Incidental Mutation 'R1842:Fam110a'
ID 205802
Institutional Source Beutler Lab
Gene Symbol Fam110a
Ensembl Gene ENSMUSG00000027459
Gene Name family with sequence similarity 110, member A
Synonyms 1700008J10Rik, 5430432M24Rik
MMRRC Submission 039867-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R1842 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 151811318-151822096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 151811954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 272 (I272N)
Ref Sequence ENSEMBL: ENSMUSP00000105491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062047] [ENSMUST00000109863] [ENSMUST00000109864] [ENSMUST00000109865]
AlphaFold Q8R184
Predicted Effect probably damaging
Transcript: ENSMUST00000062047
AA Change: I272N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053266
Gene: ENSMUSG00000027459
AA Change: I272N

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: I272N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105489
Gene: ENSMUSG00000027459
AA Change: I272N

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: I272N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105490
Gene: ENSMUSG00000027459
AA Change: I272N

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: I272N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105491
Gene: ENSMUSG00000027459
AA Change: I272N

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 noncoding transcript
Transcript: ENSMUST00000157866
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 G T 11: 110,087,865 (GRCm39) N1087K probably benign Het
Abcc3 G A 11: 94,250,438 (GRCm39) T921I probably benign Het
Abr T A 11: 76,399,812 (GRCm39) I4F probably damaging Het
Adcy10 T A 1: 165,330,812 (GRCm39) V25D probably damaging Het
Ahnak T A 19: 8,983,231 (GRCm39) M1505K probably damaging Het
Alms1-ps2 T C 6: 85,773,231 (GRCm39) noncoding transcript Het
Apob C G 12: 8,061,559 (GRCm39) T3347S probably damaging Het
Arhgap27 C A 11: 103,230,822 (GRCm39) G11W probably damaging Het
Ccdc110 A T 8: 46,393,605 (GRCm39) I106F probably damaging Het
Ccdc28b T A 4: 129,514,806 (GRCm39) D101V probably damaging Het
Ccdc30 T C 4: 119,188,324 (GRCm39) E566G probably benign Het
Cenpm T C 15: 82,123,565 (GRCm39) S111G probably benign Het
Cep55 A G 19: 38,046,348 (GRCm39) I34V probably benign Het
Dcdc2a T C 13: 25,291,585 (GRCm39) L190S probably damaging Het
Dhh T C 15: 98,792,441 (GRCm39) probably null Het
Dst A G 1: 34,203,200 (GRCm39) N703S probably null Het
E030025P04Rik G A 11: 109,030,396 (GRCm39) L164F unknown Het
Efcab5 A G 11: 77,025,701 (GRCm39) V538A probably benign Het
Egflam A G 15: 7,333,422 (GRCm39) S177P probably benign Het
Ehbp1l1 A T 19: 5,775,958 (GRCm39) C31S probably damaging Het
Eif2d C A 1: 131,098,797 (GRCm39) Q532K probably damaging Het
Elf3 T C 1: 135,184,531 (GRCm39) D175G possibly damaging Het
F5 T C 1: 164,012,129 (GRCm39) V449A probably damaging Het
Fbxo34 A G 14: 47,768,464 (GRCm39) D608G probably damaging Het
Flrt2 T C 12: 95,746,058 (GRCm39) L132P probably damaging Het
Frg2f1 A T 4: 119,388,277 (GRCm39) V74D possibly damaging Het
Gad1 G T 2: 70,404,597 (GRCm39) E162D probably benign Het
Glb1l A G 1: 75,177,104 (GRCm39) V444A probably damaging Het
Gm10770 G A 2: 150,021,076 (GRCm39) T147I probably damaging Het
Gm43302 T C 5: 105,425,602 (GRCm39) I276V probably benign Het
Greb1 T C 12: 16,746,244 (GRCm39) H1314R probably damaging Het
Hapln2 A G 3: 87,931,308 (GRCm39) V69A probably damaging Het
Hcn1 T C 13: 118,112,544 (GRCm39) I836T probably damaging Het
Hspa5 A G 2: 34,665,815 (GRCm39) D553G probably damaging Het
Iqgap1 A T 7: 80,410,631 (GRCm39) I194N probably damaging Het
Kansl3 A G 1: 36,390,825 (GRCm39) V304A probably damaging Het
Kdm5d C T Y: 927,798 (GRCm39) S716L probably damaging Het
Klra6 T C 6: 129,999,573 (GRCm39) T132A probably benign Het
Krt26 CTAGTA CTA 11: 99,224,352 (GRCm39) probably benign Het
Lrp1 A G 10: 127,409,337 (GRCm39) I1594T possibly damaging Het
Lrp2bp A G 8: 46,464,152 (GRCm39) D15G probably benign Het
Map4k1 T C 7: 28,686,588 (GRCm39) L170P probably damaging Het
Mast3 A G 8: 71,233,037 (GRCm39) F1108L possibly damaging Het
Mettl5 G T 2: 69,715,686 (GRCm39) L6I unknown Het
Mfsd14a A T 3: 116,426,057 (GRCm39) F447I possibly damaging Het
Mrc2 A G 11: 105,228,546 (GRCm39) I642V probably damaging Het
Necap1 A G 6: 122,851,547 (GRCm39) Y7C probably damaging Het
Nsd1 G A 13: 55,394,258 (GRCm39) E723K probably damaging Het
Nsun3 A T 16: 62,596,755 (GRCm39) L121H probably damaging Het
Nsun6 A T 2: 15,014,288 (GRCm39) M284K probably damaging Het
Nutf2 T C 8: 106,603,242 (GRCm39) probably null Het
Odad2 A T 18: 7,223,551 (GRCm39) D497E probably benign Het
Or1j20 A T 2: 36,759,601 (GRCm39) N8Y probably damaging Het
Or5d38 A T 2: 87,954,471 (GRCm39) M286K probably damaging Het
Pacs1 T C 19: 5,205,912 (GRCm39) E288G probably damaging Het
Peg10 A T 6: 4,756,381 (GRCm39) probably benign Het
Rab38 G A 7: 88,099,730 (GRCm39) E82K possibly damaging Het
Rgsl1 T A 1: 153,675,543 (GRCm39) E206V probably damaging Het
Saxo5 T A 8: 3,533,668 (GRCm39) F295L possibly damaging Het
Scube3 G A 17: 28,384,063 (GRCm39) V521I probably damaging Het
Sgpp1 C T 12: 75,762,982 (GRCm39) V400M probably damaging Het
Slc18b1 T C 10: 23,681,891 (GRCm39) S152P possibly damaging Het
Slit1 A T 19: 41,709,477 (GRCm39) probably null Het
Spata31d1e T C 13: 59,890,320 (GRCm39) Y82C probably damaging Het
Spta1 A G 1: 174,023,513 (GRCm39) K640R probably benign Het
Svil A G 18: 5,062,373 (GRCm39) T898A probably damaging Het
Timm44 A G 8: 4,310,510 (GRCm39) probably null Het
Tomm40 A G 7: 19,447,650 (GRCm39) S127P probably benign Het
Vmn2r23 T A 6: 123,706,649 (GRCm39) V493D possibly damaging Het
Yeats2 T C 16: 19,989,988 (GRCm39) V288A probably damaging Het
Zfhx4 C T 3: 5,466,558 (GRCm39) R2239W probably damaging Het
Zscan2 A C 7: 80,525,301 (GRCm39) K341Q 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
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
R8364:Fam110a UTSW 2 151,812,338 (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'- TGCTGGTCTAAGTCTTGGCC -3'
(R):5'- TAACTTCTGTGGCCTGGACC -3'

Sequencing Primer
(F):5'- ATTCACCCAAGAGTCTCTGGG -3'
(R):5'- CCTGGACCCAGAGGAAGC -3'
Posted On 2014-06-23