Incidental Mutation 'R0928:Gm57858'
ID 80616
Institutional Source Beutler Lab
Gene Symbol Gm57858
Ensembl Gene ENSMUSG00000047696
Gene Name gene model 57858
Synonyms Ccdc144b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0928 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 36061396-36107696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 36079515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 258 (N258K)
Ref Sequence ENSEMBL: ENSMUSP00000142910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166644] [ENSMUST00000196964] [ENSMUST00000200469]
AlphaFold E9PVZ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000062056
AA Change: N258K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058450
Gene: ENSMUSG00000047696
AA Change: N258K

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 382 485 4.1e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124469
Predicted Effect possibly damaging
Transcript: ENSMUST00000166644
AA Change: N258K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: N258K

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
SMART Domains Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696

DomainStartEndE-ValueType
coiled coil region 65 97 N/A INTRINSIC
coiled coil region 121 166 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200469
AA Change: N258K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: N258K

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: 99.2%
  • 3x: 98.1%
  • 10x: 93.0%
  • 20x: 75.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,388,333 (GRCm39) D179V probably benign Het
Abcc1 T C 16: 14,207,849 (GRCm39) probably null Het
Adad1 G A 3: 37,130,889 (GRCm39) probably null Het
Apobec4 T C 1: 152,632,028 (GRCm39) Y19H probably damaging Het
Bco2 T A 9: 50,457,231 (GRCm39) T104S probably damaging Het
Bnc1 A G 7: 81,623,250 (GRCm39) V659A probably benign Het
Ccdc168 C A 1: 44,096,388 (GRCm39) S1570I possibly damaging Het
Ccs T C 19: 4,875,988 (GRCm39) E184G probably damaging Het
Cfap70 T G 14: 20,493,987 (GRCm39) K97N probably damaging Het
Cracdl T C 1: 37,663,663 (GRCm39) D745G possibly damaging Het
Daam2 T C 17: 49,795,255 (GRCm39) I313V probably benign Het
Dach1 T C 14: 98,153,268 (GRCm39) S467G probably damaging Het
Dnah11 A G 12: 118,009,297 (GRCm39) S2122P probably damaging Het
Dnah3 T A 7: 119,629,274 (GRCm39) D1427V probably damaging Het
Dnai1 T C 4: 41,602,566 (GRCm39) F97L possibly damaging Het
Dsc1 A T 18: 20,243,306 (GRCm39) probably null Het
En2 A T 5: 28,375,329 (GRCm39) K291* probably null Het
Eps15 T C 4: 109,170,160 (GRCm39) V154A possibly damaging Het
Etnk1 A G 6: 143,130,429 (GRCm39) I183V probably benign Het
Fcrlb A T 1: 170,735,509 (GRCm39) V255D possibly damaging Het
Fry A T 5: 150,360,549 (GRCm39) E52V probably damaging Het
Garre1 A T 7: 33,947,671 (GRCm39) probably null Het
Gtf2h4 T C 17: 35,981,777 (GRCm39) Y152C probably damaging Het
Hao1 C A 2: 134,347,536 (GRCm39) L256F possibly damaging Het
Helz T A 11: 107,517,519 (GRCm39) I685K probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Izumo2 A T 7: 44,364,847 (GRCm39) I171F possibly damaging Het
Krt87 C A 15: 101,389,161 (GRCm39) C57F probably benign Het
Mapkbp1 A G 2: 119,845,849 (GRCm39) H400R probably benign Het
Megf6 T A 4: 154,261,504 (GRCm39) V43E probably damaging Het
Mmut T C 17: 41,248,174 (GRCm39) I67T probably benign Het
Ninl A T 2: 150,805,395 (GRCm39) V396E probably damaging Het
Nvl A T 1: 180,921,467 (GRCm39) V844E probably benign Het
Or2b6 C T 13: 21,823,126 (GRCm39) C189Y probably damaging Het
P2rx3 A T 2: 84,865,642 (GRCm39) M1K probably null Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Ppp3r2 C A 4: 49,681,439 (GRCm39) probably null Het
Prmt6 C T 3: 110,157,998 (GRCm39) G97D probably damaging Het
Prmt9 T C 8: 78,307,805 (GRCm39) V823A probably damaging Het
Skic3 T G 13: 76,261,711 (GRCm39) L142W probably damaging Het
Skint11 C A 4: 114,101,798 (GRCm39) D79E possibly damaging Het
Slc17a8 T A 10: 89,434,545 (GRCm39) H194L probably damaging Het
Slco6c1 T A 1: 97,032,573 (GRCm39) I293F possibly damaging Het
Tcl1b4 A T 12: 105,168,865 (GRCm39) H43L probably benign Het
Tm9sf1 T C 14: 55,873,914 (GRCm39) D528G probably damaging Het
Tpbpb C T 13: 61,049,989 (GRCm39) V47I probably benign Het
Ttn G T 2: 76,737,876 (GRCm39) probably benign Het
Usp28 T G 9: 48,942,191 (GRCm39) S341A possibly damaging Het
Vwa5a T C 9: 38,639,303 (GRCm39) Y345H probably damaging Het
Wdr11 C A 7: 129,208,377 (GRCm39) D377E probably damaging Het
Zer1 A G 2: 29,991,775 (GRCm39) 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
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
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'- CGCTGGAGGCTCATTCATCCCC -3'
(R):5'- ACTGCATACAAAAGTACACGGCTGC -3'

Sequencing Primer
(F):5'- CCCACGGGTGTGTGAGTG -3'
(R):5'- gggaggaaagaggggaagg -3'
Posted On 2013-11-07