Incidental Mutation 'IGL03350:AI987944'
ID 419688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI987944
Ensembl Gene ENSMUSG00000056383
Gene Name expressed sequence AI987944
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL03350
Quality Score
Status
Chromosome 7
Chromosomal Location 41022347-41042803 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 41042661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071804] [ENSMUST00000205338] [ENSMUST00000206801]
AlphaFold Q7TPX5
Predicted Effect probably benign
Transcript: ENSMUST00000071804
SMART Domains Protein: ENSMUSP00000071708
Gene: ENSMUSG00000056383

DomainStartEndE-ValueType
KRAB 4 65 8.72e-15 SMART
ZnF_C2H2 74 96 1.24e2 SMART
ZnF_C2H2 130 152 2.43e-4 SMART
ZnF_C2H2 181 203 5.21e-4 SMART
ZnF_C2H2 209 231 3.95e-4 SMART
ZnF_C2H2 237 259 1.95e-3 SMART
ZnF_C2H2 265 287 4.87e-4 SMART
ZnF_C2H2 293 315 1.72e-4 SMART
ZnF_C2H2 321 343 8.47e-4 SMART
ZnF_C2H2 349 371 9.73e-4 SMART
ZnF_C2H2 377 399 3.69e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170929
Predicted Effect probably benign
Transcript: ENSMUST00000205338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206430
Predicted Effect probably benign
Transcript: ENSMUST00000206801
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,022,589 (GRCm39) Y300* probably null Het
Adgre1 T A 17: 57,708,908 (GRCm39) V33E probably benign Het
Atp4a T C 7: 30,420,292 (GRCm39) L813P probably damaging Het
Blmh A G 11: 76,862,774 (GRCm39) N396D probably damaging Het
Brat1 T C 5: 140,691,750 (GRCm39) L9P probably damaging Het
Ccdc171 T C 4: 83,599,615 (GRCm39) I810T possibly damaging Het
Clec2m C A 6: 129,307,986 (GRCm39) V28L probably benign Het
Cyp2a22 T C 7: 26,634,279 (GRCm39) T292A possibly damaging Het
Ecm2 C T 13: 49,674,420 (GRCm39) T280I probably benign Het
Fa2h C T 8: 112,075,928 (GRCm39) V232I probably benign Het
Fbxw24 T C 9: 109,436,081 (GRCm39) D317G probably damaging Het
Flt4 C A 11: 49,525,620 (GRCm39) S722* probably null Het
Fryl T C 5: 73,290,649 (GRCm39) Q85R probably damaging Het
Gm3239 A G 14: 15,882,083 (GRCm39) R188G possibly damaging Het
Hspa13 A T 16: 75,554,717 (GRCm39) S456R probably damaging Het
Htr1b T C 9: 81,514,175 (GRCm39) Y144C probably damaging Het
Hydin A G 8: 111,038,856 (GRCm39) H198R possibly damaging Het
Krt78 A T 15: 101,854,952 (GRCm39) M953K probably benign Het
Lgr5 G T 10: 115,307,893 (GRCm39) T255K probably damaging Het
Lrp2 T A 2: 69,268,797 (GRCm39) D4162V probably damaging Het
Map3k2 A G 18: 32,345,201 (GRCm39) D342G probably damaging Het
Miip A G 4: 147,946,979 (GRCm39) V258A probably benign Het
Muc6 T C 7: 141,238,324 (GRCm39) H52R probably damaging Het
Nfs1 T C 2: 155,969,660 (GRCm39) E329G probably benign Het
Npsr1 T C 9: 24,009,605 (GRCm39) V37A probably benign Het
Or1ak2 T C 2: 36,827,595 (GRCm39) Y155H probably damaging Het
Or1e17 A T 11: 73,831,664 (GRCm39) L197F probably damaging Het
Or5aq1b A C 2: 86,901,904 (GRCm39) D191E probably damaging Het
Pex16 T A 2: 92,207,842 (GRCm39) M98K probably damaging Het
Pla2r1 C T 2: 60,285,517 (GRCm39) C699Y probably damaging Het
Plcd4 A T 1: 74,588,460 (GRCm39) D103V probably damaging Het
Pnpla1 A G 17: 29,095,966 (GRCm39) D129G probably damaging Het
Rad23a T C 8: 85,564,108 (GRCm39) E265G possibly damaging Het
Rbm11 C T 16: 75,397,696 (GRCm39) P209S probably benign Het
Ribc2 T A 15: 85,019,703 (GRCm39) W162R probably damaging Het
Rnf4 A G 5: 34,504,204 (GRCm39) E32G possibly damaging Het
Rpe65 A T 3: 159,320,154 (GRCm39) S269C possibly damaging Het
Slc7a14 T A 3: 31,291,558 (GRCm39) Y240F probably benign Het
Sorbs2 C T 8: 46,258,844 (GRCm39) P1047L probably damaging Het
Ttn T C 2: 76,580,166 (GRCm39) I23576V probably damaging Het
Usp24 T G 4: 106,228,276 (GRCm39) Y780* probably null Het
Wee2 T C 6: 40,426,665 (GRCm39) S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 (GRCm39) T126A probably benign Het
Zpld1 A G 16: 55,061,692 (GRCm39) probably benign Het
Zup1 G A 10: 33,804,107 (GRCm39) R456C probably benign Het
Other mutations in AI987944
AlleleSourceChrCoordTypePredicted EffectPPH Score
G1citation:AI987944 UTSW 7 41,024,232 (GRCm39) missense probably damaging 1.00
R0744:AI987944 UTSW 7 41,026,283 (GRCm39) missense probably damaging 1.00
R1083:AI987944 UTSW 7 41,024,763 (GRCm39) missense probably benign 0.09
R1480:AI987944 UTSW 7 41,024,343 (GRCm39) missense probably benign 0.00
R1485:AI987944 UTSW 7 41,023,954 (GRCm39) nonsense probably null
R1491:AI987944 UTSW 7 41,023,772 (GRCm39) nonsense probably null
R1662:AI987944 UTSW 7 41,023,873 (GRCm39) missense possibly damaging 0.79
R1892:AI987944 UTSW 7 41,024,020 (GRCm39) missense probably damaging 1.00
R1906:AI987944 UTSW 7 41,024,550 (GRCm39) missense probably benign 0.02
R2037:AI987944 UTSW 7 41,023,815 (GRCm39) missense probably benign 0.04
R2092:AI987944 UTSW 7 41,024,041 (GRCm39) missense possibly damaging 0.58
R2202:AI987944 UTSW 7 41,023,950 (GRCm39) missense probably damaging 0.98
R5070:AI987944 UTSW 7 41,024,748 (GRCm39) missense probably benign 0.23
R5421:AI987944 UTSW 7 41,024,200 (GRCm39) missense probably benign 0.02
R5531:AI987944 UTSW 7 41,023,814 (GRCm39) nonsense probably null
R6822:AI987944 UTSW 7 41,024,232 (GRCm39) missense probably damaging 1.00
R7039:AI987944 UTSW 7 41,023,880 (GRCm39) missense probably benign
R8133:AI987944 UTSW 7 41,024,489 (GRCm39) critical splice donor site probably null
R8228:AI987944 UTSW 7 41,026,260 (GRCm39) missense probably damaging 1.00
R8342:AI987944 UTSW 7 41,024,310 (GRCm39) missense probably benign 0.01
R8826:AI987944 UTSW 7 41,024,627 (GRCm39) missense possibly damaging 0.95
R9583:AI987944 UTSW 7 41,023,937 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02