Incidental Mutation 'R3797:Gm5592'
ID 272793
Institutional Source Beutler Lab
Gene Symbol Gm5592
Ensembl Gene ENSMUSG00000072259
Gene Name predicted gene 5592
Synonyms
MMRRC Submission 040758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3797 (G1)
Quality Score 113
Status Validated
Chromosome 7
Chromosomal Location 40933751-40939607 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 40807259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000206490]
AlphaFold Q3V0A6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108009
SMART Domains Protein: ENSMUSP00000103644
Gene: ENSMUSG00000078737

DomainStartEndE-ValueType
Pfam:DUF4629 425 524 5.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206040
Predicted Effect probably benign
Transcript: ENSMUST00000206490
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
B4galt1 G A 4: 40,807,258 (GRCm39) T376I probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Capn5 C T 7: 97,775,036 (GRCm39) G535R probably null Het
Ccdc170 G A 10: 4,510,920 (GRCm39) V660I possibly damaging Het
Cdc73 A T 1: 143,553,461 (GRCm39) D215E probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clns1a G A 7: 97,346,042 (GRCm39) G36R probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Dsp T A 13: 38,361,260 (GRCm39) probably null Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Ephb1 T C 9: 101,848,466 (GRCm39) T611A probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Itgb8 T C 12: 119,127,204 (GRCm39) I683M possibly damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Limch1 A G 5: 67,126,422 (GRCm39) T8A probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Ltbp1 A G 17: 75,669,625 (GRCm39) Q1455R probably damaging Het
Mtarc2 T C 1: 184,573,505 (GRCm39) E131G possibly damaging Het
Or51v14 C T 7: 103,260,654 (GRCm39) R302Q probably benign Het
Pak5 T C 2: 135,942,746 (GRCm39) I465V probably benign Het
Pcdhgb8 T C 18: 37,895,728 (GRCm39) I266T probably benign Het
Pde4d T C 13: 109,769,431 (GRCm39) S40P probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Polk A T 13: 96,623,490 (GRCm39) probably benign Het
Ppl T C 16: 4,922,414 (GRCm39) probably benign Het
Rab11fip3 A G 17: 26,287,500 (GRCm39) C218R possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Skida1 C A 2: 18,050,708 (GRCm39) E815* probably null Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Svil T A 18: 5,060,534 (GRCm39) C802S probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Ugt3a1 G A 15: 9,310,727 (GRCm39) W336* probably null Het
Vmn2r72 T C 7: 85,387,285 (GRCm39) S760G probably benign Het
Vps13a T C 19: 16,723,311 (GRCm39) probably null Het
Wdfy4 A T 14: 32,862,602 (GRCm39) I590N probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Xpnpep1 A T 19: 52,994,773 (GRCm39) V285D probably benign Het
Zfp934 T C 13: 62,665,702 (GRCm39) K313R probably benign 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
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
R6449:Gm5592 UTSW 7 40,938,010 (GRCm39) missense probably benign 0.09
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'- ACAGTCCTTCAGAGTTCCTGGC -3'
(R):5'- TCTTCCTCACCTGGTCAGAG -3'

Sequencing Primer
(F):5'- TTCCAGCTCCAAGCCTGG -3'
(R):5'- TGGTCAGAGGGGCCACTG -3'
Posted On 2015-03-25