Incidental Mutation 'R0632:Gm13119'
ID 59697
Institutional Source Beutler Lab
Gene Symbol Gm13119
Ensembl Gene ENSMUSG00000070619
Gene Name predicted gene 13119
Synonyms
MMRRC Submission 038821-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R0632 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 144357942-144364419 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 144363782 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 464 (C464Y)
Ref Sequence ENSEMBL: ENSMUSP00000092103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094526]
AlphaFold B1ARV5
Predicted Effect probably damaging
Transcript: ENSMUST00000094526
AA Change: C464Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: C464Y

DomainStartEndE-ValueType
SCOP:d1a4ya_ 210 414 3e-10 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 95% (81/85)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,227,618 D83G probably benign Het
Acaa1a T A 9: 119,347,818 probably benign Het
Adgrg7 T A 16: 56,742,589 T462S possibly damaging Het
Akap6 A T 12: 52,937,148 N825I probably damaging Het
Ankib1 T A 5: 3,772,529 N59I probably benign Het
Anks6 T C 4: 47,033,167 S633G possibly damaging Het
Ap4e1 C A 2: 127,049,280 Y522* probably null Het
Art5 G A 7: 102,097,957 T205I probably damaging Het
Ascc2 T A 11: 4,649,855 L176H probably damaging Het
Atp13a5 T C 16: 29,298,208 D529G probably benign Het
C2cd4a T C 9: 67,831,563 E66G probably benign Het
C8a T C 4: 104,856,492 D147G probably damaging Het
Ccdc109b T C 3: 129,918,726 M167V probably benign Het
Ccdc14 T C 16: 34,721,649 V532A possibly damaging Het
Ccdc88a T A 11: 29,482,749 probably benign Het
Cfap54 C T 10: 92,885,096 E2543K unknown Het
Cldn13 C T 5: 134,914,747 E195K probably benign Het
Cp A G 3: 19,971,082 S402G probably null Het
Cpa3 T C 3: 20,225,194 T194A probably benign Het
Crygf C A 1: 65,927,997 Y93* probably null Het
Ctsh A G 9: 90,061,582 R87G possibly damaging Het
Cyp2t4 A G 7: 27,158,246 D428G possibly damaging Het
Dnah17 C G 11: 118,067,682 probably benign Het
Dnah3 A G 7: 119,967,905 V2366A probably benign Het
Dscaml1 A T 9: 45,732,134 I1284F probably benign Het
Dsg1c T C 18: 20,272,346 probably benign Het
Dst G T 1: 34,271,413 R4098L probably damaging Het
Efhb A G 17: 53,413,459 probably benign Het
Epha7 A T 4: 28,821,104 I90F probably damaging Het
Fam171a2 T A 11: 102,437,881 D684V probably damaging Het
Fan1 A G 7: 64,363,199 V665A possibly damaging Het
Fbn2 A G 18: 58,037,747 C2191R probably damaging Het
Fkbp3 G A 12: 65,073,918 A2V probably benign Het
G6pd2 A G 5: 61,810,171 N430D probably benign Het
Gm13547 T A 2: 29,761,584 D7E possibly damaging Het
Hdac5 A T 11: 102,205,812 D260E probably damaging Het
Hist1h4i G T 13: 22,041,027 Y99* probably null Het
Hsf2bp T C 17: 32,013,346 E142G probably damaging Het
Igf1r C T 7: 68,165,155 T268I probably damaging Het
Kcne3 C T 7: 100,184,439 R88C probably damaging Het
Klk1b9 G T 7: 43,979,372 G100V possibly damaging Het
Kmt2d G A 15: 98,853,581 probably benign Het
Lama1 C T 17: 67,752,368 probably benign Het
Lcp2 C T 11: 34,082,426 P335S possibly damaging Het
Lrrk2 T A 15: 91,796,028 N2047K probably damaging Het
Mia2 T C 12: 59,136,143 L36P probably damaging Het
Mmp13 A T 9: 7,282,077 I460F possibly damaging Het
Mmp13 G A 9: 7,274,032 G169R probably damaging Het
Msh4 A G 3: 153,896,895 I232T probably damaging Het
Msra T A 14: 64,210,532 M145L probably benign Het
Myo7a A T 7: 98,112,150 probably benign Het
Nme8 A T 13: 19,658,036 N422K probably damaging Het
Nol6 A T 4: 41,121,115 F353I probably damaging Het
Nphp3 A G 9: 104,018,274 K384E probably damaging Het
Olfr572 C T 7: 102,928,604 probably null Het
Olfr652 A G 7: 104,564,337 I39V probably benign Het
Olfr672 A G 7: 104,996,703 I67T probably benign Het
Phox2b T G 5: 67,096,214 probably benign Het
Plec A T 15: 76,173,411 S4131T probably damaging Het
Pptc7 G A 5: 122,313,591 probably benign Het
Prpf40b A G 15: 99,316,289 E810G probably benign Het
Ptprc C T 1: 138,073,610 V965I probably benign Het
Pum1 T A 4: 130,728,104 M180K probably benign Het
Ranbp3 T C 17: 56,702,896 probably benign Het
Rasgrf2 A G 13: 91,972,274 S787P probably benign Het
Rnf19b T A 4: 129,073,551 N294K probably damaging Het
Samd3 A T 10: 26,244,495 H156L possibly damaging Het
Serpinb6c C T 13: 33,880,031 R347Q possibly damaging Het
Slc36a3 A G 11: 55,125,080 I416T probably damaging Het
Slc4a4 T A 5: 89,129,641 F279Y probably damaging Het
Slc6a2 T A 8: 92,992,801 probably benign Het
Snrnp40 C G 4: 130,378,043 probably null Het
Tab2 A G 10: 7,919,801 S232P probably benign Het
Tacc2 A T 7: 130,625,595 K1356* probably null Het
Tmem87a A G 2: 120,359,542 S544P probably damaging Het
Trim52 T A 14: 106,106,967 C20S probably damaging Het
Usp38 A T 8: 81,014,150 V96E probably benign Het
Vmn2r59 T C 7: 42,058,884 Y33C probably damaging Het
Vsig10l T G 7: 43,464,137 V171G probably damaging Het
Zfp957 T A 14: 79,212,920 I480F probably damaging Het
Other mutations in Gm13119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Gm13119 APN 4 144362530 missense possibly damaging 0.91
IGL00485:Gm13119 APN 4 144363442 missense probably damaging 0.99
IGL01025:Gm13119 APN 4 144363377 missense probably damaging 1.00
IGL01102:Gm13119 APN 4 144363625 missense probably benign 0.08
IGL01631:Gm13119 APN 4 144362445 missense probably benign 0.12
IGL02228:Gm13119 APN 4 144362661 missense probably damaging 1.00
IGL02708:Gm13119 APN 4 144363413 missense probably damaging 1.00
IGL02827:Gm13119 APN 4 144363761 missense probably damaging 1.00
IGL03398:Gm13119 APN 4 144363491 missense probably damaging 1.00
R0403:Gm13119 UTSW 4 144362646 missense probably benign 0.00
R0627:Gm13119 UTSW 4 144362846 missense probably benign 0.03
R1783:Gm13119 UTSW 4 144361725 missense probably benign 0.01
R1895:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R1946:Gm13119 UTSW 4 144361865 missense probably benign 0.11
R2263:Gm13119 UTSW 4 144363541 missense probably benign 0.00
R2389:Gm13119 UTSW 4 144363413 missense probably damaging 1.00
R2435:Gm13119 UTSW 4 144362903 missense possibly damaging 0.75
R3013:Gm13119 UTSW 4 144362455 missense probably damaging 0.98
R3021:Gm13119 UTSW 4 144361799 missense probably damaging 0.99
R3106:Gm13119 UTSW 4 144361676 missense probably benign 0.04
R5237:Gm13119 UTSW 4 144362471 nonsense probably null
R5411:Gm13119 UTSW 4 144361637 start codon destroyed probably null 1.00
R5532:Gm13119 UTSW 4 144363491 missense probably damaging 1.00
R6229:Gm13119 UTSW 4 144363629 missense probably benign 0.03
R6277:Gm13119 UTSW 4 144363653 missense probably damaging 1.00
R6625:Gm13119 UTSW 4 144363799 missense probably damaging 1.00
R6717:Gm13119 UTSW 4 144362657 missense probably benign 0.00
R7103:Gm13119 UTSW 4 144363727 missense probably benign 0.00
R7207:Gm13119 UTSW 4 144361903 missense probably benign 0.08
R8934:Gm13119 UTSW 4 144363775 missense possibly damaging 0.54
R9325:Gm13119 UTSW 4 144362523 missense probably benign
R9411:Gm13119 UTSW 4 144363427 missense not run
Z1177:Gm13119 UTSW 4 144362973 missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGCTCTCAGCTCATCGAGGTCAAC -3'
(R):5'- ACTCTCTAGATGTCACAGTCAGCCC -3'

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