Incidental Mutation 'R5631:Gm57858'
ID 439841
Institutional Source Beutler Lab
Gene Symbol Gm57858
Ensembl Gene ENSMUSG00000047696
Gene Name gene model 57858
Synonyms Ccdc144b
MMRRC Submission 043282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5631 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36061396-36107696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 36101026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 49 (Q49E)
Ref Sequence ENSEMBL: ENSMUSP00000142910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166644] [ENSMUST00000196964] [ENSMUST00000200469]
AlphaFold E9PVZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000166644
AA Change: Q49E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: Q49E

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: Q49E

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: Q49E

DomainStartEndE-ValueType
coiled coil region 65 97 N/A INTRINSIC
coiled coil region 121 166 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200469
AA Change: Q49E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: Q49E

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C A 11: 72,067,590 (GRCm39) V567L possibly damaging Het
Abraxas1 T G 5: 100,965,840 (GRCm39) Y68S probably damaging Het
Adamtsl1 C T 4: 86,195,160 (GRCm39) Q543* probably null Het
Anapc1 T C 2: 128,499,137 (GRCm39) Y845C possibly damaging Het
Ap4m1 A G 5: 138,173,051 (GRCm39) *98W probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cramp1 T A 17: 25,204,577 (GRCm39) T275S possibly damaging Het
Dock3 T C 9: 106,832,898 (GRCm39) S1038G probably benign Het
Fancm T C 12: 65,160,617 (GRCm39) V1397A probably damaging Het
Fn1 T C 1: 71,629,355 (GRCm39) T2203A probably damaging Het
Heatr5a T A 12: 52,002,310 (GRCm39) I209F probably benign Het
Hfm1 A G 5: 107,052,629 (GRCm39) S285P probably damaging Het
Hpx A T 7: 105,244,808 (GRCm39) C126S probably damaging Het
Ipo4 A G 14: 55,869,526 (GRCm39) V378A probably damaging Het
Ipo4 C T 14: 55,870,838 (GRCm39) V265I probably benign Het
Kcnv1 T A 15: 44,972,753 (GRCm39) T377S probably damaging Het
Kmt2a A T 9: 44,731,985 (GRCm39) probably benign Het
Ldlrad3 T C 2: 101,900,301 (GRCm39) D67G probably damaging Het
Lrrc71 T A 3: 87,646,456 (GRCm39) M535L probably benign Het
Mfhas1 G A 8: 36,055,573 (GRCm39) R16Q probably damaging Het
Mrc1 A T 2: 14,333,383 (GRCm39) K1355* probably null Het
Mrgprf A G 7: 144,862,283 (GRCm39) I282V probably benign Het
Mvb12b G T 2: 33,717,715 (GRCm39) P142Q probably damaging Het
Naip6 T C 13: 100,436,646 (GRCm39) I626V probably benign Het
Ncoa5 T C 2: 164,855,041 (GRCm39) D27G possibly damaging Het
Nrap T G 19: 56,342,553 (GRCm39) E780A probably benign Het
Oplah T C 15: 76,189,441 (GRCm39) I228V probably benign Het
Or5w1b A T 2: 87,475,952 (GRCm39) S172T probably benign Het
Pkdrej T C 15: 85,704,638 (GRCm39) M433V probably benign Het
Polr3h T A 15: 81,810,113 (GRCm39) probably benign Het
Ppfibp1 T C 6: 146,898,358 (GRCm39) Y105H probably damaging Het
Rplp2 A C 7: 141,031,172 (GRCm39) probably benign Het
Rps6ka4 T C 19: 6,808,345 (GRCm39) probably benign Het
Rspry1 A T 8: 95,355,706 (GRCm39) M1L possibly damaging Het
Runx1 C A 16: 92,492,451 (GRCm39) R64L possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Slc9a5 C T 8: 106,076,141 (GRCm39) H45Y possibly damaging Het
Smc4 T C 3: 68,937,645 (GRCm39) I890T probably benign Het
Smtnl1 T C 2: 84,649,098 (GRCm39) E52G probably benign Het
Stag3 T A 5: 138,294,139 (GRCm39) I319N probably damaging Het
Stt3b G A 9: 115,083,913 (GRCm39) T421I probably benign Het
Thumpd1 A G 7: 119,319,825 (GRCm39) L47P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b T C 14: 16,409,882 (GRCm38) Y850H probably damaging Het
Trim34a A T 7: 103,897,946 (GRCm39) E158V probably damaging Het
Trp53i13 C A 11: 77,400,419 (GRCm39) probably null Het
Ugt3a1 T C 15: 9,361,971 (GRCm39) V249A probably damaging Het
Vmn1r128 G A 7: 21,083,300 (GRCm39) M1I probably null Het
Yars1 T G 4: 129,103,542 (GRCm39) L297R probably damaging Het
Yju2b G T 8: 84,990,510 (GRCm39) Q41K probably damaging Het
Zkscan3 A G 13: 21,578,703 (GRCm39) L176P probably damaging 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
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
R6963:Gm57858 UTSW 3 36,104,811 (GRCm39) missense probably benign 0.30
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'- TAAGCTGTCCCTGTAACTGCC -3'
(R):5'- GATGCAAACTCGATTTTCCTCC -3'

Sequencing Primer
(F):5'- GGAGCTGACGTCATACCTTACATTG -3'
(R):5'- AAACTCGATTTTCCTCCCCCAG -3'
Posted On 2016-11-08