Incidental Mutation 'R9198:Gm5111'
ID 698038
Institutional Source Beutler Lab
Gene Symbol Gm5111
Ensembl Gene ENSMUSG00000052730
Gene Name predicted gene 5111
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R9198 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48566379-48567518 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48567037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 84 (H84R)
Ref Sequence ENSEMBL: ENSMUSP00000064804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009420] [ENSMUST00000064744] [ENSMUST00000118229] [ENSMUST00000135151] [ENSMUST00000154010] [ENSMUST00000163452] [ENSMUST00000204121] [ENSMUST00000204521]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000009420
SMART Domains Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000064744
AA Change: H84R
SMART Domains Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
AA Change: H84R

DomainStartEndE-ValueType
low complexity region 160 174 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118229
SMART Domains Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135151
SMART Domains Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
Pfam:zf-C2H2_6 284 300 1.4e-1 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154010
SMART Domains Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163452
SMART Domains Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751

DomainStartEndE-ValueType
ZnF_C2H2 52 72 3.47e1 SMART
ZnF_C2H2 80 102 5.81e-2 SMART
ZnF_C2H2 111 133 5.5e-3 SMART
ZnF_C2H2 140 160 1.16e1 SMART
ZnF_C2H2 172 194 3.89e-3 SMART
low complexity region 196 224 N/A INTRINSIC
ZnF_C2H2 229 251 1.67e-2 SMART
ZnF_C2H2 257 279 4.94e-5 SMART
ZnF_C2H2 285 307 5.21e-4 SMART
ZnF_C2H2 353 375 4.72e-2 SMART
ZnF_C2H2 381 403 1.26e-2 SMART
ZnF_C2H2 409 431 1.79e-2 SMART
ZnF_C2H2 437 459 4.24e-4 SMART
ZnF_C2H2 465 487 6.52e-5 SMART
ZnF_C2H2 493 515 2.61e-4 SMART
ZnF_C2H2 521 543 1.45e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204121
Predicted Effect probably benign
Transcript: ENSMUST00000204521
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,583 (GRCm39) probably null Het
Adamts9 A T 6: 92,837,170 (GRCm39) S1164T probably benign Het
Bcat1 A T 6: 144,985,222 (GRCm39) I140N probably damaging Het
Bod1l T C 5: 41,957,129 (GRCm39) T2832A probably benign Het
Brca2 A T 5: 150,459,977 (GRCm39) E417D possibly damaging Het
Ccdc88b T C 19: 6,831,268 (GRCm39) D558G possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpf G T 1: 189,388,987 (GRCm39) T1615K probably damaging Het
Cep250 T C 2: 155,830,354 (GRCm39) probably null Het
Clec4d T C 6: 123,251,757 (GRCm39) F213S probably damaging Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Csmd1 G A 8: 15,962,430 (GRCm39) R3255W probably damaging Het
Ctsm T C 13: 61,687,612 (GRCm39) D82G probably damaging Het
Cyp26a1 A G 19: 37,686,790 (GRCm39) T81A probably damaging Het
Dld A G 12: 31,390,885 (GRCm39) V187A probably benign Het
Dmrt2 T A 19: 25,655,477 (GRCm39) Y359N probably benign Het
Dnah9 T C 11: 65,846,570 (GRCm39) N2914S probably benign Het
Dpyd A T 3: 118,553,303 (GRCm39) probably null Het
Fgl2 A C 5: 21,577,920 (GRCm39) Q69P probably damaging Het
Gadd45gip1 A T 8: 85,560,780 (GRCm39) I132F probably damaging Het
Gm15446 T C 5: 110,090,743 (GRCm39) C332R probably damaging Het
Gm15737 A T 6: 92,856,640 (GRCm39) E23V unknown Het
Golga3 G A 5: 110,355,619 (GRCm39) S991N probably benign Het
H2-M10.3 A G 17: 36,678,919 (GRCm39) Y50H probably damaging Het
Hivep2 C T 10: 14,005,621 (GRCm39) H740Y probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Ints7 T A 1: 191,351,872 (GRCm39) S860R probably benign Het
Lipi T A 16: 75,362,461 (GRCm39) T217S possibly damaging Het
Lrrc2 G T 9: 110,791,722 (GRCm39) C158F probably benign Het
Lrrc30 T C 17: 67,938,854 (GRCm39) D242G probably benign Het
Map1a A T 2: 121,133,854 (GRCm39) M1557L probably benign Het
Matn2 A G 15: 34,423,924 (GRCm39) E594G probably damaging Het
Mfsd12 T C 10: 81,198,544 (GRCm39) L345P probably damaging Het
Mmp24 A G 2: 155,640,041 (GRCm39) R124G probably benign Het
Ngef T A 1: 87,406,797 (GRCm39) H240L unknown Het
Nmur1 T G 1: 86,315,256 (GRCm39) D203A probably benign Het
Nt5c3 T C 6: 56,859,955 (GRCm39) Q328R probably benign Het
Ogfr T C 2: 180,232,850 (GRCm39) probably null Het
Or4k1 A T 14: 50,377,990 (GRCm39) Y35* probably null Het
Or52ac1 T A 7: 104,245,635 (GRCm39) Y251F probably damaging Het
Or5h19 A G 16: 58,856,263 (GRCm39) V279A probably benign Het
Osbpl10 G A 9: 115,061,211 (GRCm39) W588* probably null Het
Pask A T 1: 93,265,205 (GRCm39) S17T possibly damaging Het
Pfkfb3 C T 2: 11,491,084 (GRCm39) R170K probably damaging Het
Plec A G 15: 76,069,937 (GRCm39) C960R unknown Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rfx7 T C 9: 72,524,163 (GRCm39) L451P probably damaging Het
Rimbp2 T A 5: 128,883,552 (GRCm39) E76V probably damaging Het
Rock2 A G 12: 17,015,557 (GRCm39) N818S probably benign Het
Ryk A T 9: 102,758,854 (GRCm39) I248F possibly damaging Het
Setd2 A G 9: 110,378,168 (GRCm39) Q661R possibly damaging Het
Siae T C 9: 37,539,105 (GRCm39) V172A probably benign Het
Slc35f4 A G 14: 49,556,377 (GRCm39) S9P unknown Het
Smg1 T C 7: 117,795,179 (GRCm39) E456G unknown Het
Srgap3 C T 6: 112,743,865 (GRCm39) A458T probably damaging Het
Tgfbrap1 T A 1: 43,093,799 (GRCm39) R564S probably damaging Het
Usp15 A G 10: 123,004,143 (GRCm39) Y204H probably damaging Het
Usp35 A G 7: 96,962,276 (GRCm39) Y527H probably damaging Het
Usp8 T A 2: 126,600,524 (GRCm39) *1092K probably null Het
Vmn2r73 A T 7: 85,518,987 (GRCm39) M545K probably benign Het
Ylpm1 A T 12: 85,080,689 (GRCm39) probably null Het
Zscan22 G T 7: 12,641,130 (GRCm39) R458L probably damaging Het
Other mutations in Gm5111
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Gm5111 APN 6 48,566,620 (GRCm39) utr 5 prime probably benign
R1219:Gm5111 UTSW 6 48,567,328 (GRCm39) intron probably benign
R6261:Gm5111 UTSW 6 48,566,526 (GRCm39) unclassified probably benign
R6354:Gm5111 UTSW 6 48,567,268 (GRCm39) intron probably benign
R7701:Gm5111 UTSW 6 48,567,027 (GRCm39) missense unknown
R8867:Gm5111 UTSW 6 48,566,629 (GRCm39) critical splice donor site probably null
Z1176:Gm5111 UTSW 6 48,567,243 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTCTTGCTTTGCAACCCCAG -3'
(R):5'- TGAAGAAGCCTTGTGATGGG -3'

Sequencing Primer
(F):5'- GGTCCCTTGAATGCGAAGATTATC -3'
(R):5'- AAGCCTTGTGATGGGAGACTTTAAG -3'
Posted On 2022-02-07