Incidental Mutation 'R7641:Jmy'
ID 590260
Institutional Source Beutler Lab
Gene Symbol Jmy
Ensembl Gene ENSMUSG00000021690
Gene Name junction-mediating and regulatory protein
Synonyms
MMRRC Submission 045699-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R7641 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 93566609-93636316 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93579107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 675 (R675Q)
Ref Sequence ENSEMBL: ENSMUSP00000070339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065537]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065537
AA Change: R675Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070339
Gene: ENSMUSG00000021690
AA Change: R675Q

DomainStartEndE-ValueType
Pfam:WHAMM-JMY_N 5 55 6.2e-30 PFAM
low complexity region 77 94 N/A INTRINSIC
low complexity region 117 128 N/A INTRINSIC
low complexity region 152 181 N/A INTRINSIC
low complexity region 202 217 N/A INTRINSIC
Pfam:JMY 220 574 2.2e-175 PFAM
SCOP:d1jvr__ 794 816 4e-3 SMART
WH2 916 933 2.21e-2 SMART
low complexity region 964 975 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (52/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a T A 5: 121,657,370 (GRCm39) Q641L probably benign Het
Aknad1 A T 3: 108,679,291 (GRCm39) H474L probably benign Het
Alkal1 A T 1: 6,459,712 (GRCm39) Y96F probably damaging Het
Cars1 A G 7: 143,140,840 (GRCm39) probably null Het
Chtf18 A T 17: 25,941,249 (GRCm39) probably null Het
Cog2 C A 8: 125,264,621 (GRCm39) N333K probably damaging Het
Col6a5 T A 9: 105,758,625 (GRCm39) R2194* probably null Het
Dnah14 A T 1: 181,535,098 (GRCm39) I2355L probably benign Het
Dock8 G A 19: 25,151,697 (GRCm39) probably null Het
Dpy19l3 A C 7: 35,394,734 (GRCm39) D601E probably damaging Het
Elf1 G A 14: 79,808,163 (GRCm39) G205E probably damaging Het
Fsip2 A T 2: 82,817,256 (GRCm39) K4330* probably null Het
Gm6525 A T 3: 84,082,150 (GRCm39) T24S probably benign Het
Golga4 G T 9: 118,386,643 (GRCm39) R1255L probably benign Het
Gpn2 A T 4: 133,315,970 (GRCm39) Q243L probably null Het
Grb10 T C 11: 11,883,492 (GRCm39) K588E possibly damaging Het
Gys1 T C 7: 45,104,495 (GRCm39) S641P probably damaging Het
H2-M5 T A 17: 37,298,323 (GRCm39) M331L probably benign Het
Ighv6-6 T A 12: 114,398,837 (GRCm39) I10L probably benign Het
Lonp2 A T 8: 87,392,386 (GRCm39) Q484L probably benign Het
Map3k20 T A 2: 72,228,705 (GRCm39) L308H probably damaging Het
Mep1b T C 18: 21,228,034 (GRCm39) F546L possibly damaging Het
Mier1 A G 4: 102,996,637 (GRCm39) E133G possibly damaging Het
Msh3 C A 13: 92,349,011 (GRCm39) V1074L probably benign Het
Muc6 A T 7: 141,224,247 (GRCm39) L1645Q unknown Het
Nat10 G A 2: 103,573,435 (GRCm39) A354V probably damaging Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Pdyn A T 2: 129,531,748 (GRCm39) V14E possibly damaging Het
Prdm16 T A 4: 154,429,901 (GRCm39) H356L probably damaging Het
Rasa3 A G 8: 13,634,961 (GRCm39) C453R probably benign Het
Rasgrf2 C T 13: 92,267,914 (GRCm39) S30N possibly damaging Het
Rlf A G 4: 121,016,393 (GRCm39) S315P probably damaging Het
Rusc2 C T 4: 43,425,335 (GRCm39) R1147W possibly damaging Het
Sacs T A 14: 61,440,320 (GRCm39) Y789N probably damaging Het
Sap130 T C 18: 31,786,676 (GRCm39) L289P probably damaging Het
Septin3 A G 15: 82,174,983 (GRCm39) Y308C probably damaging Het
Slc2a12 A G 10: 22,569,893 (GRCm39) D528G probably damaging Het
Slc2a13 A G 15: 91,156,359 (GRCm39) *638Q probably null Het
Smchd1 T A 17: 71,697,474 (GRCm39) E1155D probably benign Het
Sorcs2 G A 5: 36,555,296 (GRCm39) R32C probably damaging Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Tonsl C T 15: 76,517,852 (GRCm39) D650N probably damaging Het
Tti1 A T 2: 157,850,949 (GRCm39) F97I possibly damaging Het
Ttn T C 2: 76,572,554 (GRCm39) Q26113R possibly damaging Het
Unc5d A T 8: 29,210,003 (GRCm39) N444K probably damaging Het
Usp17la A T 7: 104,510,654 (GRCm39) K420* probably null Het
Vmn2r114 T C 17: 23,527,177 (GRCm39) N452D possibly damaging Het
Vps16 T C 2: 130,282,448 (GRCm39) V427A probably benign Het
Wdr5b T A 16: 35,862,712 (GRCm39) V277D probably damaging Het
Zan T A 5: 137,465,370 (GRCm39) M462L possibly damaging Het
Zfp40 A G 17: 23,397,257 (GRCm39) V80A possibly damaging Het
Zfp930 A T 8: 69,681,337 (GRCm39) H344L probably damaging Het
Other mutations in Jmy
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00798:Jmy APN 13 93,577,910 (GRCm39) missense probably benign 0.00
IGL00949:Jmy APN 13 93,590,510 (GRCm39) missense probably damaging 1.00
IGL01111:Jmy APN 13 93,577,529 (GRCm39) missense probably damaging 1.00
IGL01734:Jmy APN 13 93,596,159 (GRCm39) missense probably damaging 1.00
IGL01926:Jmy APN 13 93,596,294 (GRCm39) missense probably damaging 1.00
IGL01985:Jmy APN 13 93,596,144 (GRCm39) missense possibly damaging 0.58
IGL02183:Jmy APN 13 93,635,750 (GRCm39) missense possibly damaging 0.78
IGL02517:Jmy APN 13 93,589,316 (GRCm39) missense probably benign 0.01
IGL02524:Jmy APN 13 93,609,268 (GRCm39) missense probably damaging 1.00
IGL02697:Jmy APN 13 93,596,209 (GRCm39) nonsense probably null
IGL03024:Jmy APN 13 93,635,707 (GRCm39) missense probably damaging 1.00
R0242:Jmy UTSW 13 93,578,126 (GRCm39) missense probably benign 0.07
R0242:Jmy UTSW 13 93,578,126 (GRCm39) missense probably benign 0.07
R0623:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R0623:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R0722:Jmy UTSW 13 93,589,325 (GRCm39) missense probably benign 0.37
R1533:Jmy UTSW 13 93,577,819 (GRCm39) missense probably benign
R1667:Jmy UTSW 13 93,634,878 (GRCm39) missense probably damaging 1.00
R1737:Jmy UTSW 13 93,635,303 (GRCm39) missense probably damaging 0.99
R1815:Jmy UTSW 13 93,590,585 (GRCm39) missense probably damaging 1.00
R2057:Jmy UTSW 13 93,596,211 (GRCm39) missense probably damaging 1.00
R3522:Jmy UTSW 13 93,590,558 (GRCm39) missense probably damaging 1.00
R3765:Jmy UTSW 13 93,601,219 (GRCm39) missense possibly damaging 0.78
R4231:Jmy UTSW 13 93,635,433 (GRCm39) missense probably benign
R4279:Jmy UTSW 13 93,635,781 (GRCm39) missense probably damaging 1.00
R4279:Jmy UTSW 13 93,635,390 (GRCm39) missense probably damaging 1.00
R4330:Jmy UTSW 13 93,635,390 (GRCm39) missense probably damaging 1.00
R4330:Jmy UTSW 13 93,635,781 (GRCm39) missense probably damaging 1.00
R4845:Jmy UTSW 13 93,576,246 (GRCm39) missense possibly damaging 0.80
R5047:Jmy UTSW 13 93,578,080 (GRCm39) missense possibly damaging 0.65
R5403:Jmy UTSW 13 93,577,904 (GRCm39) missense probably benign 0.08
R5941:Jmy UTSW 13 93,635,333 (GRCm39) missense probably benign
R5953:Jmy UTSW 13 93,635,624 (GRCm39) missense possibly damaging 0.62
R6022:Jmy UTSW 13 93,590,086 (GRCm39) splice site probably null
R6150:Jmy UTSW 13 93,577,641 (GRCm39) missense probably benign 0.10
R6520:Jmy UTSW 13 93,590,547 (GRCm39) missense probably benign 0.10
R7073:Jmy UTSW 13 93,577,841 (GRCm39) missense probably benign 0.01
R7074:Jmy UTSW 13 93,590,439 (GRCm39) missense probably benign 0.15
R7325:Jmy UTSW 13 93,609,251 (GRCm39) missense probably damaging 0.99
R7575:Jmy UTSW 13 93,601,103 (GRCm39) nonsense probably null
R7674:Jmy UTSW 13 93,579,107 (GRCm39) missense probably damaging 1.00
R7862:Jmy UTSW 13 93,635,703 (GRCm39) missense possibly damaging 0.75
R8278:Jmy UTSW 13 93,601,224 (GRCm39) missense probably damaging 1.00
R8416:Jmy UTSW 13 93,634,949 (GRCm39) missense probably damaging 1.00
R8987:Jmy UTSW 13 93,589,397 (GRCm39) missense probably damaging 1.00
R9063:Jmy UTSW 13 93,635,580 (GRCm39) missense probably benign 0.22
R9196:Jmy UTSW 13 93,601,209 (GRCm39) missense probably damaging 1.00
R9255:Jmy UTSW 13 93,589,894 (GRCm39) critical splice donor site probably null
R9402:Jmy UTSW 13 93,635,678 (GRCm39) missense probably damaging 0.99
Z1088:Jmy UTSW 13 93,577,589 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATACTCAGGAGGTGGTGCTC -3'
(R):5'- TGACCACCGTGAACTTATTGG -3'

Sequencing Primer
(F):5'- TCCAAGGGCAAAGAATATTACTGCTG -3'
(R):5'- GCATTGTCAAAGATTTTGTTCAGTG -3'
Posted On 2019-10-24