Incidental Mutation 'R7989:Fam180a'
ID 651634
Institutional Source Beutler Lab
Gene Symbol Fam180a
Ensembl Gene ENSMUSG00000047420
Gene Name family with sequence similarity 180, member A
Synonyms
MMRRC Submission 046030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7989 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 35289678-35303076 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35292273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 44 (N44K)
Ref Sequence ENSEMBL: ENSMUSP00000051206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051176]
AlphaFold Q8BR21
Predicted Effect probably damaging
Transcript: ENSMUST00000051176
AA Change: N44K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051206
Gene: ENSMUSG00000047420
AA Change: N44K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:FAM180 28 163 6.6e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,875,278 (GRCm39) E631D probably benign Het
Abcc12 T C 8: 87,232,108 (GRCm39) T1317A probably benign Het
Abcc4 T C 14: 118,836,772 (GRCm39) Q663R probably benign Het
Arhgef28 G A 13: 98,036,243 (GRCm39) T1672I probably benign Het
Dnah3 A T 7: 119,677,012 (GRCm39) D496E probably benign Het
Dse A T 10: 34,029,454 (GRCm39) Y545* probably null Het
Eps8 C T 6: 137,505,569 (GRCm39) R53Q possibly damaging Het
Fam124b A T 1: 80,191,311 (GRCm39) L24Q probably damaging Het
Gabrg3 G T 7: 56,374,389 (GRCm39) N392K possibly damaging Het
Gprin2 G A 14: 33,916,661 (GRCm39) R370* probably null Het
Grhpr C T 4: 44,989,008 (GRCm39) P275S probably damaging Het
Hsf5 A G 11: 87,526,450 (GRCm39) Q374R probably benign Het
Igtp A C 11: 58,097,205 (GRCm39) K125N probably damaging Het
Il17a T C 1: 20,802,438 (GRCm39) V49A possibly damaging Het
Klhl12 T C 1: 134,417,143 (GRCm39) S552P probably benign Het
Or4c15 T C 2: 88,759,858 (GRCm39) D267G probably damaging Het
Or5d45 T A 2: 88,153,164 (GRCm39) N295I probably damaging Het
Pkd2l1 A T 19: 44,142,507 (GRCm39) C512S probably benign Het
Plekha7 G A 7: 115,757,558 (GRCm39) P464L probably benign Het
Plk5 A G 10: 80,199,899 (GRCm39) R469G probably benign Het
Pphln1 C A 15: 93,386,960 (GRCm39) H353N possibly damaging Het
Prkaa1 A G 15: 5,206,166 (GRCm39) N341D probably damaging Het
Skp2 C T 15: 9,127,979 (GRCm39) R129H probably benign Het
Slc5a6 A G 5: 31,199,480 (GRCm39) probably null Het
Spata31d1b C T 13: 59,866,182 (GRCm39) P1110L possibly damaging Het
Speer4a2 A T 5: 26,290,643 (GRCm39) L176Q probably damaging Het
Srgap2 A G 1: 131,226,170 (GRCm39) S368P Het
Tiam2 G T 17: 3,568,524 (GRCm39) E1557* probably null Het
Tmem200a C A 10: 25,869,955 (GRCm39) V105F probably benign Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Trio A G 15: 27,773,021 (GRCm39) L1881P probably damaging Het
Unc13a G A 8: 72,104,917 (GRCm39) R782W probably damaging Het
Usp32 A T 11: 84,925,126 (GRCm39) M117K Het
Zfp655 T A 5: 145,181,380 (GRCm39) C413S probably damaging Het
Other mutations in Fam180a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Fam180a APN 6 35,290,500 (GRCm39) missense probably benign 0.01
IGL02582:Fam180a APN 6 35,290,647 (GRCm39) missense possibly damaging 0.79
IGL02737:Fam180a APN 6 35,290,488 (GRCm39) missense probably benign 0.01
IGL02875:Fam180a APN 6 35,290,617 (GRCm39) missense probably damaging 1.00
R1768:Fam180a UTSW 6 35,292,287 (GRCm39) missense probably benign 0.36
R2070:Fam180a UTSW 6 35,302,846 (GRCm39) missense probably benign
R2940:Fam180a UTSW 6 35,290,564 (GRCm39) missense possibly damaging 0.86
R5789:Fam180a UTSW 6 35,290,461 (GRCm39) makesense probably null
R6340:Fam180a UTSW 6 35,292,322 (GRCm39) missense probably damaging 1.00
R6920:Fam180a UTSW 6 35,290,765 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TTGGTGTAAGCCAGAGTCCATC -3'
(R):5'- AGAGAGTCTGCTACTTCCCCTC -3'

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