sema3b C T 9: 107,480,597 (GRCm39) V117M probably damaging Het
Sfxn5 A T 6: 85,309,288 (GRCm39) L139* probably null Het
Slc2a12 A T 10: 22,577,993 (GRCm39) K596N probably benign Het
Sorcs1 G A 19: 50,213,613 (GRCm39) R705C probably damaging Het
Spata31e4 C T 13: 50,854,388 (GRCm39) T82I possibly damaging Het
Tlr4 T A 4: 66,758,563 (GRCm39) I452N probably damaging Het
Tshz3 A G 7: 36,469,544 (GRCm39) D511G probably damaging Het
Usp44 A G 10: 93,682,632 (GRCm39) K314E possibly damaging Het
Other mutations in Gm11559
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01975:Gm11559 APN 11 99,755,682 (GRCm39) missense unknown
R1620:Gm11559 UTSW 11 99,755,882 (GRCm39) missense unknown
R1792:Gm11559 UTSW 11 99,755,755 (GRCm39) missense unknown
R5633:Gm11559 UTSW 11 99,755,412 (GRCm39) nonsense probably null
R6464:Gm11559 UTSW 11 99,755,542 (GRCm39) missense unknown
R7326:Gm11559 UTSW 11 99,755,707 (GRCm39) missense unknown
R8130:Gm11559 UTSW 11 99,755,416 (GRCm39) missense unknown
Z1088:Gm11559 UTSW 11 99,755,775 (GRCm39) nonsense probably null
Z1177:Gm11559 UTSW 11 99,755,589 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGCTGTCAAACCACCTGCTG -3'
(R):5'- AGTTGATCAACAGCCACAGGG -3'

Sequencing Primer
(F):5'- AGGACCTGCTTCCAGCCATG -3'
(R):5'- TCACAGCAGCTGGACCC -3'
Posted On 2015-06-10