Incidental Mutation 'IGL02696:Ulk1'
ID 303946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ulk1
Ensembl Gene ENSMUSG00000029512
Gene Name unc-51 like kinase 1
Synonyms Unc51.1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02696
Quality Score
Status
Chromosome 5
Chromosomal Location 110932354-110957963 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110940918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 337 (F337S)
Ref Sequence ENSEMBL: ENSMUSP00000143536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031490] [ENSMUST00000198561] [ENSMUST00000200299]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031490
AA Change: F337S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031490
Gene: ENSMUSG00000029512
AA Change: F337S

DomainStartEndE-ValueType
S_TKc 16 278 3.6e-98 SMART
low complexity region 287 318 N/A INTRINSIC
low complexity region 340 356 N/A INTRINSIC
low complexity region 400 423 N/A INTRINSIC
Blast:S_TKc 459 837 1e-131 BLAST
Pfam:DUF3543 838 1048 1.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197768
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198470
Predicted Effect probably benign
Transcript: ENSMUST00000198561
SMART Domains Protein: ENSMUSP00000143308
Gene: ENSMUSG00000029512

DomainStartEndE-ValueType
Blast:S_TKc 1 75 5e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000200299
AA Change: F337S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143536
Gene: ENSMUSG00000029512
AA Change: F337S

DomainStartEndE-ValueType
S_TKc 16 278 7.47e-96 SMART
low complexity region 287 318 N/A INTRINSIC
low complexity region 340 356 N/A INTRINSIC
low complexity region 400 423 N/A INTRINSIC
Blast:S_TKc 459 843 1e-129 BLAST
Pfam:DUF3543 844 1054 1.4e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199568
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Null homozygotes have blood defects including an increase in mean corpuscular volume and the presence of red blood cells that contain mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Nap1l4 A T 7: 143,077,898 (GRCm39) N345K possibly damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Other mutations in Ulk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ulk1 APN 5 110,935,738 (GRCm39) missense probably damaging 1.00
IGL00916:Ulk1 APN 5 110,940,877 (GRCm39) missense probably damaging 1.00
IGL00951:Ulk1 APN 5 110,940,270 (GRCm39) missense possibly damaging 0.85
IGL02404:Ulk1 APN 5 110,944,100 (GRCm39) splice site probably null
IGL02415:Ulk1 APN 5 110,935,487 (GRCm39) missense probably damaging 1.00
IGL02500:Ulk1 APN 5 110,957,000 (GRCm39) missense probably damaging 1.00
R0086:Ulk1 UTSW 5 110,935,573 (GRCm39) splice site probably benign
R0092:Ulk1 UTSW 5 110,944,193 (GRCm39) missense probably null 1.00
R0158:Ulk1 UTSW 5 110,936,810 (GRCm39) splice site probably benign
R0387:Ulk1 UTSW 5 110,936,663 (GRCm39) missense possibly damaging 0.91
R0453:Ulk1 UTSW 5 110,938,951 (GRCm39) missense probably damaging 1.00
R0837:Ulk1 UTSW 5 110,937,411 (GRCm39) splice site probably benign
R1244:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R1245:Ulk1 UTSW 5 110,937,206 (GRCm39) critical splice donor site probably null
R1268:Ulk1 UTSW 5 110,938,143 (GRCm39) missense probably damaging 1.00
R1342:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R1586:Ulk1 UTSW 5 110,937,382 (GRCm39) missense probably damaging 1.00
R1590:Ulk1 UTSW 5 110,943,632 (GRCm39) missense probably damaging 1.00
R1816:Ulk1 UTSW 5 110,935,697 (GRCm39) missense probably damaging 1.00
R1837:Ulk1 UTSW 5 110,937,247 (GRCm39) missense probably damaging 1.00
R1924:Ulk1 UTSW 5 110,938,936 (GRCm39) missense probably damaging 0.97
R1992:Ulk1 UTSW 5 110,935,017 (GRCm39) missense probably damaging 1.00
R2126:Ulk1 UTSW 5 110,940,302 (GRCm39) missense probably benign 0.27
R2276:Ulk1 UTSW 5 110,936,028 (GRCm39) missense probably benign 0.00
R2310:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2311:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2312:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2760:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2762:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2763:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2764:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R2859:Ulk1 UTSW 5 110,942,495 (GRCm39) missense probably damaging 1.00
R2932:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3760:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3761:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3762:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R3763:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4334:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4419:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4471:Ulk1 UTSW 5 110,937,223 (GRCm39) missense probably benign 0.03
R4615:Ulk1 UTSW 5 110,936,912 (GRCm39) missense probably damaging 1.00
R4776:Ulk1 UTSW 5 110,936,813 (GRCm39) critical splice donor site probably null
R4820:Ulk1 UTSW 5 110,939,996 (GRCm39) missense probably benign
R4912:Ulk1 UTSW 5 110,935,455 (GRCm39) missense probably damaging 1.00
R6299:Ulk1 UTSW 5 110,938,963 (GRCm39) missense possibly damaging 0.78
R6754:Ulk1 UTSW 5 110,938,259 (GRCm39) missense possibly damaging 0.91
R7233:Ulk1 UTSW 5 110,956,908 (GRCm39) missense probably damaging 1.00
R7724:Ulk1 UTSW 5 110,940,270 (GRCm39) missense probably benign 0.44
R7751:Ulk1 UTSW 5 110,957,078 (GRCm39) missense probably damaging 1.00
R7823:Ulk1 UTSW 5 110,946,780 (GRCm39) missense probably damaging 1.00
R8379:Ulk1 UTSW 5 110,935,531 (GRCm39) missense probably damaging 1.00
R8489:Ulk1 UTSW 5 110,947,002 (GRCm39) nonsense probably null
R8880:Ulk1 UTSW 5 110,934,288 (GRCm39) missense probably damaging 1.00
R9214:Ulk1 UTSW 5 110,936,663 (GRCm39) missense possibly damaging 0.82
X0025:Ulk1 UTSW 5 110,939,995 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16