Incidental Mutation 'R8364:Fam110a'
ID 646086
Institutional Source Beutler Lab
Gene Symbol Fam110a
Ensembl Gene ENSMUSG00000027459
Gene Name family with sequence similarity 110, member A
Synonyms 1700008J10Rik, 5430432M24Rik
MMRRC Submission 067873-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R8364 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 151811318-151822096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 151812338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 144 (R144H)
Ref Sequence ENSEMBL: ENSMUSP00000053266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062047] [ENSMUST00000109863] [ENSMUST00000109864] [ENSMUST00000109865]
AlphaFold Q8R184
Predicted Effect probably damaging
Transcript: ENSMUST00000062047
AA Change: R144H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053266
Gene: ENSMUSG00000027459
AA Change: R144H

DomainStartEndE-ValueType
Pfam:FAM110_N 4 103 1.8e-39 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 182 288 4.8e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109863
AA Change: R144H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105489
Gene: ENSMUSG00000027459
AA Change: R144H

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109864
AA Change: R144H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105490
Gene: ENSMUSG00000027459
AA Change: R144H

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109865
AA Change: R144H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105491
Gene: ENSMUSG00000027459
AA Change: R144H

DomainStartEndE-ValueType
Pfam:FAM110_N 2 104 3.9e-41 PFAM
low complexity region 137 155 N/A INTRINSIC
Pfam:FAM110_C 180 289 1.7e-42 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,815,396 (GRCm39) N761K probably damaging Het
Amotl1 G A 9: 14,556,218 (GRCm39) A36V probably benign Het
Apol7a A G 15: 77,273,820 (GRCm39) V214A possibly damaging Het
Arhgef25 G T 10: 127,025,632 (GRCm39) Q3K unknown Het
Bpifc A T 10: 85,797,891 (GRCm39) I456N probably damaging Het
Cers6 C T 2: 68,692,083 (GRCm39) A35V possibly damaging Het
Corin T A 5: 72,462,274 (GRCm39) Y986F probably benign Het
Csmd3 A T 15: 48,536,837 (GRCm39) Y122N probably damaging Het
Ddit4l T A 3: 137,329,996 (GRCm39) L18* probably null Het
Epb41l3 T C 17: 69,573,429 (GRCm39) probably null Het
Greb1l G T 18: 10,529,687 (GRCm39) V890L possibly damaging Het
Hivep3 A T 4: 119,956,639 (GRCm39) M1652L probably benign Het
Ighv1-19 G T 12: 114,672,546 (GRCm39) Q25K possibly damaging Het
Itprid2 T C 2: 79,481,787 (GRCm39) L489P probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Krr1 A G 10: 111,813,104 (GRCm39) R160G probably damaging Het
Lama3 A G 18: 12,661,404 (GRCm39) D515G probably damaging Het
Lars2 G T 9: 123,241,019 (GRCm39) G229* probably null Het
Lgalsl T A 11: 20,781,009 (GRCm39) M1L possibly damaging Het
Lrtm2 T A 6: 119,294,259 (GRCm39) T291S probably benign Het
Morc2b G A 17: 33,357,214 (GRCm39) T186I probably benign Het
Mup20 G T 4: 61,969,768 (GRCm39) S157R probably damaging Het
Nlgn1 A G 3: 25,490,140 (GRCm39) V529A probably benign Het
Nps T A 7: 134,870,543 (GRCm39) W22R probably benign Het
Nradd C A 9: 110,450,536 (GRCm39) V214L probably damaging Het
Ogfrl1 G A 1: 23,414,824 (GRCm39) Q228* probably null Het
Or10g9 T C 9: 39,911,660 (GRCm39) T288A probably benign Het
Or56a3b T A 7: 104,770,910 (GRCm39) I82N probably damaging Het
Or5m11b G A 2: 85,806,358 (GRCm39) C257Y possibly damaging Het
Ripor2 A G 13: 24,894,176 (GRCm39) T735A possibly damaging Het
Rnase6 C A 14: 51,367,910 (GRCm39) P101T probably benign Het
Slc34a2 A T 5: 53,225,716 (GRCm39) Y455F possibly damaging Het
Stxbp1 T C 2: 32,696,774 (GRCm39) M330V possibly damaging Het
Sypl2 T C 3: 108,125,050 (GRCm39) T104A possibly damaging Het
Tenm4 G A 7: 96,421,313 (GRCm39) probably null Het
Tnfrsf11a C A 1: 105,745,412 (GRCm39) T150K probably damaging Het
Tpsg1 T C 17: 25,593,230 (GRCm39) L311P possibly damaging Het
Ttc7b T C 12: 100,291,817 (GRCm39) S766G probably benign Het
Vmn2r83 A G 10: 79,316,037 (GRCm39) T478A probably benign Het
Wdr1 G A 5: 38,685,192 (GRCm39) T593I possibly damaging Het
Zfp407 A G 18: 84,570,993 (GRCm39) probably null Het
Zfp872 G A 9: 22,111,540 (GRCm39) G340R probably damaging Het
Other mutations in Fam110a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:Fam110a UTSW 2 151,812,006 (GRCm39) missense probably benign 0.02
R0321:Fam110a UTSW 2 151,812,587 (GRCm39) missense probably benign 0.01
R0546:Fam110a UTSW 2 151,812,732 (GRCm39) missense probably benign
R0569:Fam110a UTSW 2 151,812,404 (GRCm39) missense probably damaging 0.97
R1761:Fam110a UTSW 2 151,812,125 (GRCm39) missense probably benign 0.13
R1842:Fam110a UTSW 2 151,811,954 (GRCm39) missense probably damaging 0.99
R2173:Fam110a UTSW 2 151,812,429 (GRCm39) missense probably damaging 1.00
R5447:Fam110a UTSW 2 151,812,629 (GRCm39) missense probably damaging 1.00
R5825:Fam110a UTSW 2 151,811,961 (GRCm39) missense probably damaging 1.00
R7033:Fam110a UTSW 2 151,812,131 (GRCm39) missense probably damaging 1.00
R7128:Fam110a UTSW 2 151,812,642 (GRCm39) missense probably damaging 1.00
R8790:Fam110a UTSW 2 151,812,338 (GRCm39) missense probably damaging 1.00
R8951:Fam110a UTSW 2 151,812,461 (GRCm39) missense probably damaging 0.96
R9390:Fam110a UTSW 2 151,812,116 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- AAAGCGCTCAAGATCGGCTG -3'
(R):5'- TAAGTACGTCAAGAGCCTGC -3'

Sequencing Primer
(F):5'- TGCTGCCCTGGAAAAGC -3'
(R):5'- TACGTCAAGAGCCTGCGTGTG -3'
Posted On 2020-09-02