Incidental Mutation 'R5238:Fam181a'
ID 400535
Institutional Source Beutler Lab
Gene Symbol Fam181a
Ensembl Gene ENSMUSG00000096753
Gene Name family with sequence similarity 181, member A
Synonyms EG544888
MMRRC Submission 042809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5238 (G1)
Quality Score 202
Status Not validated
Chromosome 12
Chromosomal Location 103277272-103283326 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103282392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 99 (A99V)
Ref Sequence ENSEMBL: ENSMUSP00000140842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000179363] [ENSMUST00000189885] [ENSMUST00000191218]
AlphaFold J3QNB7
Predicted Effect probably benign
Transcript: ENSMUST00000179363
AA Change: A99V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136681
Gene: ENSMUSG00000096753
AA Change: A99V

DomainStartEndE-ValueType
Pfam:FAM181 1 280 9.5e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189885
AA Change: A99V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139607
Gene: ENSMUSG00000096753
AA Change: A99V

DomainStartEndE-ValueType
Pfam:FAM181 1 159 6e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189971
Predicted Effect probably benign
Transcript: ENSMUST00000191218
AA Change: A99V

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140842
Gene: ENSMUSG00000096753
AA Change: A99V

DomainStartEndE-ValueType
Pfam:FAM181 1 280 6.7e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191414
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b T A 12: 70,210,142 (GRCm39) probably null Het
Adamtsl5 C T 10: 80,181,192 (GRCm39) G63D probably damaging Het
Armc9 T A 1: 86,127,569 (GRCm39) M68K probably benign Het
Atad2 A C 15: 57,971,733 (GRCm39) H381Q possibly damaging Het
Bclaf1 T G 10: 20,208,130 (GRCm39) probably benign Het
Ccdc188 A G 16: 18,037,038 (GRCm39) E238G probably damaging Het
Cldn19 G T 4: 119,112,930 (GRCm39) C54F probably damaging Het
Clip1 T C 5: 123,785,946 (GRCm39) D246G probably damaging Het
Col20a1 T C 2: 180,640,379 (GRCm39) V512A probably damaging Het
Cyfip1 G T 7: 55,541,779 (GRCm39) A355S probably benign Het
Dffa T G 4: 149,188,760 (GRCm39) L18R probably benign Het
Dnah8 G A 17: 31,009,891 (GRCm39) E3761K probably damaging Het
Dusp10 A G 1: 183,769,210 (GRCm39) T59A possibly damaging Het
Eed T C 7: 89,626,173 (GRCm39) S67G probably benign Het
Gm12185 G A 11: 48,799,044 (GRCm39) T483I possibly damaging Het
Htr3b A T 9: 48,848,542 (GRCm39) C234* probably null Het
Kidins220 C A 12: 25,053,009 (GRCm39) T433K probably benign Het
Man2a1 T C 17: 64,943,502 (GRCm39) Y186H probably damaging Het
Mcm9 G T 10: 53,506,093 (GRCm39) S60R possibly damaging Het
Mst1r T A 9: 107,784,773 (GRCm39) C144S probably damaging Het
Nckap5 A G 1: 125,955,461 (GRCm39) C364R probably damaging Het
Nptx2 T C 5: 144,493,041 (GRCm39) I376T probably damaging Het
Or2a14 T C 6: 43,130,961 (GRCm39) S241P probably damaging Het
Otogl A T 10: 107,604,834 (GRCm39) C2191S probably damaging Het
Plxdc2 T A 2: 16,655,026 (GRCm39) F208L probably damaging Het
Robo3 A C 9: 37,328,175 (GRCm39) Y1339D probably damaging Het
Rsph9 G T 17: 46,446,008 (GRCm39) Y42* probably null Het
Slc39a1 T A 3: 90,156,702 (GRCm39) L86Q probably null Het
Slfn8 T C 11: 82,904,214 (GRCm39) D392G probably damaging Het
Tiprl A G 1: 165,043,337 (GRCm39) V263A probably benign Het
Tmub2 A G 11: 102,175,820 (GRCm39) probably benign Het
Trpm1 T A 7: 63,918,702 (GRCm39) F681I probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uba3 A T 6: 97,178,896 (GRCm39) C68* probably null Het
Vmn1r158 T A 7: 22,489,799 (GRCm39) M137L probably benign Het
Vmn1r50 C T 6: 90,084,465 (GRCm39) A70V possibly damaging Het
Wwc1 T C 11: 35,766,723 (GRCm39) K511E probably benign Het
Zfp600 T C 4: 146,131,741 (GRCm39) probably null Het
Zng1 G T 19: 24,897,994 (GRCm39) T382K probably damaging Het
Other mutations in Fam181a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1623:Fam181a UTSW 12 103,282,591 (GRCm39) nonsense probably null
R2164:Fam181a UTSW 12 103,282,785 (GRCm39) missense probably benign
R3237:Fam181a UTSW 12 103,282,348 (GRCm39) missense possibly damaging 0.95
R4208:Fam181a UTSW 12 103,282,173 (GRCm39) missense probably damaging 1.00
R5468:Fam181a UTSW 12 103,282,937 (GRCm39) missense probably benign
R6268:Fam181a UTSW 12 103,282,803 (GRCm39) missense possibly damaging 0.77
R6957:Fam181a UTSW 12 103,282,773 (GRCm39) missense probably damaging 0.97
R7100:Fam181a UTSW 12 103,282,132 (GRCm39) missense probably damaging 1.00
R7614:Fam181a UTSW 12 103,282,805 (GRCm39) missense probably damaging 1.00
R8075:Fam181a UTSW 12 103,282,296 (GRCm39) missense possibly damaging 0.60
R9150:Fam181a UTSW 12 103,282,139 (GRCm39) missense probably damaging 1.00
R9449:Fam181a UTSW 12 103,282,107 (GRCm39) missense probably damaging 1.00
R9620:Fam181a UTSW 12 103,282,591 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGTGGACCATCGCAAGTAC -3'
(R):5'- TATTCTCATACAAAGATGCCTCCC -3'

Sequencing Primer
(F):5'- TCGCAAGTACCTGCAGAAG -3'
(R):5'- ATACAAAGATGCCTCCCTGGGG -3'
Posted On 2016-07-06