Incidental Mutation 'IGL02631:Fam149b'
ID 301306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam149b
Ensembl Gene ENSMUSG00000039599
Gene Name family with sequence similarity 149, member B
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.287) question?
Stock # IGL02631
Quality Score
Status
Chromosome 14
Chromosomal Location 20398230-20433559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20425614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 300 (V300M)
Ref Sequence ENSEMBL: ENSMUSP00000056907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051915] [ENSMUST00000090499] [ENSMUST00000090503] [ENSMUST00000225991] [ENSMUST00000225942] [ENSMUST00000225834] [ENSMUST00000225597] [ENSMUST00000224721]
AlphaFold Q6NSV7
Predicted Effect probably damaging
Transcript: ENSMUST00000051915
AA Change: V300M

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056907
Gene: ENSMUSG00000039599
AA Change: V300M

DomainStartEndE-ValueType
Pfam:DUF3719 116 183 2.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090499
AA Change: V354M

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000087985
Gene: ENSMUSG00000039599
AA Change: V354M

DomainStartEndE-ValueType
Pfam:DUF3719 116 181 1.5e-28 PFAM
low complexity region 369 383 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090503
AA Change: V261M

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087989
Gene: ENSMUSG00000039599
AA Change: V261M

DomainStartEndE-ValueType
Pfam:DUF3719 116 157 5.7e-14 PFAM
low complexity region 276 290 N/A INTRINSIC
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224670
Predicted Effect possibly damaging
Transcript: ENSMUST00000225991
AA Change: V150M

PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225363
Predicted Effect probably benign
Transcript: ENSMUST00000225942
AA Change: V354M

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000225834
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225837
Predicted Effect probably benign
Transcript: ENSMUST00000225597
Predicted Effect probably benign
Transcript: ENSMUST00000224721
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 A G 6: 113,725,506 (GRCm39) S1242P probably damaging Het
Bglap A T 3: 88,290,987 (GRCm39) Y81* probably null Het
Ccdc83 T C 7: 89,893,277 (GRCm39) D160G possibly damaging Het
Cep97 A T 16: 55,742,541 (GRCm39) C135* probably null Het
Cog1 C T 11: 113,547,304 (GRCm39) Q633* probably null Het
Cyp4f40 A T 17: 32,894,609 (GRCm39) probably benign Het
Dennd2c T A 3: 103,063,387 (GRCm39) M608K possibly damaging Het
Enpp1 A G 10: 24,517,859 (GRCm39) S855P probably damaging Het
Eprs1 T C 1: 185,160,095 (GRCm39) I1457T probably damaging Het
Fcgbp T A 7: 27,784,723 (GRCm39) L261Q probably damaging Het
Flt1 G T 5: 147,610,384 (GRCm39) S413* probably null Het
Flt3 T G 5: 147,281,362 (GRCm39) D790A probably damaging Het
Gpat2 A G 2: 127,276,152 (GRCm39) probably benign Het
Gpr151 T C 18: 42,711,835 (GRCm39) K281R probably benign Het
Hoxa5 G A 6: 52,180,790 (GRCm39) R181C probably damaging Het
Irx4 C T 13: 73,416,596 (GRCm39) R331W probably damaging Het
Lmo2 T C 2: 103,811,432 (GRCm39) I155T probably benign Het
Nbeal2 G A 9: 110,459,276 (GRCm39) R1944C probably damaging Het
Obp2b A G 2: 25,629,255 (GRCm39) N141S probably damaging Het
Or4c10b T A 2: 89,711,599 (GRCm39) V143E possibly damaging Het
Or4c3d T A 2: 89,881,786 (GRCm39) N294I probably damaging Het
Papss2 T A 19: 32,611,404 (GRCm39) probably benign Het
Rapgef2 A T 3: 78,990,533 (GRCm39) M915K possibly damaging Het
Raver2 A C 4: 100,953,499 (GRCm39) D89A probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Setd2 A G 9: 110,379,644 (GRCm39) D1153G possibly damaging Het
Slc25a12 C T 2: 71,127,086 (GRCm39) G365E possibly damaging Het
Slc35e4 A C 11: 3,857,729 (GRCm39) V292G probably damaging Het
Slc36a4 T C 9: 15,638,237 (GRCm39) V221A probably damaging Het
Slc7a14 C A 3: 31,292,827 (GRCm39) A153S probably damaging Het
Smc1b T C 15: 84,991,204 (GRCm39) D658G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab3 A G X: 84,658,139 (GRCm39) N222S probably benign Het
Tdrd6 T A 17: 43,937,110 (GRCm39) T1313S probably damaging Het
Tnfrsf1b A T 4: 144,951,398 (GRCm39) C181S probably damaging Het
Trdn A T 10: 33,239,972 (GRCm39) probably null Het
Trip12 A T 1: 84,743,729 (GRCm39) V526E possibly damaging Het
Trps1 T C 15: 50,709,417 (GRCm39) D311G probably damaging Het
Ttf1 A G 2: 28,959,912 (GRCm39) I507V probably damaging Het
Unc80 A C 1: 66,569,222 (GRCm39) D959A probably damaging Het
Unc93b1 T C 19: 3,992,026 (GRCm39) probably benign Het
Utrn A G 10: 12,585,807 (GRCm39) F990S probably benign Het
V1rd19 T C 7: 23,702,825 (GRCm39) L97P probably damaging Het
Other mutations in Fam149b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Fam149b APN 14 20,427,949 (GRCm39) missense possibly damaging 0.78
IGL02323:Fam149b APN 14 20,413,369 (GRCm39) missense possibly damaging 0.94
IGL03208:Fam149b APN 14 20,401,370 (GRCm39) splice site probably benign
R0334:Fam149b UTSW 14 20,413,492 (GRCm39) missense probably damaging 0.97
R2511:Fam149b UTSW 14 20,428,524 (GRCm39) missense probably damaging 1.00
R2566:Fam149b UTSW 14 20,425,578 (GRCm39) missense probably damaging 0.97
R4659:Fam149b UTSW 14 20,417,941 (GRCm39) missense probably benign 0.16
R5011:Fam149b UTSW 14 20,413,439 (GRCm39) missense possibly damaging 0.92
R5013:Fam149b UTSW 14 20,413,439 (GRCm39) missense possibly damaging 0.92
R5583:Fam149b UTSW 14 20,413,368 (GRCm39) missense possibly damaging 0.66
R5791:Fam149b UTSW 14 20,401,394 (GRCm39) missense probably damaging 0.96
R5905:Fam149b UTSW 14 20,409,978 (GRCm39) missense probably benign 0.30
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R6035:Fam149b UTSW 14 20,427,985 (GRCm39) missense probably damaging 1.00
R7180:Fam149b UTSW 14 20,431,853 (GRCm39) missense probably benign 0.01
R7210:Fam149b UTSW 14 20,428,540 (GRCm39) missense probably damaging 0.99
R7976:Fam149b UTSW 14 20,427,852 (GRCm39) missense probably damaging 0.98
R8529:Fam149b UTSW 14 20,408,370 (GRCm39) splice site probably null
R8971:Fam149b UTSW 14 20,402,777 (GRCm39) missense probably benign 0.30
R9743:Fam149b UTSW 14 20,413,411 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16