Incidental Mutation 'R6449:Gm5592'
ID 519292
Institutional Source Beutler Lab
Gene Symbol Gm5592
Ensembl Gene ENSMUSG00000072259
Gene Name predicted gene 5592
Synonyms
MMRRC Submission 044585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 40933751-40939607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40938010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 431 (V431I)
Ref Sequence ENSEMBL: ENSMUSP00000145899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]
AlphaFold Q3V0A6
Predicted Effect probably benign
Transcript: ENSMUST00000097044
AA Change: V431I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: V431I

DomainStartEndE-ValueType
Pfam:DUF4629 435 580 6.1e-60 PFAM
low complexity region 607 612 N/A INTRINSIC
low complexity region 708 725 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206040
Predicted Effect probably benign
Transcript: ENSMUST00000206490
AA Change: V431I

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,298 (GRCm39) Q334* probably null Het
Aadacl2fm2 A T 3: 59,652,972 (GRCm39) D137V probably damaging Het
Adam28 T C 14: 68,868,116 (GRCm39) T410A probably benign Het
Ano10 T C 9: 122,030,754 (GRCm39) probably benign Het
Bmpr2 T A 1: 59,906,596 (GRCm39) V563E probably damaging Het
Ccdc47 A G 11: 106,095,811 (GRCm39) L295P probably damaging Het
Cdhr1 T C 14: 36,812,554 (GRCm39) T210A probably benign Het
Col16a1 G A 4: 129,960,486 (GRCm39) A408T unknown Het
Csnk1g2 A G 10: 80,475,906 (GRCm39) K415R probably damaging Het
Cyp2c29 G T 19: 39,279,311 (GRCm39) A103S probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A T 18: 20,527,498 (GRCm39) I210F possibly damaging Het
Fhod1 T A 8: 106,056,869 (GRCm39) D1002V probably damaging Het
Gtpbp4 A T 13: 9,040,773 (GRCm39) C174* probably null Het
Il2ra A G 2: 11,685,173 (GRCm39) K170E probably benign Het
Itch T C 2: 155,005,315 (GRCm39) probably benign Het
Jazf1 A C 6: 52,754,640 (GRCm39) D145E probably damaging Het
Kank2 G T 9: 21,691,858 (GRCm39) A469E possibly damaging Het
Kirrel3 A G 9: 34,902,269 (GRCm39) I125V probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Krtap27-1 C T 16: 88,467,941 (GRCm39) S201N probably benign Het
Map3k20 T C 2: 72,228,758 (GRCm39) S326P probably damaging Het
Mkks C A 2: 136,716,206 (GRCm39) V565F probably damaging Het
Ntaq1 T G 15: 58,013,994 (GRCm39) probably null Het
Or5c1 A G 2: 37,221,837 (GRCm39) D26G possibly damaging Het
Or5k8 A T 16: 58,644,889 (GRCm39) I61N probably damaging Het
Or5w11 T C 2: 87,459,493 (GRCm39) S229P possibly damaging Het
Pacsin3 A T 2: 91,090,514 (GRCm39) probably null Het
Pdcd7 A G 9: 65,264,057 (GRCm39) E434G probably damaging Het
Plekhb2 T C 1: 34,903,564 (GRCm39) F102L probably benign Het
Ppp1r9a A G 6: 5,057,458 (GRCm39) D191G probably benign Het
Psmd3 A G 11: 98,576,466 (GRCm39) T123A probably benign Het
Ptprq C T 10: 107,541,444 (GRCm39) V361M probably benign Het
Raver2 A G 4: 100,990,869 (GRCm39) D414G probably benign Het
Rnf123 G A 9: 107,933,252 (GRCm39) H1162Y probably benign Het
Sema4f A G 6: 82,894,851 (GRCm39) V448A probably benign Het
Tcf12 A T 9: 71,775,550 (GRCm39) M400K probably damaging Het
Tcl1b2 G T 12: 105,119,261 (GRCm39) E50* probably null Het
Thada A C 17: 84,736,601 (GRCm39) D893E probably benign Het
Trim24 G A 6: 37,880,587 (GRCm39) probably null Het
Ttll5 T C 12: 86,071,050 (GRCm39) S1308P probably benign Het
Ubtfl1 T A 9: 18,320,925 (GRCm39) I151N possibly damaging Het
Vmn2r70 A T 7: 85,214,157 (GRCm39) F332I probably damaging Het
Zfhx4 A G 3: 5,307,488 (GRCm39) D238G probably damaging Het
Zfp639 A G 3: 32,573,810 (GRCm39) H145R possibly damaging Het
Other mutations in Gm5592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Gm5592 APN 7 40,938,519 (GRCm39) missense probably damaging 1.00
IGL01472:Gm5592 APN 7 40,935,498 (GRCm39) splice site probably benign
IGL01718:Gm5592 APN 7 40,938,617 (GRCm39) missense probably damaging 0.99
IGL01981:Gm5592 APN 7 40,935,795 (GRCm39) nonsense probably null
IGL02318:Gm5592 APN 7 40,936,212 (GRCm39) missense probably benign 0.37
IGL02346:Gm5592 APN 7 40,938,889 (GRCm39) missense probably damaging 0.97
IGL02904:Gm5592 APN 7 40,937,810 (GRCm39) missense probably damaging 1.00
I1329:Gm5592 UTSW 7 40,935,778 (GRCm39) nonsense probably null
R0465:Gm5592 UTSW 7 40,805,481 (GRCm39) intron probably benign
R0669:Gm5592 UTSW 7 40,805,254 (GRCm39) intron probably benign
R0675:Gm5592 UTSW 7 40,938,811 (GRCm39) missense possibly damaging 0.81
R1381:Gm5592 UTSW 7 40,935,596 (GRCm39) missense probably benign
R1731:Gm5592 UTSW 7 40,937,837 (GRCm39) missense probably damaging 0.99
R3149:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3150:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3176:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3177:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3276:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3277:Gm5592 UTSW 7 40,937,804 (GRCm39) missense probably benign 0.00
R3623:Gm5592 UTSW 7 40,807,052 (GRCm39) intron probably benign
R3797:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R3854:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R3856:Gm5592 UTSW 7 40,807,259 (GRCm39) intron probably benign
R4009:Gm5592 UTSW 7 40,938,934 (GRCm39) missense probably benign 0.01
R4010:Gm5592 UTSW 7 40,936,052 (GRCm39) missense probably benign 0.05
R4011:Gm5592 UTSW 7 40,938,934 (GRCm39) missense probably benign 0.01
R4127:Gm5592 UTSW 7 40,938,491 (GRCm39) missense probably benign 0.00
R4162:Gm5592 UTSW 7 40,867,202 (GRCm39) intron probably benign
R4289:Gm5592 UTSW 7 40,808,336 (GRCm39) intron probably benign
R4304:Gm5592 UTSW 7 40,935,686 (GRCm39) missense probably benign 0.20
R4332:Gm5592 UTSW 7 40,865,542 (GRCm39) intron probably benign
R4408:Gm5592 UTSW 7 40,935,872 (GRCm39) missense probably benign 0.04
R4572:Gm5592 UTSW 7 40,865,583 (GRCm39) intron probably benign
R4764:Gm5592 UTSW 7 40,865,542 (GRCm39) intron probably benign
R4822:Gm5592 UTSW 7 40,805,314 (GRCm39) intron probably benign
R4836:Gm5592 UTSW 7 40,864,958 (GRCm39) intron probably benign
R4854:Gm5592 UTSW 7 40,866,895 (GRCm39) intron probably benign
R5032:Gm5592 UTSW 7 40,939,159 (GRCm39) missense probably damaging 1.00
R5075:Gm5592 UTSW 7 40,808,387 (GRCm39) intron probably benign
R5369:Gm5592 UTSW 7 40,867,635 (GRCm39) intron probably benign
R5424:Gm5592 UTSW 7 40,805,017 (GRCm39) intron probably benign
R5700:Gm5592 UTSW 7 40,808,003 (GRCm39) intron probably benign
R5741:Gm5592 UTSW 7 40,938,625 (GRCm39) missense probably benign
R5802:Gm5592 UTSW 7 40,868,529 (GRCm39) intron probably benign
R5945:Gm5592 UTSW 7 40,865,036 (GRCm39) intron probably benign
R6117:Gm5592 UTSW 7 40,937,888 (GRCm39) missense probably benign 0.00
R6324:Gm5592 UTSW 7 40,935,959 (GRCm39) missense probably damaging 0.98
R6571:Gm5592 UTSW 7 40,937,999 (GRCm39) missense probably damaging 0.98
R6776:Gm5592 UTSW 7 40,939,153 (GRCm39) missense probably damaging 1.00
R7595:Gm5592 UTSW 7 40,935,867 (GRCm39) missense probably damaging 0.99
R7658:Gm5592 UTSW 7 40,938,134 (GRCm39) missense probably benign 0.03
R7699:Gm5592 UTSW 7 40,935,831 (GRCm39) missense probably damaging 1.00
R7700:Gm5592 UTSW 7 40,935,831 (GRCm39) missense probably damaging 1.00
R7774:Gm5592 UTSW 7 40,939,283 (GRCm39) missense probably damaging 1.00
R7788:Gm5592 UTSW 7 40,936,118 (GRCm39) missense probably benign 0.01
R7890:Gm5592 UTSW 7 40,936,183 (GRCm39) missense probably damaging 1.00
R8070:Gm5592 UTSW 7 40,935,887 (GRCm39) missense possibly damaging 0.76
R8417:Gm5592 UTSW 7 40,937,975 (GRCm39) missense probably benign 0.38
R8866:Gm5592 UTSW 7 40,938,246 (GRCm39) missense possibly damaging 0.74
R9044:Gm5592 UTSW 7 40,938,274 (GRCm39) missense probably benign 0.25
R9057:Gm5592 UTSW 7 40,938,887 (GRCm39) missense possibly damaging 0.93
R9258:Gm5592 UTSW 7 40,938,407 (GRCm39) missense possibly damaging 0.56
R9451:Gm5592 UTSW 7 40,935,876 (GRCm39) missense probably damaging 0.99
R9760:Gm5592 UTSW 7 40,939,234 (GRCm39) missense possibly damaging 0.57
X0021:Gm5592 UTSW 7 40,937,932 (GRCm39) missense probably benign 0.01
Z1176:Gm5592 UTSW 7 40,938,105 (GRCm39) missense probably benign 0.00
Z1176:Gm5592 UTSW 7 40,935,743 (GRCm39) missense possibly damaging 0.94
Z1176:Gm5592 UTSW 7 40,935,741 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGCCTGATTCTGATAATGCCC -3'
(R):5'- GGATTTGTTCTGTGGCCCAC -3'

Sequencing Primer
(F):5'- AGCCTGATTCTGATAATGCCCATTTG -3'
(R):5'- TTCTTGCTGGGAGGCCC -3'
Posted On 2018-05-24