Incidental Mutation 'RF051:Gm14399'
ID605136
Institutional Source Beutler Lab
Gene Symbol Gm14399
Ensembl Gene ENSMUSG00000090093
Gene Namepredicted gene 14399
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #RF051 (G1)
Quality Score109.008
Status Not validated
Chromosome2
Chromosomal Location175129493-175142012 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 175131201 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 254 (Q254E)
Ref Sequence ENSEMBL: ENSMUSP00000104688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099029] [ENSMUST00000108929] [ENSMUST00000109059] [ENSMUST00000109060] [ENSMUST00000109062]
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 benign
Transcript: ENSMUST00000109060
AA Change: Q254E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000104688
Gene: ENSMUSG00000090093
AA Change: Q254E

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnpy3 CTC CTCATC 17: 46,736,748 probably benign Het
Fam71e1 GGGTCTGAGGGAGGA GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA 7: 44,500,523 probably null Het
Gabre CTCCGG CTCCGGGTCCGG X: 72,270,049 probably benign Het
Hsdl2 TGC TGCCGGAGCAGCCACAGCGGC 4: 59,610,636 probably benign Het
Hsdl2 CAGCTGCAG CAGCTGCAGCAGCAGCCAAAGCTGCAG 4: 59,610,650 probably benign Het
Il2 GGG GGGGCTTGAAGTGGG 3: 37,125,841 probably benign Het
Kmt2c CCTTCT CCT 5: 25,313,479 probably benign Het
Manbal CGATAGAAT C 2: 157,396,012 probably null Het
Map1a CTCCAGCTCCAGCTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA 2: 121,306,296 probably benign Het
Mei1 GC GCTGGCTGCC 15: 82,070,010 probably null Het
Nbea TTTA T 3: 56,009,212 probably benign Het
Nefh TGGCC TGGCCGCACCTGGGGCCTCGGCC 11: 4,941,054 probably benign Het
Olfr1535 GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT 13: 21,555,523 probably null Het
Pde3b GGTGGTGGTG GGTGGTGGTGGTG 7: 114,534,775 probably benign Het
Plekhg2 GGTG GG 7: 28,362,352 probably null Het
Rassf6 AGCAATGGGGA AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA 5: 90,608,929 probably benign Het
Smarca2 AGCAGC AGCAGCCGCAGC 19: 26,630,988 probably benign Het
Stard8 GAG GAGCAG X: 99,066,524 probably benign Het
Tcof1 CTTGGC CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC 18: 60,833,579 probably benign Het
Tmem28 GCCGCC GCCGCCACCGCC X: 99,821,362 probably benign Het
Triobp AGCCCCAGGACTCCCTGTGCCCAACGG AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG 15: 78,967,034 probably benign Het
Usp2 C CTCATGTGACCTGTTCTTCACTTCT 9: 44,089,129 probably benign Het
Other mutations in Gm14399
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Gm14399 APN 2 175131522 nonsense probably null
R2185:Gm14399 UTSW 2 175131395 missense probably damaging 1.00
R3711:Gm14399 UTSW 2 175131510 nonsense probably null
R4907:Gm14399 UTSW 2 175131389 intron probably benign
R5361:Gm14399 UTSW 2 175131578 missense probably damaging 1.00
R7252:Gm14399 UTSW 2 175133198 missense probably damaging 0.98
R7278:Gm14399 UTSW 2 175130459 intron probably benign
R7289:Gm14399 UTSW 2 175130411 missense unknown
R7946:Gm14399 UTSW 2 175131480 missense probably damaging 1.00
R8390:Gm14399 UTSW 2 175130812 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGAATACTGCAAAGGCTTTACCACA -3'
(R):5'- TGCAAGAAGCTGTCATCTCC -3'

Sequencing Primer
(F):5'- CGCTCATGTATGTGGAGATGAC -3'
(R):5'- GAAGCTGTCATCTCCGAATGC -3'
Posted On2019-12-04