Incidental Mutation 'R2185:Gm14399'
ID 237806
Institutional Source Beutler Lab
Gene Symbol Gm14399
Ensembl Gene ENSMUSG00000090093
Gene Name predicted gene 14399
Synonyms
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R2185 (G1)
Quality Score 175
Status Validated
Chromosome 2
Chromosomal Location 174971286-174983805 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 174973188 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 189 (C189F)
Ref Sequence ENSEMBL: ENSMUSP00000104688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099029] [ENSMUST00000108929] [ENSMUST00000109059] [ENSMUST00000109060] [ENSMUST00000109062]
AlphaFold A2ARW8
Predicted Effect probably benign
Transcript: ENSMUST00000099029
SMART Domains Protein: ENSMUSP00000096627
Gene: ENSMUSG00000090093

DomainStartEndE-ValueType
KRAB 3 63 1.37e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108929
SMART Domains Protein: ENSMUSP00000104557
Gene: ENSMUSG00000090093

DomainStartEndE-ValueType
ZnF_C2H2 46 65 1.61e2 SMART
ZnF_C2H2 71 93 4.17e-3 SMART
ZnF_C2H2 99 121 3.83e-2 SMART
ZnF_C2H2 127 149 8.6e-5 SMART
ZnF_C2H2 155 177 1.69e-3 SMART
ZnF_C2H2 183 205 7.37e-4 SMART
ZnF_C2H2 211 233 4.94e-5 SMART
ZnF_C2H2 239 261 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109059
SMART Domains Protein: ENSMUSP00000104687
Gene: ENSMUSG00000090093

DomainStartEndE-ValueType
KRAB 4 64 1.37e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109060
AA Change: C189F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104688
Gene: ENSMUSG00000090093
AA Change: C189F

DomainStartEndE-ValueType
KRAB 4 66 1.84e-13 SMART
ZnF_C2H2 78 97 1.61e2 SMART
ZnF_C2H2 103 125 4.17e-3 SMART
ZnF_C2H2 131 153 3.83e-2 SMART
ZnF_C2H2 159 181 8.6e-5 SMART
ZnF_C2H2 187 209 4.17e-3 SMART
ZnF_C2H2 215 237 6.08e-5 SMART
ZnF_C2H2 243 265 5.99e-4 SMART
ZnF_C2H2 271 293 8.02e-5 SMART
ZnF_C2H2 299 321 3.83e-2 SMART
ZnF_C2H2 327 349 5.14e-3 SMART
ZnF_C2H2 355 377 5.14e-3 SMART
ZnF_C2H2 383 405 9.08e-4 SMART
ZnF_C2H2 411 433 1.69e-3 SMART
ZnF_C2H2 439 461 7.37e-4 SMART
ZnF_C2H2 467 489 9.08e-4 SMART
ZnF_C2H2 495 517 2.57e-3 SMART
ZnF_C2H2 523 545 7.78e-3 SMART
ZnF_C2H2 551 573 4.94e-5 SMART
ZnF_C2H2 579 601 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109062
SMART Domains Protein: ENSMUSP00000104690
Gene: ENSMUSG00000090093

DomainStartEndE-ValueType
KRAB 4 66 1.27e-16 SMART
low complexity region 80 91 N/A INTRINSIC
Meta Mutation Damage Score 0.7885 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Ccdc168 G A 1: 44,100,541 (GRCm39) H186Y probably benign Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Gm14399
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Gm14399 APN 2 174,973,315 (GRCm39) nonsense probably null
R3711:Gm14399 UTSW 2 174,973,303 (GRCm39) nonsense probably null
R4907:Gm14399 UTSW 2 174,973,182 (GRCm39) intron probably benign
R5361:Gm14399 UTSW 2 174,973,371 (GRCm39) missense probably damaging 1.00
R7252:Gm14399 UTSW 2 174,974,991 (GRCm39) missense probably damaging 0.98
R7278:Gm14399 UTSW 2 174,972,252 (GRCm39) intron probably benign
R7289:Gm14399 UTSW 2 174,972,204 (GRCm39) missense unknown
R7946:Gm14399 UTSW 2 174,973,273 (GRCm39) missense probably damaging 1.00
R8390:Gm14399 UTSW 2 174,972,605 (GRCm39) nonsense probably null
RF051:Gm14399 UTSW 2 174,972,994 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACTGCTTTGTGAAAAGGC -3'
(R):5'- AGCCTTTGCATATGAGAGTGG -3'

Sequencing Primer
(F):5'- GACTGCTTTGTGAAAAGGCTTTACC -3'
(R):5'- GGACTTTAGAACATGGAATGTCCTGC -3'
Posted On 2014-10-02