Incidental Mutation 'IGL03403:AU041133'
ID 421483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AU041133
Ensembl Gene ENSMUSG00000078435
Gene Name expressed sequence AU041133
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL03403
Quality Score
Status
Chromosome 10
Chromosomal Location 81963847-81988899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81974178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
Ref Sequence ENSEMBL: ENSMUSP00000100951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105314] [ENSMUST00000201286]
AlphaFold A0A0J9YVH3
Predicted Effect probably damaging
Transcript: ENSMUST00000105314
AA Change: V31A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: V31A

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: V32A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: V32A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
Bcar3 T C 3: 122,306,618 (GRCm39) V197A probably benign Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in AU041133
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4414:AU041133 UTSW 10 81,987,316 (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
Posted On 2016-08-02