Incidental Mutation 'R6993:Gm5591'
ID 543968
Institutional Source Beutler Lab
Gene Symbol Gm5591
Ensembl Gene ENSMUSG00000060565
Gene Name predicted gene 5591
Synonyms
MMRRC Submission 045099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R6993 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 38217563-38227617 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38218647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 742 (H742L)
Ref Sequence ENSEMBL: ENSMUSP00000078695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079759]
AlphaFold Q8CDK1
Predicted Effect probably benign
Transcript: ENSMUST00000079759
AA Change: H742L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: H742L

DomainStartEndE-ValueType
low complexity region 319 330 N/A INTRINSIC
Pfam:DUF4629 437 582 1.2e-59 PFAM
low complexity region 648 660 N/A INTRINSIC
low complexity region 693 704 N/A INTRINSIC
low complexity region 711 723 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,975,053 (GRCm39) E10G possibly damaging Het
Akap9 A G 5: 4,115,866 (GRCm39) I3429V possibly damaging Het
Braf T A 6: 39,620,097 (GRCm39) I441F probably damaging Het
C5ar1 A T 7: 15,982,837 (GRCm39) V61E probably damaging Het
Camk2a C A 18: 61,076,247 (GRCm39) probably benign Het
Cd163 A G 6: 124,294,673 (GRCm39) Y579C probably damaging Het
Celf1 T C 2: 90,840,821 (GRCm39) Y363H probably damaging Het
Cntn3 T C 6: 102,255,365 (GRCm39) T178A probably damaging Het
Cryab C T 9: 50,664,748 (GRCm39) P58S probably benign Het
Ctsf G T 19: 4,908,511 (GRCm39) R290L probably benign Het
Ctsw T A 19: 5,515,865 (GRCm39) I258F probably damaging Het
Dnah7b T C 1: 46,234,299 (GRCm39) probably null Het
Drg1 TCATCTTCCA TCA 11: 3,200,294 (GRCm39) probably null Het
Etfb A G 7: 43,105,978 (GRCm39) T172A possibly damaging Het
Etfdh A G 3: 79,519,338 (GRCm39) Y272H probably benign Het
Ewsr1 C T 11: 5,021,573 (GRCm39) R454Q probably benign Het
F2rl2 T A 13: 95,837,642 (GRCm39) I229N probably damaging Het
Fam162a A T 16: 35,870,215 (GRCm39) I88N probably damaging Het
Fastkd5 A G 2: 130,458,459 (GRCm39) S44P probably benign Het
Fat3 T G 9: 15,830,517 (GRCm39) S4326R probably damaging Het
Fbf1 T C 11: 116,043,610 (GRCm39) K400E probably benign Het
Fndc7 A G 3: 108,783,907 (GRCm39) V234A probably benign Het
Gfi1 T A 5: 107,865,634 (GRCm39) H481L probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
H2-DMb1 A C 17: 34,376,324 (GRCm39) T148P possibly damaging Het
H2-T3 A G 17: 36,497,962 (GRCm39) L317P probably damaging Het
Hes3 T C 4: 152,371,380 (GRCm39) T190A probably benign Het
Hivep1 C T 13: 42,312,190 (GRCm39) L1477F possibly damaging Het
Insr C T 8: 3,308,752 (GRCm39) G95S probably damaging Het
Irf9 A G 14: 55,846,414 (GRCm39) I394V probably benign Het
Kat2b T C 17: 53,945,550 (GRCm39) L323P probably damaging Het
Kdr T C 5: 76,133,071 (GRCm39) D69G probably benign Het
Krt1c C T 15: 101,724,395 (GRCm39) E290K probably damaging Het
Krtap4-6 G T 11: 99,556,545 (GRCm39) R61S unknown Het
Ldc1 A G 4: 130,112,106 (GRCm39) L192P probably damaging Het
Lrrc27 A T 7: 138,822,540 (GRCm39) K477M probably damaging Het
Lvrn T C 18: 47,015,365 (GRCm39) V579A probably benign Het
Malrd1 A T 2: 16,155,602 (GRCm39) I2004L unknown Het
Mast4 A T 13: 102,872,482 (GRCm39) N2103K probably benign Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Myo18a T A 11: 77,749,900 (GRCm39) probably benign Het
Or10d5 T A 9: 39,861,933 (GRCm39) M45L probably benign Het
Or52ab2 G T 7: 102,969,998 (GRCm39) probably benign Het
Pcdhga10 A G 18: 37,882,309 (GRCm39) Y690C probably damaging Het
Pdcd2 A G 17: 15,747,343 (GRCm39) Y65H probably damaging Het
Ppp1r12a A G 10: 108,076,698 (GRCm39) E309G probably benign Het
Psmb8 A G 17: 34,418,617 (GRCm39) D123G probably damaging Het
Ptcd3 A T 6: 71,862,299 (GRCm39) W513R probably damaging Het
Ptx4 G A 17: 25,343,898 (GRCm39) V383I possibly damaging Het
Ric1 T C 19: 29,564,013 (GRCm39) L589S probably damaging Het
Rmnd5b A G 11: 51,515,427 (GRCm39) probably benign Het
Sec16a A T 2: 26,313,586 (GRCm39) S1925T probably damaging Het
Slc16a11 T A 11: 70,106,842 (GRCm39) M360K possibly damaging Het
Slc19a2 T A 1: 164,088,391 (GRCm39) F79I probably benign Het
Slc2a6 G T 2: 26,917,255 (GRCm39) S45R probably damaging Het
Slco1a7 G A 6: 141,711,468 (GRCm39) T81I possibly damaging Het
Sppl3 T A 5: 115,220,349 (GRCm39) M87K probably damaging Het
Tbcel A T 9: 42,327,413 (GRCm39) L330* probably null Het
Tbx5 A T 5: 120,009,454 (GRCm39) Y321F possibly damaging Het
Tenm3 C T 8: 48,689,474 (GRCm39) D2038N probably damaging Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Unc45a A T 7: 79,975,403 (GRCm39) Y934N probably damaging Het
Unc80 A T 1: 66,588,952 (GRCm39) Q1039L possibly damaging Het
Vmn2r112 T C 17: 22,822,195 (GRCm39) L291P probably benign Het
Wwc2 A T 8: 48,300,500 (GRCm39) F988I unknown Het
Zfp947 G A 17: 22,364,961 (GRCm39) P238S probably benign Het
Other mutations in Gm5591
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Gm5591 APN 7 38,219,838 (GRCm39) missense probably benign 0.20
IGL02277:Gm5591 APN 7 38,218,462 (GRCm39) missense possibly damaging 0.92
IGL02277:Gm5591 APN 7 38,219,856 (GRCm39) missense probably damaging 0.98
IGL02503:Gm5591 APN 7 38,219,433 (GRCm39) missense probably damaging 1.00
IGL02897:Gm5591 APN 7 38,219,466 (GRCm39) missense probably damaging 1.00
IGL02899:Gm5591 APN 7 38,218,842 (GRCm39) missense probably damaging 1.00
R1599:Gm5591 UTSW 7 38,219,794 (GRCm39) missense probably benign
R2365:Gm5591 UTSW 7 38,218,825 (GRCm39) missense probably damaging 1.00
R3054:Gm5591 UTSW 7 38,220,058 (GRCm39) missense probably benign 0.35
R4619:Gm5591 UTSW 7 38,220,072 (GRCm39) missense probably benign 0.04
R4722:Gm5591 UTSW 7 38,218,572 (GRCm39) missense probably damaging 1.00
R4779:Gm5591 UTSW 7 38,221,680 (GRCm39) missense probably damaging 0.96
R5079:Gm5591 UTSW 7 38,221,560 (GRCm39) missense probably benign 0.01
R5237:Gm5591 UTSW 7 38,221,631 (GRCm39) missense probably benign 0.31
R5267:Gm5591 UTSW 7 38,218,338 (GRCm39) missense possibly damaging 0.94
R6337:Gm5591 UTSW 7 38,221,319 (GRCm39) missense probably benign 0.00
R6458:Gm5591 UTSW 7 38,218,459 (GRCm39) missense probably damaging 1.00
R6671:Gm5591 UTSW 7 38,219,523 (GRCm39) missense possibly damaging 0.71
R6709:Gm5591 UTSW 7 38,221,499 (GRCm39) missense probably benign 0.31
R6874:Gm5591 UTSW 7 38,219,715 (GRCm39) missense probably damaging 0.97
R6917:Gm5591 UTSW 7 38,221,614 (GRCm39) missense probably damaging 0.99
R7446:Gm5591 UTSW 7 38,218,933 (GRCm39) missense probably benign 0.16
R7519:Gm5591 UTSW 7 38,220,094 (GRCm39) missense possibly damaging 0.70
R7596:Gm5591 UTSW 7 38,219,608 (GRCm39) missense probably benign
R7923:Gm5591 UTSW 7 38,221,338 (GRCm39) missense probably benign 0.13
R8003:Gm5591 UTSW 7 38,219,183 (GRCm39) missense probably damaging 0.96
R8027:Gm5591 UTSW 7 38,221,722 (GRCm39) missense probably damaging 0.99
R8058:Gm5591 UTSW 7 38,218,363 (GRCm39) missense probably benign 0.00
R8242:Gm5591 UTSW 7 38,219,746 (GRCm39) missense probably benign
R8719:Gm5591 UTSW 7 38,221,614 (GRCm39) missense probably benign 0.03
R8943:Gm5591 UTSW 7 38,219,727 (GRCm39) missense probably benign 0.21
R9314:Gm5591 UTSW 7 38,221,884 (GRCm39) missense probably benign 0.00
R9403:Gm5591 UTSW 7 38,221,680 (GRCm39) missense probably damaging 0.96
R9403:Gm5591 UTSW 7 38,219,572 (GRCm39) missense probably benign 0.00
R9424:Gm5591 UTSW 7 38,219,721 (GRCm39) missense probably damaging 1.00
RF052:Gm5591 UTSW 7 38,221,999 (GRCm39) frame shift probably null
RF062:Gm5591 UTSW 7 38,221,759 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATGACTGGTCCCAGAATGTCG -3'
(R):5'- CTCAAGCCAGACCTGCTTCTAG -3'

Sequencing Primer
(F):5'- AGAATGTCGACTTTCCTCCATGG -3'
(R):5'- TAGAAAGCCTCTCCCCCTGG -3'
Posted On 2019-05-13