Incidental Mutation 'R6963:Gm57858'
ID 543315
Institutional Source Beutler Lab
Gene Symbol Gm57858
Ensembl Gene ENSMUSG00000047696
Gene Name gene model 57858
Synonyms Ccdc144b
MMRRC Submission 045073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6963 (G1)
Quality Score 187.009
Status Validated
Chromosome 3
Chromosomal Location 36061396-36107696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36104811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 17 (Y17H)
Ref Sequence ENSEMBL: ENSMUSP00000142406 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166644] [ENSMUST00000196964] [ENSMUST00000200469]
AlphaFold E9PVZ3
Predicted Effect probably benign
Transcript: ENSMUST00000166644
AA Change: Y17H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: Y17H

DomainStartEndE-ValueType
coiled coil region 65 97 N/A INTRINSIC
coiled coil region 121 166 N/A INTRINSIC
coiled coil region 231 327 N/A INTRINSIC
Pfam:DUF3496 381 488 1.6e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196964
AA Change: Y17H

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: Y17H

DomainStartEndE-ValueType
coiled coil region 65 97 N/A INTRINSIC
coiled coil region 121 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200469
AA Change: Y17H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: Y17H

DomainStartEndE-ValueType
coiled coil region 65 97 N/A INTRINSIC
coiled coil region 121 166 N/A INTRINSIC
coiled coil region 231 327 N/A INTRINSIC
Pfam:DUF3496 381 488 1.6e-45 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh G A 5: 77,044,303 (GRCm39) H196Y probably damaging Het
Abi3 G A 11: 95,723,567 (GRCm39) probably benign Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Asgr1 T C 11: 69,946,794 (GRCm39) probably null Het
Atp2c2 C T 8: 120,457,006 (GRCm39) R203* probably null Het
Brms1 T A 19: 5,096,681 (GRCm39) I121N probably damaging Het
Ccdc149 G A 5: 52,596,439 (GRCm39) R58W probably damaging Het
D630003M21Rik T C 2: 158,042,228 (GRCm39) E906G probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fry A G 5: 150,381,309 (GRCm39) T444A probably benign Het
Ggn A G 7: 28,871,007 (GRCm39) E142G probably damaging Het
Gm5150 A G 3: 16,060,555 (GRCm39) probably benign Het
Gp2 A G 7: 119,052,120 (GRCm39) V198A probably benign Het
Gstm3 A G 3: 107,874,940 (GRCm39) V104A probably benign Het
Idua A G 5: 108,827,641 (GRCm39) K152E possibly damaging Het
Igsf21 A G 4: 139,755,041 (GRCm39) S443P probably benign Het
Kdm5d C A Y: 937,975 (GRCm39) Q925K probably benign Het
Ly6k G C 15: 74,670,431 (GRCm39) P37R probably damaging Het
Mcm9 A G 10: 53,424,713 (GRCm39) S626P probably damaging Het
Mcoln2 A G 3: 145,877,790 (GRCm39) K137R probably damaging Het
Mctp2 T C 7: 71,877,804 (GRCm39) N298S probably damaging Het
Myo10 T C 15: 25,734,149 (GRCm39) I379T probably benign Het
Myo15b G T 11: 115,781,540 (GRCm39) probably null Het
Nrg1 A G 8: 32,407,690 (GRCm39) F181S probably benign Het
Or5b24 C T 19: 12,913,002 (GRCm39) A300V probably damaging Het
Pals2 T C 6: 50,140,635 (GRCm39) probably null Het
Pde9a G T 17: 31,662,861 (GRCm39) V97L probably benign Het
Rfc5 T A 5: 117,525,931 (GRCm39) probably null Het
Rnf145 T C 11: 44,455,104 (GRCm39) S662P probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scfd2 A G 5: 74,642,870 (GRCm39) V359A probably damaging Het
Skp2 T C 15: 9,139,515 (GRCm39) probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tekt2 T C 4: 126,218,110 (GRCm39) E134G probably damaging Het
Ttll4 T A 1: 74,720,975 (GRCm39) I547K probably damaging Het
Vmn1r4 T C 6: 56,933,769 (GRCm39) I91T probably damaging Het
Vmn2r93 T C 17: 18,536,849 (GRCm39) S511P probably damaging Het
Vps50 T C 6: 3,592,577 (GRCm39) probably null Het
Zeb2 T G 2: 44,878,811 (GRCm39) E1141A probably damaging Het
Zfp1002 A G 2: 150,097,265 (GRCm39) C55R probably damaging Het
Zfp326 T A 5: 106,059,359 (GRCm39) Y373* probably null Het
Other mutations in Gm57858
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Gm57858 APN 3 36,074,138 (GRCm39) missense probably damaging 1.00
IGL00773:Gm57858 APN 3 36,089,486 (GRCm39) missense probably damaging 1.00
IGL01409:Gm57858 APN 3 36,080,077 (GRCm39) missense possibly damaging 0.77
IGL01791:Gm57858 APN 3 36,089,416 (GRCm39) critical splice donor site probably benign 0.00
IGL02307:Gm57858 APN 3 36,073,016 (GRCm39) missense possibly damaging 0.95
IGL02374:Gm57858 APN 3 36,074,108 (GRCm39) missense possibly damaging 0.83
IGL02673:Gm57858 APN 3 36,100,848 (GRCm39) splice site probably benign
IGL02727:Gm57858 APN 3 36,087,065 (GRCm39) missense possibly damaging 0.66
R0355:Gm57858 UTSW 3 36,101,054 (GRCm39) splice site probably benign
R0833:Gm57858 UTSW 3 36,074,362 (GRCm39) splice site probably benign
R0928:Gm57858 UTSW 3 36,079,515 (GRCm39) missense possibly damaging 0.83
R1595:Gm57858 UTSW 3 36,073,146 (GRCm39) missense probably damaging 0.99
R1598:Gm57858 UTSW 3 36,073,146 (GRCm39) missense probably damaging 0.99
R2011:Gm57858 UTSW 3 36,064,827 (GRCm39) nonsense probably null
R2255:Gm57858 UTSW 3 36,074,099 (GRCm39) missense probably benign 0.00
R2921:Gm57858 UTSW 3 36,080,077 (GRCm39) missense probably null 0.01
R4659:Gm57858 UTSW 3 36,080,103 (GRCm39) missense possibly damaging 0.90
R4764:Gm57858 UTSW 3 36,064,809 (GRCm39) makesense probably null
R4929:Gm57858 UTSW 3 36,089,487 (GRCm39) missense probably damaging 0.99
R5631:Gm57858 UTSW 3 36,101,026 (GRCm39) missense probably damaging 0.99
R5755:Gm57858 UTSW 3 36,071,842 (GRCm39) missense probably benign
R5849:Gm57858 UTSW 3 36,087,026 (GRCm39) missense possibly damaging 0.81
R5894:Gm57858 UTSW 3 36,074,124 (GRCm39) missense possibly damaging 0.91
R5968:Gm57858 UTSW 3 36,064,840 (GRCm39) missense probably benign 0.00
R6961:Gm57858 UTSW 3 36,104,766 (GRCm39) missense possibly damaging 0.66
R7248:Gm57858 UTSW 3 36,080,086 (GRCm39) missense probably benign 0.00
R7380:Gm57858 UTSW 3 36,080,070 (GRCm39) missense possibly damaging 0.68
R7462:Gm57858 UTSW 3 36,080,055 (GRCm39) splice site probably null
R7612:Gm57858 UTSW 3 36,079,506 (GRCm39) missense possibly damaging 0.79
R7637:Gm57858 UTSW 3 36,101,025 (GRCm39) missense probably damaging 0.98
R8025:Gm57858 UTSW 3 36,073,136 (GRCm39) missense probably damaging 0.97
R8269:Gm57858 UTSW 3 36,100,862 (GRCm39) missense possibly damaging 0.89
R8707:Gm57858 UTSW 3 36,073,070 (GRCm39) missense probably damaging 1.00
R8731:Gm57858 UTSW 3 36,089,434 (GRCm39) missense probably benign 0.14
R9047:Gm57858 UTSW 3 36,087,033 (GRCm39) missense probably benign 0.32
R9108:Gm57858 UTSW 3 36,080,036 (GRCm39) makesense probably null
R9193:Gm57858 UTSW 3 36,089,428 (GRCm39) missense probably benign 0.14
R9321:Gm57858 UTSW 3 36,073,139 (GRCm39) missense probably damaging 0.98
R9447:Gm57858 UTSW 3 36,074,195 (GRCm39) missense possibly damaging 0.83
R9694:Gm57858 UTSW 3 36,073,092 (GRCm39) missense possibly damaging 0.66
X0011:Gm57858 UTSW 3 36,080,097 (GRCm39) missense possibly damaging 0.66
X0057:Gm57858 UTSW 3 36,073,050 (GRCm39) nonsense probably null
Z1176:Gm57858 UTSW 3 36,073,037 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- CTTAAGTGTATAGCATGTCTCTGAC -3'
(R):5'- GAAATATTGGTTCATGGGTAGTTCC -3'

Sequencing Primer
(F):5'- TGTCTCTGACATGGCGGCAC -3'
(R):5'- GGTAGTTCCCTTCTGATGAAACATC -3'
Posted On 2018-11-28