Incidental Mutation 'R4414:AU041133'
ID 328073
Institutional Source Beutler Lab
Gene Symbol AU041133
Ensembl Gene ENSMUSG00000078435
Gene Name expressed sequence AU041133
Synonyms
MMRRC Submission 041694-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4414 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 81963847-81988899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81987316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 323 (T323M)
Ref Sequence ENSEMBL: ENSMUSP00000144661 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105314] [ENSMUST00000201286]
AlphaFold A0A0J9YVH3
Predicted Effect possibly damaging
Transcript: ENSMUST00000105314
AA Change: T322M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: T322M

DomainStartEndE-ValueType
KRAB 3 65 1.77e-15 SMART
ZnF_C2H2 105 127 1.16e-1 SMART
ZnF_C2H2 133 155 3.26e-5 SMART
ZnF_C2H2 161 183 1.26e-2 SMART
ZnF_C2H2 189 211 7.37e-4 SMART
ZnF_C2H2 217 239 3.39e-3 SMART
ZnF_C2H2 245 267 1.26e-2 SMART
ZnF_C2H2 273 295 4.79e-3 SMART
ZnF_C2H2 301 323 6.99e-5 SMART
ZnF_C2H2 329 351 5.9e-3 SMART
ZnF_C2H2 357 379 1.03e-2 SMART
ZnF_C2H2 385 407 6.42e-4 SMART
ZnF_C2H2 413 435 8.94e-3 SMART
ZnF_C2H2 441 463 1.6e-4 SMART
ZnF_C2H2 469 491 5.99e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201286
AA Change: T323M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: T323M

DomainStartEndE-ValueType
KRAB 4 66 7.7e-18 SMART
ZnF_C2H2 106 128 5e-4 SMART
ZnF_C2H2 134 156 1.4e-7 SMART
ZnF_C2H2 162 184 5.3e-5 SMART
ZnF_C2H2 190 212 3.2e-6 SMART
ZnF_C2H2 218 240 1.4e-5 SMART
ZnF_C2H2 246 268 5.3e-5 SMART
ZnF_C2H2 274 296 2e-5 SMART
ZnF_C2H2 302 324 3.1e-7 SMART
ZnF_C2H2 330 352 2.6e-5 SMART
ZnF_C2H2 358 380 4.5e-5 SMART
ZnF_C2H2 386 408 2.8e-6 SMART
ZnF_C2H2 414 436 3.9e-5 SMART
ZnF_C2H2 442 464 7e-7 SMART
ZnF_C2H2 470 492 2.5e-6 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T A 14: 44,406,690 (GRCm39) M120L probably benign Het
Aco2 A G 15: 81,773,584 (GRCm39) probably null Het
Acss1 A G 2: 150,501,823 (GRCm39) S115P possibly damaging Het
Ank2 A T 3: 127,019,411 (GRCm39) probably null Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Bod1l G A 5: 41,977,870 (GRCm39) T1148I probably benign Het
Celsr1 C T 15: 85,847,334 (GRCm39) V1468I probably benign Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cep89 A G 7: 35,115,822 (GRCm39) probably benign Het
Cfap58 A G 19: 47,941,480 (GRCm39) K283E possibly damaging Het
Cog5 C T 12: 31,710,853 (GRCm39) Q78* probably null Het
Col20a1 C T 2: 180,643,043 (GRCm39) R796C possibly damaging Het
Dnah7b A T 1: 46,165,840 (GRCm39) T502S probably benign Het
Dnm1l A G 16: 16,160,559 (GRCm39) probably null Het
Dse A T 10: 34,028,632 (GRCm39) F819L probably benign Het
Eloa G T 4: 135,738,553 (GRCm39) L136I possibly damaging Het
Eloa T A 4: 135,738,576 (GRCm39) H128L probably benign Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Golim4 T G 3: 75,802,347 (GRCm39) N287T probably benign Het
Gpx8 T A 13: 113,179,682 (GRCm39) K206N possibly damaging Het
Iqgap3 G T 3: 88,004,293 (GRCm39) V460F probably benign Het
Kcne4 A T 1: 78,795,651 (GRCm39) M100L probably benign Het
Kmt2a A T 9: 44,721,077 (GRCm39) probably benign Het
Ktn1 G A 14: 47,962,387 (GRCm39) W1117* probably null Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lmln T G 16: 32,930,220 (GRCm39) I559S probably benign Het
Mapk4 A T 18: 74,063,609 (GRCm39) F538I possibly damaging Het
Mlxipl A G 5: 135,166,253 (GRCm39) probably benign Het
Mmrn1 T C 6: 60,921,570 (GRCm39) L9P probably damaging Het
Mnat1 G A 12: 73,228,601 (GRCm39) R155H probably damaging Het
Mtmr11 T C 3: 96,075,207 (GRCm39) probably benign Het
Naaladl1 T C 19: 6,165,581 (GRCm39) L745P probably damaging Het
Obsl1 A T 1: 75,467,546 (GRCm39) D1409E probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Pla2g4e A T 2: 120,013,194 (GRCm39) H375Q probably benign Het
Prodh2 G A 7: 30,205,877 (GRCm39) V238M probably damaging Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Rock1 A T 18: 10,080,514 (GRCm39) M1010K probably damaging Het
Ros1 A G 10: 52,038,800 (GRCm39) probably null Het
Sim1 A T 10: 50,857,708 (GRCm39) D486V probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Src A G 2: 157,306,573 (GRCm39) D192G probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tmem145 A G 7: 25,006,554 (GRCm39) Y54C probably damaging Het
Try4 C T 6: 41,281,905 (GRCm39) P164S possibly damaging Het
Vegfc A T 8: 54,634,130 (GRCm39) N270Y probably benign Het
Other mutations in AU041133
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03403:AU041133 APN 10 81,974,178 (GRCm39) missense probably damaging 1.00
R0755:AU041133 UTSW 10 81,986,724 (GRCm39) nonsense probably null
R1924:AU041133 UTSW 10 81,987,101 (GRCm39) nonsense probably null
R2211:AU041133 UTSW 10 81,986,755 (GRCm39) missense probably damaging 1.00
R2400:AU041133 UTSW 10 81,986,742 (GRCm39) nonsense probably null
R3845:AU041133 UTSW 10 81,987,152 (GRCm39) missense probably damaging 1.00
R3914:AU041133 UTSW 10 81,987,649 (GRCm39) missense probably damaging 0.99
R4214:AU041133 UTSW 10 81,987,223 (GRCm39) missense probably damaging 1.00
R5315:AU041133 UTSW 10 81,987,506 (GRCm39) nonsense probably null
R5835:AU041133 UTSW 10 81,987,046 (GRCm39) missense probably damaging 1.00
R6258:AU041133 UTSW 10 81,986,992 (GRCm39) missense probably damaging 1.00
R6877:AU041133 UTSW 10 81,987,405 (GRCm39) missense probably benign 0.24
R7127:AU041133 UTSW 10 81,986,700 (GRCm39) missense probably benign 0.14
R7200:AU041133 UTSW 10 81,986,935 (GRCm39) missense possibly damaging 0.94
R7228:AU041133 UTSW 10 81,987,105 (GRCm39) missense possibly damaging 0.93
R7828:AU041133 UTSW 10 81,987,054 (GRCm39) missense probably damaging 1.00
R8198:AU041133 UTSW 10 81,987,249 (GRCm39) missense probably damaging 1.00
R9253:AU041133 UTSW 10 81,987,220 (GRCm39) missense probably benign 0.01
R9800:AU041133 UTSW 10 81,986,679 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTGCACGTCATAGAAGTCTTCAAAAT -3'
(R):5'- GCGACGTGTAAAGGCTTTACC -3'

Sequencing Primer
(F):5'- gtggtaaggcctttgcat -3'
(R):5'- TCACTTCGACGTGCAAAGG -3'
Posted On 2015-07-07