Incidental Mutation 'R3150:Gm5592'
ID 271628
Institutional Source Beutler Lab
Gene Symbol Gm5592
Ensembl Gene ENSMUSG00000072259
Gene Name predicted gene 5592
Synonyms
MMRRC Submission 040602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3150 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 41153841-41290183 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41288380 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 362 (E362G)
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: E362G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: E362G

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: E362G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik C A 7: 28,154,195 (GRCm38) T1528N probably benign Het
Akna A T 4: 63,395,353 (GRCm38) S178T possibly damaging Het
BC067074 A T 13: 113,351,760 (GRCm38) Q105H probably damaging Het
Cabin1 A G 10: 75,656,911 (GRCm38) L1850P probably damaging Het
Ccdc178 G T 18: 22,067,652 (GRCm38) A416E possibly damaging Het
Ces1g C T 8: 93,325,816 (GRCm38) V282I probably benign Het
Col4a3 T G 1: 82,657,137 (GRCm38) probably null Het
Crat C T 2: 30,413,859 (GRCm38) probably null Het
Csf2ra C A 19: 61,227,320 (GRCm38) A16S possibly damaging Het
Cyp4f18 T C 8: 71,993,200 (GRCm38) D317G possibly damaging Het
Ddb1 T A 19: 10,612,982 (GRCm38) M291K probably benign Het
Gfod2 C T 8: 105,717,221 (GRCm38) G230D probably benign Het
Git2 A G 5: 114,730,349 (GRCm38) S257P probably damaging Het
Gpatch2l A G 12: 86,244,315 (GRCm38) T91A possibly damaging Het
Hjurp A G 1: 88,266,561 (GRCm38) probably benign Het
Hnrnph1 T A 11: 50,385,792 (GRCm38) V439E probably benign Het
Itgad C A 7: 128,190,981 (GRCm38) H651N possibly damaging Het
Map3k20 C T 2: 72,371,992 (GRCm38) T189M probably damaging Het
Mapk11 T C 15: 89,145,450 (GRCm38) probably null Het
Mrc2 G A 11: 105,348,431 (GRCm38) probably null Het
Nmral1 G A 16: 4,716,469 (GRCm38) T36I probably damaging Het
Olfr1231 C T 2: 89,303,218 (GRCm38) V125M possibly damaging Het
Olfr1475 A G 19: 13,479,460 (GRCm38) V246A probably damaging Het
Olfr860 A G 9: 19,846,214 (GRCm38) I135T possibly damaging Het
Padi6 A G 4: 140,735,389 (GRCm38) L307P probably damaging Het
Pkd1 G T 17: 24,579,791 (GRCm38) R2691L probably benign Het
Ppp2r2a G A 14: 67,023,765 (GRCm38) R169W probably damaging Het
Prdm1 A T 10: 44,458,492 (GRCm38) probably null Het
Robo1 C T 16: 72,970,269 (GRCm38) P443L possibly damaging Het
Rtn4 CGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGA 11: 29,693,308 (GRCm38) probably benign Het
Shprh A G 10: 11,170,030 (GRCm38) H865R probably damaging Het
Spats1 A T 17: 45,464,554 (GRCm38) S15T probably damaging Het
Srgap2 T C 1: 131,292,589 (GRCm38) T216A probably benign Het
Sry ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG Y: 2,662,944 (GRCm38) probably benign Het
Tie1 G A 4: 118,475,825 (GRCm38) A902V probably damaging Het
Usp22 T C 11: 61,160,581 (GRCm38) Q312R probably damaging Het
Vmn2r32 T C 7: 7,472,555 (GRCm38) Y443C probably benign Het
Vps13d A C 4: 145,086,790 (GRCm38) D3274E probably damaging Het
Wdr62 A T 7: 30,271,670 (GRCm38) N167K possibly damaging Het
Xpo5 A G 17: 46,242,247 (GRCm38) probably null Het
Zswim7 A T 11: 62,273,785 (GRCm38) I43N possibly damaging Het
Zswim9 T C 7: 13,277,270 (GRCm38) T51A possibly damaging Het
Other mutations in Gm5592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Gm5592 APN 7 41,289,095 (GRCm38) missense probably damaging 1.00
IGL01472:Gm5592 APN 7 41,286,074 (GRCm38) splice site probably benign
IGL01718:Gm5592 APN 7 41,289,193 (GRCm38) missense probably damaging 0.99
IGL01981:Gm5592 APN 7 41,286,371 (GRCm38) nonsense probably null
IGL02318:Gm5592 APN 7 41,286,788 (GRCm38) missense probably benign 0.37
IGL02346:Gm5592 APN 7 41,289,465 (GRCm38) missense probably damaging 0.97
IGL02904:Gm5592 APN 7 41,288,386 (GRCm38) missense probably damaging 1.00
I1329:Gm5592 UTSW 7 41,286,354 (GRCm38) nonsense probably null
R0465:Gm5592 UTSW 7 41,156,057 (GRCm38) intron probably benign
R0669:Gm5592 UTSW 7 41,155,830 (GRCm38) intron probably benign
R0675:Gm5592 UTSW 7 41,289,387 (GRCm38) missense possibly damaging 0.81
R1381:Gm5592 UTSW 7 41,286,172 (GRCm38) missense probably benign
R1731:Gm5592 UTSW 7 41,288,413 (GRCm38) missense probably damaging 0.99
R3149:Gm5592 UTSW 7 41,288,380 (GRCm38) missense probably benign 0.00
R3176:Gm5592 UTSW 7 41,288,380 (GRCm38) missense probably benign 0.00
R3177:Gm5592 UTSW 7 41,288,380 (GRCm38) missense probably benign 0.00
R3276:Gm5592 UTSW 7 41,288,380 (GRCm38) missense probably benign 0.00
R3277:Gm5592 UTSW 7 41,288,380 (GRCm38) missense probably benign 0.00
R3623:Gm5592 UTSW 7 41,157,628 (GRCm38) intron probably benign
R3797:Gm5592 UTSW 7 41,157,835 (GRCm38) intron probably benign
R3854:Gm5592 UTSW 7 41,157,835 (GRCm38) intron probably benign
R3856:Gm5592 UTSW 7 41,157,835 (GRCm38) intron probably benign
R4009:Gm5592 UTSW 7 41,289,510 (GRCm38) missense probably benign 0.01
R4010:Gm5592 UTSW 7 41,286,628 (GRCm38) missense probably benign 0.05
R4011:Gm5592 UTSW 7 41,289,510 (GRCm38) missense probably benign 0.01
R4127:Gm5592 UTSW 7 41,289,067 (GRCm38) missense probably benign 0.00
R4162:Gm5592 UTSW 7 41,217,778 (GRCm38) intron probably benign
R4289:Gm5592 UTSW 7 41,158,912 (GRCm38) intron probably benign
R4304:Gm5592 UTSW 7 41,286,262 (GRCm38) missense probably benign 0.20
R4332:Gm5592 UTSW 7 41,216,118 (GRCm38) intron probably benign
R4408:Gm5592 UTSW 7 41,286,448 (GRCm38) missense probably benign 0.04
R4572:Gm5592 UTSW 7 41,216,159 (GRCm38) intron probably benign
R4764:Gm5592 UTSW 7 41,216,118 (GRCm38) intron probably benign
R4822:Gm5592 UTSW 7 41,155,890 (GRCm38) intron probably benign
R4836:Gm5592 UTSW 7 41,215,534 (GRCm38) intron probably benign
R4854:Gm5592 UTSW 7 41,217,471 (GRCm38) intron probably benign
R5032:Gm5592 UTSW 7 41,289,735 (GRCm38) missense probably damaging 1.00
R5075:Gm5592 UTSW 7 41,158,963 (GRCm38) intron probably benign
R5369:Gm5592 UTSW 7 41,218,211 (GRCm38) intron probably benign
R5424:Gm5592 UTSW 7 41,155,593 (GRCm38) intron probably benign
R5700:Gm5592 UTSW 7 41,158,579 (GRCm38) intron probably benign
R5741:Gm5592 UTSW 7 41,289,201 (GRCm38) missense probably benign
R5802:Gm5592 UTSW 7 41,219,105 (GRCm38) intron probably benign
R5945:Gm5592 UTSW 7 41,215,612 (GRCm38) intron probably benign
R6117:Gm5592 UTSW 7 41,288,464 (GRCm38) missense probably benign 0.00
R6324:Gm5592 UTSW 7 41,286,535 (GRCm38) missense probably damaging 0.98
R6449:Gm5592 UTSW 7 41,288,586 (GRCm38) missense probably benign 0.09
R6571:Gm5592 UTSW 7 41,288,575 (GRCm38) missense probably damaging 0.98
R6776:Gm5592 UTSW 7 41,289,729 (GRCm38) missense probably damaging 1.00
R7595:Gm5592 UTSW 7 41,286,443 (GRCm38) missense probably damaging 0.99
R7658:Gm5592 UTSW 7 41,288,710 (GRCm38) missense probably benign 0.03
R7699:Gm5592 UTSW 7 41,286,407 (GRCm38) missense probably damaging 1.00
R7700:Gm5592 UTSW 7 41,286,407 (GRCm38) missense probably damaging 1.00
R7774:Gm5592 UTSW 7 41,289,859 (GRCm38) missense probably damaging 1.00
R7788:Gm5592 UTSW 7 41,286,694 (GRCm38) missense probably benign 0.01
R7890:Gm5592 UTSW 7 41,286,759 (GRCm38) missense probably damaging 1.00
R8070:Gm5592 UTSW 7 41,286,463 (GRCm38) missense possibly damaging 0.76
R8417:Gm5592 UTSW 7 41,288,551 (GRCm38) missense probably benign 0.38
R8866:Gm5592 UTSW 7 41,288,822 (GRCm38) missense possibly damaging 0.74
R9044:Gm5592 UTSW 7 41,288,850 (GRCm38) missense probably benign 0.25
R9057:Gm5592 UTSW 7 41,289,463 (GRCm38) missense possibly damaging 0.93
R9258:Gm5592 UTSW 7 41,288,983 (GRCm38) missense possibly damaging 0.56
R9451:Gm5592 UTSW 7 41,286,452 (GRCm38) missense probably damaging 0.99
R9760:Gm5592 UTSW 7 41,289,810 (GRCm38) missense possibly damaging 0.57
X0021:Gm5592 UTSW 7 41,288,508 (GRCm38) missense probably benign 0.01
Z1176:Gm5592 UTSW 7 41,288,681 (GRCm38) missense probably benign 0.00
Z1176:Gm5592 UTSW 7 41,286,319 (GRCm38) missense possibly damaging 0.94
Z1176:Gm5592 UTSW 7 41,286,317 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGACAAGGCATTAACAGCC -3'
(R):5'- ACTGTCCAGGTTTCACAGGAC -3'

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