Incidental Mutation 'R7892:Gm14444'
ID 609372
Institutional Source Beutler Lab
Gene Symbol Gm14444
Ensembl Gene ENSMUSG00000078906
Gene Name predicted gene 14444
Synonyms
MMRRC Submission 045944-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7892 (G1)
Quality Score 90.0077
Status Not validated
Chromosome 2
Chromosomal Location 174858456-174861241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 174858524 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 33 (M33L)
Ref Sequence ENSEMBL: ENSMUSP00000104697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109069] [ENSMUST00000109070]
AlphaFold A2ARW3
Predicted Effect probably damaging
Transcript: ENSMUST00000109069
AA Change: M33L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104697
Gene: ENSMUSG00000078906
AA Change: M33L

DomainStartEndE-ValueType
KRAB 4 64 1.1e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109070
AA Change: M33L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104698
Gene: ENSMUSG00000078906
AA Change: M33L

DomainStartEndE-ValueType
KRAB 4 66 1.47e-12 SMART
ZnF_C2H2 78 97 2.2e2 SMART
ZnF_C2H2 103 125 7.78e-3 SMART
ZnF_C2H2 131 153 2.12e-4 SMART
ZnF_C2H2 159 181 2.99e-4 SMART
ZnF_C2H2 187 209 2.53e-2 SMART
ZnF_C2H2 215 237 4.87e-4 SMART
ZnF_C2H2 243 265 1.12e-3 SMART
ZnF_C2H2 271 293 4.54e-4 SMART
ZnF_C2H2 299 321 3.04e-5 SMART
ZnF_C2H2 327 349 4.87e-4 SMART
ZnF_C2H2 355 377 1.03e-2 SMART
Pfam:zf-C2H2_6 410 426 8.3e-3 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A G 16: 14,436,349 (GRCm39) E134G Het
Acsm4 G A 7: 119,293,889 (GRCm39) V87M possibly damaging Het
Adamts3 T C 5: 90,009,288 (GRCm39) N125S probably benign Het
Arhgef4 A G 1: 34,760,885 (GRCm39) E47G unknown Het
C1ra A G 6: 124,496,374 (GRCm39) M367V probably benign Het
Ces2b T C 8: 105,559,385 (GRCm39) W84R probably damaging Het
Clca3a1 T C 3: 144,436,579 (GRCm39) T835A probably benign Het
Cmya5 T C 13: 93,232,865 (GRCm39) E741G probably damaging Het
Cspg4b C T 13: 113,456,140 (GRCm39) R729C Het
D330020A13Rik T C 6: 120,271,819 (GRCm39) L165P unknown Het
Dtnbp1 A T 13: 45,075,765 (GRCm39) L326* probably null Het
Ecpas T C 4: 58,828,593 (GRCm39) I947V probably benign Het
Fat4 A T 3: 39,003,588 (GRCm39) probably null Het
Fbxl9 A T 8: 106,042,165 (GRCm39) I221N possibly damaging Het
Fuom T A 7: 139,679,492 (GRCm39) I143F unknown Het
Hmcn1 T C 1: 150,540,643 (GRCm39) T2889A probably benign Het
Kif5b G A 18: 6,212,517 (GRCm39) T769M probably benign Het
Kif9 G A 9: 110,343,682 (GRCm39) R567H not run Het
Kmt2c A T 5: 25,504,814 (GRCm39) M3498K probably benign Het
Ly6e T A 15: 74,829,700 (GRCm39) L15* probably null Het
Malt1 G A 18: 65,597,187 (GRCm39) probably null Het
Msantd5 G A 11: 51,125,613 (GRCm39) E179K possibly damaging Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Oacyl T C 18: 65,870,918 (GRCm39) L373P probably benign Het
Or10d1 A C 9: 39,483,845 (GRCm39) S237A possibly damaging Het
Or4b1d T C 2: 89,968,836 (GRCm39) I216V probably benign Het
Or5b116 T A 19: 13,422,662 (GRCm39) C95* probably null Het
Or5b21 C T 19: 12,839,843 (GRCm39) R235* probably null Het
Pcdh20 A T 14: 88,704,867 (GRCm39) L811* probably null Het
Pgrmc2 A T 3: 41,037,415 (GRCm39) D5E probably damaging Het
Pign A C 1: 105,585,401 (GRCm39) F49L probably benign Het
Pip5k1b T C 19: 24,337,457 (GRCm39) D277G probably benign Het
Ppm1m A G 9: 106,075,895 (GRCm39) V11A probably benign Het
Prl7a1 A T 13: 27,817,661 (GRCm39) V201E not run Het
Samhd1 A G 2: 156,958,415 (GRCm39) S269P probably damaging Het
Sik2 A G 9: 50,920,132 (GRCm39) V15A probably damaging Het
Slc4a7 G A 14: 14,773,348 (GRCm38) E773K probably benign Het
Sntg1 T C 1: 8,853,024 (GRCm39) D42G probably damaging Het
Speg A T 1: 75,403,810 (GRCm39) N2664Y probably damaging Het
Tcstv1b G T 13: 120,634,695 (GRCm39) probably benign Het
Treh A G 9: 44,596,015 (GRCm39) Y435C probably damaging Het
Trim59 A G 3: 68,945,140 (GRCm39) S67P probably benign Het
Trim68 A T 7: 102,328,004 (GRCm39) C309S unknown Het
Tubb4a G T 17: 57,387,880 (GRCm39) S382* probably null Het
Vmn2r15 A T 5: 109,434,217 (GRCm39) I829N probably damaging Het
Vmn2r68 T C 7: 84,883,722 (GRCm39) T128A probably benign Het
Vmn2r70 T A 7: 85,208,588 (GRCm39) I630L possibly damaging Het
Zc3hav1 A G 6: 38,306,156 (GRCm39) I632T probably benign Het
Zfp558 A G 9: 18,379,993 (GRCm39) S13P possibly damaging Het
Predicted Primers PCR Primer
(F):5'- TTGTCCAACTGTGAAAGACTGG -3'
(R):5'- GGCAACATTTAAGTTACTAACGCC -3'

Sequencing Primer
(F):5'- CTGGATAAAAAGTACTATGTGGGTG -3'
(R):5'- CGCCATTGAACTTTAAAACCATGAG -3'
Posted On 2019-12-20