Incidental Mutation 'R7400:Gm4070'
ID574101
Institutional Source Beutler Lab
Gene Symbol Gm4070
Ensembl Gene ENSMUSG00000078606
Gene Namepredicted gene 4070
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R7400 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location105895139-105953967 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 105902040 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 602 (I602F)
Ref Sequence ENSEMBL: ENSMUSP00000102377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106766] [ENSMUST00000176467] [ENSMUST00000176994]
Predicted Effect probably benign
Transcript: ENSMUST00000106766
AA Change: I602F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102377
Gene: ENSMUSG00000078606
AA Change: I602F

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1656 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176467
AA Change: I602F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135898
Gene: ENSMUSG00000078606
AA Change: I602F

DomainStartEndE-ValueType
low complexity region 104 116 N/A INTRINSIC
low complexity region 122 135 N/A INTRINSIC
Blast:PGAM 860 1554 7e-61 BLAST
coiled coil region 1625 1656 N/A INTRINSIC
low complexity region 1769 1781 N/A INTRINSIC
coiled coil region 1851 1877 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176994
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik T A 9: 103,250,662 E690V probably benign Het
4932414N04Rik T C 2: 68,666,203 S118P unknown Het
Ahnak T A 19: 9,014,613 D4420E probably damaging Het
Atp5g2 C T 15: 102,665,112 A90T possibly damaging Het
Batf2 A G 19: 6,171,508 Y116C probably damaging Het
Cd48 G A 1: 171,695,925 R112H probably benign Het
Cdh8 A T 8: 99,279,560 Y132N probably damaging Het
Cfap70 A C 14: 20,408,267 S793A probably benign Het
Cmip A G 8: 117,257,405 probably null Het
Cyp1a2 T C 9: 57,681,940 N197S probably benign Het
Diaph1 T C 18: 37,854,502 D1067G probably damaging Het
Disp2 T C 2: 118,791,886 L1033P probably damaging Het
Dock6 G T 9: 21,801,807 A1981D possibly damaging Het
Eci3 T C 13: 34,959,977 D55G probably benign Het
Eea1 T A 10: 95,995,570 D174E probably benign Het
Ehd2 T C 7: 15,950,656 E406G possibly damaging Het
Erich3 A G 3: 154,762,577 K889E Het
Fat4 C A 3: 38,887,924 T322K probably damaging Het
Fitm1 A T 14: 55,576,769 I241F possibly damaging Het
Fscb C A 12: 64,471,617 S1025I unknown Het
Gpsm2 T A 3: 108,679,688 D644V probably damaging Het
Gucy2d C A 7: 98,443,640 L75M possibly damaging Het
Hmcn1 T C 1: 150,674,430 I2668V probably damaging Het
Hoxa7 A G 6: 52,217,053 I118T possibly damaging Het
Hsp90ab1 A G 17: 45,569,284 V473A probably benign Het
Ica1l T C 1: 60,042,642 probably null Het
Ighv1-72 A G 12: 115,758,217 S40P probably damaging Het
Kif28 A C 1: 179,700,274 W771G probably damaging Het
Klf13 G C 7: 63,938,248 A100G probably benign Het
Klhl5 A G 5: 65,148,590 E300G possibly damaging Het
Krt40 A G 11: 99,543,143 S6P probably benign Het
Map3k13 C T 16: 21,922,322 R800W probably damaging Het
Mef2d T C 3: 88,167,731 L408P possibly damaging Het
Mmp10 T A 9: 7,503,300 M87K probably damaging Het
Mrgprd T A 7: 145,321,906 H171Q probably benign Het
Muc1 C T 3: 89,230,646 T265I possibly damaging Het
Myo15b A G 11: 115,860,113 N570D Het
Nfs1 T A 2: 156,126,323 I408F probably damaging Het
Npdc1 G T 2: 25,406,245 C48F probably damaging Het
Olfr137 A T 17: 38,305,331 N43K possibly damaging Het
Olfr459 A T 6: 41,771,744 L185H probably damaging Het
Olfr592 T C 7: 103,187,380 S260P probably damaging Het
Olfr676 T C 7: 105,035,210 I4T probably benign Het
Osbpl2 T C 2: 180,153,321 M332T probably benign Het
Ostm1 T A 10: 42,698,217 V302D probably damaging Het
Otof T C 5: 30,385,188 D672G probably benign Het
Plekha6 A T 1: 133,274,024 K392* probably null Het
Pnpla1 A T 17: 28,858,976 D37V probably damaging Het
Rasgrp1 A G 2: 117,298,545 S198P probably damaging Het
Reln A T 5: 21,971,934 N1911K probably damaging Het
Ripply3 C A 16: 94,335,900 A140E probably benign Het
Siglec1 A G 2: 131,086,095 C8R possibly damaging Het
Slamf6 T C 1: 171,919,793 S41P unknown Het
Slc15a5 A G 6: 138,073,057 M120T probably benign Het
Slc25a20 T G 9: 108,681,973 D179E possibly damaging Het
Sltm T A 9: 70,586,070 V783E probably damaging Het
Smc1b C A 15: 85,069,720 R1116L probably damaging Het
Smim23 A G 11: 32,824,471 V16A probably benign Het
Spata20 A G 11: 94,483,400 V348A probably benign Het
Spen T C 4: 141,473,741 D2525G probably damaging Het
St14 A C 9: 31,108,275 N83K probably benign Het
Stab1 T C 14: 31,157,384 N713S probably null Het
Syne1 A T 10: 5,218,580 L5267H probably benign Het
Tenm4 T C 7: 96,694,803 L271P probably damaging Het
Tfap2d C T 1: 19,142,926 H325Y possibly damaging Het
Trav23 A G 14: 53,977,563 R78G probably benign Het
Ttc39c A T 18: 12,643,799 probably benign Het
Unc79 A G 12: 103,104,630 D1228G probably damaging Het
Vmn1r66 T A 7: 10,274,947 H53L probably damaging Het
Vps13b A T 15: 35,378,900 L53F probably damaging Het
Zfp532 C T 18: 65,638,913 T834M possibly damaging Het
Other mutations in Gm4070
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Gm4070 APN 7 105896802 missense possibly damaging 0.52
IGL02657:Gm4070 APN 7 105896765 missense probably damaging 1.00
R0755:Gm4070 UTSW 7 105896685 missense possibly damaging 0.81
R6913:Gm4070 UTSW 7 105901980 nonsense probably null
R6914:Gm4070 UTSW 7 105901980 nonsense probably null
R6921:Gm4070 UTSW 7 105901980 nonsense probably null
R6941:Gm4070 UTSW 7 105901980 nonsense probably null
R6943:Gm4070 UTSW 7 105901980 nonsense probably null
R6944:Gm4070 UTSW 7 105901980 nonsense probably null
R6945:Gm4070 UTSW 7 105901980 nonsense probably null
R7208:Gm4070 UTSW 7 105902179 missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- TGGTGACCTCATATGTAGCCG -3'
(R):5'- AATGCTGGGAGGTTTCTGATCC -3'

Sequencing Primer
(F):5'- GGGGCCTCATTTTTGAAATTCAC -3'
(R):5'- GAGGTTTCTGATCCTGAAGAACAAC -3'
Posted On2019-09-13