Incidental Mutation 'R6284:Gm21994'
ID508090
Institutional Source Beutler Lab
Gene Symbol Gm21994
Ensembl Gene ENSMUSG00000074735
Gene Namepredicted gene 21994
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock #R6284 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location150254518-150255591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 150255278 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 77 (Y77F)
Ref Sequence ENSEMBL: ENSMUSP00000075719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063463] [ENSMUST00000109922]
Predicted Effect possibly damaging
Transcript: ENSMUST00000063463
AA Change: Y77F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075719
Gene: ENSMUSG00000074735
AA Change: Y77F

DomainStartEndE-ValueType
ZnF_C2H2 1 18 2.7e2 SMART
ZnF_C2H2 53 73 2.75e1 SMART
ZnF_C2H2 77 99 6.42e-4 SMART
ZnF_C2H2 132 154 1.58e-3 SMART
ZnF_C2H2 160 182 1.12e-3 SMART
ZnF_C2H2 188 210 4.01e-5 SMART
ZnF_C2H2 216 238 3.16e-3 SMART
ZnF_C2H2 244 266 8.94e-3 SMART
ZnF_C2H2 272 294 9.58e-3 SMART
ZnF_C2H2 300 322 1.95e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109922
SMART Domains Protein: ENSMUSP00000105548
Gene: ENSMUSG00000079008

DomainStartEndE-ValueType
KRAB 4 66 9.26e-19 SMART
ZnF_C2H2 103 125 7.49e-5 SMART
ZnF_C2H2 131 151 9.46e0 SMART
ZnF_C2H2 159 181 5.9e-3 SMART
ZnF_C2H2 187 209 6.67e-2 SMART
ZnF_C2H2 215 237 4.87e-4 SMART
ZnF_C2H2 243 265 2.82e0 SMART
ZnF_C2H2 271 293 2.2e2 SMART
ZnF_C2H2 299 321 1.4e-4 SMART
ZnF_C2H2 327 349 1.6e-4 SMART
ZnF_C2H2 355 377 1.18e-2 SMART
ZnF_C2H2 383 405 1.38e-3 SMART
ZnF_C2H2 411 433 9.56e1 SMART
ZnF_C2H2 439 461 6.99e-5 SMART
ZnF_C2H2 467 489 2.99e-4 SMART
ZnF_C2H2 495 517 7.78e-3 SMART
ZnF_C2H2 523 545 1.04e-3 SMART
ZnF_C2H2 551 573 1.6e-4 SMART
ZnF_C2H2 579 601 1.18e-2 SMART
ZnF_C2H2 607 629 4.54e-4 SMART
ZnF_C2H2 635 657 4.24e-4 SMART
ZnF_C2H2 663 685 1.2e-3 SMART
ZnF_C2H2 691 713 8.47e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,347,454 G16C probably damaging Het
Abca7 G A 10: 80,004,410 V801I probably benign Het
Adgrl2 A T 3: 148,826,507 L1030Q probably damaging Het
Akap1 T C 11: 88,844,568 T423A possibly damaging Het
Anpep T A 7: 79,825,802 D111V probably damaging Het
Atm T A 9: 53,445,376 probably null Het
Atp5a1 T A 18: 77,778,468 S106T probably benign Het
Atp5k T C 5: 108,434,059 I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 probably null Het
Bclaf1 T G 10: 20,322,160 probably null Het
Bod1l A G 5: 41,818,787 V1728A probably benign Het
Braf A G 6: 39,688,282 F51L possibly damaging Het
Camsap2 A G 1: 136,304,437 I140T possibly damaging Het
Ccdc24 A T 4: 117,869,653 probably null Het
Cdh26 G C 2: 178,449,884 G79R probably damaging Het
Cenpf A G 1: 189,652,742 L2447P probably damaging Het
Cfap74 T C 4: 155,451,796 F863L probably damaging Het
Clstn2 C T 9: 97,454,674 G917S probably benign Het
Col6a6 A T 9: 105,727,227 probably null Het
Cul5 G A 9: 53,623,735 P596L probably damaging Het
Dst A T 1: 34,229,085 R2863W probably damaging Het
Dthd1 A G 5: 62,814,041 E69G possibly damaging Het
Erich2 T A 2: 70,539,684 I402N probably damaging Het
Fam160a1 G A 3: 85,672,688 P737S probably benign Het
Fam162b T C 10: 51,585,502 K155R probably damaging Het
Glb1l2 A T 9: 26,767,448 S466T probably benign Het
Gm5724 T C 6: 141,725,393 D451G probably damaging Het
Ikbkap A T 4: 56,762,281 I1106K probably damaging Het
Kazn G A 4: 142,117,197 L402F probably benign Het
Kcnj13 A T 1: 87,386,886 S205T probably damaging Het
Lama1 T A 17: 67,810,096 V2462E probably damaging Het
Lce1b A C 3: 92,656,104 C41G unknown Het
Lyar T A 5: 38,225,995 W77R probably damaging Het
March11 G A 15: 26,409,346 R377Q probably benign Het
Mis18bp1 A G 12: 65,138,787 F869L probably benign Het
Myom1 T A 17: 71,022,892 Y6* probably null Het
Myzap T C 9: 71,558,925 I150V probably benign Het
Nop14 C T 5: 34,641,491 probably null Het
Oprl1 T A 2: 181,717,991 probably benign Het
Pacsin1 T C 17: 27,708,504 L432P probably damaging Het
Peak1 A G 9: 56,260,296 L116P probably benign Het
Plcb2 C T 2: 118,717,301 V482M probably benign Het
Pnliprp1 T A 19: 58,734,984 I269N probably damaging Het
Pnpla7 C A 2: 25,016,618 D664E possibly damaging Het
Ppa2 G A 3: 133,370,417 R269H probably benign Het
Rps6kb2 G T 19: 4,161,187 T113K probably benign Het
Rrp7a A T 15: 83,121,860 I63N probably damaging Het
Slc29a1 A G 17: 45,589,921 probably null Het
Stxbp5 A C 10: 9,767,179 S1059A probably benign Het
Stxbp5 C A 10: 9,767,187 G1056V probably damaging Het
Taldo1 T A 7: 141,398,583 S149T possibly damaging Het
Tlr1 T C 5: 64,927,099 D45G possibly damaging Het
Tnrc6a T C 7: 123,171,335 S783P probably damaging Het
Trap1 A G 16: 4,060,809 Y220H probably benign Het
Trpc6 A G 9: 8,643,600 D462G possibly damaging Het
Ttc21a A G 9: 119,943,962 E235G probably damaging Het
Tubb4a A G 17: 57,080,833 Y398H probably damaging Het
Ube2z A G 11: 96,050,407 F303S probably damaging Het
Vmn1r211 A G 13: 22,852,084 S138P probably damaging Het
Zfp93 T A 7: 24,275,629 C346* probably null Het
Zfp938 A T 10: 82,227,566 S52R possibly damaging Het
Zp1 A T 19: 10,916,503 L446Q probably damaging Het
Other mutations in Gm21994
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6648_Gm21994_337 UTSW 2 150255177 missense probably benign 0.01
R0853:Gm21994 UTSW 2 150255478 missense probably benign 0.30
R5135:Gm21994 UTSW 2 150255490 nonsense probably null
R5161:Gm21994 UTSW 2 150255215 missense probably damaging 0.99
R5782:Gm21994 UTSW 2 150255518 missense probably benign 0.41
R6019:Gm21994 UTSW 2 150255212 missense probably damaging 1.00
R6476:Gm21994 UTSW 2 150255326 missense probably benign 0.00
R6479:Gm21994 UTSW 2 150254591 missense probably damaging 0.99
R6648:Gm21994 UTSW 2 150255177 missense probably benign 0.01
R6736:Gm21994 UTSW 2 150255278 missense possibly damaging 0.95
R6963:Gm21994 UTSW 2 150255345 missense probably damaging 1.00
R7014:Gm21994 UTSW 2 150255262 nonsense probably null
R7138:Gm21994 UTSW 2 150255452 missense probably damaging 1.00
R7625:Gm21994 UTSW 2 150254600 missense probably benign 0.05
R7855:Gm21994 UTSW 2 150255146 missense probably benign 0.00
R7938:Gm21994 UTSW 2 150255146 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAAAGGGTTTCTCTCCAGTATGTG -3'
(R):5'- TTCAACTTGGGAAGAAAGCCTATG -3'

Sequencing Primer
(F):5'- TTCTCTCCAGTATGTGTTCTTTTATG -3'
(R):5'- TGGGAAGAAAGCCTATGTATTTCAG -3'
Posted On2018-03-15