Incidental Mutation 'R7979:Gm30191'
ID 651068
Institutional Source Beutler Lab
Gene Symbol Gm30191
Ensembl Gene ENSMUSG00000108398
Gene Name predicted gene, 30191
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # R7979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133974246-133977353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133977223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 145 (D145G)
Ref Sequence ENSEMBL: ENSMUSP00000145697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030644] [ENSMUST00000060050] [ENSMUST00000122952] [ENSMUST00000124452] [ENSMUST00000125921] [ENSMUST00000131447] [ENSMUST00000135228] [ENSMUST00000205501] [ENSMUST00000143448] [ENSMUST00000144222]
AlphaFold A0A0U1RNT7
Predicted Effect probably benign
Transcript: ENSMUST00000030644
SMART Domains Protein: ENSMUSP00000030644
Gene: ENSMUSG00000028840

DomainStartEndE-ValueType
low complexity region 40 60 N/A INTRINSIC
ZnF_C2H2 61 85 6.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060050
SMART Domains Protein: ENSMUSP00000060143
Gene: ENSMUSG00000050105

DomainStartEndE-ValueType
Pfam:FAM110_N 5 79 1.4e-14 PFAM
Pfam:FAM110_C 141 262 1.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122952
Predicted Effect probably benign
Transcript: ENSMUST00000124452
Predicted Effect probably benign
Transcript: ENSMUST00000125921
Predicted Effect probably benign
Transcript: ENSMUST00000131447
Predicted Effect probably benign
Transcript: ENSMUST00000135228
Predicted Effect possibly damaging
Transcript: ENSMUST00000205501
AA Change: D145G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000143448
Predicted Effect probably benign
Transcript: ENSMUST00000144222
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A T 5: 8,186,804 (GRCm39) probably null Het
Ahnak A T 19: 8,988,796 (GRCm39) D3360V probably damaging Het
Akap9 T C 5: 4,100,381 (GRCm39) L2681P probably benign Het
Ankrd52 C A 10: 128,217,857 (GRCm39) A279E probably damaging Het
Arhgef4 T C 1: 34,760,978 (GRCm39) L78P unknown Het
Cfap300 T A 9: 8,027,111 (GRCm39) E142D possibly damaging Het
Chpf A T 1: 75,453,904 (GRCm39) C291* probably null Het
Cr1l T C 1: 194,800,030 (GRCm39) T215A probably damaging Het
Ctc1 A T 11: 68,918,209 (GRCm39) K444* probably null Het
Dscaml1 T C 9: 45,595,029 (GRCm39) S711P probably damaging Het
Elavl4 A T 4: 110,068,845 (GRCm39) V176D probably benign Het
Faim2 A G 15: 99,408,515 (GRCm39) V251A possibly damaging Het
Fancg A G 4: 43,004,963 (GRCm39) I410T probably damaging Het
Frmd3 G A 4: 74,071,852 (GRCm39) V245I probably damaging Het
Gls T C 1: 52,230,271 (GRCm39) H480R probably damaging Het
Grik2 T C 10: 49,280,438 (GRCm39) I438V probably benign Het
Klhl3 G T 13: 58,211,611 (GRCm39) Q197K probably benign Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Mmp23 G A 4: 155,736,462 (GRCm39) T193I possibly damaging Het
Mmrn1 T C 6: 60,952,961 (GRCm39) V414A probably damaging Het
Mmrn2 C T 14: 34,118,138 (GRCm39) Q61* probably null Het
Mprip G A 11: 59,657,682 (GRCm39) R852H probably damaging Het
Nars2 A C 7: 96,711,868 (GRCm39) N461T probably damaging Het
Nomo1 A G 7: 45,690,986 (GRCm39) N124S probably null Het
Or1e17 G T 11: 73,831,401 (GRCm39) V110F probably benign Het
Or1j17 A G 2: 36,578,106 (GRCm39) I31V probably benign Het
Peak1 T A 9: 56,114,676 (GRCm39) N1422Y possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pfkm G A 15: 98,026,117 (GRCm39) E571K probably damaging Het
Ptpn2 A T 18: 67,814,641 (GRCm39) C123S possibly damaging Het
Raph1 G A 1: 60,565,148 (GRCm39) T113I probably benign Het
Rsf1 A G 7: 97,334,920 (GRCm39) E1351G Het
Serinc4 C T 2: 121,285,793 (GRCm39) V163I probably benign Het
Slc7a2 G T 8: 41,357,541 (GRCm39) G270C probably damaging Het
Smc2 G A 4: 52,450,857 (GRCm39) R225Q probably damaging Het
Tas2r140 T C 6: 40,468,601 (GRCm39) S144P probably damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tmem156 T C 5: 65,237,352 (GRCm39) T103A possibly damaging Het
Tns3 A T 11: 8,442,701 (GRCm39) M554K probably benign Het
Tpp2 A T 1: 43,979,297 (GRCm39) I65F probably benign Het
Trank1 T A 9: 111,206,967 (GRCm39) M1700K probably benign Het
Ttc39c T A 18: 12,866,022 (GRCm39) H473Q probably benign Het
Vmn2r68 A C 7: 84,883,625 (GRCm39) probably null Het
Wnk1 T C 6: 120,014,409 (GRCm39) D62G probably damaging Het
Wnk2 A T 13: 49,248,884 (GRCm39) M389K probably damaging Het
Zfp292 G A 4: 34,809,198 (GRCm39) T1287M probably benign Het
Zfp451 G A 1: 33,821,219 (GRCm39) S211L probably benign Het
Zfp710 T C 7: 79,738,327 (GRCm39) S626P unknown Het
Zfp787 C T 7: 6,146,094 (GRCm39) E16K probably damaging Het
Zfp788 G T 7: 41,284,324 (GRCm39) probably null Het
Other mutations in Gm30191
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8758:Gm30191 UTSW 4 133,977,099 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGGGCCATCCTGCTGAC -3'
(R):5'- ACTGAGTGTCAATCCAGACGAT -3'

Sequencing Primer
(F):5'- ATCCTGCTGACCCCCTG -3'
(R):5'- GTCAATCCAGACGATTTTATGGGAG -3'
Posted On 2020-09-15